Autism Jabberwocky

Untouched

2012-01-26T23:00:00.000-05:00

A new show involving a child with autism called Touch had its premiere on FOX this week.

The premise of the show is that Jake, an 11 year old boy who "never speaks, shows little emotion, and never allows himself to be touched by anyone" but just happens to "obsessed with numbers—writing long strings of them in his ever-present notebooks—and with discarded cell phones", has the special ability to "perceive the seemingly hidden patterns that connect every life on the planet".

The child's father, Martin, who "has tried everything to reach his son" and is "haunted by an inability to connect to his emotionally challenged ... son" almost loses his son to foster care until Jake's extraordinary gift is discovered by "a professor and an expert on children who possess special gifts when it comes to numbers".

This discovery, of course, changes everything and Martin realizes that his son is actually talking to him through his long strings of numbers and that it is his new job to "decipher these numbers and recognize their meaning" which will allow him to "help people across the world connect as their lives intersect according to the patterns Jake has foreseen".

Or at least that is what the show's website says the premise of the show is supposed to be.

I did not watch the premiere nor do I have any intention of watching the show when it starts airing regularly in another month or two. Why you ask? Well, the reason is quite simple.

Even if the show is the best written show out there and even if it gets right the details of what life is like with a non-verbal child on the spectrum, I am so very sick and tired of the autism myths that the show perpetuates.

I am so very tired of constantly running into the theory that autism somehow grants a person special gifts. In the overwhelming, vast majority of people with autism that is simply not the case.

Having autism does not give you super human abilities in math nor does it give you exceptional eye sight nor does it make you an expert musician nor does it allow you to "perceive the seemingly hidden patterns that connect every life on the planet". Nor is it necessarily a good thing when a person with autism does manage to achieve a higher level of knowledge or functioning in an area because they are fixated on the subject.

There is a big difference between a person obtaining knowledge or expertise in a subject because they want to and a person obtaining the same level of knowledge because they have a compulsion to do so. Yes, the end result might be similar, but the person who decides to pick up a subject on their own initiative also has the freedom to put it aside if they want to. A person with autism who gains knowledge from because they perseverate on the topic will rarely have the same freedom.

And then there is the automatic assumption that if a person with autism happens to be good at something that it must be their autism that gives them the ability to do so. But that completely ignores the fact that autism is just one facet of a person and that there is far more to the person than their autism.

I used to think that this entire idea of autism always granting special gifts was a joke and could be safely ignored. That is until I kept running into well-meaning people who, upon learning that my children had autism, would ask me what their "gift" was. I kid you not, this has happened to me more times than I can count.

So the last thing that the autism world needs is yet another show suggesting that autism brings special gifts. Because for a lot of people, the only exposure they have had to autism is what they have seen on TV or read in the media.

There is also another less common but equally damaging myth here. It is the idea that every non-verbal child with autism has some special way that they are trying to communicate if only their parents could figure it out. I can tell you that, after many years of trying to trying to communicate with my own children who were at first non-verbal and are now semi-verbal, this idea is mostly garbage.

There may be a few children out there who are trying to communicate through alternative channels and just not being understood, but I highly doubt that this is any more common than special gifts are. As a parent you certainly do learn to read a non-verbal child's subtle body language and other tells and to infer what they are thinking from those signs, but that is a long, long, long way from meaningful communication.

And again, I wouldn't really care about this myth either except that I have run into other people - some of them in the autism community - who assume it is true. I have had people tell me that my children must be communicating with me and I just have to try harder to understand what they are saying.

But the reality here is that it takes a great deal of time and effort to build channels of communication with children who are non-verbal. Sometimes you get lucky and the child and reach out and start talking on their own and other times you are left with trying every possible alternative form of communication out there in an effort to build those channels. There is no magical shortcut that, if discovered, will lead to an instant ability to communicate.

Maybe I am being too harsh on the show from the little I have heard about it, maybe I'm not. But the bottom line is that these myths about autism are as harmful as the old refrigerator mom theory of autism. What the TV viewing world needs is a healthy dose of what life is really like for children who are cut off from the world by their autism and not yet another Rain Man.

The New York Times' DSM 5 Autism Coverage

2012-01-23T22:42:00.001-05:00

The New York Times apparently thinks that life is too calm for people in the autism community. The paper has decided to shake things up a little by publishing a story suggesting that many people who have a diagnosis of autism now will lose their diagnosis under the proposed DSM 5 autism criteria. The story was published on Thursday night and was quickly picked up by news outlets around the web.

The story, which is supposedly based on a "new study", is filled with hyperbolic statements like -

Proposed changes in the definition of autism would sharply reduce the skyrocketing rate at which the disorder is diagnosed and might make it harder for many people who would no longer meet the criteria to get health, educational and social services"

and

The changes would narrow the diagnosis so much that it could effectively end the autism surge, said Dr. Fred R. Volkmar, director of the Child Study Center at the Yale School of Medicine and an author of the new analysis of the proposal. “We would nip it in the bud.”

But after you get past the chicken little routine and start looking for the real data behind these provocative statements what you will find is ... nothing. The story isn't based on a newly published study but rather is based on a presentation given at a meeting of the Icelandic Medical Association by one Dr. Fred Volkmar just the day before the story was published.

The actual study won't be published for another month or two.

To make matters worse, the members of the public aren't the only ones that are being kept in the dark about the contents of this study. It seems that the American Psychiatric Association (APA), the group that is responsible for the DSM 5 autism criteria, was also taken by surprise by this story. Members of this organization read about how their new criteria are going to end the autism epidemic in the NY Times just like the rest of us, I guess it was news to them too.

One of the DSM 5 autism committee members, Dr. Catherine Lord, had this to say about the release -

We’re really just hearing about this today,” says Cathy Lord, the director of the new Institute for Brain Development and a member of the DSM committee working on the diagnostic changes (Volkmar at one point was a member of the committee, but resigned). “It was not sent to the committee, it was not brought up to the committee, and it’s embargoed, so technically they’re not even supposed to be talking about it. You’re supposed to not even release the information until it comes out in the journal.

The APA also issued a press release defending the new autism criteria the same day that he story was originally published.

If I were in a cynical mood, I might have to wonder why Dr. Volkmar decided to present embargoed data to the Icelandic Medical Association and why he participated in the NY Times article. Because it looks suspiciously like Dr. Volkmar decided to take his issues with the DSM 5 autism criteria to the court of public opinion rather than to the scientific literature were they belong.

It is one thing for non-scientific people (like me) to talk about these things on blogs and to theorize about what the new DSM 5 criteria might mean. It is quite another when a scientific expert does the same in an apparent end run around the other members of his field.

Regardless, even though the study has not been published and the real data is not available, I think enough information was published that we can get an idea of what the final study will look like. The following is based on what I read and my own speculation about what the data is, take it for whatever it is (or isn't) worth.

From the NY Times article, we know that the original data came from a 1993 (some sources say 1994) field trial of the DSM IV and included data on 372 children and adults who were "among the highest functioning". The press release on Yale's web site tells us that these children and adults were selected because they did not have intellectual disabilities. From other versions of the story (sorry, can't find the link), we know that the original trial had roughly 1,000 participants.

Based on above, I think that the original data came from here. This was a field trial of the DSM IV criteria in 1994 that involved Dr. Volkmar and had 977 participants.

The breakdown of the participants from this paper is follows -

Disorder	Number	IQ > 70	Mute
Autistic Disorder	454	118	245

Other PDD	240	122	84
PDD-NOS/Atypical	163
Asperger	48
Rett	13
CDD	16

Related Disorders	83	130	93
Mental Retardation	132
Language Disorders	88
Childhood Schizophrenia	9
Other Disorders	54

Total	977	370	422

The 370 number with an IQ > 70 (no ID) very closely matches the 372 cited in the NY Times but I have to wonder if this new result includes the "Related Disorders" group. It doesn't seem like it would make sense to do that but without adding in that group you can't get to the 372 number. Maybe the related disorders group was excluded and the the cutoff wasn't strictly at an IQ of 70.

Going back to the current result, the researchers applied the new DSM 5 criteria to the group of 372 and found that about 45% - roughly 167 - would no longer qualify for an autism label. The breakdown that is given is about 25% of those with "classic autism" (autistic disorder), 75% of those with Asperger, and 85% of those with PDD-NOS.

Please remember when you consider these figures that they are based exclusively on the "high-functioning" group. So before you can get excited about 85% of children and adults with PDD-NOS not qualifying for an autism label, you have to ask yourself what part of the entire PDD-NOS group are they talking about.

There are many potential problems with this result.

First, as mentioned in the NY Times article, the study from 1994 might not have the proper data to even apply the DSM 5 criteria. For example, the 1994 study makes no mention of any data concerning sensory issues but sensory issues are one of the criteria under the DSM 5. Since higher functioning individuals are, in my experience at least, more likely to have sensory issues than other forms of restricted or restricted behaviors, the absence of this data could make a big difference.

Second, this data set is twenty years old and was collected at a time when autism was thought to be extremely rare. Since that time the rate of autism has exploded from about 5 in 10,000 to 91 per 10,000. Clearly something about how autism is diagnosed and who gets an autism label has changed in the past 20 years and those changes - whatever they are - would definitely have an impact on the current results.

If nothing else, if you wanted to do an analysis of what the changing criteria meant for people currently on the spectrum, it would have made more sense to look at the bulk of the people who are currently on the spectrum. Even a back of the envelop calculation suggests that the number of children with autism who are currently eight years old (born in 2005) is far larger than the number of people with autism born during the entire decade of the 1980s (the population in the 1994 study).

If you wanted to do a real analysis of the impact of the criteria, you should look at the people who just received a DSM IV diagnosis and see what impact the DSM 5 would had. Going back to the dark ages of autism and looking at an ancient, incomplete data set doesn't really tell you anything.

But the biggest problem with the story is what is doesn't cover. It doesn't tell us anything at all about the "lower functioning" side of the spectrum. Well, I say lower, but what I really mean is the majority of people with autism. For all this talk about what the new DSM 5 will mean for the highest functioning, very little is being said about what the changes mean for the rest of the spectrum.

Consider again the numbers in the table above from the 1994 study. In this study, the majority - over 60% - had an IQ that would place them in the intellectually disabled group. Over 40% were considered to be mute, meaning that they either had extremely limited or no verbal skills.

These numbers have not changed that much over the years.

There is still a large group of children and adults, perhaps as high a 50%, who would test as intellectually disabled. And there is still a significant group, again as much as 50%, that have substantial problems with function speech.

The exact source and breakdown of these numbers will have to wait for another day but lets take a highly conservative estimate and assume that 40% of all people with autism have issues with either intellectual disability or functional speech. The actual number is likely quite a bit higher because these aren't necessarily the same groups - you can have ID and have functional speech and not having functional speech doesn't mean that you will test as having ID.

Now here is the problem.

The DSM 5 has removed all of the criteria deal with lack of functional speech and other types of functional communication and replaced them with criteria that deal with social communication. So the new criteria take something that was a substantial problem for more than 40% of people with autism - in 1994 as well as today - and throws it out the window.

And when it comes to the intellectually disabled group it gets even worse. While the new criteria don't come out and say it explicitly, there is language in the criteria that seems to imply that anyone who would qualify as intellectually disabled will no longer qualify for a diagnosis of autism. So the new criteria was the potential to exclude what was originally the majority of people with autism and is still today a substantial group.

Or in short, the DSM 5 is minimizing what is an extremely disabling aspect of some people's autism and has the potential to kick out a large segment because the also are intellectually disabled. Remember that 40% I mentioned a short while ago? That is a conservative estimate of how many "lower functioning" people the DSM 5 has the potential to impact.

Now lets put the scary 45% percent number from the NY Times in context. That number refers to a subset of the spectrum, somewhere between 35% to 50%, depending on the exact data from the original study that was used. So lets split the difference and say that it refers to 42% of the spectrum. That means that the scary 45% number really would be about 20% of the entire spectrum.

So, once again, the media is dwelling on the needs of the higher functioning minority (20%) while completely ignoring what is happening with the lower functioning majority (40%). I would say that I am surprised but I really am not. The media is in the business of selling stories and no one really wants to hear about children on the lower functioning side of autism. The bottom line is that both groups have serious issues and both groups deserve attention.

As for what this new result means in the end, my guess is not much. We will have to wait and see what the actual study says instead of relying on media accounts but so far I am not impressed.

A Tale of Two Autisms

2012-01-03T12:14:00.000-05:00

I found the contrast between these two articles on autism in young adults to be rather striking.

One the one hand you have a tale of two young aspies who are trying to find a way to make love work in the NY Times. While on the other you have an op-ed in the Washington Post from a mother who is gearing up to once again fight for her son and find an appropriate place for him because he cannot take care of himself.

If you ever wanted to understand why there is a large divide between the self-advocate/aspie crowd and parents whose children have autism, look at the differences between these two stories. One the one hand you have two young adults who just need time to grow up and learn to deal with the world while on the other you have a young adult who can't live on his own.

It doesn't get much clearer than that.

Yet Another Thimerosal Study

2011-12-22T19:44:00.001-05:00

In what could be considered an early Christmas gift, researchers in Poland have published yet another study that fails to find an association between thimerosal and autism. Well, I say Christmas gift, but really it is the sort of like the bunny suit that Aunt Clara made for Ralphie in the Christmas Story movie. After you open the box and look at it you are left wondering what was she thinking.

If you don't know what all the drama is about when it comes to thimerosal in vaccines and autism, well you must have been hiding under a rock for the past decade. You might want to just go back there and skip this post, it will be better for your sanity.

Anyways, I can't talk about the details of the study because it is in Polish and I can't read Polish. But two things did jump out at me as I was reading the abstract.

First, vaccines that contain thimerosal are still in routine use in Poland.

That surprised me a little bit since the safety of using thimerosal as a preservative in vaccines was first questioned more than twenty years ago. I thought that most of the first and second world countries had moved away from using it by now.

Second, you can't just a study by its title.

The title of this study is "Lack of association between thimerosal-containing vaccines and autism" and most of the abstract matches the title. They included children with and without autism, determined how much thimerosal each child was exposed to (not sure how), adjusted for other confounding factors, yada yada yada, and concluded "no significant association was found between TCVs exposure and autism." Just what you would expect from your run of the mill thimerosal study.

But then there is this one little sentence -

After adjusting to potential confounders, odds ratios of the risk of autism developing for infants vaccinated with TCVs were 1.52 (95% CI: 0.29-11.11) for doses 12.5-87.5 microg, 2.78 (95% CI: 0.29-11.11) for 100-137.5 microg and 1.97 (95% CI: 0.37-18.95) for these exposed > or = 150 microg

I had to read that twice before it sank it. Here the abstract just finished saying there was no significant association and then it says that infants exposed to thimerosal had an increased risk of autism? And this risk went up (more or less) as the dose of thimerosal increased?

Say what?

Of course the answer to this conundrum rests in the word "significant", as in statistically significant. The researchers could not be confident that the relationship was not due to random chance. And the 95% confidence intervals listed reflect that fact.

For example, if you take look at that first set up numbers, a child was almost one and a half times more likely to develop autism if they were exposed to anywhere between 12.5 to 87.5 micrograms of thimerosal than a child who was not. But there is a 95% chance than the odds could have been anywhere from one third less likely all the way to more than 11 times more likely.

Or in other words, you can be mostly confident that you have no clue what the real relationship is.

Even still, I would love to be able to read this study and see what the numbers were. Because it looks like there might be something interesting going on with the data. Is the data evenly distributed and that is causing the wide intervals or is the data grouped together, possibly highlighting a vulnerable subset?

If only I could read Polish.

Anyway, even if this study did show an increased risk of autism after exposure to thimerosal and that the risk increased as the exposure to thimerosal increased, it would not be anywhere near enough to overturn the other studies that show the opposite. All it could do is put a little doubt in your mind that something was missed in the earlier studies.

References

Mrozek-Budzyn D, Majewska R, Kieltyka A, Augustyniak M. [Lack of association between thimerosal-containing vaccines and autism]. Przegl Epidemiol. 2011;65(3):491-5. Polish. PubMed PMID: 22184954.

Restricted Diets for ADHD

2011-12-20T06:45:00.000-05:00

I think the abstract and conclusion for this new study says it all. There might be something to the idea that some children with ADHD are sensitive to synthetic food colors and could benefit from a restricted diet.

What's old is new again...

Meta-Analysis of Attention-Deficit/Hyperactivity Disorder or Attention-Deficit/Hyperactivity Disorder Symptoms, Restriction Diet, and Synthetic Food Color Additives

Objective
The role of diet and of food colors in attention-deficit/hyperactivity disorder (ADHD) or its symptoms warrants updated quantitative meta-analysis, in light of recent divergent policy in Europe and the United States.

Method
Studies were identified through a literature search using the PubMed, Cochrane Library, and PsycNET databases through February 2011. Twenty-four publications met inclusion criteria for synthetic food colors; 10 additional studies informed analysis of dietary restriction. A random-effects meta-analytic model generated summary effect sizes.

Results
Restriction diets reduced ADHD symptoms at an effect of g = 0.29 (95% CI, 0.07–0.53). For food colors, parent reports yielded an effect size of g = 0.18 (95% CI, 0.08–0.24; p = .0007), which decreased to 0.12 (95% CI, 0.01–0.23; p < .05) after adjustment for possible publication bias. The effect was reliable in studies restricted to food color additives (g = 0.21, 95% CI = 0.06–0.36) but did not survive correction for possible publication bias and was not reliable in studies confined to Food and Drug Administration–approved food colors. Teacher/observer reports yielded a nonsignificant effect of 0.07 (95% CI = −0.03 to 0.18; p = .14). However, high-quality studies confined to color additives yielded a reliable effect (g = 0.22, 95% CI = 0.10–0.41, p = .030) that survived correction. In psychometric tests of attention, the summary effect size was 0.27 (95% CI = 0.07–0.47; p = .007) and survived correction. An estimated 8% of children with ADHD may have symptoms related to synthetic food colors.

Conclusions
A restriction diet benefits some children with ADHD. Effects of food colors were notable were but susceptible to publication bias or were derived from small, nongeneralizable samples. Renewed investigation of diet and ADHD is warranted.

Reference
Nigg JT, Lewis K, Edinger T, Falk M. Meta-analysis of attention-deficit/hyperactivity disorder or attention-deficit/hyperactivity disorder symptoms, restriction diet, and synthetic food color additives. J Am Acad Child Adolesc Psychiatry. 2012 Jan;51(1):86-97.e8. PubMed PMID: 22176942 DOI: 10.1016/j.jaac.2011.10.015

Vanquish the Forces of Autism Nonsense

2011-12-14T21:22:00.000-05:00

When I hear about yet another autism advocate taking a tragic event involving autism and twisting it to serve their own ideological goals, I get annoyed. There is a time and a place for pushing your views on the world and then there is a time when you should not.

I would have thought it would be obvious, but if a child is dead because their mother killed them, that is not a good time to be pushing your views. But since this is not the first time that an autism advocate has treated a child's murder as the perfect opportunity to push their agenda, maybe it isn't obvious.

So let me say this again.

You DO NOT use the murder of child to make an ideological point, sit around and basically say "I told you so", nor do you take the opportunity to label a completely unrelated party as "evil". You just do not do that. Period.

This time (sad that I have to clarify that) I am talking about Shannon Des Roches Rosa's recent rant entitled "Vanquish the Force of Autism Evil! Declare Your Autism Pride" in which she places the blame for an infant's murder on the media and "autism organizations and websites like Age of Autism, Adventures in Autism, AnneDachel, and SafeMinds".

Harold Doherty already took Ms. Des Roches Rosa to task for her rant on Facing Autism in New Brunswick but I thought I might add my two cents worth as well. You see, while Ms "Declare Your Autism Pride" was busy labeling a large segment of the autism community as "evil" and praising her own attempts to counter negative autism attitudes, she apparently forget to do some basic fact checking.

The incident in question involves a mother by the name of Stephanie Rochester who stands accused of smothering her 6 month-old son because she believed he had autism. The case has received a good amount of media coverage, such as here, here, and here, so I won't talk about all of the little details of the case. But the relevant facts of the case are as follows.

This suicidal mother thought that her 6 month old son was showing signs of autism. She (presumably) knew what the signs of autism were because she "worked as a counselor at the Children's Hospital and had worked with autistic children". She thought that a child with autism would "emotionally and financially ruin her life" and she didn't want to "burden her husband with a baby inflicted with autism". So she decided that the rational thing to do would be to murder her own child before she (presumably) killed herself.

Not surprisingly, when this case went to trial, this woman was evaluated to see what her mental state was at the time of the murder. She was found to be legally insane by both a psychiatrist hired by the defense and a state psychiatrist appointed by the court. Some of the media articles have suggested that she might have been suffering from postpartum depression at the time of the murder as well. It is expected that this woman will pled not guilty by reason of insanity and be committed to a mental hospital.

My heart goes out to the family as they lost not one but two family members to this senseless and possibly preventable tragedy.

However, Ms. Des Roches Rosa apparently has a different take on this tragedy. She "squarely" blames the media and its "autism negativity and fear mongering" as well as "autism organizations and websites like Age of Autism, Adventures in Autism, AnneDachel, and SafeMinds, which have made unilateral demonization of autism their mission".

Never mind the fact that this woman worked for two years with families who have children with autism, she must have completely ignored her first hand experience and relied instead on what the media said about autism. It couldn't be that she witnessed first hand what an autism diagnosis can do to a family, she must be a regular reader of those evil blogs that she mentioned.

Never mind the fact that this woman has been found by multiple professionals to be legally insane at the time of the murder, it must have been people trash talking autism that cased this murder. I mean postpartum depression couldn't have had anything to do with the murder. It couldn't have been that her fear was based on her actual experience with autism combined with mental health issues that caused the murder.

I don't know what it worse, taking advantage of a child's murder to push your agenda or taking advantage of a person with clear mental health issues to push your agenda. I find both actions to be completely repugnant.

It is time to stop the nonsense in the autism world. If Shannon Des Roches Rosa wants to be a postive force in the autim autism world then she needs to stop saying such utter bullshit like -

It doesn't matter how much you love someone with autism -- if you continuously and publicly declare them damaged goods, you are hurting them. And their peers. And telling everyone else it is acceptable to hurt Autistics.

It is perfectly reasonable, rational, and generally OK for a parent to not like autism and say so publicly. I love my children very much but I strongly dislike their autism because of what it does to them. I don't think that autism is a fundamental part of who my children are, rather I think it is something that limits what they can do and puts unneeded obstacles in their way. They would be better off if they did not have autism.

In Ms. Des Roches Rosa's book, saying so makes me a force of evil that needs to be vanquished. In my book, it means that I am honest about the reality of my children's disability and my feelings towards it. I believe that it is important for you to be honest with yourself if you want to have a good life in spite of the challenges that autism brings.

If anyone feels the need to "vanquish" me because of my "evil" views, bring it on. Although you might want to look up what a "jabberwocky" is and have your Vorpal sword ready as I don't "fall to my knees" easily or give up without a fight.

But seriously, if you want to help new parents that are struggling with autism, the absolute last thing you should do is tell them that their fears of autism are somehow wrong. You don't look at a person who is handed the enormity of an autism diagnosis and tell them that they are wrong to be afraid.

Instead you acknowledge that the way they feel is a legitimate way to feel when faced with autism. You then help them to deal with the fear and emotions that come with an autism diagnosis and help them accept the fact that their child isn't going to be what they expect. You don't pretend that there is no bad and only talk about the supposed good (still waiting for that to appear). That goes double or possibly triple if the parents in question have mental health issues of their own.

Murdering your own child is most certainly wrong, but so is blaming it on a group of people you don't like.

How do advocates such as Shannon Des Roches Rosa expect us to take what they say about autism seriously when they can't show even basic compassion for mentally ill mother?

Practice what you preach or sit down and shut the hell up.

ASAN's Discriminatory Agenda

2011-12-13T13:42:00.001-05:00

The Autistic Self Advocacy Network (ASAN) recently held a symposium on "Ethical, Legal, and Social Implications" of autism research where they brought together "self-advocates and researchers" to discuss research into autism.

I really couldn't care less about what ASAN has to say about "ethical" implications of autism research (no genetics/autism research) or what they think about "appropriate and inappropriate intervention goals" (no ABA) because most of their positions on those issues are completely nonsensical.

You have only to look at their recent arguments on wandering in autism or Ari Ne'eman basically accusing a presenter at the IACC of supporting eugenics or ASAN's opposition to passing the Combating Autism Act and their continued opposition to renewing it to get a feel for what sort of nonsense they endorse.

But what I did find very interesting was the announcement that they put out afterwards -

The Autistic Self Advocacy Network's Symposium on Ethical, Legal, and Social Implications of Autism Research, funded by the Administration on Developmental Disabilities, was a huge success. The symposium video will be made available in the coming weeks with captioning. We'd like to thank our co-sponsors, the Harvard Law Project on Disability, the Petrie-Flom Center for Health Law Policy, Biotechnology and Bioethics and the UNESCO Bioethics Chair, American Unit for helping to make this event possible.

Our conversation was broad and wide ranging. Perhaps the most interesting characteristic of the Symposium was the people that came to the table. Our participants - split evenly between self-advocates and researchers - identified a wide number of ways to help advance the inclusion of Autistic people ourselves in the research process. From Community Based Participatory Research processes to greater inclusion of Autistic adults on IRBs and Grant Review panels, a number of actionable next steps emerged from our discussion. ASAN will be following up on this through a series of targeted policy briefs and collaboration with our federal partners to make those ideas reality.

One of the key issues to emerge out of our conversation in Cambridge was the inclusion of Autistic people and other people with disabilities as grant reviewers on federally funded grants. In response to our symposium, several key federal funders have offered to work with ASAN to identify Autistic adults and other people with disabilities interested in serving on forthcoming federal grant review panels.

As a result, we're issuing a call for resumes from Autistic adults and other people with disabilities who believe in the civil rights/social model approach to disability and want to ensure that self-advocates are represented in grantmaking. Please include any areas of expertise within your resume. Resumes can be sent to info@autisticadvocacy.org with the Subject line GRANT REVIEW.

If you had any doubts about what ASAN's agenda was or who they represent, the second to last paragraph should clear it up for you. ASAN is only interested in your views on autism and having your input for the grant making process if you believe in the social model of disability and consider autism to be some sort of civil rights movement.

Presumably if you, like me, think that autism is far more than just a social or civil rights problem, ASAN does not want you included in the process.

So, what do you call it when a group that claims to represent a large group of people systematically excludes people based on their "beliefs"? What do you call it when a large part of that same group of people who are being excluded are disabled to the point that they have trouble advocating on their own behalf?

The think the appropriate word is discrimination.

This bit of nonsense was so bad that even Sullivan from Left Brain Right Brain, a strong neurodiversity advocate and staunch supporter of ASAN, said that this sentence should not have been there.

I also have to (almost) laugh at how blatantly obvious this call for volunteers is. They are basically saying that they going to try to interfere with the scientific process to put a halt to anything that they don't agree with by getting people with certain views appointed to key positions.

Oops, I'm sorry, maybe that was a little too blunt. Maybe I should have that they want to put a stop to any unethical research. You know, the research into the biological and genetic mechanics of autism and behavioral treatments that hold the key to improving the lives of countless children with autism.

Well, that didn't sound any better.

I wonder if anyone has explained to ASAN what censorship is or, for that matter, how the scientific process is supposed to work. Because science is supposed to be about finding out what the reality of a situation is - not about only allowing the bits that fit your preconceived notions of what something is. You certainly can't get to the reality of something like autism by ignoring the reality of what autism is for the majority of people who have it. For these people, autism is far more than just a civil rights movement.

The good news is that ASAN is almost literally throwing away what little credibility they have left each time they pull one of these stunts. And since their short history is full of these sorts of incidents, they shouldn't have much credibility left.

Maybe someday ASAN will grow up and stop acting like a bunch of rebellious teenagers. Maybe someday that will actually take the time to understand the needs of everyone with autism instead of just considering what is in their best (self) interests. Maybe they will take the time to come up with policy suggestions that will actually help rather than hurt children with autism.

And maybe pigs will fly too.

Glass Half Full of Wishful Thinking

2011-12-08T19:50:00.001-05:00

You know, I try to be a glass half full type of person when it comes to being the parent of children with autism. I have found it is best to look on the bright side and stay hopeful about the future while not dwelling on the unpleasantries that go along with autism. But I have also found it is equally important to acknowledge the realities of autism and to resist the urge to sugarcoat the situation. It is a fine but necessary line to walk if you want to keep your sanity in the face of autism.

But there is looking on the bright side while acknowledging reality and then there is this new paper that talks about the "benefits to the lived experiences of female primary caregivers of children with autism." In this paper, the authors interviewed 8 mothers who were primary caregivers for children with autism and concluded that "benefits were found in all areas of questioning, including financial, social, familial, health, and employment implications, in addition to benefits arising from activities and involvements taken on as a result of raising a child with autism"

I haven't read the full paper but the conclusion alone is so absurd as to be laughable.

Having a child with autism has financial benefits? Oh come on. Providing even the basic therapies for autism - behavioral, speech, and OT/PT - can be hugely expensive, especially if the costs are not picked up by insurance. That doesn't even begin to consider all of the other associated therapies that might be required or the lost wages from having one parent staying at home. And I won't even touch the prospect of having to provide life-long support for a child who might be unable to ever case for themselves.

I could go on as to why the other "benefits" are equally bad but I don't really see the point in depressing everybody. The bottom line is that having a child with autism can and often does imposes a heavy cost to the parents in all of the areas listed.

I can't imagine that the authors were able to support that conclusions without resorting to cherry picking through the question answers or engaging in some wishful thinking. And even if, by some miracle, they managed to find 8 mothers who did say that having a child with autism gave them all of these benefits, I doubt that their experiences would be representative of mothers' experiences in general.

I have to wonder what the point of the current paper was since it flies in the face of most of the other available data. The last sentence in the conclusion seems to suggest the purpose is to help improve the lives of families effected by autism - "In this way, clinical nurse specialists may encourage and contribute to support systems that foster a positive experience for caregivers of children with autism spectrum disorder, the children they care for, and their families"

But I can say, from my own experiences, the absolute last thing a family needs is a medical professional trying to blowing sunshine up your butt. It is hard enough to come to terms with what autism means and what impact it is going to have on your life without someone purposely distorting the picture. And until you manage to come to terms with and accept what autism means for your family, you are never going to be able to deal with it over the long term.

Don't get me wrong, raising a child - even a child with a disability such as autism - can be a very rewarding experience for a parent. But let's not pretend that autism doesn't come with a high price tag.

References

Markoulakis R, Fletcher P, Bryden P. Seeing the glass half full: benefits to the lived experiences of female primary caregivers of children with autism. Clin Nurse Spec. 2012 Jan;26(1):48-56. PubMed PMID: 22146274

First Drug Targeting Core Symptoms of Autism Nears?

2011-12-07T17:30:00.000-05:00

Curemark is reporting that its phase III trail of its dietary enzyme for treating autism showed statistically significant improvements in both the core and non-core symptoms of autism. Of course this information is just from a press release and we shouldn't draw any conclusions before the results are published, but it does look promising.

For those of you who aren't familiar with this enzyme, its purpose is to help break down dietary proteins that people with autism might not be able to digest properly on their own. If this study has in fact managed to demonstrate improvements to the core symptoms of autism by altering the digestive process, that would be huge. The question would then no longer be whether there is a connection between GI symptoms and autism but rather what the connection is.

I look forward to the full results being published.

The press release from Curemark is below.

Curemark LLC Reports Positive Phase III Results of CM-AT In Children With Autism
Wednesday, December 7th - 2011

RYE, New York, Dec. 7, 2011 – Curemark LLC, a Rye, New York-based drug research and development company, today announced that its Phase III double blind randomized placebo controlled multicenter clinical trial of CM-AT for autism met its primary and secondary endpoints. The trial compared CM-AT to placebo in children with autism aged 3 – 8. Top line results demonstrate a statistically significant effect of CM-AT over placebo on both core and non-core symptoms of autism. Analysis of the full trial data is ongoing and the results will be presented at an upcoming medical meeting.

“We are extremely pleased with the results of our trial,” said Dr. Joan Fallon, CEO of Curemark. “We wish to thank all the children and their parents who participated in the study, and look forward to a full review of the data by the FDA.”

CM-AT has been granted Fast Track status by the Food and Drug Administration (FDA). The fast track programs of the Food and Drug Administration are designed to facilitate the development and expedite the review of new drugs that are intended to treat serious or life-threatening conditions and that demonstrate the potential to address unmet medical needs.

(Read the rest, including relevant disclaimers, on the Curemark site).

Autism Prevalence in Gothenburg Sweden

2011-11-04T10:39:00.000-04:00

I haven't seen the full text of this one yet but it looks interesting. The 0.80% is relatively close to what was found in the US 5 years ago but I have to wonder why it is so far below the more recent 2.64% estimate out of South Korea.

The Prevalence of Autism Spectrum Disorders in Toddlers: A Population Study of 2-Year-Old Swedish Children.

Autism Spectrum Disorder (ASD) is more common than previously believed. ASD is increasingly diagnosed at very young ages. We report estimated ASD prevalence rates from a population study of 2-year-old children conducted in 2010 in Gothenburg, Sweden. Screening for ASD had been introduced at all child health centers at child age 21/2 years. All children with suspected ASD were referred for evaluation to one center, serving the whole city of Gothenburg. The prevalence for all 2-year-olds referred in 2010 and diagnosed with ASD was 0.80%. Corresponding rates for 2-year-olds referred to the center in 2000 and 2005 (when no population screening occurred) were 0.18 and 0.04%. Results suggest that early screening contributes to a large increase in diagnosed ASD cases.

References

Nygren G, Cederlund M, Sandberg E, Gillstedt F, Arvidsson T, Carina GillbergI, Westman Andersson G, Gillberg C. The Prevalence of Autism Spectrum Disordersin Toddlers: A Population Study of 2-Year-Old Swedish Children. J Autism DevDisord. 2011 Nov 3. [Epub ahead of print] PubMed PMID: 22048962.

Autistics Speaking Day : Listen to the Silence

2011-11-01T12:35:00.000-04:00

Today, November 1st, is "Autistics Speaking Day" and is supposed to be a day where people with autism tell the world what it is like to live with autism. Today is supposed to be a day to raise awareness and acceptance of autism, to battle negative stereotypes about autism, and to advocate for the inclusion of "autistic" people in the community. All of these things are laudable goals.

But today, in my ever so humble opinion, should not be remembered only for the voices that you do hear, but also for the voices that you don't. Today, the voices you won't hear is the overwhelming majority of people with autism because autism has taken their ability to communicate.

There are no solid figures available, but by all accounts almost half of all people with autism never learn to talk. Another ten to thirty percent will have rudimentary use of language but would not be able to carry on a typical conversation. It is only a minority of people with autism who have the ability to communicate effectively with the world. It is only the minority who are able to function in the world in spite of their autism.

So today, you will hear about the experiences and needs of a very vocal minority of people with autism. And while these people do have worthwhile and important things to say, let's not forget that they tend not to speak for the needs of the silent majority. In their rush to declare that autism is just a "difference" or a neurological diversity that needs acceptance rather than a cure, this group of vocal "autistics" tends to marginalize and ignore the needs of those who are profoundly disabled by their autism.

So today, while you are listening to the voices of the "autistics", don't forget to listen to the silence from the majority of people with autism who are unable to talk for themselves.

Moving the Chains

2011-10-30T17:27:00.000-04:00

Yesterday morning we woke up to two very surprising things. First, in what is very rare event in our area in October, it had snowed overnight and there was snow on the ground. Second, our youngest daughter C noticed the snow and decided to talk about it.

My wife and I woke up to C banging on the window in our bedroom and saying "Its snowing! I want go outside and play in snowman!" At first I thought I was dreaming because the youngest hasn't been talking to us much lately and, while she can and does use short sentences to communicate, she has never strung together three different ideas in one burst of communication.

Of course, we did get her dressed and let her go outside to play in the snow. And a little while later, with Mom and Twin A's help, she built her first snowman. (Twin B, as usual, took one look at the snow, decided that it looked way too cold and wet, and hid in her bedroom.)

But, like always when it comes to autism, I can't help but wonder why.

Why was C able to put together three different ideas and express herself at that moment in time? It certainly isn't the first time that she has seen snow nor has she ever been particularly excited by it in the past. Why this time?

If this is the level at which she can talk, why doesn't she more often? She is certainly a very opinionated little girl and is quite often put out that we can't guess what is on her mind. If she has the ability to tell us exactly what she wants, why doesn't she? Is it that she normally can't or that she won't?

All of which inevitably leads to the question of whether this group of sentences was the emergence of a new skill/ability for her or whether it was one of those strange flashes of skills that you see in children with autism. Is she going to start expressing more complex ideas or was this just a glimpse of what lies beneath the surface of her autism?

Of course, there are no answers to any of these questions. Only time will tell if C is breaking through the blocks of her autism or whether this was just a fluke. In the meantime all we can do is keep trudging along down the field heading for the end zone.

And making snowmen when she she asks for them.

Lung Abnormalities in Children with Autism?

2011-10-25T15:13:00.002-04:00

I have no idea what the significance of this could or would be but a presentation at CHEST 2011 suggests that children with autism might have a strange abnormality in their lungs. From a summary of the finding in U.S. News & World report -

In a typical lung, the windpipe, or trachea, branches into two main stems. From there, airways branch off the stems much like tree branches in a random, asymmetrical pattern, said Stewart, a pediatric pulmonologist at Nemours Children's Clinic in Pensacola, Fla.

But in the autistic children, those branches were instead doubled up and symmetrical. And the branches were smaller -- whereas in a normal lung you might have one large branch jutting off, in the autistic child, she'd see two, smaller branches instead.

The abstract of the presentation is below.

Can Bronchoscopic Airway Anatomy Be an Indicator of Autism?
Barbara Stewart, MD
Nemours Childrens Clinic, Pensacola, FL

PURPOSE: The purpose of this study is to investigate possible correlation between certain airway anamolies and a definitive diagnosis of autism and/or autistic spectrum disorder.

METHODS: IRB approval was obtained for a restrospective study to evaluate 49 patients with a diagnosis of autism or autistic spectrum disorder. These patients were seen in the pulmonary clinic with a diagnosis of cough that was unresponsive to therapy and who required further pulmonary work-up. Bronchoscopic evaluation of the airway was included as part of that work-up.

RESULTS: Bronchoscopic evaluations revealed the presence of initial normal anatomy followed by double take-offs in the lower airway (or "doublets") in 100% of the autistic population studied.

CONCLUSIONS: There appears to be a correlation between autistic spectrum disorder and airway anatomy. This is a small study of 49 patients. More investigation is warranted.

CLINICAL IMPLICATIONS: At present autism is diagnosed through subjective observation of "autistic behaviors." Autistic children with cough may be diagnosed objectively.

DISCLOSURE: The following authors have nothing to disclose: Barbara Stewart, Barbara Stewart

No Product/Research Disclosure Information

doi: 10.1378/chest.1120025

A Critical Look At The Level and Nature of Autistic Intelligence

2011-10-13T20:44:00.000-04:00

As I mentioned a few days ago, Michelle Dawson et al published yet another paper on "the level and nature of autistic intelligence". I didn't go into any details about the paper at that point - even though I had read it and had started writing this post - because it had disappeared from the journal's website and I wasn't sure what it was going to be in when it came back. Well, the paper is back and since Ms. Dawson was kind enough to call me a "renowned blogger" I thought the least I could do was give the paper a serious look.

I am actually going to be talking about two papers by Dawson et al - "The Level and Nature of Autistic Intelligence" and "The Level and Nature of Autistic Intelligence II" - because they use some of the same underlying data and they talk about the same idea. The text of both papers is freely available, here and here, so if you are really interested in the subject I suggest that you read them for yourself.

With that said, the basic premise in both papers is to that people with autism are actually more intelligent than is commonly thought. Conventional wisdom (and science) holds that people with autism are often intellectually disabled and, even when they aren't, have intellectual challenges that places them at a disadvantage to a "typical" person. These papers try to show that people with autism have a different way of thinking and that it isn't so much that they lack intelligence but rather it is the tests that are used to measure their intelligence that are lacking.

Or, in the words of the of the second paper, "autistic spectrum intelligence is atypical, but also genuine, general, and underestimated".

As I said before, in some ways I completely agree with that statement. Conventional intelligence tests rely on certain abilities, such as the ability to understand verbal communication and a ready understanding of the environment, and are very challenging for people with autism. A person with autism might very well score lower than a typical person because they have problems with certain core skills, have problems focusing, or have sensitivities to the immediate environment, not because they lack intelligence.

But that is the nature of the disorder called autism - it disrupts a person's ability to function in a "typical" manner. It doesn't necessarily mean that they lack intelligence but it makes the application of that intelligence difficult.

Getting back to the papers, in both papers the authors gave two different intelligence tests (not really, but more on this in a minute) to several groups of children and adults who either were "typical", had autism, or had Asperger's. The first paper focused on children and adults with autism while the second focused on children and adults with Asperger's. In each paper, there were four groups - typical children, typical adults, children with autism/Asperger's, and adults with autism/Asperger's.

Some of the "typical" children and adults were in both papers although it is never spelled out exactly how many were in both or whether they were retested for the second paper. That last bit is important because the way the IQ tests were administered differed between the papers. So if the data from the first paper was just reused in the second then it might have skewed the results of the second.

All of the groups were given two different styles of intelligence tests, the Wechsler Intelligence Scales III and Raven's Progressive Matrices. The children were given the Wechsler Intelligence Scale for Children (WISC-III) and the adults were given Wechsler Adult Intelligence Scale (WAIS-III). All of the participants were given the standard form of Raven's Progressive Matrices. There are two other forms of the Raven's test, including one that is meant for younger children or children with learning disabilities.

There are two main differences between how the tests were administered between the papers.

In the first paper, the Raven's test was given to all participants with no time limit whereas in the second paper, the standard time limit (40 minutes, I think) was applied. I think the impact on the scores from that difference would be obvious.

The second difference is that the tests in the first paper were scaled according to North American norms while in the second paper Canadian norms were used. This is a little bit obscure, so let me explain.

The basic idea with modern intelligence tests is to give a bunch of questions and then score the number of correct answers. But since this raw score does not really tell you anything meaningful, these scores need to be translated into some more useful form, such as an IQ score or a percentile. To do that, the test scores are "normalized" by giving the test to a large number of people and then using the resulting scores to establish what the typical score is and what range of scores would be expected to be. The typical score is set to be an IQ of 100 (50th percentile) and 1 standard deviation is set equal to 15 IQ points.

This picture from wikipedia might make the idea clearer -

So the problem is that the two papers used two different sets of translations from the raw test scores - North American norms and Canadian norms - and that there are differences between the mappings. So you cannot directly compare the final results without first recalculating the result using the proper normal ranges.

So was the "typical" data that was reused in the second paper re-normalized with the Canadian norms or was it kept under the North American norms? And were the comparison charts from the first paper that were included in the second paper (i.e. Figure 1) adjusted as well? After reading both papers several times, I still can't say one way or the other for certain.

But let's set that aside for now and consider the intelligence tests that were used - Raven's Progressive Matrices and Wechsler Intelligence Scales for children and adults.

The Raven's test is a an old and somewhat simple test that presents a series of progressively more difficult visual puzzles. The visual puzzles take the form of shape that has a piece missing and a set of possible answers. This site has an example of what one of the questions might look like. The person taking the test has a fixed amount of time to answer as many of these puzzles as possible.

The Raven's tests were initially based on the idea that intelligence was a single, unified general ability. Under this model, you either had "intelligence" or you did not. But like all primitive models, this idea of a single unified intelligence has been gradually replaced by the idea that there are many different types of intelligence and that a person is going to have a varying level of intelligence depending on the exactly what part of their intelligence you are measuring.

Which is where the Wechsler tests come into play. These tests attempt to measure the different types of intelligence by the use of different sub tests, each with a specific focus. Under this this newer model of intelligence, Raven's test is no longer measure thought to measure "intelligence" but rather one subtype of intelligence called fluid intelligence. Fluid intelligence is the ability to think logically and solve problems in novel situations, independent of acquired knowledge

So on one hand you have the Raven's test that is measuring the ability to think logically and solve problems and on the other you have the Wechsler tests that are trying to measure actual abilities and the ability to apply what you know to a given situation.

I don't want to go into and more details about the differences between the tests because that would take a long time and I am nowhere close to an expert (or even that knowledgeable) on the subject. If you are interested in the differences between the tests or the history and current theories of intelligence, I suggest starting with the Wikipedia entry on the subject and working your way outward from there.

But let me just say that if you have spent any time with children who have even moderate autism, you would know that the differences between these two tests highlight one of the core challenges of autism. That being while it can be challenging to teach a child with autism it is equally, if not more, challenging to get the child to apply what they know to a given situation. There is a very large gap between being able to learn, actually learning, and being able to generalize that knowledge.

But getting back to the papers, the core data point from both paper is that, while the Wechsler test shows a fragmented and uneven profile of intelligence in people with autism, the Raven's test often shows a significantly higher level of intelligence than the Wechsler in the same group. Furthermore, this significant difference is not present in "typical" children and adults.

So the authors concluded that, since the Raven test is thought to measure a more general form of intelligence, the difference between the two tests represents a problem with how the Wechsler tests measure intelligence with respect to people with autism. They concluded that the Raven test is a more accurate measure of true "atypical" autistic intelligence.

As I said, I agree with this idea up to a point. But (you knew that was coming), there are quite a few problems not only the idea in general but also with the data in both papers.

As I alluded to above, this interpretation ignores the fact that people with autism (and children in particular) have a hard time with the generalization of knowledge. It is one thing for them to know something when you are teaching it to them and asking highly structured questions, it is quite another for them to be able to take that knowledge or reasoning and apply it in a novel situation.

Another problem is that this interpretation ignores the widely accepted idea that people (and again children in particular) with autism have what are called splinter skills. Splinter skills are what happens when a person has uneven development of skills and are substantially behind in some areas, ahead in others, and at the appropriate level for the rest. So instead of a person having a fairly even level of skills, they would be have an extremely uneven level of skills. For example, some children with autism will learn to read before they develop receptive or expressive verbal skills.

You can see evidence of splinter skills in the results from the Wechsler test. You can also see it very clearly if you give a child on the spectrum a developmental test such as the Battelle. So the data from the Wechsler and Raven's tests could easily be yet another example of splinter skills.

In my opinion, if you combine these two ideas, you could say that one of the core traits of autism is an uneven level of skill and difficulties in applying those skills. The other core traits are an extreme difficulty in teaching skills in the first place (at least in some people) and the behaviors of autism.

But let's set all of the above aside. Let's assume that all of the data is in the proper terms and let's assume that the difference between the test values can't be explained by known properties of autism.

The next question is whether what the two tests measure is an equally valid view of intelligence or whether the tests measure different things. Can we really look at one repetitive test of intelligence and assume that it better represents potential intelligence better than another test?

I think the answer is obvious, each test provide a different view of a person's intelligence. But to arrive at a true measure of a person's intelligence you have to consider all of the available evidence.

The next follow up question is whether the end results of the tests are directly comparable. Does a final score of the 80th percentile on one of the test mean the same thing as an 80th percentile test on the other? For this to be true, both tests would have to be an equivalent measure of a person's intelligence, i.e. they would both have to measure the exact same thing.

I think it should be obvious by now that they don't, so I think that you would have to be careful in directly comparing the results between the two tests, doubly so if you wanted to do any calculations based on the numbers.

But again, lets set that aside for now and look at the actual data underlying the papers. I normally don't like to criticize the presentation of paper directly, but if I had to describe the data in these papers I would call it sloppy and disorganized. There are numerous inconsistencies in how the data is presented, a few blatant mistakes, and neither paper gives a clear view of what the data actually is.

Just to give you an idea of what I am talking about.

In the first paper, there is no table that summarizes the data, you have to piece the individual pieces together from the text. There are figures that are presented without any real description of what the data is, such as Figure 1 that says it presents "mean subtest scores" but then charts percentiles. I have to wonder what the percentiles are of, correct answers or normalized results. And the data in figure 1 is presented only for one of the four groups in the paper which begs the question what the other groups look like.

In the second paper, there is a table (Table 1) that presents some of the data. But then that data is contradicted by the first figure in the results section and that figure is central to the results being presented. You would think that someone would have checked that. Later in the paper you are directed to non-existent figures. And again, you never are presented a clear view of the data that is being discussed. Some of the data is contained in the table while other parts of it are presented only in the text and then you only get to see one small part of the data. And then there is another strange chart, Figure 2, that presents data that is similar to the Figure 1 in the first paper but instead of means or percentiles presents scaled scores. And, again, the data for the other groups in the paper are left off.

I could put together a better presentation of the data and that is really saying something. But after sending several quality hours going over the papers and trying to put all of the pieces together, I have some concerns about how the data was actually analyzed.

The main result in both papers was that the percentile difference between the Wechsler and Raven's tests was significantly larger in most of the autism/Asperger's group than it was in the "typical" groups. Most of the groups (with the exception of the Asperger children) did better on the Raven's test than they did on the Wechsler. But the the Asperger adults and both the autism groups showed a significantly larger improvement than the others.

Which leads me to my main problem with the data - how the difference was calculated. To put the problem simply, you cannot accurately compare the difference between two percentiles and get a meaningful result because percentiles themselves are not linear. I think I can illustrate this best with an example.

If I have two numbers - 5 and 1 - that represent the differences between two sets of percentiles (50 and 55, 98 and 99), which one would you assume represents a greater change in intelligence? The obvious answer is of course 5 - the change from the 50th percentile to the 55th percentile.

You would assume that a change of 5 percentiles always represents a greater change in intelligence than a change of 1 percentile. But in this case you would be wrong, the increase from the 98th percentile to the 99th percentile represents a greater change in intelligence than the 50th percentile to the 55th percentile does.

You can see this if you change the percentiles into IQ points (see above). The 50th percentile represents an IQ of 100, the 55th an IQ of 102, the 98th an IQ of 131, and the 99th an IQ of 134. So the 5 percentile change equates to a change in IQ of 2 while the 1 percentile change represents a change in IQ of 3 IQ.

The reason for this discrepancy is that percentiles, at least as they are used in this paper, are meant to provide a relative ordering of everyone who takes a particular test. So scoring in the 80th percentile means that you did better than 80% of the people who took the test and worse than 20%. The percentiles do not tell you anything about the magnitude of the difference between the groups.

So, even if you had a set of percentages that are all from the same test, you could not subtract them and do anything meaningful with the results. You cannot take a set of differences and order them from the smallest to the largest (which is required for the statistics used in the second paper) because you do not know which change in percentile represents a larger change.

The first paper's main conclusion is in doubt because the statistics not only assume the ability to order the results, but also assume a linear scale and a normal distribution of the data. Even a quick look at the statistics shows that the distribution cannot be normal (e.x. range 0 to 100, mean 36, SD 26) and the differences aren't ordinal let alone linear.

The second paper at least used statistics that did not depend on a normal distribution. But even still, the main statistics depends on the data being ordinal.

So when the second paper says this in the results section -

"The Asperger adults demonstrated an advantage of RPM over Wechsler FSIQ that was significantly greater than that of the non-Asperger adult controls, Mann-Whitney U=366.5, p<.01"

That statement is completely unsupported by the data. In pure numerical terms, the difference might seem to be larger, but in terms of actual increased of intelligence that statement is very much in doubt.

Another quibble with the results is the use of averages (means) to represent the group rather than a median. If you have a set of non-linear values such as these percentiles, if really isn't valid to take an average because it is going to misrepresent where the middle of the group is. That goes double when the data is badly skewed, as is the case of the Asperger adults' Raven's test in the second paper. In that case the "average" was 74 but the standard deviation is 50(!). For that to happen, the bulk of the data has to be well below the 74th percentile which means the median value would be significantly lower.

Although, to be fair, there are some valid secondary results. For example, when the paper reports that "the Asperger adults’ Wechsler VIQ was significantly higher than their PIQ (55th vs. 39th percentile), Z =3.43 p<.01", that could be valid because the data is in the same terms and the statistics were (apparently) used properly. What it means without the main result though is an entirely different question.

Who knows, maybe I am missing something fundamental about the data here or am completely wrong about the percentile thing. But from that I can see in the paper and what I know about statistics, it looks like the conclusions are based on a faulty analysis. If anyone sees something obvious that I missed, please point it out in the comments.

I really could go on to point out quite a few other problems with the data such as the fact that the differences are percentiles aren't even based on the same test, or that the number of participants in the papers is rather small, or that confounding social/demographic factors weren't adjusted for. But since the main result is likely invalid, I don't really see the point in beating a dead horse.

Whew. Anyone still reading this?

Now that I have rambled about these two papers far longer than I had wanted, let me just say that while I think these two papers are mostly worthless, the idea that people with autism can be intelligent isn't. There is nothing implicit in autism that says that everybody who has autism is automatically intellectually disabled, although there appears to be a large group that is.

What I think is obvious is that autism disrupts a person's ability to apply their intelligence. Even if you throw out every problem that I pointed out with these papers and took their data at face value, the data would fully support that idea that there is a break between what a person can do and what autism allows them to do.

References

1. Dawson M, Soulières I, Gernsbacher MA, Mottron L. The level and nature of autistic intelligence. Psychol Sci. 2007 Aug;18(8):657-62. PubMed PMID: 17680932.

2. Soulières I, Dawson M, Gernsbacher MA, Mottron L. The Level and Nature of Autistic Intelligence II: What about Asperger Syndrome? PLoS One. 2011;6(9):e25372. Epub 2011 Sep 28. PubMed PMID: 21991394.

Study: Auditory-Motor Mapping Training

2011-10-08T22:23:00.000-04:00

As I know all too well from personal experience, getting a non-verbal child with autism to talk can be a real challenge. Sometimes traditional approaches such as speech therapy and ABA work and other times they don't. There doesn't seem to be any rhyme or reason as to why a child with autism can't or won't talk or why these traditional approaches work or not.

So some of the time you have to try something strange or different in order to help a child learn to talk. That is definitely the case in a recently published paper were researchers tested a method called "Auditory-Motor Mapping Training" and found that it did help non-verbal children with autism learn to talk.

If you look at what this group is doing, which is basically singing words and playing the drums, it sounds a bit outlandish. But you can't argue with success. And, if you take the time to think really think about it, it does make a certain type of sense.

As we have been teaching the twins to talk, first with sign language, then with PECs, and now with an AAC device, one thing that we have noticed is that they seem to need some extra stimulus in order to learn a word. It is as if they need a physical gesture (sign, AAC) or some visual sign (PECs, AAC) in order for them internalize a word. We have also seen them use hand gestures (i.e. signs) or pictures in order to help their recall of a word.

So I am not surprised at all that pairing words with some extra stimulus would be effective. Maybe part of the problem in autism is that the typical auditory/speech pathways in the brain aren't functioning and you have to take the back door approach to get the words into the brain.

The abstract of the paper is below and the full text of the paper is freely available here.

Auditory-motor mapping training as an intervention to facilitate speech output in non-verbal children

Abstract
Although up to 25% of children with autism are non-verbal, there are very few interventions that can reliably produce significant improvements in speech output. Recently, a novel intervention called Auditory-Motor Mapping Training (AMMT) has been developed, which aims to promote speech production directly by training the association between sounds and articulatory actions using intonation and bimanual motor activities. AMMT capitalizes on the inherent musical strengths of children with autism, and offers activities that they intrinsically enjoy. It also engages and potentially stimulates a network of brain regions that may be dysfunctional in autism. Here, we report an initial efficacy study to provide 'proof of concept' for AMMT. Six non-verbal children with autism participated. Prior to treatment, the children had no intelligible words. They each received 40 individual sessions of AMMT 5 times per week, over an 8-week period. Probe assessments were conducted periodically during baseline, therapy, and follow-up sessions. After therapy, all children showed significant improvements in their ability to articulate words and phrases, with generalization to items that were not practiced during therapy sessions. Because these children had no or minimal vocal output prior to treatment, the acquisition of speech sounds and word approximations through AMMT represents a critical step in expressive language development in children with autism.

References

Wan CY, Bazen L, Baars R, Libenson A, Zipse L, Zuk J, Norton A, Schlaug G. Auditory-motor mapping training as an intervention to facilitate speech output in non-verbal children with autism: a proof of concept study. PLoS One. 2011;6(9):e25505. Epub 2011 Sep 29. PubMed PMID: 21980480.

Jabberwocky of the Day : How Do I Make My Child Autistic

2011-10-07T05:00:00.000-04:00

On the website of the Autism Society of Kent County is a person calling themselves "z" who asks the following question -

I’ve heard that autistic youngsters are incredibly proficient and intelligent. What can I do to make sure my little one will be autistic when it is born?

I am not sure whether this person is serious but utterly clueless about autism or whether they are just being a complete ass. But I think this picture is the appropriate response to questions like this.

Talk about completely missing the reality of autism. And to make matters worse, someone actually tried to make the case for the "benefits" of high functioning autism in the comments -

High Functioning Autism does come with some beneficial benefits over the other types of autism. Generally, High Functioning Autism suffer with difficulties with social interaction. This usually does not adversely impact their ability to interact with others on a daily basis at a basic working level. Although they may be labeled as being overly serious or earnest, and to be lacking in the ability to converse in “small talk” conversation. ....

The person goes on for some length but seems to completely miss the point that autism - even "high functioning" autism is a profound disability that you shouldn't wish on your worst enemy let alone your child. At least the other responses to the question seem to be based in reality, including the "answer" to the question at the top of the page-

"Have confidence in me. You do NOT want your kid to be autistic."

I second that answer, you DO NOT want your children to have autism. But I think the simple fact that someone could even ask a question like that shows that the "autism gives me gifts" rhetoric can actually do some serious damage.

Study: Epilepsy in autism

2011-10-06T09:24:00.001-04:00

Yet another association with autism that is too often forgotten. In this longer term study, 33 out of 150 children diagnosed with autism went on to develop epilepsy by the time they were in their twenties. In the majority of these cases, the seizures began after the children 10 years old.

The study abstract is below.

Epilepsy in autism: features and correlates.

BACKGROUND:
Epilepsy occurs in a significant minority of individuals with autism, but few long-term follow-up studies have been reported, so the prevalence, features (type of seizures, age at onset and severity, etc.) and correlates (IQ history of regression, family history) have only partially been identified.

AIMS:
To undertake a long-term follow-up study of individuals with autism in order to better characterise the features and correlates of epilepsy in individuals with autism.

METHOD:
One hundred and fifty individuals diagnosed with autism in childhood were followed up when they were 21+ years of age. All individuals were screened for a history of possible seizures by parental/informant questionnaire. An epilepsy interview was undertaken and medical notes reviewed for individuals with a history of possible seizures. The features and correlates of epilepsy were examined using survival and regression analysis.

RESULTS:
Epilepsy developed in 22% of participants. In the majority, seizures began after 10 years of age. Generalised tonic-clonic seizures predominated (88%). In over a half (19/33), seizures occurred weekly or less frequently and in the majority of individuals (28/31) they were controlled with the prescription of one to two anticonvulsants. Epilepsy was associated with gender (female), intellectual disability and poorer verbal abilities. Although the presence of epilepsy in the probands was not associated with an increased risk of epilepsy in their relatives, it was associated with the presence of the broader autism phenotype in relatives. This indicates that the familial liability to autism was associated with the risk for epilepsy in the proband.

CONCLUSIONS:
Epilepsy is an important medical complication that develops in individuals with autism. Seizures may first begin in adolescence or adulthood. Putative risk factors for epilepsy in autism were identified and these will require further investigation in future studies.

References

Bolton PF, Carcani-Rathwell I, Hutton J, Goode S, Howlin P, Rutter M. Epilepsy in autism: features and correlates. Br J Psychiatry. 2011 Apr;198:289-94. PubMed PMID: 21972278.

The Autism Science Foundation's Makeover Failure

2011-10-02T23:46:00.000-04:00

A little over a month ago I pointed out some curiosities about the Autism Science Foundation. Since that time the foundation has launched a new web site and updated their "2010 Annual Report" web site, so lets see how they did with their update

Complaint #1 : PDD-NOS is Pervasive Developmental Disorder - Not Otherwise Specified

Over two years ago, I pointed out that the ASF's web site was calling PDD-NOS the wrong thing - "Pervasive Developmental Delay - Not Otherwise Specified". That inaccurate description is still on their new redesigned website.

I can understand the initial version of the site having wrong information but come on. If one of the goals of the foundation is to "provide information about autism to the general public" and they can't even get the name of the condition correct, how much trust do you think you should place in other things they say?

Complaint #2 : The GFCF Diet

I also pointed out that their information about the GFCF diet was misleading. They claim that children on the GFCF diet have lower bone densities as if it were a proven fact when, in fact, there is only one small study that showed that children on this diet might have lower bone densities. And that study was not able to establish cause and effect. As in the study could not say whether the diet caused the lower density or whether the density problem was caused by the underlying problem that the diet was treating. Given what I have gone through with my children to get their levels of nutrients up to where they need to be, my money would be on the later.

The ASF also claims that a "large-scale study of the safety and efficacy of the GFCF diet indicated that children on the diet had similar outcomes to those who were not on the diet". Again, this claim is lacking evidence. There are some studies of the effectiveness of the diet but most of them would not qualify as "large-scale" and precious few are actually set up in such as way as to test the effectiveness of the diet.

And for that matter, would it really hurt the ASF to include footnotes citing the source of their claims? Most other places that claim to offer "scientific" based advice do that as a matter of course.

Complaint #3 : The Annual Report

Back in May the ASF announced their first annual report and put up this fancy web site that promised more information in June. Well, June turned into July and then into August and the ASF still had not make good on that promise. Finally, during this latest makeover, the ASF got around to updating their anual report web site.

But they didn't provide the information that they promised - they simply took down the references to June 2010. So if you look under the "Financials" section of the site you will see "Financials Coming Soon!" instead of the something along the lines of Financials Coming in June.

Do you really want to donate to an organization that seems unable to make good on its promises to provide a breakdown of exactly how they use their money?

Complaint #4 : Growing Older Makes It Better

Under their "Treatment Options" section they make some rather questionable claims about the prognosis for children on the spectrum -

Remember, autism is pervasive developmental delay, which means children will continue to develop, learn, gain skills and adapt as they age. Sometimes children lose their diagnosis altogether, leading to claims of recovery. Keep in mind that symptoms of autism change as a child develops.

The unfortunate truth is that not every child on the spectrum will continue to develop and gain skills as they age. Sometimes getting older will help develop skill but that is far from a given and has not been demonstrated in any sort of scientific study.

This idea touches on what is likely the single hardest thing for parents to accept about autism and what makes autism different from other development disorders. You have no clue what the outcome for a particular child will be and no way to predict what will actually improve the outcome. The most frustrating thing is that what works for one child may not work for another - even if that other child is genetically identical. And there doesn't seem to be any rhyme or reason as to why this is the case.

In other development disorders you have a better idea of what the outcome is going to be from the start and , in some cases, a better set of tools to work with. With autism the range spans from completely functional with no trace of autism (i.e. recovered) all the way down to completely unable to function in any way. And no one can tell you if your child is going to be functional or non-functional or what specific treatments or therapies will actually be effective at helping them move along.

The one thing that I can tell you is the worst thing you can do is sit back and assume that they will get better with age. That is why this idea that children "will continue to develop, learn, gain skills and adapt as they age" is so harmful. Some children may grow on their own while others will require constant work to move forward. You can't assume that they will get better simply as a function of aging.

Complaint #5 : Recovery

Apparently the ASF is against the idea of "recovery" from autism -

“Recovery” can be a useful concept, but only if defined as the ability of individuals with ASD to lead fulfilling lives, given the challenges of their condition.

No, recovery is a useful concept because it implies that a person has recovered from autism. The way that this is phrased presupposes that autism is a life-long condition and is built into a who a person is. For a foundation that claims to be science based that is a very far-fetched assumption.

Science has no clue what causes autism or what biological effects it has on the body let alone any clue as to whether the effects are permanent and unalterable. There are certainly hints that it is permanent but there are also hints that it is an ongoing biological process. Yet the ASF seems to be against looking for a real cure for autism.

The Level and Nature of Autistic Intelligence II: Where did the study go?

2011-10-01T12:15:00.000-04:00

Now this is just strange. Earlier this week a new study by Isabelle Soulières, Michelle Dawson, Morton Ann Gernsbacher, and Laurent Mottron was published on the nature of intelligence in Asperger Syndrome.

The purpose of the study seemed to be to show that "autistic spectrum intelligence is atypical, but also genuine, general, and underestimated" and that having Asperger's might give you some sort of intellectual advantage.

Or in other words, yet another mostly worthless study from a group of people who have a long and distinguished track record of denying the realty of autism.

Yes, it is nice that these four have stumbled onto an intelligence test that might show that some people with autism aren't as intellectually challenged as other intelligence tests suggest. And, having been through a formal IQ test with my youngest daughter, I can completely understand that people with autism can score lower than they might otherwise because of how most IQ tests are structured.

But that is really the point - autism is a disability that impairs your ability to function. It doesn't matter if you are the smartest person in the world if you are unable to apply it in your daily life.

Regardless, that isn't the strange thing here - I would actually be surprised if this group of researchers put out a paper that didn't say something like this. No, the strange thing is that the study seems to have disappeared from the journal's site.

Here is the link to where the study is supposed to be. If you go there all you see is a page that says "Article not found".

The press releases for the study are still on EurekAlert and ScienceDaily but if you follow the link the journal's site they study isn't there. I tried several different ways of finding the study but it does not seem to be on the journal's site anywhere. But, if you look at Google's cached version of the page you can see that the study was on the journal's site on Sept 29 as of about 3 AM EST.

So the study was published at one point but then it was removed. I wonder what happened to it.

UPDATE : As pointed out by Jonathan in the comments, the paper was temporarily pulled at the request of Michelle Dawson. The reason? Well, it sounds the best in Ms. Dawson's own words -

I've now made a series of tweets about how PLoS-ONE changed the text of our just-out paper, in harmful and unethical ways (calling autistics "patients" is the worst; also imposed person first language), without in any way checking with the authors.

Links, more info, etc, in my recent tweets http://twitter.com/#!/autismcrisis

Am just stunned. Never could have anticipated this. That's a lot of work effectively wrecked. A lot of the paper is unreadable. Am guessing the abstract with harmful text imposed by PLoS will go up on PubMed too. Unreal. Some person somewhere decides autistics are sick and, what, aren't persons (or whatever the problem is) and wrecks a paper, unilaterally.

I can see that calling someone a "patient" is a horrific crime against nature and completely unethical. Yeah, uhm, I wonder if anyone has ever taken the time to explain to Ms. Dawson exactly what the word "unethical" means.

Combating Autism Act Renewed

2011-09-30T16:09:00.001-04:00

The bill reauthorizing the Combating Autism Act for another three years was signed into law today by President Obama. This bill will provide 693 million dollars over the next three years for funding research, surveillance, and education activities related to autism.

If you are interested, there is more information about the history of the re-authorization under both the initial Senate bill S.1094 and the final House bill H.R.2005 that was passed into law. There is also a breakdown of the costs provided by the Congressional Budget Office.

The text of what the Combating Autism Act is available here. If you aren't familiar with what the Combating Autism Act is and isn't, you might want to take the five minutes to read what it is meant to accomplish

On a slightly infantile note, I would like thank the Autistic Self Advocacy Network (ASAN) for their hard work in opposing this important legislation. Their misunderstanding and misrepresentation of this bill came to nothing and the bill was passed in spite of their objections.

So to ASAN I would just like to say.

Nana-nana boo-boo

P.S. Yes, I understand that services and supports for adults with autism are an ever increasing and urgent need. But did ASAN really have to campaign against badly needed research into the nature of autism and educational services for children? Whose needs do you think that ASAN is advocating for because it sure isn't the needs of the majority of people with autism.

Jabberwocky of the Day : John Elder Robison on the Male Female Autism Imbalance

2011-09-28T11:47:00.000-04:00

As was first pointed out on Autism's Gadfly, John Elder Robison is once again talking about things that he doesn't seem to have the faintest clue about. Last time, Mr. Robison was making completely inaccurate statements about CDD. This time, Mr. Robison is talking about the the fact that autism is far more common in males than females and coming up with some rather far fetched ideas to explain the discrepancy.

As most of you probably know, autism is about four times more common in boys than girls. This gender skewing was first noted all the way back in the 1940s when Kanner "invented" autism and has remained a constant property of autism even as as the number of children with autism has exploded from 1 in 10,000 in the 1940s to 1 in 100 today.

What you may not know is that a similar gender skewing is commonly seen in other childhood disorders as well, such as ADHD and intellectual disability. The exact ratio of boys to girls changes with the disorder but in general boys are more likely to have a developmental disorder than girls. So, in reality, there doesn't seem to be anything that different about autism in this regard.

The question is then why are boys more likely than girls to have development disabilities. In my opinion, the general answer to that question is built into the question itself. Obviously, there is some different between males and females that either makes males more susceptible or females less susceptible to these conditions. Either the reason is genetic, biological, social, or (most likely) some combination of the three.

The trick has always been to identify the causes of the conditions and then to work backwards to determine why males are more affected than females. But since, when it comes to autism (and ADHD), we don't have any real clue as to what the the cause of the condition is, we don't have any real clue as to why the difference is there.

But that doesn't stop Mr. Robison from coming up with some rather, uhm, interesting ideas about why this difference exists. He first seems to suggest that families with children on the spectrum are more prone to having boys than girls -

If we assemble a collection of families in which there is at least one autistic child, that distribution of sons and daughters is not 50/50. It favors the males.

But I have never run across any study that has even suggested that families who have children on the spectrum are more likely to have boys than girls. This claim would go against the generally held (and proven) idea that the chance of having a boy or a girl is roughly 50/50.

It would be a fairly simple matter to survey a large number of families who have with multiple children where at least one child has autism and see if this were true. But I would like to think that, if this claim were true, someone would have noticed the discrepancy and published on the subject by now.

In fact, the largest autism sibling study to date that was published just this year and included data on 664 sibling showed (roughly) the expected 50/50 breakdown between the genders.

Who knows, maybe Mr. Robison's proposed relationship has been demonstrated in other studies and I just missed it. But if so, I think he needs to show us the data and not just make unsupported statements.

Next, Mr. Robison goes on to show an astounding ignorance of basic chance when he suggests that -

One explanation is that some parents have a son with autism and stop having children. So the girls that might even the male/female ratio are never born. I think that explanation may be true today, but what about the ages before modern birth control?

Frankly, I don't even understand how this could work. It seems like Mr. Robison is suggesting that first born children are more likely to be a boy than a girl but that idea is just plain nonsense. The chance of having either a boy or a girl in any given pregnancy is almost 50/50. That fact is as true for the first child as it is for the last child.

Maybe he is suggesting that a first born boy is more likely to have autism than a first born girl but then the chances even out after the first child? But that would not make any sense either. If boys and girls both had the same chance of having autism then you would have the exact same chance of having a first born boy with autism as you would a first born girl.

Then Mr. Robison makes some rather strange claims about the "historical record" (i.e. pre 1940) of people with autism -

Critics might say that we don’t know how autism was distributed among the sexes a hundred years ago, and that’s true. The autism diagnosis has only existed for sixty-some years. Yet we do have strong anecdotal evidence. Using that, some modern day people have “diagnosed” historical figures with autism based on what we know of them and their lives. How many of those individuals are female? Almost none.

Those “post-mortem diagnoses” are certainly subject to challenge and I’m sure some are even wrong. That said, they can’t all be wrong and the male-female ratio in the known historical record of autism remains strikingly tilted toward the male side.

There are so many things wrong with this argument that it is hard to know where to begin.

Perhaps the worst part is the idea that a post-mortem diagnosis is evidence of anything besides someone having way too much time on their hands. You simply cannot diagnosis someone based on little snippets of what is published about their life.

It is hard enough to diagnosis an adult with high-functioning autism who is sitting in front of you with their parents and has a complete record of their development. When you add in a span of hundred years or so, several changes in culture, a selective report of only parts of their life, and the inability to talk directly to the person, then making an accurate diagnosis becomes next to impossible.

Then the idea that "they can't all be wrong" is just silly. Yes, every post-mortem diagnosis can be wrong and, given the challenges in making an accurate historical diagnosis, I would be willing to bet that almost all (if not all) of them are in fact wrong.

And calling a post-mortem diagnosis "strong anecdotal evidence" does a disservice to the word "strong" as well as the word "evidence". The idea that speculation based on extremely limited historical information is actually "anecdotal evidence" let alone "strong" is just absurd.

But, for the sake of argument, lets assume that these absurd statements are true and that the historical record does have more males than females with autism. Does that tell us that there were more males than females in the past or does it tell us that, historically, men were much more likely to be written about than women?

Anyone with even a cursory knowledge of historical literature should know the answer to that question.

Perhaps the only intelligent thing that Mr. Robison has to say on this subject is that idea that female fetuses with autism are less likely to survive -

Geri Dawson suggested another possible explanation for the male-female imbalance. What if girl embryos are actually more susceptible to some factor implicated in autism, but in a different way? The factor that produces autistic baby boys might result in unsuccessful pregnancies when the fetus is female. The result – fewer baby girls with autism are born

If this idea repeated by Mr. Robison is correct then you would expect to see a noticeably higher rate of autism in children with prenatal complications. Having a history of miscarriages means that you have a greater chance of having complications in future pregnancies. But the most recent study of the topic suggested that there is no such broad association.

Furthermore, in some of the known genetic causes of autism the exact opposite happens - the male child is either more effected or has a lesser chance of surviving. A male child with Rett Syndrome is very unlikely to survive while a female can because of her double X chromosome. And in Fragile X, a female is somewhat protected against having the symptoms of the disorder, again because of genetic differences.

So, if anything, I think this idea might be correct if it was flipped. Rather than female fetuses not surviving, it seems more likely that being female offers some sort of protection against developing autism as well as other development disabilities.

But again, maybe there is data out there that shows a higher rate of miscarriages in mothers who children have autism. But to me it sounds like grasping at straws. Perhaps it would be better to have some actual concrete data to support a claim rather than just idle speculation.

I think the most disturbing part of all of this isn't the nonsense itself but rather Mr. Robison's position at Autism Speaks. It doesn't really matter than he has some really strange ideas about autism or that he seems to misunderstand some basic science. We all have areas where we are less than knowledgeable but still like to pretend we know what we are talking about.

No, I think the most disturbing part is that Mr. Robison serves on the scientific advisory board of Autism Speaks and helps select what science they will fund. If a non-expert like myself can see the gaping holes in his ideas then what does that say about the projects he would suggest funding?

Inconceivable

2011-09-23T10:10:00.000-04:00

I know that this isn't autism related, but scientists with the OPERA experiment are saying that they might have observed a small particle called a neutrino traveling faster than the speed of light. If this result is true then it will overturn much of what we think we know about how the universe operates.

As astounding as that result would be if it were found to be true what I think is more astounding is how the scientific community is responding. Here you have something that would overturn decades of dogma and challenge everything that we think we know and yet the reactions are cautious and balanced.

I haven't seen anyone spouting off about how we "know" this result can't be true or how this question has been asked and answered already. No one seems to be launching personal attacks against the scientists involved. And no one seems to be overselling the result or claiming that this result "proves" that all we think we know about physics is wrong.

In short, the parties involved seem to be acting in a rational, scientific manner. They found a result that they didn't expect and are seriously examining it to see if it is true - even though it goes against everything that they think they know about physics.

Only time well tell if the speed of light isn't the absolute limit that we though it was but scientists acting like scientists is a nice refreshing change.

Now if only the world of autism could do the same.

Study: Immune System Disruption Implicated in Autism

2011-09-22T10:13:00.000-04:00

There have been a couple of good studies published in recent weeks that look at the possible connection between disruptions of the immune system and autism. But one in particular that was published just last week in PLoS One looks to be the best of the bunch.

I have not read it in depth yet so I might be getting some of the details wrong. But in general, it looks like these researchers managed to take the many rare genetic mutations that have been seen in autism and demonstrate that many of these mutations converge on biological paths that control immune system signaling. The researchers suggest that these disruptions have the potential to alter typical brain development and lead to the symptoms of autism.

I would normally include the abstract of the study but I think these paragraphs from the conclusion puts the findings into prospective -

Interestingly, there is also mounting evidence at the cellular and tissue levels that more in depth investigation of an immune component is warranted in ASD. For instance, multiple studies have demonstrated altered cytokine profiles in ASD patients, and altered TGF-B concentration in serum and CSF correlates with disease severity. Others have described various autoimmune phenomena including autoantibodies to neural antigens and maternal-fetal cross-reactive neural antibodies. There is also indication of altered innate cellular immunity in ASD, such as differences in gene expression and altered response to immunostimlulatory ligands in both natural killer and monocytic cells from ASD patients. Post-mortem brain tissue from ASD patients shows increased microglial density in grey matter, an activated morphology, and secretion of a cytokine profile consistent with a pro-inflammatory state, most prominent in the cerebellum. Moreover, microglia from MeCP2- null mice—a model of the Autism Spectrum Disorder Rett Syndrome—produce a conditioned media that damages synaptic connectivity via a glutamate-excitotoxicity mechanism. While all of this work provides post-hoc evidence for altered immune response in ASD, our results suggest a direct link between implicated genes in ASD and molecular pathways involved in immune signaling.

This considerable attention to the immune response in previous ASD research has resulted in two prevailing theories: one suggests exogenous factor(s) stimulate neuro-inflammation during development, while the other postulates autoimmune activation causes ASD pathology. However, it is equally possible—as our results support—that the mutations described in ASD result in aberrant signaling regulation of immune cells during neurodevelopment. This could result in cell-autonomous activation and/or improper response to otherwise nominal stimuli, such as occurs in the autoinflammatory syndromes. Alternatively, as glia are increasingly implicated in normal formation of synaptic connectivity —and we have demonstrated a significant proportion of ASD-implicated genes appear to be glial-specific—it is possible that genomic aberrations ultimately funnel through core signaling pathways of glial cells to disrupt formation of neural networks independent of an inflammatory mechanism. In support of this notion, a number of recent reports have demonstrated that these same cytokine signaling pathways are central to proper brain development. Furthermore, signaling through the NFkB pathway has been shown to be important in synaptic plasticity independent of an inflammatory mechanism.

The study is open access so go read it if you are interested in the subject.

References

Ziats MN, Rennert OM. Expression Profiling of Autism Candidate Genes during Human Brain Development Implicates Central Immune Signaling Pathways. PLoS One. 2011;6(9):e24691. Epub 2011 Sep 15.
PubMed PMID: 21935439. DOI: 10.1371/journal.pone.0024691

Treating Autism : The First Five Years

2011-09-16T00:32:00.002-04:00

This summer and fall has been somewhat of a transition time for my family. The twins, after a year delay, have finally left the early intervention system and are now in kindergarten.

It might be too early to call it, but it seems like the twins have made the transition from the one on one supports that they have been receiving for years to the public school system without too many problems. They are still receiving special educations services and spend at least half of their time in a support classroom but they are also spending a great deal of time in the mainstream classroom as well.

Baby C, even though she two years younger than her sisters (OK, she really isn't a baby anymore), will be following her sisters into kindergarten next year. I expect that Baby C will be able to make the same sort of graceful transition next year that her sisters did, although that is certainly not a given. She is higher functioning but has more behaviors to contend with than her sisters do. But that is a story for another time.

It has taken the twins and us five long years of work to get to this point and, while we had once hoped that they would be "recovered" from their autism by now, they certainly have come a very long way. If you compared what they looked like and how they acted back them to what they do now you might not even think they are the same children.

Six years ago, the twins were normal babies. They were developing at the typical speed and meeting all of their milestones at the appropriate time. Or I should say that they were meeting all of the milestones at the appropriate times for twins, twins do develop differently than single babies. We had no reason to think that anything was wrong.

About six months after that they started to change. Their development stalled (for a lack of a better word) and they started slowly developing the symptoms of autism. I talked about this period in their lives a few months back, so I am not going to rehash it now.

Five years ago when they received their autism diagnosis, they were very different than they were just six months earlier.

They did not look at people, they did not point, they did not understand or show emotion, nor did they respond to voices or any other sounds. For a while there we (and several audiologists) though that they had gone deaf. You could walk up behind them and scream at the top of your lungs and they would not show any sort of reaction whatsoever. They certainly weren't responding to either verbal or non-verbal communication. Nor could they talk or imitate any sort of sounds.

Interestingly enough, at this point they had very few rigidities or restricted interests. They did a little bit of stimming but that much more than a "typical" child does. Their rigidities and restricted interests didn't really become noticeable until a few years later.

They also had some health problems. They both had almost constant runny noises and were sick quite frequently. They had almost constant eczema. They had an extremely limited diet and, not to be gross, their stools were not what they should be.

If you look at the twins now, they do make eye contact and can read emotions from people's faces. They still can't talk very well (one to two words at a time) but their verbal and non-verbal communication skills have developed. On a good day they are only a year or two behind where they should be in receptive communication.

They don't have the social skills that they should but they do interact with adults and children as best as they can. Even better, they are showing an interest in other people and sometimes are trying to be social. Over the summer, one of the twins walked up to a peer and said "Hi" to them completely independently.

To those of you who don't deal with moderate to severe autism that might seem like a trivial thing, but to those of us who do, something like that makes your entire week. Not to go off on a tangent but I think that is one of the reasons that adult self-advocates drive me to distraction. They are out there pontification about how autism is just a neurological different and not a disability and here we are (and many families like us) just happy that our children made an attempt to talk to another child. It is two completely different worlds.

But enough about that, the real point here is how we got from where we were five years ago to how we got here.

Over the past five years, we have gone from denial to hope for a quick cure to the understanding that helping a child deal with autism isn't a sprint to the finish line. It is a long drawn out affair that will take dedication, years of work, and no small amount of luck. And even after all of that, there is no guarantee that anything you do will make the slightest dent in the autism.

Over the past five years we have waged a constant war against obsessions and rigidities that had appeared and threatened our girl's ability to function on their own. After we let one or two obsessions develop to the point that they became real problems in everyday life (anyone else have a child who refused to walk in public for a year straight?) we learned that we had to act quickly when the behaviors first appeared and stop them from becoming a problem. You can't - and shouldn't - break all of the behaviors, but you certainly have to break the ones that interfere with their ability to function.

We also spent three long winters tackling extreme mood swings and self-injurious behaviors in one of the twins until we finally understood that she had something like seasonal depression and treated it as such. All it took (and still takes) to "cure" these problems is a little while sitting in front of a really bright light in the morning and a small dose of melatonin in the evening.

But probably the most important thing that we did was accept the fact that "mainstream" (pediatric) medicine doesn't have a lot to offer children on the spectrum. Don't get me wrong here, I am a very firm believer in following the science and actually having something substantial and real behind what you do (as you should be able to tell from the other posts here).

But, when it comes to autism, mainstream medicine tells you exactly two things. First, it tells you that there is no possible relation between autism and vaccines. Second, it says that some ambiguous thing called early intervention is the key to a better future. But it certainly doesn't define exactly what this early intervention is or what forms of early intervention will work best for your children.

Five years ago, we walked out a well known children's development center with a shiny new diagnosis and a stack of papers with phone numbers. The good people at the center were kind enough to inform us that our twins had autism and give us a stack of scripts for doing some standard tests. They did not help us pick which specific therapies would be appropriate for our children nor did they even tell us which of the many providers on the stacks were any good.

Making these difficult choices was left completely up to us. Even though neither my wife nor I knew the first thing about picking a style of behavioral therapy, occupational/physical therapy, or speech therapy, we were left completely on our own to find our own way.

Luckily for us (and even more luckily for the twins), we had an extensive support network that we could draw on to help us find our way through the process and select appropriate therapies for our children. But even with that we have had some good experiences and some bad.

And that is as far as the mainstream took us - behavioral therapy (ABA), speech, and OT. Although the OT has been less than helpful for most of the time and the speech wasn't much better for the first three years.

I have to say though that without the ABA the twins would not be entering kindergarten the way they are now.

But if we had left it at that they twins would not be were they are today either. We took it a step further and found people who helped us deal with the other biological issues that twins had. We have used treatments that some would label as quackery or woo. Some of them of worked, some of them haven't, but there was a specific reason that we tried each and every one of them.

We have used three biomedical treatments that I believe have played a large role in allowing the twins to progress as far as they have - the gluten-free, casein-free diet, zinc supplements, and melatonin. There are a slew of other things that they have taken and still take that help to a greater or lesser degree but those are the big three. If you take one one of those three away, the twins would probably not be where they are today.

This is one area were the "science" based crowd drives me nuts. They are out there saying that there is "no evidence" that these things work and therefore they don't work and you shouldn't try them. While it is true that these treatment are not supported by large scale trials and don't have proof" that they are an effective treatment for autism, this lack of evidence does not mean that they can't or don't work.

Like so many other things when it comes to autism, the answer for whether something will work for your child is it depends. It depends on the specific symptoms of autism that your child has and whatever biological problems they have going on.

If we had listened to the "science" people then our children would not be were they are today. My opinion is that if you have a solid reason for trying something (and not just because so and so suggested it), understand the possible benefits as well as the risks, and are can try it safely, then don't limit yourself to what "mainstream" medicine thinks is true. And don't listen to the "no evidence" crowd either. Instead, spend some time learning about the subject, talk to some people who actually understand the subject, and make and informed decision about whether it is appropriate for your child.

Over the past five years we have also tried to accommodate the twin's sensory needs. The idea that children with autism have broken sensory mechanisms is something that mainstream medicine is finally now beginning to wrap their heads around. It will be another ten or fifteen years before there are any real options "evidence-based" sensory treatments.

In the meantime, parents will continue to try anything and everything to help their children regulate better. For the twins, their big sensory need (right now) is to be immersed in water. They love taking a bath every day and they absolutely love being able to go swimming everyday (just don't tell they we are going to have to close the pool in a few more weeks). We only hit on this need for water last summer but the effect is rather amazing. If you give them 30 minutes a day in water then they are more relaxed an are better able to concentrate.

Along the way to finding this need for water we tried the weighted vests, weighted blankets, lights, sounds, lack of light, lack of sound, deep pressure, etc, etc, etc. Some of these things worked, some worked for a time, and some did absolutely nothing.

And of course, probably the most important element in the twins growth is their willingness to work. If they were not willing to apply themselves them no amount of therapy, biomedical treatments, or sensory help would be able to do anything.

Looking back over the past five years, I think the thing that has made the most difference is the willingness to try new things and to adapt to the every changing challenges of autism. While five years ago I might have wished for my children to be "typical" by now, I am very proud of all of the things they have been able to accomplish in spite of having the disability called autism. I only hope that in another five years I can say that they are still making the same sort of progress.

Induced Autism

2011-09-10T11:10:00.001-04:00

I ran across a recently published paper the other day that had a long title that didn't make much at first glance - "Prenatal exposure to ß2-adrenergic receptor agonists and risk of autism spectrum disorders". According to the abstract¹, this paper looked at exposure to ß2 adrenergic receptor agonists during the prenatal period and found that, in general, they did not increase the risk of having a child with autism.

So at first I though it was simply yet another paper ruling out a relationship between a type of drug and autism. But then there was this little line that caught my attention -

However, terbutaline exposure for > 2 days during the third trimester was associated with more than a fourfold increased risk for ASDs independent of indication although the limited sample size resulted in an imprecise and nonsignificant effect estimate (OR(adj) = 4.4; 95% confidence interval, 0.8-24.6).

I didn't know what terbutaline was (or for that matter what a ß2 adrenergic receptor agonists was) but a four fold increase of autism is nothing to sneeze at. So I exercised my google Phd and went and found out that, in general, ß2 adrenergic receptor agonists are a class of drugs that are used to treat asthma and other lung problems and that terbutaline is just the name of a specific drug of this type.

But it turns out that terbutaline is/was also used, off-label, to delay preterm labor. So here you have a drug that has been used to delay preterm labor that might greatly increase the risk of autism. That definitely isn't good.

On the flip side, this result is based on a small number of cases so can't just assume that the relationship is going to be the same in the general population. But then again, this isn't the first study to suggest that neonatal exposure to terbutaline might increase the risk of autism.

Other studies have found that fraternal twins who were exposed to terbutaline for longer than two weeks had an increased chance of both having autism², that rats who were exposed to a large dose of terbutaline showed signs of neuroinflammation³, and that certain forms of genes related to the beta2-adrenergic receptor might be more common in people with autism⁴.

So while there is some room for doubt, I think it is safe to say that the risk is real. Prolonged prenatal exposure to terbutaline probably does increase the risk of autism. The good news is (if any of this can be good) that the FDA issued a warning earlier this year about prolonged use of terbutaline for treating preterm labor -

The U.S. Food and Drug Administration is warning that terbutaline administered by injection or through an infusion pump should not be used in pregnant women for prevention or prolonged (beyond 48-72 hours) treatment of preterm labor due to the potential for serious maternal heart problems and death. In addition, oral terbutaline tablets should not be used for prevention or treatment of preterm labor. The FDA is requiring the addition of a Boxed Warning and Contraindication to the drug prescribing information (labeling) to warn against these uses.

Hopefully the medical community will get the message.

References

1. Croen LA, Connors SL, Matevia M, Qian Y, Newschaffer C, Zimmerman AW. Prenatal exposure to ß2-adrenergic receptor agonists and risk of autism spectrum disorders. J Neurodev Disord. 2011 Aug 27. [Epub ahead of print]
PubMed PMID: 21874331 DOI: 10.1007/s11689-011-9093-4 (Open Access)

2. Connors SL, Crowell DE, Eberhart CG, Copeland J, Newschaffer CJ, Spence SJ, Zimmerman AW. beta2-adrenergic receptor activation and genetic polymorphisms in autism: data from dizygotic twins. J Child Neurol. 2005 Nov;20(11):876-84.
PubMed PMID: 16417856

3. Zerrate MC, Pletnikov M, Connors SL, Vargas DL, Seidler FJ, Zimmerman AW, Slotkin TA, Pardo CA. Neuroinflammation and behavioral abnormalities after neonatal terbutaline treatment in rats: implications for autism. J Pharmacol Exp Ther. 2007 Jul;322(1):16-22. Epub 2007 Mar 30.
PubMed PMID: 17400887 DOI: jpet.107.121483 (Open Access)

4. Cheslack-Postava K, Fallin MD, Avramopoulos D, Connors SL, Zimmerman AW, Eberhart CG, Newschaffer CJ. beta2-Adrenergic receptor gene variants and risk for autism in the AGRE cohort. Mol Psychiatry. 2007 Mar;12(3):283-91. Epub 2007 Jan 2.
PubMed PMID: 17199132 DOI: sj.mp.4001940

Study : Are thyroid hormone concentrations at birth associated with subsequent autism diagnosis?

2011-09-02T13:10:00.000-04:00

Thyroid problems at birth might be associated with an increased risk of autism. Can anyone say endocrine disrupting chemicals?

For more details about what can disrupt the endocrine system and what the results might be, I would suggest reading this statement on endocrine disrupting chemicals from The Endrocine Society.

Are thyroid hormone concentrations at birth associated with subsequent autism diagnosis?
Autism Res. 2011 Aug 31.
Hoshiko S, Grether JK, Windham GC, Smith D, Fessel K.

Environmental Health Investigations Branch, California Department of Public Health, Richmond, California. sumi.hoshiko@cdph.ca.gov.

Thyroid hormones substantially influence central nervous system development during gestation. We hypothesized that perturbations of early thyroid profiles may contribute to the development of autism spectrum disorders (ASD). Thyroid pathways could provide a mechanism by which environmental factors that affect the thyroid system may impact autism occurrence or phenotypic expression. We investigated whether thyroxine (T4) levels at birth are associated with subsequent ASD, using two existing California study groups in multivariate analysis. One study group included children born in the San Francisco Bay Area in 1994, with cases identified through the California Department of Developmental Services (DDS) and/or the Kaiser Permanente Medical Care Program of Northern California (244 cases, 266 controls); the other included children born in California in 1995, with cases identified through DDS (310 cases, 518 controls). Matched controls were selected from birth certificate records. This exploratory analysis suggested that infants with very low T4 (<3rd percentile) may have higher ASD risk, although results reached statistical significance only for the 1995 study group (1995: OR = 2.74 (95% CI 1.30-5.75; 1994: OR = 1.71 (95% CI 0.57-5.19). A variety of alternate analyses were conducted with available data, without further resolution of the difference between the two study groups. The results of our study indicate that further studies are warranted to investigate whether thyroid hormone perturbations play a role in the development of ASD by evaluating additional potential confounders and genotype or phenotype in larger studies.

PMID: 21882364
DOI: 10.1002/aur.219.

Is Too Much Folic Acid a Bad Thing?

2011-08-27T14:13:00.000-04:00

I saw this study earlier today and it definitely gave me pause. Could it be that the increasing use of folic acid over the past few decades is responsible for part of the rise of conditions like autism?

Folic acid supplementation dysregulates gene expression in lymphoblastoid cells - Implications in nutrition.

Junaid MA, Kuizon S, Cardona J, Azher T, Murakami N, Pullarkat RK, Brown WT.

For over a decade, folic acid (FA) supplementation has been widely prescribed to pregnant women to prevent neural tube closure defects in newborns. Although neural tube closure occurs within the first trimester, high doses of FA are given throughout pregnancy, the physiological consequences of which are unknown. FA can cause epigenetic modification of the cytosine residues in the CpG dinucleotide, thereby affecting gene expression. Dysregulation of crucial gene expression during gestational development may have lifelong adverse effects or lead to neurodevelopmental defects, such as autism. We have investigated the effect of FA supplementation on gene expression in lymphoblastoid cells by whole-genome expression microarrays. The results showed that high FA caused dysregulation by four-fold up or down to more than 1000 genes, including many imprinted genes. The aberrant expression of three genes (FMR1, GPR37L1, TSSK3) was confirmed by Western blot analyses. The level of altered gene expression changed in an FA concentration-dependent manner. We found significant dysregulation in gene expression at concentrations as low as 15ng/ml, a level that is lower than what has been achieved in the blood through FA fortification guidelines. We found evidence of aberrant promoter methylation in the CpG island of the TSSK3 gene. Excessive FA supplementation may require careful monitoring in women who are planning for, or are in the early stages of pregnancy. Aberrant expression of genes during early brain development may have an impact on behavioural characteristics.

PMID: 21867686
DOI: 10.1016/j.bbrc.2011.08.027

The Curious Autism Science Foundation

2011-08-18T18:00:00.000-04:00

It has been two years since Alison Tepper Singer absconded with Autism Speak's seat on the IACC and co-founded the Autism Science Foundation. The ASF is, of course, a (cough) leading nonprofit dedicated to finding answers to the puzzle of autism.

Or at least they are dedicated to finding all of the answers possible when starting from the assumption that vaccines, anything related to vaccines, and GI issues have nothing to do with autism.

It has been a little bit of a rocky start for the ASF.

On day one, the ASF climbed into bed with prominent members of the neurodiversity and adult "don't speak ill of" autism community. I'm guessing they felt the need to do that because they annoyed one large part of the autism community by running away with Autism Speak's seat on the IACC and another large part with their absolute "asked and answered" stance on autism "science".

The ND and adult "self-advocate" groups might have been the only vocal group left who would give them the time of day. But I have to wonder what sort of pact with the devil was required to seal this deal because Ms Singer was definitely not well liked by these people. Prior to the formation of the foundation, these people were all but burning her in effigy over comments she made years earlier about autism making her want to drive off a bridge.

But whatever promises were made, the ASF gained the acceptance of a large part of the ND and self-advocate movements. Which is a rather peculiar pairing when you think about it. On the one side, you have a foundation dedicating to following science and on the other a group of people who don't seem to think that autism is a disorder or that it needs to be treated/cured. On the one side you have a foundation dedicated to finding the genetic "causes" of autism and on the other people who object to almost any genetic research into autism.

I think you get the point, the two groups certainly make strange bed fellows.

And so, with their bed made, the ASF turned to more mundane matters such as where to hang their hats. And speaking of location, the initial location was none other than the basement of Ms. Singer's home. Which, all things considered, isn't the worst place to start from. I just have to wonder how many of the other non-profit public members of the IACC worked out of someone's basement.

So, with their bed made and located in Ms. Singer's basement, the foundation turned to creating its website to share its mission and to provide accurate scientific information about autism to the world.

And promptly got it wrong.

On their website, they included information about PDD-NOS, aka Pervasive Developmental Delay - Not Otherwise Specified. They also wanted to remind us that "autism is pervasive developmental delay, which means children will continue to develop, learn, gain skills and adapt as they age".

Which while it might be true that some children with autism will continue to grow and learn on their own, you can't really say that for all children. And last time I checked, the "scientific" definition of autism is that it is a development disorder, not a "delay", and PDD-NOS stands for Pervasive Developmental Disorder - Not Otherwise Specified, again not a "delay".

I find it highly curious that an organization with the word "science" in their name and a gaggle of scientific advisers would get the name and basic concept of the disorder they are targeting wrong. Maybe it had something to do with getting into bed with the ND movement?

The foundation also has some questionable information about the gluten-free, casein-free diet on site, saying that "children on the GFCF diet have been found to have lower bone density than controls, which could lead to osteoporosis."

There has been no study (that I am aware of) that has provided strong evidence that children with autism on the GFCF diet are more likely that children with autism who aren't on the diet to have lower bone density. Or for that matter any study whatsoever that attempts to sort out whether the GFCF diet could cause lower bone density or whether lower bone density could be caused by another condition (such as malabsorption) that the GFCF diet is used to treat.

The best (and worst) you can say about the GFCF diet is that the available evidence is inconclusive. There is some evidence that suggests it can help some children with autism but there certainly isn't any evidence that suggests that it would help all children or that it could magically cure every person with autism.

But moving along, with the ASF firmly in bed with the advocates in Ms. Singer's basement and their version of science nestled in its crib, the foundation secured funding in the form of proceeds from Dr. Offit's autism book started operations.

Or something like that, my memory of the exact sequence and timing of events is a little bit blurry. It is about this time that I finally found something better to do with my time and stopped paying attention to what the ASF was doing.

Fast forward to the present day and most of the original rough start has been erased.

Autism Speaks managed to get another seat on the IACC so that one of the largest private sources of funding for autism research could once again participate in the discussion of the future of autism research.

The ASF appears to have moved out of the basement and into New York City.

Unfortunately, the ASF is still calling autism a developmental delay instead of a disorder and they haven't updated their web site to reflect the data from the most recent twin studies or sibling study. And the GFCF diet still can lead to osteoporosis.

At least they got the science part, oh wait. Two out of three isn't bad, right?

Moving right along...

As I think back over the past two years, I can't really put my finger on anything major the ASF has done. Perhaps it was because I wasn't paying attention but you would think that anything of any major importance would have appeared in the headlines.

I do seem to remember something about them occasionally passing out sandwiches to scientists, possibly to help them think better (it is hard to think on an empty stomach). I also seem to remember something about them paying for ND bloggers, such as Sullivan and DoC, to attend autism conferences and write about it on their blogs.

Oh, and I think they did fund some research too.

A few months ago, I noticed that the ASF announced the imminent arrival of the first annual report. Since I hadn't really been following the what the foundation was up to, I thought it would be interesting to see what exactly the ASF had done in the first two years.

For their part, the ASF appeared to be very excited to release their first annual report, calling it "doing BIG things" and going so far as to create a special web site to release the report. This special site provided little snippets of information from the report and promised that the full report will would available in June.

But then June came and went and the report was not published. And then July passed and still no report. Here it is, the middle of August and the special site is still claiming that the report is going to be published in June. Maybe they mean June 2012?

I know the ASF wants to be taken seriously but I have to wonder. I can't imagine Autism Speaks or any other large autism non-profit making a big to-do about releasing its annual report and then simply failing to do so. The ASF says that it survives on donations but who would be willing to donate to an organization that won't even tell you how it uses the money you give it?

Very curious.

Study: Recurrence Risk for Autism Spectrum Disorders: A Baby Siblings Research Consortium Study

2011-08-15T08:43:00.000-04:00

The risk of a sibling developing autism is almost double what it was thought to be?

Hmm.

Recurrence Risk for Autism Spectrum Disorders: A Baby Siblings Research Consortium Study

Objective: The recurrence risk of autism spectrum disorders (ASD) is estimated to be between 3% and 10%, but previous research was limited by small sample sizes and biases related to ascertainment, reporting, and stoppage factors. This study used prospective methods to obtain an updated estimate of sibling recurrence risk for ASD.

Methods: A prospective longitudinal study of infants at risk for ASD was conducted by a multisite international network, the Baby Siblings Research Consortium. Infants (n = 664) with an older biological sibling with ASD were followed from early in life to 36 months, when they were classified as having or not having ASD. An ASD classification required surpassing the cutoff of the Autism Diagnostic Observation Schedule and receiving a clinical diagnosis from an expert clinician.

Results: A total of 18.7% of the infants developed ASD. Infant gender and the presence of >1 older affected sibling were significant predictors of ASD outcome, and there was an almost threefold increase in risk for male subjects and an additional twofold increase in risk if there was >1 older affected sibling. The age of the infant at study enrollment, the gender and functioning level of the infant's older sibling, and other demographic factors did not predict ASD outcome.

Conclusions: The sibling recurrence rate of ASD is higher than suggested by previous estimates. The size of the current sample and prospective nature of data collection minimized many limitations of previous studies of sibling recurrence. Clinical implications, including genetic counseling, are discussed.

Link

Ghosts of Autism Studies Past

2011-08-14T11:35:00.000-04:00

I have been reading older autism twin studies in an effort to put the latest autism twin studies and the idea that autism is a genetic disorder into a historical context. And the more I read of these old studies, the more the following line keeps coming to mind -

Those who cannot remember the past are condemned to repeat it.

We all hang on the latest word in autism research but I have to wonder how much of what we read is really new. As I am reading these old studies, I keep bumping into ideas that are being presented now as new and wonderful "discoveries". So I find myself wondering just how much is new and how much is simply a regurgitation of an older ideas that simply fell out of scientific fashion.

Lets take a look at some of the new, radical ideas about autism in terms of historical studies.

To start off with, what about the recent idea that a maternal infection during pregnancy might increase the risk of autism? If you read Steffenburgh et al 1989, you would see infections during pregnancy being mentioned as a possible cause of autism -

In not a single one of the pairs discordant for AD was there a reversed relationship in this respect. There were no cases of diagnosed rubella infection in pregnancy or of other infections currently thought to be of causative importance in autism.

How about the idea that autism might be a combination of genetic and environment influences? Folsten & Rutter in 1977 -

In studying genetic factors, it is necessary to bear in mind that autism is probably a behavioural syndrome with multiple aetiologies (Rutter, 1974). Certainly, it is known that the syndrome can develop in association with medical conditions as pathologically diverse as congenital rubella (Chess et al, 1971) and infantile spasms (Taft and Cohen, 1971). Accordingly, the investigation of possible hereditary factors must take account of aetiological heterogeneity.

What about the idea that prenatal/perinatal complications might play a role in autism? Steffenburgh et al in 1989 had this to say -

Nevertheless, the association with perinatal problems in discordant autism twin pairs shows that sometimes perinatal problems alone can be a major aetiological contributory factor.

How about the idea that identical twins might not both have autism and if they do both have autism the severity might be different? In the granddaddy of all autism twin studies in 1977, Folsten & Rutter found that only 4 out of the 11 pairs of identical twins were concordant for autism and that even if they were concordant they had significant differences -

Two of the concordant MZ pairs (i and 3*) were closely similar in all respects. In each case, the twins were severely retarded and the autism was somewhat atypical in terms of the limited evidence of ritualistic features. However, in both the other two pairs, there were important differences between the twins in spite of concordance for autism. In one (2) there was an 18 point difference in non-verbal I.Q_. and a 24 point difference in Peabody language quotient. The twin with a lower non-verbal I.Q,. but higher verbal I.Q,. made much more progress in both social relationships and use of language. In the fourth pair (4) there was a 39 point I.Q,. difference; in this case, the more intelligent twin was less severely autistic, although the type of behaviour was closely similar in both. It is also notable that the more intelligent twin did not develop autism until 3 years of age, although apart from the late onset the clinical picture was typical of autism.

But you might reply that that was under an old, strange definition of autism that would be quite different than one in use today. Nope, here is the definition of autism from that study -

a serious impairment in the development of social relationships of the type characteristic of autism (that is with limited eye to eye gaze, poor social responsiveness, impaired selective bonding, a relative failure to go to parents for comfort, and, when older, a lack of empathy, a lack of personal friendships and little group interaction); together with delayed and deviant language development with some of the specific features associated with autism (namely poor language comprehension, little use of gesture, echolalia, pronominal reversal, limited social usage of language, repetitive utterances, flat or staccato speech and very restricted imaginative play); and also stereotyped, repetitive or ritualistic play and interests (as indicated by an abnormal attachment to objects, marked resistance to change, rituals, repetitive behaviour, unusual preoccupations and restricted interest patterns).

That looks almost like a modern definition of autistic disorder to me. And as recent results have shown, autistic disorder (i.e. classic autism) makes up somewhere between 30% to 50% of all modern cases.

But it seems like coming into the "modern" era of autism research that we have forgotten some of these ideas. By the time Bailey et al in 1995 was published, much of these ideas were put put out to pasture and autism was declared a genetic disorder. It is only now, in modern times, that we have rediscovered some of the ideas about autism that were common over 35 years ago.

In closing, let me leave you with two little fun facts about these old twin studies.

The following twin studies make up the bulk of historical twin studies that looked at actual co-morbidity in twins - Folsten & Rutter 1977, Steffenburgh et al 1989, and Bailey et al 1995 - and all three of these studies have one very important thing in common.

All three of these studies excluded opposite sex twins, otherwise know as half of the fraternal twin population.

Second, even though the numbers of children with a label has increased by a factor of 25 (2400%) over the years, one thing has not changed - the 4 to 1 ratio of boys to girls. That ratio is noted all the way back in Folsten & Rutter in 1977 and the reference in there is to an older study from 1966.

So ask yourself just one question, if the definition of autism has changed so radically over the years and we are now calling things "autism" that would never have been called autism in the past, why hasn't this ratio of boys to girls changed?

References

Folstein, S, and M Rutter. 1977. “Infantile autism: a genetic study of 21 twin pairs.” Journal of child psychology and psychiatry, and allied disciplines 18(4):297-321. http://www.ncbi.nlm.nih.gov/pubmed/562353.

Ritvo, E R, B J Freeman, A Mason-Brothers, A Mo, and A M Ritvo. 1985. “Concordance for the syndrome of autism in 40 pairs of afflicted twins.” The American journal of psychiatry 142(1):74-7. http://www.ncbi.nlm.nih.gov/pubmed/4038442.

Steffenburg, S et al. 1989. “A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden.” Journal of child psychology and psychiatry, and allied disciplines 30(3):405-16. http://www.ncbi.nlm.nih.gov/pubmed/2745591.

Bailey, A et al. 1995. “Autism as a strongly genetic disorder: evidence from a British twin study.” Psychological medicine 25(1):63-77. http://www.ncbi.nlm.nih.gov/pubmed/7792363.

Safety in Developmental Disabilities

2011-08-13T11:05:00.000-04:00

As I have talked about just a few times before, safety is real concern for parents whose children have autism. Many of these children lack a basic awareness of their environment and will unknowingly put themselves in situations where there is a very real chance of harm or death.

So parents like me worry and take extra precautions to keep their children safe. We talk about these concerns openly so that other parents - perhaps parents new to autism - will know enough to take appropriate precautions and keep their children safe. The penalty for a lack of awareness in this area can be very severe.

But since this is autism we are talking about, there are always the "don't speak ill of autism" crowd how want to deny that these concerns are valid. One of their complaints against this idea is that there is no "evidence" that safety is a systemic issue in autism.

Well, here is a recent study that takes a look at a relatively simple task that involves safety - crossing the street. The developmental disability here is one of the forms of ADHD, but I have no doubt that the findings would apply to autism. There are many children with autism who would also lack the ability "to process perceived information adequately to permit crossing safely."

Mediating factors associated with pedestrian injury in children with attention-deficit/hyperactivity disorder.

OBJECTIVE:
Unintentional injury is the leading cause of pediatric mortality. One leading cause of unintentional injury is pedestrian injury. Children with developmental disabilities, particularly those with attention-deficit/hyperactivity disorder-combined type (ADHD-C) seem to have increased pedestrian injury risk. This study examined (1) the differences in pedestrian behavior between children with ADHD-C and normally developing comparison children and (2) the mediating factors that might link ADHD-C with pedestrian injury risk.

PATIENTS AND METHODS:
A total of 78 children aged 7 to 10 years (39 children with ADHD-C diagnoses and 39 age- and gender-matched typically developing children) participated. The main outcome measure was pedestrian behavior, as measured in a semi-immersive, interactive, virtual pedestrian environment. Key pedestrian variables related to different aspects of the crossing process were identified: (1) before the cross (ie, evaluating aspects of the crossing environment); (2) making the cross (ie, deciding to cross and initiating movement); and (3) safety of the cross (ie, safety within the pedestrian environment after the decision to cross was made).

RESULTS:
Children with ADHD-C chose riskier pedestrian environments to cross within (F(1,72) = 4.83; P <; .05). No significant differences emerged in other aspects of the crossing process. Executive function played a mediating role in the relationship between ADHD-C and the safety of the cross.

CONCLUSIONS:
Children with ADHD-C seem to display appropriate curbside pedestrian behavior but fail to process perceived information adequately to permit crossing safely.

References

Stavrinos D, Biasini FJ, Fine PR, Hodgens JB, Khatri S, Mrug S, Schwebel DC. Mediating factors associated with pedestrian injury in children with attention-deficit/hyperactivity disorder. Pediatrics. 2011 Aug;128(2):296-302. Epub 2011 Jul 25.
PMID: 21788213
DOI: 10.1542/peds.2010-3829

Quality Research

2011-08-11T15:00:00.001-04:00

Every now and then I read the abstract for a study and just have to laugh at the absurdity. The following is one of those -

Characteristics and Quality of Autism Websites.
J Autism Dev Disord. 2011 Aug 6. [Epub ahead of print]

Reichow B, Halpern JI, Steinhoff TB, Letsinger N, Naples A, Volkmar FR.
Yale Child Study Center, 230 South Frontage Road, New Haven, CT, 06519, USA.

Abstract
The World Wide Web is a common method for obtaining information on autism spectrum disorders, however, there are no guidelines for finding websites with high quality. We conducted two studies examining the characteristics and/or quality of autism websites in 2009 and 2010. We found websites with a .gov top-level domain had a statistically significant association with high quality websites and websites offering a product or service and websites promoting a non-evidence-based practice had a statistically significant association with poor quality websites. Based on our work we concluded that online information should not replace the information consumers obtain from professionals. Further implications for practice, overview of study limitations and future directions are provided.

PMID: 21822761

I don't think I have ever seen anyone try to say that a top-level domain name is statistically significant of anything before let alone say that it determines whether the site is "high quality" or not.

Seriously, how exactly do you define "high quality" so that it isn't just an arbitrary standard that you made up and how on earth do you get away with claiming that this arbitrary definition can have a statistically significant association with anything. What does that even mean?

You might as well just spell it out and say that you liked what these sites said better than others and don't pretend that there is some sort of science behind it.

And don't even get me started in the idea that "consumers" should give more credence to information dispensed from professionals. There are many "professionals" out there that don't know the first thing about autism let alone have any clue about how to deal with it.

I would even go so far as to say that the majority of medical professionals that deal with young children don't have a clue when it comes to autism. If I had a dollar for every time I have heard of a pediatrician using a line like "he's just being a boy" or "they will grow out of it", well, I would be several hundred dollars richer at the very least.

OK, I guess I did get started. But really, we have been extremely fortunate in having an excellent team of knowledgeable professionals working with our children, but we still have to do our own research to separate out fact from fiction. We have had "professionals" tell us all sorts of garbage and completely miss things that we managed to catch because we know enough to do our own research.

I know that there is a serious and important point here. It is important to make sure that what you are looking at is a knowledgeable and reputable source. But according to this paper we should assume that the information provided by professionals, many of whom are completely clueless, is the more reliable source and disregard the vast amount of reliable and accurate information that the internet can provide?

Yeah, right.

Ancestry of Pink Disease and Autism

2011-08-10T13:00:00.000-04:00

A study was published a few weeks ago that took a look at whether having a family history of pink disease (Infantile Acrondynia) leads to an increased risk of autism. Pink disease is, as most of you probably know, a form of mercury poising linked to use of teething powders that used to be commonly seen in infants and toddlers. And so, as would be expected when someone mentions the words "autism" and "mercury" together in the same sentence, this study has produced some rather strong opinions from all corners of the autism world.

I didn't want to write anything about this one until I had the chance to read what the study did and did not say (unlike some other people). But after reading it, I don't really understand what the big deal is. The data contained in the paper is interesting, if very limited, but outside of the typical theories that fill the introduction and conclusion sections of almost every paper, there is no direct link made between mercury and autism.

Or to put it another way, even if every bit of actual data in the study is 100% true and having a parent or grandparent who survived pink disease does increase the risk of having autism, it does not speak to why the relationship is there. So this is just a simple association study saying that A might be associated with B, and a very tenuous one at that.

The core of the data is quite simple. The researchers sent out surveys via mail and e-mail to approximately 2,300 survivors of pink disease. The surveys indicated that they were collecting data on the general health outcomes in the descendants of survivors of pink disease instead of identifying the interest in autism specifically.

The surveys asked questions about the number of biological children and grandchildren that each survivor had that lived until at least their fifth birthday. It asked how many of the children and grandchildren had one or more of the following conditions : autism, Asperger's, ADHD, epilepsy, fragile X, intellectual disability, or Down syndrome.

Out of all of the surveys sent out, only 522 completed, non-duplicate surveys were received back. If you are looking for problems with the study, this is one of the first ones. Only a small fraction of the surveys were returned leading to the very real possibility that people who chose to respond were biased in some way.

The breakdown of the responses is as follows. I am only going to report the autism and ADHD numbers as those are the interesting ones.

There were a total of 1,103 children who had a mean age of 37.1 years old. In this group, there were 11 children with any form of autism (3 autism, 8 Asperger) and 38 children with ADHD.

There were a total of 1,366 grandchildren who had a mean age of 11.3 years old. In this group, there were 34 grandchildren with autism (12 autism, 22 Asperger) and 29 grandchildren with ADHD.

The researchers then compared the rates of autism in the grandchildren against other published estimates of autism prevalence from Australia. There are some other sites out there (some of which didn't read the paper) that are claiming that this is one of the problems with this paper. The claim is that there is no accepted autism prevalence number so there is nothing to compare against.

These claims are largely baseless as the prevalence estimates used in the paper are from other published research that specifically looked at autism prevalence in Australia in and around the age of the grandchildren. Furthermore, the estimates used are in line with other published estimates in other countries during the same time period.

Personally, I don't find these comparisons to other prevalence estimates all that useful or meaningful. I think the raw numbers speaks for themselves even in terms of the most recent autism prevalence estimates.

The bottom line is that there were far more cases of autism in grandchildren than would be expected in a group of this size. The total rate in this population would be almost 2.5%, or more than double what would be expected even in the youngest children today. When the grandchildren are grouped according to age, the autism prevalence are -

1 in 25 for 6-12 year olds (398 kids)
1 in 35 for 13-16 year olds (141 kids)
1 in 60 for 16+ year olds (827 kids)

That last point is my own extrapolation from the data included in the study. As a point of comparison, the accepted expected rate of autism today is about 1 in 110, or at least it is in the US.

The study doesn't go into details about the children, but simple math would show you that about 1 in 100 of the direct children had a form of autism. That number is far larger than would be expected considering that the majority of these people were born before 1980. Back then the expected rate would have been something like 4 in 10,000 - not 100 in 10,000.

But as shocking as these numbers are, you can't read too much into them because they are based on a survey. No one went out and actually verified that the people had the condition that they said they did. No one checked for any sort of response bias in the data. No one even checked that the people who responded did actually survive pink disease.

So the results are interesting but hardly earth-shattering.

There are also two interesting artifacts in the data that give me pause.

First, the proportion of people with autism compared to Asperger's is out of balance. Normally you find one person with Asperger's for each 9 with classic autism or pdd-nos. Yet in both the children and grandchildren Asperger's made up almost two thirds of the autism group.

Perhaps the survivors whose children had autism were less likely to have grandchildren or were less likely to be included in the sample. This could especially be true since the response to autism back them was to stick people in an institution for the rest of their lives.

Second, there is something interesting going on with the total number of autism and ADHD cases. In the children, the percent with either form of autism or ADHD was about 4.5%. In the grandchildren, this percent was about almost identical at 4.6%. The two populations aren't the same size but it looks like about half of the increase in the autism group could have come from the decrease in the ADHD group.

But again, this is just survey data, so we can't read too much into these quirks just like we can't read too much into the autism rates.

I am not going to go into the mercury/autism theories as there isn't too much point.

Any possible relationship between pink disease and autism is purely hypothetical at this point. If you wanted to prove some sort of relationship you would have to do a much better job with data collection and analysis.

And on the flip side, we know almost nothing about the relationship between the type of mercury associated with pink disease and autism. It is a different type of mercury delivered in different doses in a different way. You can't look at the existing data on intramuscular ethyl mercury exposure and draw conclusions about ingested mercury chloride.

References

Shandley, Kerrie, and David W Austin. 2011. “Ancestry of pink disease (infantile acrodynia) identified as a risk factor for autism spectrum disorders.” Journal of toxicology and environmental health. Part A 74(18):1185-94.
PMID : 21797771

Revisiting the Flawed 1% Estimate of Adult Autism in the UK

2011-08-09T07:53:00.001-04:00

If you remember, a survey results that was first published in 2009 and again in 2010 found that an estimated 1% of the adult population in the UK had some form of autism. This result was a big deal at the time because it was one of the first results that demonstrated that autism is as common in adults as it is in children.

Unfortunately, it is now very likely that this result is also wrong. A new study was quietly published this month that seems to blow the earlier result out of the water. The problem is something of a technical one but, to put it simply, it turns out that the screening test used in the survey, a modified version of the autism quotient called the AQ-20, is a very poor test for autism.

The basic idea of surveys like this is to give a quick and easy screening test to a large population to identify the people most likely to have a condition. You then pick a sample out of the screened population and give them a more comprehensive evaluation to determine how many of them actually have the condition. You can then use that number to estimate how many people would have been found to have the condition if you had evaluated them all.

The survey in the UK did just this - it used the AQ-20 to screen the population and then picked a subset of the population and gave them the ADOS. It found that out of the an approximate 618 people evaluated using the ADOS that 19 of them had a form of autism. That 19 was then extrapolated back into the entire population using the AQ-20 score to arrive at the the estimate that there would have 72 total cases of autism found, or about 1% of the population.

This final step is the problem as it turns out that the AQ-20 has two glaring flaws -

First, it is a very poor screen for autism, at least in this population. The sensitivity was found to be 0.73 and the specificity was 0.62. That means that it would miss almost 1 in 3 people who had autism while saying that almost 40% of the people who didn't have autism did.

Second, and much more importantly, the actual AQ scores are not a good predictor of whether a person had autism or not. In the words of the authors in the latest validation study -

The AQ-20 self-report screening questionnaire score was found to have a low correlation (0.24 ; p<;0.0001) with the continuous ADOS-4 total score and unsatisfactory sensitivity and specificity with the ADOS 10+ threshold. It was not possible to predict confidently which of the phase 1 respondents with AQ-20 scores of >= 5 had ASD unless they had been assessed on the ADOS-4 in phase 2.

Pay very close attention to that last sentence - having an AQ-20 score of greater than five could not be used to accurately predict which of the people had autism. Yet that is exactly what the original survey did to arrive at the 1% estimate.

I think it is safe to say that it is likely that the one percent estimate is wrong.

Neurodiversity Loses a Follower

2011-08-04T18:40:00.000-04:00

It is always a good day when the neurodiversity movement loses a follower -

By choosing to have the neurodiversity symposium encompass and showcase facilitated communication, the key promoters of the construct are signalling their support for a debunked communication form and actively supporting its continued use. And they are obviously, openly anti-cure. Based on the language here, one could argue that if an autistic individual happens to communicate by smearing feces, that this should be celebrated. I hope that's not what they mean.

Perhaps there's a failure to think through here on their part, but regardless, it seems to be an extreme position that I can not, after having worked for two decades with my son to help him overcome obstacles, to learn to communicate, to function in the wider world, support. I have not sought to make him neurotypical, but I have worked to help him function better, to master new skills, to become more autonomous (the same as I've done for my daughters). Imagine if I'd chosen to celebrate his (and their) autistic forms of communication and self-expression involving feces instead.

Since I have been somewhat critical of Kim Wombles in the past, I though I should take this opportunity to point out when she gets something right. As I have been saying for years now, the neurodiversity movement is not a good thing for the majority of people with autism because it ignores the needs of those who are disabled by their autism and creates unrealistic ideas of what it means to have autism.

Don't get me wrong, the basic idea of neurodiversity isn't a bad one. Every person - disabled or otherwise - is entitled to be treated with respect and dignity, and you should respect a person's right to be different. But like other grand philosophical systems (i.e. socialism), there is a disconnect between the lofty ideal and what it looks like in practice.

In practice, neurodiversity starts out with a respect for the individual and acceptance of their differences, but quickly degrades into an anti-cure, anti-treatment movement that attacks people who are trying to help their loved ones.

Acceptance is a wonderful thing, but no amount of acceptance is going to give my children the ability to function on their own. Acceptance can't teach them how to talk or socialize. Nor will any amount of acceptance give them the ability to take care of themselves or live independently when they are older.

In practice, neurodiversity is a movement that ignores the fact that most people with autism are actually disabled by their autism. It is a movement that ignores the major challenges that autism creates and instead focuses almost exclusively on the "autistic quirks" of extremely high functioning.

There is a fundamental difference between the "quirks" of someone who doesn't like velvet but can function well enough to serve on the IACC and a child that can't talk, can't socialize, and is almost incapacitated by their rigidities. The neurodiversity made up of the former but pretends to speak for the needs of the latter while at the same time ignoring their very real needs.

So, I am happy to see that the neurodiversity movement has lost a follower. Good job Kim.

Study : Lack of association between autism and four heavy metal regulatory genes

2011-08-01T13:11:00.000-04:00

This study revisits the older idea that children with autism have an altered mercury (Hg) metabolism that makes them susceptible to even "safe" levels of Hg. It did this by looking for an association between autism and mutations in four genes involved in Hg metabolism.

Not surprisingly, the study found no association. I wouldn't make too much out of this result though, as interesting as it is.

For one thing, other larger genetic studies have taught us that most mutations and copy number variations that have a relation to autism only appear in a very small number of cases, typically less than one percent. If that were the case here then the current study might not have included enough participants to find the association.

Another potential problem is that there is a difference between a genetic susceptibility and what the actual biological pathway is doing. If you wanted to test the altered metabolism theory then the best way of doing so would be to devise some direct test of the metabolism. Although I suspect that might be easier said than done.

In general, I think these sorts of genetic association studies are going to be useless until we come up with a way to separate out the different forms of autism. Right now we are taking everyone with a label of "autism" and looking at them as a group and finding nothing.

That would be like taking anyone with any form of cancer and looking at them as a single group. You wouldn't get any useful relationships that way either. It is only when you separate out the different types and look at then individually that you get very useful results.

Lack of association between autism and four heavy metal regulatory genes.
Neurotoxicology. 2011 Jul 20.
Owens SE, Summar ML, Ryckman KK, Haines JL, Reiss S, Summar SR, Aschner M.
Department of Pediatric Toxicology, Vanderbilt University School of Medicine, Nashville, TN, USA.

Autism is a common neurodevelopmental disorder with genetic and environmental components. Though unproven, genetic susceptibility to high mercury (Hg) body burden has been suggested as an autism risk factor in a subset of children. We hypothesized that exposure to "safe" Hg levels could be implicated in the etiology of autism if genetic susceptibility altered Hg's metabolism or intracellular compartmentalization. Genetic sequences of four genes implicated in the transport and response to Hg were screened for variation and association with autism. LAT1 and DMT1 function in Hg transport, and Hg exposure induces MTF1 and MT1a. We identified and characterized 74 variants in MT1a, DMT1, LAT1 and MTF1. Polymorphisms identified through screening 48 unrelated individuals from the general and autistic populations were evaluated for differences in allele frequencies using Fisher's exact test. Three variants with suggestive p-values <0.1 and four variants with significant p-values <0.05 were followed-up with TaqMan genotyping in a larger cohort of 204 patients and 323 control samples. The pedigree disequilibrium test was used to examine linkage and association. Analysis failed to show association with autism for any variant evaluated in both the initial screening set and the expanded cohort, suggesting that variations in the ability of the four genes studied to process and transport Hg may not play a significant role in the etiology of autism.

PMID: 21798283

Study : Onset patterns in autism: correspondence between home video and parent report.

2011-07-30T20:00:00.000-04:00

Another day, another interesting study. This time researchers looked at home video recording of children with autism and attempted to determine what the onset of autism looked like. They found that there appeared to be three separate tracks of development - from birth, regression, and plateau.

This result is similar to another study from last year. But in that study, children who went on to develop autism were found to be virtually indistinguishable from the peers until sometime between the 6 to 18 month mark and suggested that most cases of autism were a combination of plateau and regressive.

I haven't read the current study text (yet) but I think one of the differences between these two studies is that the current one seems to be looking backward using existing video snippets while the earlier one actually evaluated the children numerous times as they aged.

It is easy to look at a video clip knowing that a child has autism and see "signs" of what could be autism when it could equally be an off day or non-typical behavior. I am not saying that the current study did that but it is always a hazard of relying on video. Although the current study does have an awful lot of clips so maybe the clips were done on a regularly planned interval.

The study does have a good point about parents being able to properly recall their children's development. It is hard to remember what exactly a child was or was not doing at a specific point in time years later. Although then again, equating parental answers on the ADI-R to actual parental recall of development might not be completely valid.

Onset patterns in autism: correspondence between home video and parent report.

J Am Acad Child Adolesc Psychiatry. 2011 Aug;50(8):796-806.e1. Epub 2011 Jun 2.
Ozonoff S, Iosif AM, Young GS, Hepburn S, Thompson M, Colombi C, Cook IC, Werner E, Goldring S, Baguio F, Rogers SJ.
University of California-Davis.

OBJECTIVE:
The onset of autism is usually conceptualized as occurring in one of two patterns, early onset or regressive. This study examined the number and shape of trajectories of symptom onset evident in coded home movies of children with autism and examined their correspondence with parent report of onset.

METHOD:
Four social-communicative behaviors were coded from the home video of children with autism (n = 52) or typical development (n = 23). All home videos from 6 through 24 months of age were coded (3199 segments). Latent class modeling was used to characterize trajectories and determine the optimal number needed to describe the coded home video. These trajectories were then compared with parent reports of onset patterns, as defined by the Autism Diagnostic Interview-Revised.

RESULTS:
A three-trajectory model best fit the data from the participants with autism. One trajectory displayed low levels of social-communication across time. A second trajectory displayed high levels of social-communication early in life, followed by a significant decrease over time. A third trajectory displayed initial levels of behavior that were similar to the typically developing group but little progress in social-communication with age. There was poor correspondence between home video-based trajectories and parent report of onset.

CONCLUSIONS:
More than two onset categories may be needed to describe the ways in which symptoms emerge in children with autism. There is low agreement between parent report and home video, suggesting that methods for improving parent report of early development must be developed.

PMID: 21784299

Study: Fatigue, Wellbeing and Parental Self-Efficacy in Mothers of Children With an Autism Spectrum Disorder.

2011-07-29T20:00:00.000-04:00

This just in - being the parent of a child on the spectrum can wear you out. And here I thought I was tired all of the time just because I was getting old...

But in all seriousness, it is a good thing that some people are taking the stress involved with raising a child on the spectrum seriously. There are many families out there that are being literally crushed under the weight of trying to deal with autism and could really use some extra help.

Fatigue, Wellbeing and Parental Self-Efficacy in Mothers of Children With an Autism Spectrum Disorder.
Autism. 2011 Jul 25. [Epub ahead of print]
Giallo R, Wood CE, Jellett R, Porter R.
Parenting Research Centre, Australia.

Abstract
Raising a child with an Autism Spectrum Disorder (ASD) presents significant challenges for parents that potentially have a impact on their health and wellbeing. The current study examined the extent to which parents experience fatigue and its relationship to other aspects of wellbeing and parenting. Fifty mothers of children with an ASD aged 2-5 years participated in the study. Compared with mothers of typically developing children, mothers of children with an ASD reported significantly higher fatigue, with overall scores in the moderate range. Factors associated with high levels of fatigue were poor maternal sleep quality, a high need for social support and poor quality of physical activity. Fatigue was also significantly related to other aspects of wellbeing, including stress, anxiety and depression, and lower parenting efficacy and satisfaction. The need for interventions to specifically target parental fatigue and its impact on families affected by ASDs both in the short and long term is clearly indicated.

PMID: 21788255

New Wandering Code Approved

2011-07-28T20:00:00.006-04:00

The new "controversial" medical code for wandering has been approved by the ICD-9-CM Coordination and Maintenance Committe. I say controversial, but it isn't a controversy for anybody except the self-appointed guardians of autism's virtue, ASAN.

It is nice to know that ASAN and their ilk don't have much pull when it comes to dealing with issues like this. These self-advocate groups want to make autism into some sort of civil rights movement, saying things like this new wandering code will "enable abuse and restrict the civil rights" of people with disabilites, while the rest of world seems to understand that wandering is a serious safety issue.

Many children with autism have died because they wandered away from home and yet ASAN is worried about some hypothetical restriction of civil rights. As a parent, I would much rather my children have their "civil rights" violated and live to tell the tale rather than preserving those hypothetical rights and ending up dead.

I have to wonder (yet again) just who ASAN thinks they are advocating for. It certainly isn't the needs to the majority of people (or children) who have autism.

It has been estimated that almost half of all children with autism between the ages of 4 and 10 wander. And even more frightening, one out of three of the children don't have the communication skills to even tell anyone their name or where they live. Does ASAN think their stance against a medical code for wandering is in the best interest of these children?

If you want more information on wandering and autism, please visit AWAARE.

Below is the CDC's press release on the new code.

ICD-9-CM Code for Wandering

The ICD-9-CM code for wandering , effective October 1, 2011, is designed to promote better data collection for and understanding of wandering and to prompt important discussions about safety among healthcare providers, caregivers, and the person with a disability to the fullest extent possible.

Wandering places children and adults with autism spectrum disorders (ASDs) or other disorders in harmful and potentially life-threatening situations—making this an important safety issue for individuals affected and their families and caregivers. Children and adults with ASDs and other developmental disabilities are at higher risk of wandering off than are children and adults without these disorders or other cognitive disorders.

At the request of the Interagency Autism Coordinating Committee, a Safety Subcommittee was convened to address wandering and other safety issues for children and adults with ASDs. CDC, as a member of the Subcommittee, submitted a proposal for the wandering code to the ICD-9-CM Coordination and Maintenance Committee for consideration at the March 2011 meeting, which represented the final opportunity for additions/revisions to the ICD-9-CM until 2014. As part of the Coordination and Maintenance Committee’s usual procedures, proposals were open for public comment for 4 weeks, and revisions to the ICD-9-CM were announced online on June 10, taking effect October 1.

This code is intended to capture information about individuals, with any condition classified in the ICD, who wander. Wandering was deleted as a subcode under the Alzheimer’s and dementia code and added as a condition to be noted in association with disorders classified elsewhere [V40.31]. The intention is to provide a way to document, understand, and improve the situation for individuals who are at risk of injury or death due to dangerous wandering. Wandering should be coded if documented in the medical record by the provider (i.e., physician).

The wandering code is not linked to a specific diagnosis, nor is it part of the diagnostic codes used for autism or intellectual disabilities. The ICD-9-CM classifies behaviors and risk factors in addition to diseases and syndromes; as such, the wandering code is used in conjunction with other diagnostic and symptom or procedure codes.

Brian Deer "Immensely Proud" of Using Deception to Collect Data Included in the BMJ Article

2011-07-27T22:36:00.001-04:00

In my last post I talked about the possiblity that Brian Deer might have used deception to collect statements used in his BMJ article. Well, that is no longer a possiblity but now an almost certainty. Mr Deer did in fact use a fake identity in requesting and conducting an interview and quotes from this interview were later included in the BMJ's article.

Here is Brian Deer explaining the situation in his own words (out of respect for the privacy of the mother, I have removed her actual name and replaced it with Smith) -

Exactly right. In fact, not only do I have no shred of doubt about interviewing Rosemary Smith while using a pseudonymn, I’m immensely proud of the encounter (reported seven years ago in The Washington Post) which, with a similar (telephone) interview with Jackie Fletcher of the Jabs group, gave probable cause for the inquiries which I believe eventually brought about the collapse of the vaccine-autism fraud in both the UK and the USA.

Thanks Ms Smith.

I discussed the intended use of a pseudonym in advance with editorial and legal staff, and the subterfuge was wholly justified by the public interest in the safety of children by means of vaccination, which Ms Smith sought to challenge. The challenge was to get a detailed account of her story, unaffected by any assumptions she might have about the person she was speaking to. Indeed, clown that he is, Mr Olmsted evidences in his poisonous tirade against me the need for a pseudonym when he observes that Ms Smith would never have talked to me if she had looked at my website. Ethics case closed.

The untold circumstances of the interview, in late 2003, were that Ms Smith and I talked (as Mr Olmsted notes) for some six hours. Your readers might wish to consider whether any encounter, in the interviewee’s own home, could have effectively gone on all day were it not to the best standards of courtesy and interest. I was not exactly shouting allegations through her letter box. If I find the time, I may post audio from that interview on my website.

In her letter, Ms Smith also wishes the world to believe that I would use only one audio cassette, which I’m supposed to have kept turning over (hence erasing the previous portions of the interview!). Think about it. Her claim might once have been wishful thinking. Seven years later, and with a crucial passage published in the BMJ, it just looks pitiful.

The truth of what happened was that we had a long, amicable and wide-ranging discussion (featuring frequent cups of tea and a sandwich), near the end of which I asked her what it was that she thought was the trump card for the claimants in what was then still a possible UK lawsuit over MMR. She told me it was the O’Leary measles tests.

At that point, I made what I now realize to have been a mistake. I gave her my honest and well-intentioned impression, which I’d gained even within a few days of starting my inquiries, that O’Leary’s work was probably a bust (as it turned out to be). I also said to her that I thought she needed to be wary of lawyers, experts, journalists (yes indeed), politicians and others who I thought had piled into the story, would drain was was useful for them, and then move on, leaving parents looking back wondering what on earth had happened (as it turned out to be). I’ve seen this in a number of pharmaceutical product liability disputes, and in Britain it’s always the patients who get shafted.

The consequence of what was, in fact, a kindly observation of someone with some experience of these sort of issues – me – was that the atmosphere darkened as Ms Smith realized that I was not a “supporter”, as she had assumed, but had a detached view of the whole thing. I was not part of the Wakefield-journalist collaboration which then dominated British media discussion of MMR.

The next day, she spewed out a torrent of foul abuse (of the kind with which people who read Mr Olmsted’s blog will be familiar) in a letter to the editor of The Sunday Times (who just nine days ago singled out the MMR story in an article about investigative journalism). She didn’t then know that I had used a pseuonym. Her aim was to keep the material from public view – and perhaps just to vent her bile.

This abuse was so horrendous and bizarre that Mr Olmsted feels obliged to edit out of her letter some of the stranger stuff which I think, if read in context, would leave any rational person wondering about her sanity. He tells his reader(s) that he has only omitted “a few irrelevant details”. He lies. He has left out material which would tend to undermine Ms Smith’s credibility (incidentally, he is also presently grappling with how to leave out a direct allegation of fraud against Wakefield made in another letter by a Lancet 12 parent).

Even in 2003, my investigation was very time consuming. I hadn’t then looked into Ms Smith and I didn’t then know that talking to her amounted to talking to Wakefield. The pair of them were in it together. However, I did get from her a detailed account of what she said happened to her son (which broadly squares with her case in litigation), and it was at total variance with what was recorded in the Lancet.

This anomaly became the question. The answer only came when Wakefield made the biggest mistake of his life and sued me for libel in a “gagging” attempt to shut down further debate over MMR. For, in that action, I obtained a court order which permitted me to read the Lancet children’s medical records, and, armed with the arising insight, I then sat through the GMC hearing where those records entered the public domain.

In summary, not only are there no ethical irregularities in my work, but my stories on MMR are now widely-regarded as the textbook public interest investigation in the field of medicine. Hence, my second British Press Award, which, as every British journalist will know, are immensely difficult to win.

I think my option of Mr Deer actually was lower after reading this, if such a thing is possible. The only good things that comes from this passage are that Mr. Deer's motives in this whole matter are becoming clearer and that several unanswered questions have been answered.

Notice that Deer says that he was of the opinion that the whole Wakefield matter was a fraud "within a few days of starting my inquiries" back in 2003. I always thought the purpose of an investigation like the one he undertook was to find the truth of the matter, not to find the facts that meet your preconceived notions. Apparently I was wrong.

I am now quite convinced that Deer's sole motivation was simply to get a story and I think it is clear that he didn't really care about who got in his way.

As a case in point, consider the privacy of the children in Wakefield's study. Last year, I wrote about Mr. Deer's claims that he had the medical records of all twelve children involved in the study. I noted at the time that he should not have, use, or publicly discuss the contents of the records without the consent of the parents or the patients themselves. I wondered how he could have obtained access to the records.

Now, thanks to Deer's own words, we know that he obtained the records because Wakfield sued him for defamation. I think it goes without saying that the parents nor the children consented to the records being turned over to him. And notice the apparent glee that Deer feels about violating the medical privacy of children. He seems so fixated on attacking Wakefield that he does not seem to care about the children whom he is using as weapons.

As a parent, I cannot adequately express my outrage at his attitude. Children - especially children with disabilities such as autism - should not be used as pawns by a journalist, not matter what the circumstances. Does any parent out there feel differently?

My children have been in two studies so far and I would be absolutely furious if a journalist decided that he or she had some right to my children's medical records because they disagreed with what a researcher said.

Unfortunately, this sort of cavalier attitude fits with other comments that I have seen Deer make. For example, over two years ago I wrote about him commenting on some disabled children and saying "its no wonder that they have problems with their brains" given what their parents believe. Here are his exact words -

And they wonder why their children have problems with their brains.

And when he was called on that statement, he elaborated -

Well, actually Joseph, I didn’t intend that observation as an insult. I made it as a shorthand way of raising an issue that I believe may reasonably be raised.

I genuinely think that the three individuals I was criticising – and I know who all three of them are – do need to question whether their personal behavioural issues are indicative of a better explanation for their children’s issues. Certainly a lot better explanation than MMR.

The festering nastiness, the creepy repetitiveness, the weasly, deceitful, obsessiveness, all signal pathology to me.

Deer might have well been describing himself with that last remark. Wakefield might well have done many things wrong, but Deer is no better.

Did Brian Deer Use Deception to Collect Data Included in the BMJ Article?

2011-07-19T00:26:00.000-04:00

Flickr photo by Petroglyph

You know, there are certain topics that just won't just quietly slip into the night. Vaccines and autism is one, too much TV causing autism is another, and then there is the whole ~~Dr.~~ de-doctored Wakefield and Deer affair.

Before I say anything else, just let me say that this article is not about Wakefield. I am not trying to imply that I agree, disagree, endorse, or condemn the former doctor. This article is not about him, so before reading the following please try and put his name and all of the baggage associated with it to the side.

Have a clear mind? Ok, good. With your newly cleared mind, ask yourself the following question. Is it ever acceptable for an article published in a peer-reviewed journal to use deception to obtain data for the article?

According to an article published on Age of Autism, Brian Deer might have done just that in obtaining data included in his "peer-reviewed" article in the BMJ -

What Deer did not say in the BMJ article is that he had lied to the mother about his identity, claiming to be someone named “Brian Lawrence” (his middle name). Deer had written a number of critical articles about parents’ claims of vaccine injury, and if he gave his real name, he doubtless feared, Child 2’s mother would not agree to talk to him. Once she checked his blog, she would be more likely to kick him out of the family home than sit still for what turned into a six-hour inquisition.

He even created a fake e-mail address for his fake identity, and he used it to communicate with her: lawrence_b_st@yahoo.com.

Now, I am sure that your first reaction is a yes but.

Yes, but this is Age of Autism and everyone knows that are biased.
Yes, but this is Wakefied we are talking about and he is evil incarnate.
Yes, but whatever other reason you come up with that this either A. never happened or B. is excusable.

Remember, this isn't about Wakefield and two wrongs don't make a right.

A journalist can play fast and loose with the truth and still be considered good enough to be published in the newspaper. However, the standard for peer-reviewed research is much, much higher. The standard for research is informed consent - a person has to be given enough information to fully understand exactly is happening and what their options are.

So the question here is one of fact. Deer was either completely upfront about who he was and why he was doing the interview or he wasn't.

Consider what Deer said about this interview in the article in the BMJ -

I travelled to the family home, 80 miles northeast of London, to hear about child 2 from his mother. That was in September 2003, when the lawsuit fell apart after counsel representing 1500 families said that, on the evidence, Barr’s autism claims would fail.23 By that time, Mrs 2 had seen her son’s medical records and expert reports written for her case at trial.

Her concerns about MMR had been noted by her general practitioner when her son was 6 years old.24 But she told me the boy’s troubles began after his vaccination, which he received at 15 months.25 “He’d scream all night, and he started head banging, which he’d never done before,” she explained.

“When did that begin, do you think?” I asked.
“That began after a couple of months, a few months afterward, but it was still, it was concerning me enough, I remember going back . . .”
“Sorry. I don’t want to be, like, massively pernickety, but was it a few months, or a couple of months?”
“It was more like a few months because he’d had this, kind of, you know, slide down. He wasn’t right. He wasn’t right. Before he started.”
“Not quicker than two months, but not longer than how many months? What are we talking about here?”
“From memory, about six months, I think.”

The next day, she complained to my editors. She said my methods “seemed more akin to the gutter press.” But I was perplexed by her story, since there was no case in the Lancet that matched her careful account.

From the little bit of information included, it is almost impossible to know what the truth of the matter is. Deer's admission that the mother did call and complain to Deer's editors about his methods does lend credence to the idea that something he did wasn't exactly on the up and up.

If AoA is correct and Brian Deer did lie about his identity to obtain an interview then, by definition, he used fraud to obtain his "data". If those "data" were later included in his "peer-reviewed" article, then his article was based, at least in part, on fraud.

It may be impossible to know what exactly happened here, but I can say one thing with absolute certainty - outright fraud has no place in science. If statements included in the BMJ article were obtained fraudulently then the only ethical choice for the BMJ would be to retract the article.

Think of it this way, if any other peer reviewed article in the BMJ stated that one the subjects in the study had to call and complain about a researcher's conduct, what exactly would you think of the article? What would you think of the journal that published it?

I know there are a lot of ifs here, but between Deer's statements about the interview, the articles being commissioned by the journal, Deer's inherit bias against Wakefield, the BMJ's admitted failure to disclose a relevant financial conflict of interest, and now the accusation of fraud, this entire affair is starting to stink.

I guess this is what happens when prestigious medical journals consort with tabloid journalists.

Got Twin Studies?

2011-07-17T16:31:00.000-04:00

In light of the recent study showing that the concordance of autism in twins might not be what we think it is, I was going back and looking at historical twin studies. Specifically, I am looking for older studies that -

Compared identical (MZ) twins to fraternal (DZ) twins.
Compared the concordance of actual autism diagnoses using an established diagnostic test.
Had some way of determining which twins were identical or fraternal without having to resort to estimates.

There are plenty of studies that compare "autistic traits" in twins (I found at least 11 of these) but surprising few that look like they would meet the criteria above. So far I have found these -

Folstein, S, and M Rutter. 1977. “Infantile autism: a genetic study of 21 twin pairs.” Journal of child psychology and psychiatry, and allied disciplines 18:297-321. http://www.ncbi.nlm.nih.gov/pubmed/562353

Ritvo, ER, B J Freeman, A Mason-Brothers, A Mo, and AM Ritvo. 1985. “Concordance for the syndrome of autism in 40 pairs of afflicted twins.” The American journal of psychiatry 142:74-7. http://www.ncbi.nlm.nih.gov/pubmed/4038442

Steffenburg, S et al. 1989. “A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden.” Journal of child psychology and psychiatry, and allied disciplines 30:405-16. http://www.ncbi.nlm.nih.gov/pubmed/2745591

Bailey, A et al. 1995. “Autism as a strongly genetic disorder: evidence from a British twin study.” Psychological medicine 25:63-77. http://www.ncbi.nlm.nih.gov/pubmed/7792363

Kees, E.K., Hefter, R.L., Klaver, J., Schweigert, S.A., Arneson, C., Gernsbacher, M.A., & Goldsmith, H.H. (2005, June). Twin concordance for the autism spectrum based on community diagnoses and screening of a birth cohort. Behavior Genetics, 35, 809. (abstract)

Taniai, Hiroko, Takeshi Nishiyama, Taishi Miyachi, Masayuki Imaeda, and Satoshi Sumi. 2008. “Genetic influences on the broad spectrum of autism: study of proband-ascertained twins.” American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 147B:844-9. http://www.ncbi.nlm.nih.gov/pubmed/18361421

Schweigert,E. K., Gernsbacher,M. A., Hefter,R. L., Gottesman, I. I., Goldsmith, H. H. (2009, May). Twin Concordance for Autism: a Comparison of Multiple Diagnostic Criteria in a Population-Based Twin Study. INSAR Poster. http://imfar.confex.com/imfar/2009/webprogram/Paper4692.htm

Rosenberg, Rebecca E et al. 2009. “Characteristics and concordance of autism spectrum disorders among 277 twin pairs.” Archives of pediatrics & adolescent medicine 163:907-14. http://www.ncbi.nlm.nih.gov/pubmed/19805709.

Hallmayer, Joachim et al. 2011. “Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism.” Archives of general psychiatry 1-8. http://www.ncbi.nlm.nih.gov/pubmed/21727249 (Accessed July 10, 2011).

Does anyone know of any others?

Study : The ongoing dissection of the genetic architecture of Autistic Spectrum Disorder

2011-07-14T13:26:00.000-04:00

A paper was published this week that reviews the history and current status of the search for the genetic component of autism. Since the the genetics of autism has been getting a lot of attention this week, I though it might be appropriate to point this one out. If you have any questions about the search for the elusive genetic component of autism, you will want to read this paper.

The paper is open access so the full text is freely available.

The ongoing dissection of the genetic architecture of Autistic Spectrum Disorder
Rob F Gillis and Guy A Rouleau

Abstract
The development of robust, non-hypothesis based case/control studies has led to a large push forward towards identifying common genetic variants that contribute to complex traits. However, despite many attempts, the search for common disease-predisposing variants in childhood developmental disorders has largely failed. Recently, a role for rare causal variants and de novo mutations is emerging in the genetic architecture of some of these disorders, particularly those which incur a large degree of selection against the phenotype. Here we examine these data as well as use classic genetic epidemiological approaches to gain insights into the genetic architecture of ASD. Future studies using next generation sequencing should elucidate the precise role de novo mutations play in disorders traditionally thought to have resulted from polygenic or common disease, common variants inheritance.

Gillis, Rob F, and Guy a Rouleau. 2011. “The ongoing dissection of the genetic architecture of Autistic Spectrum Disorder.” Molecular autism 2:12.
Link

Jabberwocky of the Day : Age of Autism on Smiting

2011-07-13T11:00:00.001-04:00

As a parent of three children who suffer from autism, I can fully understand the difficulties and challenges that autism can bring to your life. I can understand that some days it seems like nothing you can do can alter the course of autism or make a dent in the problems that is causes. And I certainly understand that having to deal with autism can monumentally suck for both you and the child who, lets face it, gets the worst of it.

I get all that because autism has been a part of my family's life for many years now. And after all of these years, I think I can say that I truly understand the frustration and occasional hopelessness that that goes with it. I don't think that you can really understand what autism can be like unless you live it day after day.

I get that and so I normally don't comment on what other parents say about their experiences. I understand that these parents are under tremendous stress and are simply trying the best they can to deal with an unfortunate situation.

But (you knew that was coming, right?), there are times when someone takes it too far. In my opinion, Kent Heckenlively did just that in a post over at Age of Autism entitled "When I Can Do Nothing". In this post, Mr Heckenlively talks about his feelings of helplessness when it comes to the getting the world to accept his view of autism. He talks about how he has turned to religion to help him deal with his inability to make a difference. He says, in part -

I've been very busy lately.

Unfortunately, I can't talk much about it. What I can say is that on some level, my prayers to God for an understanding of the autism epidemic have been answered. I now know why they fear us so much. I can't prove it, and as a lawyer I understand that's the real show. But I know.

And yet, as thankful as I am for an understanding of what has happened to my child and so many others, my heart is heavy. The Dark Forces which in the past have destroyed the careers of those who have found clues to the afflictions of our children and other disease communities are once again on the move. You may very well read about their actions this week. And I can't do anything to stop them.

He goes on to talk about Stephen King's book The Stand and talks about how the forces of good in that book fought against the forces of evil. And from there he goes on to quote Psalm 94 from the Bible, a passage entitled "A Prayer for Vengeance".

I think the message he is trying to get across is pretty clear.

Now, I have absolutely no problem with religion or someone turning to religion to help them through a difficult time. It isn't my cup of tea, but I can understand why some people are religious and take comfort from their beliefs. But here is the problem.

There is no enemy here to smite.
There are no "Dark Forces".
There is no vast conspiracy to cause autism or to cover-up the cause of autism.

What there is is a large number of people who are doing what they think is the right thing. You might not agree with what they are doing and you might think that be acting out of their own self-interests. And who knows, you could be right.

But there is no demonic Randall Flagg who is in need of smiting. There are just mostly good people doing what they feel is the right thing to do. Which is exactly the same as what most parents do.

I can understand that scientific progress towards understanding exactly what autism is can be painfully slow. I can understand that, after over thirty years worth of research, science is not much closer to understanding what autism is let alone understanding how to fix it.

But the answer is to work together to try and advance our understanding and to help those that we can deal with the problems that autism causes. The answer is not to retreat into religion platitudes and to encourage your readers to engage in some holy war.

Doing that makes you look like you are nothing more than a cult.

Study : Perinatal and Neonatal Risk Factors for Autism

2011-07-12T20:10:00.000-04:00

I thought this study was interesting in light of the recent twin study suggesting that the environment may play a role in developing autism. The bottom line here seems to be that there isn't any known perinatal or neonatal factor that plays a large role in developing autism.

Perinatal and Neonatal Risk Factors for Autism: A Comprehensive Meta-Analysis
Hannah Gardener, ScD, Donna Spiegelman, ScD, Stephen L. Buka, ScD

Background: The etiology of autism is unknown, although perinatal and neonatal exposures have been the focus of epidemiologic research for over 40 years.

Objective: To provide the first review and meta-analysis of the association between perinatal and neonatal factors and autism risk.

Methods: PubMed, Embase, and PsycInfo databases were searched for studies that examined the association between perinatal and neonatal factors and autism through March 2007. Forty studies were eligible for the meta-analysis. For each exposure, a summary effect estimate was calculated using a random-effects model. Heterogeneity in effect estimates across studies was examined, and, if found, a meta-regression was conducted to identify measured methodological factors that could explain between-study variability.

Results: Over 60 perinatal and neonatal factors were examined. Factors associated with autism risk in the meta-analysis were abnormal presentation, umbilical-cord complications, fetal distress, birth injury or trauma, multiple birth, maternal hemorrhage, summer birth, low birth weight, small for gestational age, congenital malformation, low 5-minute Apgar score, feeding difficulties, meconium aspiration, neonatal anemia, ABO or Rh incompatibility, and hyperbilirubinemia. Factors not associated with autism risk included anesthesia, assisted vaginal delivery, postterm birth, high birth weight, and head circumference.

Link

Study : Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

2011-07-11T22:34:00.000-04:00

As I talked about last time, a new twin study entitled "Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism" was published earlier this month. Since this is probably going to be a memorable study, I thought I would go into exactly that it did and didn't show.

First of all, the study and an accompanying editorial are open access so the full text is freely available. If you are interested in the subject, I strongly suggest you go read both for yourself (see links at the bottom of this post).

The purpose of this study was to look at how common it is for identical and fraternal twins to both have autism. The conventional wisdom up to this point has been that if one identical twin has autism the other is almost certain to have it while if one fraternal twin has autism the other has roughly the same risk as any other sibling.

To that end, researchers used the records from California's Department of Developmental Services (DDS) to identity all twins both between the years of 1987 and 2004 where at least one of the twins had a qualifying diagnosis of autism. A qualifying diagnosis was either receiving services for autism, a code that indicated suspected autism, an actual diagnosis of autism, a code indicating intellectual disability of an unknown source, or another developmental disability.

A set of twins was eligible to be included in this study if the mother lived in California at the time of birth, at least one of the parents could read and speak either Spanish or English, both twins were currently living in California, both twins had a mental age of at least 18 months, and there was no history in either twin of "neurogenetic conditions that might account for autism" (such as fragile x, down syndrome, or tuberous sclerosis).

A total of 1,156 twin pairs met the these criteria.

Of these twins, 384 could not be contacted, 330 declined to participant, and 10 pairs were ineligible (not sure why), leaving 432 pairs of twins. Of these twins, 90 additional pairs declined to participate leaving 342 pairs (by my calculations at least, the study text has 333) that could have been evaluated in the study.

In the end, 202 out of the initial 1,156 twin pairs were evaluated. Each twin was evaluated with both the ADOS and ADI-R to establish whether they had either a narrow form of autism (autism), a broad one (asd), or no form of autism. These groupings would roughly correspond to classic autism (narrow) and pdd-nos and/or Aspergers (asd). The criteria that were used to group the twins into these groups were pretty conservative. In order to be included in either autism group both the ADOS and ADI-R had agree.

After the evaluation, another 10 twin pairs were excluded because neither twin met the definition of even the broad form of autism. This brings the total number down to 192 twins pairs.

As an aside, if you look in the supplemental material you can see that the majority of the twin pairs excluded (6 out of 10) had received services for "full spectrum autism" and another for "suspected autism". The study doesn't say whether it was one or both twins that had the diagnosis, but the fact that at least some some of this children once had a diagnosis of autism but no longer is yet more confirmation that it is possible to loose the label.

Although on the flip side, the researchers did diagnosis some of the twins with autism who did not have a diagnosis before. Which shows that it is possible for autism to be missed even when another child in the family is one the spectrum.

But getting back to the study, each of the remaining 192 pairs of twins were genetically tested to determine whether they were identical (MZ) or fraternal (DZ) twins.

For those of you who don't know, MZ twins come from one fertilized egg that, for reasons unknown, splits into two organisms sometime in the first two weeks after fertilization. Identical twins are, by definition, genetically identical - at least up until the point that they separate from each other. DZ twins happen when two eggs are fertilized at the same time and are basically the same as siblings except that they are conceived and born at the same time.

There are a few other important differences between MZ and DZ twins to be aware of. MZ twins normally share more prenatal resources (placenta and amniotic sacs) than DZ twins do. MZ twins are basically random and happen in all races around the world in about 1 out of 250 pregnancies. DZ twins, on the other hand, are strongly dependent on the mother's age, race, and family history. The chance of having DZ twins goes up as the mother gets older and the rate of DZ twinning can vary pretty drastically depending on where you look.

So, out of the 192 sets of twins, 45 were found to be male-male identical twins, 9 female-female identical twins, 45 male-male fraternal twins, 13 female-female fraternal twins, and the last 80 were male-female fraternal twins.

The researchers then looked at how many of each twin pair either both had a narrow version of autism or a broad one in common. The results were somewhat surprising. The following numbers are in terms of how many of the twin pairs both had the condition (pairwise) rather than the more confusing notion of probandwise. If you want to see the numbers the other way, look at table 2 in the study text.

In the male-male identical twins -
42.5% both met both met the criteria for strict autism
64.4% both met both met the criteria for broad autism

In female-female identical twins -
42.9% both met both met the criteria for strict autism
33.3% both met both met the criteria for broad autism

In male-male fraternal twins -
12.9% both met both met the criteria for strict autism
20.0% both met both met the criteria for broad autism

In female-female fraternal twins -
20.0% both met both met the criteria for strict autism
30.8% both met both met the criteria for broad autism

In male-female fraternal twins -
3.6% both met both met the criteria for strict autism
6.3% both met both met the criteria for broad autism

There are few notable things about these numbers.

First, the concordance rate for male and female identical twins is lower than would be expected from other estimates in the past.

Second, the concordance rate for same sex fraternal twins is much higher than would be expected.

Third, if you look at the difference between identical and fraternal female-female twins and compare that to the number for male-female fraternal twins, you will see something odd. It looks like having a female co-twin instead of a male greatly increases your chance of having autism. I could understand that happening with identical twins but I don't understand why fraternal twins have the same result. This might just be a result of having a small number of female-female twins (22) but I am skeptical.

Finally, the concordance between opposite sex fraternal twins should give us a good baseline of where typical siblings would fall using the same criteria. It isn't an exact comparison because there are risk factors associated with twin births (maternal age, prenatal complications, premature birth) that have been shown to increase the risk of autism. This range of concordance (3 to 6) agrees with other non-twin sibling results in the past.

The researchers used a variety of statistical models which took into account a number of different factors in an attempt to explain the results. They also cross checked the twins who participated in the study against those who didn't to ensure that they didn't get a biased sample. They found no glaring problem that they could see, so their conclusion, in their own words, was -

The results suggest that environmental factors common to twins explain about 55% of the liability to autism. Although genetic factors also play an important role, they are of substantially lower magnitude than estimates from prior twin studies of autism. Nearly identical estimates emerged for ASD, suggesting that ASD presents the same liability spectrum as strict autism.

On in other words, the researchers think that their data shows that autism is more environmental than genetic. This result is obviously at odds with what other twin studies have shown and some consider it to be controversial.

Now, there are a few possible problems with the study.

First, a substantial part of the twin population did not participant in this study. It is possible that the twins that did participate were not representative of the entire twin population or that there was something different about the twins who did participant.

Second, the number of identical twins in the sample is rather small. If there was any skewing in which twins participated, it could have been amplified by having only 54 identical twin pairs in the study. On the other hand, not many other studies in the past have had even 54 confirmed sets of identical twins.

Third, the study excluded known genetic causes of autism. Doing so could have artificially lowered the number of identical twins who both had autism because both identical twins would presumably have the same genetic problem and could have raised the number fraternal twins who did so because, again presumably, fraternal twins who would not have been co-morbid for this other defect were excluded.

Finally, it is possible that the results could be explained by some risk factor specific to twins. All types of twins are more likely to have prenatal problems, be born premature, or have a lower birth weight. All of these factors are thought to increase the risk of autism. Fraternal twins are far more likely to be born to older mothers than either identical twins or non-twin siblings. Older maternal age is also another risk for autism.

However, if this were a major factor, I would have expected the concordance of opposite sex twin pairs to be much higher than it was. This is the largest single group of twins included in the study and yet it has the lowest concordance.

There are a few strengths of the study as well.

First, the twins included in this study were a sample drawn from a large population and should be more representative of twins in the general population than other studies in the past. California's DDS is thought to serve the majority (greater than 80%) of children with autism in the state, so it is likely the initial sample included the majority of twins with autism born during the relevant period.

Second, each pair of twins included in the analysis were genetically tested to see whether they were identical or fraternal twins. Other recent twin studies have either relied on parental reports or have used estimates to determine which twins were fraternal and which were identical. Both of these methods suffer from serious flaws that could easily miscategorize identical twins as fraternal or fraternal twins as identical.

The only reliable way to tell the difference between the two types of twins is if they are the opposite sex or if they are genetically tested.

Finally, this study used a far more rigorous and conservative way of determining which twins had autism than did past studies. This may have caused the concordance numbers to be lower than they would under a broader definition, but if it did that would bump the numbers for the fraternal twins as well as the identical ones.

All in all, this is a pretty solid study that casts doubt on the idea that autism is primarily a genetic condition.

References

1. Hallmayer, Joachim et al. 2011. “Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism.” Archives of general psychiatry 1-8. http://www.ncbi.nlm.nih.gov/pubmed/21727249.
DOI : 10.1001/archgenpsychiatry.2011.76

2. Szatmari, Peter. 2011. “Is Autism, at Least in Part, a Disorder of Fetal Programming?” Archives of general psychiatry 1-2. http://www.ncbi.nlm.nih.gov/pubmed/21730328
DOI : 10.1001/archgenpsychiatry.2011.99

Autism in Twins : The World Isn't Flat

2011-07-10T14:10:00.000-04:00

Earlier this month a paper¹ was published that took (yet) another look at autism in twins and found that autism might not be as "genetic" as once thought.

In a nutshell, this paper found that the number of identical twins who both have autism is lower and the number of fraternal twins who both have autism is significantly higher than once thought. When you consider the findings separately or together, it all points to the fact that environmental factors play a far larger role in autism than was previously thought.

I think the most surprising thing about this study for me is how many people seem to be taken off guard by this finding. This isn't the first recent twin study to show at least some of these results. In fact, I wrote about one that suggested that autism was far more common in fraternal twins than was thought almost two years ago.

But even ignoring recent twin studies, the purely genetic model has, even after decades of searching, failed to find any mutations that could account for more than an minority of cases of autism. As each passing study not only failed to find any single mutation that could account for more than a small handful of case but also (mostly) failed to confirm the small mutations from the last study, it became clear (at least to me) that genetics alone could not determine whether someone developed autism.

Sure, you can take all of the prior studies together, put on your optimistic glasses, and say that you might be able to point to the genetic "cause" for up to 30% of all cases² of autism. But that presumes that each of the individual "causes" that have been identified are in fact causes and not simply random chance. It also assumes that a given person would only have one of these "causes". Since most of these "causes" have been identified in only an extremely small group of people, I think it is far more likely that most of these mutations are simply chance and have nothing to do causing autism.

But, for the sake of argument, lets say that you could take a random group of 100 people with autism and find the genetic "cause" in 30 of them. That would still leave the overwhelming majority of cases without a known cause. What does it say when about the correctness of a theory when it fails to account for the majority of cases?

In most of science, if you had a hypothesis that has failed to be confirmed by hundreds of studies over several decades, that would be called a failed hypothesis. But when it comes to autism, that is called the prevailing theory. And the reason that this theory has survived is the results of past twin studies that found that autism seemed to be mostly genetic.

Enter the current study that very meticulously shows that identical twins often don't share their autism and that fraternal twins do so more than other siblings. These findings have effectively taken out the foundation that the genetic only theory of autism was based on. So when you consider that not only has the genetic theory failed to find any major results but also that it might rest on a flawed foundation, I think it is very clear that the theory is dead in the water.

Now, before anyone takes this the wrong way, it is still obvious that there are genetic causes of autism and that genetics does still play a large role in developing autism. However, we can now say (with an almost certainty) that environmental factors also play a large role.

The world of autism is no longer flat.

References

1. Hallmayer, Joachim et al. 2011. “Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism.” Archives of general psychiatry 1-8. http://www.ncbi.nlm.nih.gov/pubmed/21727249.
DOI : 10.1001/archgenpsychiatry.2011.76

2. Schaaf, Christian P, and Huda Y Zoghbi. 2011. “Solving the autism puzzle a few pieces at a time.” Neuron 70:806-8. http://www.ncbi.nlm.nih.gov/pubmed/21658575
DOI : 10.1016/j.neuron.2011.05.025

The Need For Awareness and Acceptance

2011-07-05T22:49:00.000-04:00

There is often talk in the autism world about the need for more awareness and acceptance of people with autism. But what exactly is meant by awareness and acceptance changes depending on who is doing the talking and what group they are talking for. If you spend any time at all listening to what all of the various groups want, you would come to the conclusion that there is an entire spectrum of what exactly awareness and acceptance means.

But one thing that I feel gets overlooked most of the time is basic awareness of what autism is (and isn't) and the acceptance of the fact that, some of the time, people with autism are not able to properly react to a given situation. There are going to be times when a person with autism is not going to be able to control themselves and they are going to have a meltdown. Or they are going to act in such a way that could cause problems for themselves and others.

The general public just doesn't get it and that is a problem. A problem that is mostly overlooked by the autism self-advocacy and neurodiversity groups.

Take for example an opinion piece that appeared today on CNN entitled "Permissive parents: Curb your brats". In this lovely article, LZ Granderson exudes acceptance and awareness as he prattles on about how parents need to control their children better -

If you're the kind of parent who allows your 5-year-old to run rampant in public places like restaurants, I have what could be some rather disturbing news for you.

I do not love your child.

The rest of the country does not love your child either.

And the reason why we're staring at you every other bite is not because we're acknowledging some sort of mutual understanding that kids will be kids but rather we want to kill you for letting your brat ruin our dinner.

Or our plane ride.

Or trip to the grocery store.

Or the other adult-oriented establishments you've unilaterally decided will serve as an extension of your toddler's playpen because you lack the fortitude to properly discipline them, in public and at home.

He goes on like that for some time. In a way, he does have a point. We have all run across parents who seem unwilling or able to control their children. But then again, there is also a large group of children (perhaps as many as 1 in 10) that have "invisible" disabilities such as autism or ADHD that hamper their ability to properly behave in public. These children look "normal" but have very real problems that they need help with.

But Mr. Granderson seems to be in such a rush to judge that he doesn't stop to consider that fact. He doesn't seem to understand that, sometimes, parents are doing the best that they can to manage their child's behaviors. Nor does he seem to understand that sometimes you have to let the child misbehave, scream, or cry in public in order to break them of the behaviors.

There was a time a few years back when we were glared at every time we went into public. Back then, twin B decided that she wasn't going to walk in public and she didn't want to go into any store.

Obviously, that was somewhat of a problem and we had two choices on how to handle it. We could either stay at home and hope that someday she would learn how to deal with walking in public and being in a store or we could push ahead with going out and teach her how to deal.

We chose the second option and, for the next few months, we tried a variety of approaches to help her deal with her problem. During that time I could frequently be spotted trying different ways to get her to walk or pushing a cart with a child screaming bloody murder at the top of her voice (as an aside, during this time we learned that she has very health lungs and an extremely good vocal range).

To make a long story short, we eventually found ways to break through the behaviors and now she will walk in public and go into any store without even a whimper. But for a while there, it was a little rough and we were on the receiving end of a lot of angry glares.

I imagine that if we would have run into Mr. Granderson he would have given us "the look" for daring to inconvenience whatever it was that he was doing. By his way of thinking, we should have kept Twin B at home until we had disciplined her enough so she knew to behave in public.

But what he doesn't seem to be aware of is the fact that the only way that we were going to stop the behavior was by going into the environment that triggered it. You simply can't address a location specific problem without going to the location.

What he also doesn't seem to realize is that you can use "the look" as much as you want on some children with autism - it just doesn't work. Many children with autism simply don't process facial expressions well enough or don't process them well enough in stressful situations for that to be an effective method.

And other forms of traditional discipline can be almost as worthless. If you want to have a good time, try putting a child with vocal stims in timeout. They won't care because they can amuse themselves for hours with just the sound of their own voice.

Mr. Granderson clearly lacks the awareness of what exactly is involved in dealing with autism and I am not sure that he would accept it even if he heard it. But if you think that Mr. Granderson's ignorance is bad, try reading the comments on the article. I think this one my favorite -

AUTISTIC CHILDREN THAT ARE NOT CAPABLE OF BEHAVING DO NOT BELONG IN RESTAURANTS! PERIOD! YOU ARE NOT "ENTITLED" TO RUIN EVERYONE ELSE'S MEALS WITH YOUR UNRULY CHILD. Sorry about your luck, life hands out tough ones sometimes and you will have to deal with it.

Talk about needing some awareness. I would love to be able to drop on my children off at this person's house for a weekend and see if he changes his mind about autism by Monday. However, I like my children enough to not want to subject them to this idiot.

However, people like this are really just an annoyance that parents of children with autism need to deal with. I find that, for me, simply standing your ground and glaring back takes care of most of these people.

Unfortunately, there are other times when awareness literally means the difference between life and death. Such as this story out of Florida -

Largo, Florida - Police called out to a domestic disturbance Thursday say they were forced to shoot and kill an 18-year-old man armed with a knife shortly after entering the apartment he shared with his mother.

Nicholas Pesare had Asperger's Syndrome, a form of autism, and difficulty with social interaction. His mother, Anne Polce, says she called officers hoping they would take him to a mental evaluation center for medication. Instead, she says two officers walked into her apartment and, within seconds, there were three gunshots and her son was dead.

Based on the little bit of information that is available, I don't think this young man had to die. If the police had had a better idea of how to deal with an autistic meltdown then perhaps Nicholas would still be alive.

This is definitely an area were more awareness of exactly what autism is could save lives. Emergency personal and police need better training on what to do when dealing all types of autism - from non-verbal children to sometimes violent young adults, and everything in between. It is literally a matter of life and death.

People With Autism Don't Have X-Ray Vision After All

2011-07-03T22:38:00.000-04:00

As reported by Neuroskeptic and Cracking the enigma, a new study shows that people with autism don't have any special visual abilities after all. I don't think I can add anything to the explanation of the initial report and the circumstances of the current follow-up study since both of the other sites have done such a good job of explaining the details.

The only question I do have is why this whole situation arose at all. How did a study that claimed that -

Individuals with ASC have significantly better visual acuity (20:7) compared with control subjects (20:13)-acuity so superior that it lies in the region reported for birds of prey

ever get published in the first place? You don't need to be any sort of skeptic to see that the idea is far-fetched on face value without even looking at the details.

Here's a suggestion to future peer-reviewers - if a study compares any facet of autism to a specialized or enhanced characteristic of an animal, you might want to look very closely at what the research claims to show. Because chances are it is going to be wrong.

I think the larger issue here is what appears to be a general trend among people who deal with autism - from parents to doctors to therapists to researchers - to want to assign some sort of special gift to people who have autism.

Why do people look at the sensory issues in autism and try and prove that the sensory issues are actually a good thing because they can see or hear or touch better than the rest of us? Is that supposed to make up for the fact that the distortion of the other senses must be almost torture to live with?

Why do people think about the repetitive and restricted interests in autism and decide that it is a blessing because they have strong interests that they can really focus on? I can really focus on a topic when I want to and can really push myself to become extremely knowledgeable about it. But I also have the freedom to decide to not to pay attention to it and to focus on something else. I don't know that people with autism have that same freedom.

Why is it that people who are otherwise very rational take a look at people who have the disability known as autism and decide that they must have some special gift to go along with the autism? In my experience, people with autism have the exact same proportion of special gifts that the rest of the population does.

Are the gifts commented on more because they stand out because of the stark contrast between the area of gift and the autism effected areas? Or is it that people in the field want to focus on the gifts to make themselves feel better about the whole autism thing?

Why is there all of this romancing the spectrum and how does this nonsense make its way into the published scientific literature?

I just don't get it.

Prenatal Vitamins and Parental Responsibility

2011-07-02T10:34:00.000-04:00

Flickr photo by beautifulcataya

If you really want to piss off a parent whose child has autism, just tell them that they are in some way responsible for their child's condition. That accusation takes us back to the bad old days of autism when the prevailing theory was that autism was caused by cold and uncaring parents.

Fortunately, that sort of thinking has disappeared from the medical world and only survives in ignorance of the general public. Or has it?

As Harold Doherty pointed out on Facing Autism in New Brunswick, a "science" blogger by the name of Harriet Hall, MD (aka SkepDoc) seems to have just suggested that parents, mothers specifically, are responsible for their children's autism.

The statements that I am talking about come in the context of a recent study that found that prenatal vitamins may decrease the risk of autism when taken during the 3 months before or the first month of the pregnancy. The results of the study are somewhat confusing, to say the least. On the one hand, the study seems to say that the simple act of taking prenatal vitamins before pregnancy might help to prevent autism.

But then you have to consider that another study suggested that prenatal vitamin use during pregnancy was associated with a greater risk of autism. And then there is the fact that, over the past several decades, prenatal vitamin use has become much more common (at least in the U.S.). So if prenatal vitamin use played a large role in autism, I would expect that the rate of autism would have dropped as prenatal vitamin use increased, which certainly hasn't happened.

I also have to wonder if the study controlled for whether the pregnancy was planned or unplanned. It is much more likely that the mother would be taking prenatal vitamins if the pregnancy were planned than if it weren't. I haven't read the full text of the study and the abstract doesn't specify whether that was taken into account. If it wasn't taken into account then I suspect that could account for the results of the study.

But back to the point. In the context of talking about this study, Dr. Hall had this to say -

How will the anti-vaccine contingent react to this new study? It was convenient and satisfying for parents to be able to blame vaccines and accuse the evil medical establishment of causing their children’s autism. Now will those parents accept that at least part of the responsibility lies with their own genetic contributions and the mother’s actions prior to pregnancy? That’s not as palatable a thought, but it’s more realistic.

In this context, the word "responsibility" says that parent's are responsible for their child's autism. Responsible, according to dictionary.com, means -

answerable or accountable, as for something within one's power, control, or management (often followed by to or for ): He is responsible to the president for his decisions.
involving accountability or responsibility: a responsible position.
chargeable with being the author, cause, or occasion of something (usually followed by for ): Termites were responsible for the damage.
having a capacity for moral decisions and therefore accountable; capable of rational thought or action: The defendant is not responsible for his actions.

The core idea behind the word in this context is that the parent had the ability to control a situation and so the result of the situation is because of what the parent did or didn't do.

So back to Dr. Hall's statements.

The idea that a parent is "responsible" for their "genetic contributions" just doesn't make sense. A person has no ability to control their genetic code nor can they make any impact on which parts of it are passed onto their children. The only decision that you can make in regards to your genetic code is whether to have children or not. So the only "responsibility" here is the decision to have a child in the first place.

Perhaps more to the point, if a parent has some unknown genetic mutation that interacts with some unknown environmental influence, are they "responsible" for the outcome of that interaction even if they have no knowledge (or way of knowing) about either factor? I don't think so.

The second part of the idea is that the mother is "responsible" for their actions prior to the pregnancy and this is true, to a point. If you do something during (or before) the pregnancy knowing that it will harm the child, then you are responsible for the outcome.

But if you have no idea that a specific action or inaction can lead to an outcome like autism, can you really be "responsible" for the outcome? The word "responsible" implies a choice as well as the ability to control. If you have no knowledge that there even is a choice to be made or that you can control the outcome, can you be "responsible" for the outcome?

In general, that question is hard to answer. However, when you are talking about evidence based medicine, the answer is simple.

In evidence based medicine, the only things that you should be doing (medically) are those things that are supported by the evidence. If there is no evidence to support the action, then you shouldn't be doing it. So, under evidence based medicine, can you really say that someone is "responsible" for failing to take an action that is not supported by evidence?

I think the answer is an obvious no.

So how can a science (aka evidence-based medicine) blogger such as Dr. Hall cast "responsibly" onto a parent for listening to what evidence based medicine has to say? And do we really want to let medical doctors get back into the habit of blaming the parents for their child's autism?

Jabberwocky of the Day : Autism an Advantage for Cavemen

2011-06-21T21:31:00.000-04:00

Flickr image by Jason Schleifer

Did you know that autism might have been an advantage for hunter-gatherers in prehistoric times?

No, you can stop laughing, I am serious. There was actually a paper published (and covered on Science Daily) a few weeks back that suggested that "the autism spectrum may represent not disease, but an ancient way of life for a minority of ancestral humans."

I don't want to copy the entire article from Science Direct (even though the entire thing is a riot) so here is just some highlights -

The "autism advantage," a relatively new perspective, contends that sometimes autism has compensating benefits, including increased abilities for spatial intelligence, concentration and memory. Although individuals with autism have trouble with social cognition, their other cognitive abilities are sometimes largely intact.

The paper looks at how autism's strengths may have played a role in evolution. Individuals on the autism spectrum would have had the mental tools to be self-sufficient foragers in environments marked by diminished social contact, Reser said.

The penchant for obsessive, repetitive activities would have been focused by hunger and thirst towards the learning and refinement of hunting and gathering skills.

Today autistic children are fed by their parents so hunger does not guide their interests and activities. Because they can obtain food free of effort, their interests are redirected toward nonsocial activities, such as stacking blocks, flipping light switches or collecting bottle tops, Reser said.

The paper is available for free online if anyone cares to read it. I made it through the first two pages but I couldn't make it through any more than that. Who knows, maybe this guy has the right idea but I tend to doubt it. It sounds more like he has never met a person with even moderate autism let alone any children with autism.

There are so many wrong ideas in even the first two pages that it is hard to know where to start talking about it. For example, the paper suggest that people with autism are "ecologically competent individuals that could have been adept at learning and implementing hunting and gathering skills".

As anyone who has struggled to teach their child to teach their child even basic skills can tell you, teaching children with autism is rarely easy. There is a very good reason why behavioral therapies such as ABA are popular for teaching children with autism and that is because they don't normally learn naturally or from their environment. To call most children with autism "adept" at learning about the environment is like saying that a rock is "adept" at swimming.

And the idea children with autism are aware of their environment? Many parents struggle with day to day basic safety concerns because their children have no awareness of their environments. My children would walk out directly in front of a speeding car without blinking an eye. They would walk up to a polar bear and poke it in the stomach, which would definitely not be "ecologically competent".

Maybe this is all supposed to change when children achieve "independence from their mothers"... Wait, how many children who have autism actually grow up to be able to live independently? I know there are some but I don't think that it is the majority.

Talk about one of the greatest fears that parents have for their children. I am worried - like many other parents - whether my children will ever be able to learn enough skills to be able to function on their own. Yet this paper assumes that young adults will automatically be able to achieve independence. The hunter-gatherers must have had some kick-ass services available to be able to make that leap of faith.

But I think the most absurd idea here is that some trivial external factor such as hunger could refocus the repetitive and restricted interests of autism. After having dealt with the repetitive and restricted in three children for over five years, I can confidently say that I don't think that it is really possible for any external factor to force these obsessions into a desired form. You can extinct, redirect, distract, plead, beg, or threaten until you are blue in the face and still not make a dent in the behaviors - let alone changing them to focus on something specific.

I wish that someone had told me that all I had to do to refocus the behaviors was to withhold food. Because I spend at least an hour a day trying to get my kids to eat more. Left to their own devices, I swear that they might forget to eat or only eat pretzels. But according to this paper, letting the kids go hungry might help them able to be better survive on their own and learn that poking the polar bear would be a really bad idea.

Yeah, uhm, I am going to go out on a limb and say that I don't really think that it would work like that.

But seriously, I think the gentleman who wrote this, err, paper needs to get out in the real world and work with some real kids on the spectrum before coming up with any more theories.

P.S. The bit about starving children and withholding food is obviously a joke.

P.P.S That is unless it actually works in which case there are going to be a lot of hungry children with autism shortly.

P.P.P.S. Just in case, maybe someone should bring Dr. Lovaas back from the dead to tell him that he had the right idea but was using the wrong reinforcer.

References (and I use that term loosely)

Jared Edward Reser. Conceptualizing the autism spectrum in terms of natural selection and behavioral ecology: The solitary forager hypothesis. Evolutionary Psychology, 2011; 9 (2): 207-238

What if Autism Isn't a Neurodevelopmental Disorder?

2011-06-19T11:11:00.000-04:00

Picture from Wikimedia Commons

Autism is typically thought of as a neurodevelopmental disorder. It is assumed that something goes wrong early in a child's development and that the brain doesn't develop properly and that the result is permanent.

But what if that wasn't the case?

According to some recent research, the symptoms of Rett Syndrome (a form of autism) might caused by the continuing lack of the protein MeCP2 rather than problems with growth and development of the brain caused by the lack of MeCP2. If that seems like splitting hairs, it really isn't. That simple distinction means that Rett's might not be a neurodevelopmental disorder after all.

For those of you who don't know, Rett Syndrome is (currently) one of the five conditions that together make up what is known as the autism spectrum. However, Rett's is somewhat different from other forms of autism. It is rather rare (1 in 10,000) and effects girls almost exclusively. It also tends to involve physical issues such as loss of motor control, severe digestive problems, and heart problems. However, unlike other types of autism, a probable mechanism for the problems of Rett Syndrome has been identified - mutations in the methl-CpG-binding protein 2 (MeCP2) gene.

Because there is a known genetic mutation as well a known biological pathway that is disrupted, researchers have been able to create a number of different model of what Rett's looks like in mice. Using these mice, researchers have been able to test a number of different theories about Rett's and this work has lead to a better understanding of the condition.

Early last year, researchers demonstrated, using mice that were deficient in MeCP2, that if you could restore the levels of MeCP2 in the brain that the mice's Rett-like symptoms would be reversed. That part isn't too surprising but it does show that Rett's is an ongoing process.

What is more surprising is work done just this year. This time researchers took mice that developed normally with the proper level of MeCP2 and removed their ability to produce this protein as an adult. Once the protein was removed, these mice developed the same Rett-like symptoms as mice that were MeCP2 deficient their entire lives.

As a result, researchers are now shifting from thinking about Rett's as a condition that is caused by the lack of this protein during critical developmental periods (i.e. neurodevelopmental) and instead thinking about it as a life-long condition that is caused by the lack of this protein.

Or in other words, even though Rett's is "genetic", it is caused by an ongoing biological process and it should be possible to "cure" the condition by correcting this process. So while there is not yet any cure for Rett's, the possibility of a cure for everyone with Rett's just got a little closer to reality.

What I find interesting is that Rett's isn't the only known "genetic" cause of autism that works like this. In recent years Fragile-X, the leading genetic cause of intellectual disability and autism, has been shown to be reversible in adults and there are actually drugs in the works that might be able to do just that.

So what if other forms of autism aren't neurodevelopmental disorders either? What if, like Rett's and Fragile X, other forms of autism are caused by an ongoing biological process rather than caused by something that went wrong during early development? I think there is certainly enough evidence of ongoing biological disruptions in people with autism to make this a possibility.

ASAN Declares Opposition to Autism Research, Surveillance, Education, Early Detection, and Intervention

2011-06-03T22:17:00.000-04:00

The Autistic Self Advocacy Network, otherwise known as ASAN, has announced that they oppose renewing the Combating Autism Act. For those of you who don't know, the Combating Autism Act (CAA) was passed in 2006 in response to the growing public health crisis of autism.

The purpose of the CAA was to -

Develop disabilities surveillance and research programs.
Create programs for autism education, early detection, and intervention.
Establish the Interagency Autism Coordinating Committee (IACC) to co-ordinate all of the efforts within the Department of Health and Human Services relating to autism.
Create two more Centers of Excellence on Autism.

The act authorized spending roughly 200 hundred million a year in these areas. If you want a road map to what exactly the results of this act have been, you should look at the information provided on the IACC's web site.

While there is always room for improvement, the Combating Autism Act has been beneficial for people with autism and their families. It has brought much needed attention and funding to deal with the ever increasing problem that is autism.

However, the CAA is reaching the end of its initial five year life span and needs to reauthorized by Congress for the programs it funds to continue. The renewal of the act is currently before Congress and, perhaps surprisingly for some, ASAN has declared that they are against it being renewed. Their position, in the words of ASAN president Ari Ne'eman, is -

While we respect the good intentions of the co-sponsors and value their interest in autism legislation, passing a 3-year extension of the current unacceptable status quo would do real harm to Autistic people and our families. This legislation would keep in place a status quo without services, without consideration of the needs of adults and without inclusion of self-advocates. We urge Members of Congress to oppose any long term extension without needed program reforms.

In what amounts to a big F you to the majority of people on the autism spectrum and their families, ASAN is whining that because they don't get enough of the benefits from the CAA that no one should benefit.

Yet they are clearly missing the point that the CAA was not meant to fund adult services. The purpose of the CAA was to do much needed basic research and to help set up screening, diagnosis, and intervention programs. It was never about providing funding for adult services nor was it about having "self-advocates" dictate the direction of autism research. I think it is better to leave those decisions to those actually qualified to make them - i.e. scientists and researchers.

Although when it comes down to it, the idea that "self-advocates" are excluded from the process is absurd on its face. Two out of the 11 public members of the IACC are "self-advocates" including Ari Ne'man, the head of ASAN. They have almost the same representation on the committee that parents whose children have autism do.

No, their entire point basically boils down to the fact that because they don't control the agenda and that they don't get enough of the money that the whole thing should be scrapped. As they did with the wandering issue, ASAN has taken an ideological stance that is completely at odds with the needs of the majority of people who have autism.

What ASAN should be doing is advocating for additional funding for adult services, not trying to sabotage the funding for research and programs that will benefit everyone with autism.

Study Watch : Autism Prevalence in Utah Increases Again

2011-06-03T12:53:00.000-04:00

Yet another prevalence study, this time from the state of Utah. Researchers are estimating that the administrative prevalence of autism in eight year olds increased (cough) only 100% between 2002 and 2008 to 1 in 77 children. That is up from the the 1 in 133 that was found in 2002 which was itself a 20 fold (1900%) increase from the prior estimate in the eighties. At the time, the 2002 number was called an "urgent public health concern".

Since this data point is already 3 years old, I have to wonder how much our "awareness" has increased the number since then. If it has continued to grow at the same rate that would put it at about 1 in 50 today.

It is a good thing that autism isn't becoming more common because otherwise I might have to start worrying.

There is a short post about this study over at Questioning Answers if you are interested.

Changes in the Administrative Prevalence of Autism Spectrum Disorders: Contribution of Special Education and Health from 2002-2008.
Pinborough-Zimmerman J, Bakian AV, Fombonne E, Bilder D, Taylor J, McMahon WM.

University of Utah, Salt Lake City, UT, USA

Abstract
This study examined changes in the administrative prevalence of autism spectrum disorders (ASD) in Utah children from 2002 to 2008 by record source (school and health), age (four, six, and eight), and special education classification. Prevalence increased 100% with 1 in 77 children aged eight identified with ASD by 2008. Across study years and age groups rates were higher when health and school data were combined with a greater proportion of cases ascertained from health. The proportion of children with both a health ASD diagnosis and a special education autism classification did not significantly change. Most children with an ASD health diagnosis did not have an autism special education classification. Findings highlight the growing health and educational impact of ASD.

PMID: 21538173

Study Watch : Autism Prevalence in Iran

2011-06-02T18:05:00.002-04:00

I found this estimate of the rate of autism in Iran to be interesting, especially in light of the recent estimates from countries like South Korea. I don't know exactly what time frame this study looks at but I would guess that it would be looking at children born since 2000 or so.

There is certainly a big difference between the 264 per 10,000 estimated in South Korea and the 6 per 10,000 found in this study.

A National Study of the Prevalence of Autism Among Five-Year-old Children in Iran.

Samadi SA, Mahmoodizadeh A, McConkey R.
University of Ulster, Northern Ireland, UK.

Abstract
In Iran, more than 1.3 million five-year olds have been screened for autism over three academic years, with the Social Communication Questionnaire (SCQ). The Autism Diagnostic Interview-Revised (ADI-R) is used to confirm a diagnosis of typical autism. The resulting prevalence of 6.26 per 10,000 for typical autism is in line with rates for certain countries but is lower than those reported recently for some Western nations. This may be due to the younger age range assessed but the suitability of the tools and aspects of Iranian culture could be other reasons for the lower prevalence. International comparisons of prevalence rates is fraught with difficulties, but it is a valuable endeavour as it can identify issues around cultural and societal perceptions of children's development.

Pubmed ID : 21610190

DOI : 10.1177/1362361311407091

Ken Reibel's Obnoxious Streak

2011-06-01T21:15:00.000-04:00

Another year, another round of autism conferences, and Ken Reibel (aka Autism News Beat) is at it again. He is complaining because he got kicked out of yet another Autism One conference.

Albert Einstein once said that the definition of insanity was doing the same thing over and over again and expecting a different result. So let me ask you, if you have tried to pull the same stunt on numerous different occasions and had the same result each time, would you try it again?

You would if your name was Ken Reibel.

Three years ago, Mr. Reibel was booted from the Autism One conference for being obnoxious towards one of the presenters and video taping some presentations.

Two years ago, Mr. Reibel was denied a press pass to the Autism One conference because he was violated the ban on video taping the prior year (and possibly on general principal).

Last year, it looks like Mr. Reibel sat out the Autism One conference, but he did get his right to attend a TACA conference revoked. The reason was that the conference organizers wanted to create a safe and supportive environment and Mr. Reibel had been disruptive at prior autism conferences.

This year, Mr. Reibel attended the Autism One conference and, lo and behold, he got booted again.

Of course, he and the reset of the "science" based crew are complaining their heads off about the affair. But despite all of the uproar from the pseudo-facts groups about how Mr. Reibel did nothing "wrong", his own words condemn him. He wrote -

We stopped near a hyperbaric oxygen tank display. I wondered if it mattered to anyone that a recent paper co-authored by Wakefield found no benefit from HBO for the symptoms of autism. So little of what I had seen and heard made sense.

Then Jamie took her 35mm SLR digital camera out of her handbag and snapped a picture of an HBO poster.Seconds later the conference organizer, Teri Arranga, walked up to us. She was all business. “There is no photography allowed here,” she said. To prove her point, Teri sent a volunteer to bring back one of the many signs posted throughout the area that said “No video or audio recording allowed.”

Jamie pointed out, politely and correctly, that a 35mm camera which only takes still pictures is not a video or audio recorder. ...

Yet if you look at the conference policies that are linked to from conference registration page, you would see this very clear section -

No recording of any type is allowed without prior written permission. Any individual using audio, video, or other recording or photographic devices without current written authorization from the conference organizers may be required to leave the conference.

It is obvious that taking a picture clearly falls under this policy. It doesn't matter if their were signs posted at the event that specifically listed "photography" as a separate activity from video recording. Mr. Reibel and his accomplice had to agree to these terms to register, so yes, by definition, they did do something "wrong".

You would think that since Mr. Reibel has a history for getting into trouble at this conference that he would have been extra careful to know and abide by all of the rules. Especially if his intention was to be a "peaceful, non-disruptive" person. Just between you and me, I don't think that was his intention.

But even without this rule breaking, the fact remains that conferences like this are considered private events. A person does not have the right to attend and the organizers of the conference have the right to kick out anyone that they want to for any reason. If the organizers felt that Mr. Reibel was going to be a disruptive presence - as he has been in the past - they would be well within their rights to kick him out.

I don't think kicking him out was that far out of line either. The organizers put a lot of time and effort into getting the conference together and there are a lot of people who are attending because they want to hear what the people at the conference have to say. If you were the organizers or an attendee, would you want someone around who is there just to cause trouble or write nasty things about you later?

Study Watch : IL-6 is increased in the cerebellum of the autistic brain and alters neural cell adhesion, migration and synapse formation

2011-05-24T19:25:00.000-04:00

If you ever wondered how a dysregulated immune system could lead to the symptoms of autism, here is one possible answer for you. A new study has added to the evidence that interleukin 6, a chemical messenger produced by and used by the immune system, can be abnormally high in the brains of some people with autism. More importantly, it showed that it is possible that these high levels of IL-6 can modify the physical functioning of the brain.

Or at least it can alter the physical properties of bits of mouse brains in petri dishes. Replication of this exact study in human brains will have to wait until someone allows some researchers to play mad scientist with their brains...

Sorry, couldn't resist the bad joke. But seriously, this is an interesting study and if you are interested in the immune system and how it could impact the functioning of the brain, it is worth reading. The study is open access, so the entire text is freely available here.

IL-6 is increased in the cerebellum of the autistic brain and alters neural cell adhesion, migration and synapse formation.

Wei H, Zou H, Sheikh A, Malik M, Dobkin C, Brown T, Li X.

Background: Although the cellular mechanisms responsible for the pathogenesis of autism are not understood, a growing number of studies have suggested that localized inflammation of the central nervous system (CNS) may contribute to the development of autism. Recent evidence shows that IL-6 has a crucial role in the development and plasticity of CNS.

Methods: Immunohistochemistry studies were employed to detect the IL-6 expression in the cerebellum of study subjects. In vitro adenoviral gene delivery approach was used to over-express IL-6 in cultured cerebellar granule cells. Cell adhesion and migration assays, DiI labeling, TO-PRO-3 staining and Immunofluorescence were used to examine cell adhesion and migration, dendritic spine morphology, cell apoptosis and synaptic protein expression respectively.

Results: In this study, we found that IL-6 was significantly increased in the cerebellum of autistic subjects. We investigated how IL-6 affects neural cell development and function by transfecting cultured mouse cerebellar granule cells with an IL-6 viral expression vector. We demonstrated that IL-6 over-expression in granule cells caused impairments in granule cell adhesion and migration but had little effect on the formation of dendritic spines or granule cell apoptosis. However, IL-6 over-expression stimulated the formation of granule cell excitatory synapses, without affecting inhibitory synapses.

Conclusions: Our results provide further evidence that aberrant IL-6 may be associated with autism. In addition, our results suggest that the elevated IL-6 in the autistic brain could alter neural cell adhesion, migration and also cause an imbalance of excitatory and inhibitory circuits. Thus, increased IL-6 expression may be partially responsible for the pathogenesis of autism.

PMID: 21595886
DOI: 10.1186/1742-2094-8-52

Study Watch : Trends in the Prevalence of Developmental Disabilities in US Children, 1997–2008

2011-05-23T16:57:00.000-04:00

According to a new study due to be published in the June issue of Pediatrics, the number of children and teenagers diagnosed with a developmental disability has increased 17 percent since the late 1990s.

Trends in the Prevalence of Developmental Disabilities in US Children, 1997–2008

Objective: To fill gaps in crucial data needed for health and educational planning, we determined the prevalence of developmental disabilities in US children and in selected populations for a recent 12-year period.

Participants and Methods: We used data on children aged 3 to 17 years from the 1997–2008 National Health Interview Surveys, which are ongoing nationally representative samples of US households. Parent-reported diagnoses of the following were included: attention deficit hyperactivity disorder; intellectual disability; cerebral palsy; autism; seizures; stuttering or stammering; moderate to profound hearing loss; blindness; learning disorders; and/or other developmental delays.

Results: Boys had a higher prevalence overall and for a number of select disabilities compared with girls. Hispanic children had the lowest prevalence for a number of disabilities compared with non-Hispanic white and black children. Low income and public health insurance were associated with a higher prevalence of many disabilities. Prevalence of any developmental disability increased from 12.84% to 15.04% over 12 years. Autism, attention deficit hyperactivity disorder, and other developmental delays increased, whereas hearing loss showed a significant decline. These trends were found in all of the sociodemographic subgroups, except for autism in non-Hispanic black children.

Conclusions: Developmental disabilities are common and were reported in ~1 in 6 children in the United States in 2006–2008. The number of children with select developmental disabilities (autism, attention deficit hyperactivity disorder, and other developmental delays) has increased, requiring more health and education services. Additional study of the influence of risk-factor shifts, changes in acceptance, and benefits of early services is needed.

Study Watch : In Search of Cellular Immunophenotypes in the Blood of Children with Autism

2011-05-19T18:48:00.000-04:00

I ran across this study the other day and found it to be interesting. It is open access so the full text of the study is freely available. If you are interested in the possible relation between the immune system and autism, I suggest that you go read at least the discussion section of the paper, it will be worth your time.

The abstract for the study follows -

In search of cellular immunophenotypes in the blood of children with autism.
Ashwood P, Corbett BA, Kantor A, Schulman H, Van de Water J, Amaral DG.
Department of Medical Microbiology and Immunology, University of California Davis, Davis, California, United States of America

Background: Autism is a neurodevelopmental disorder characterized by impairments in social behavior, communication difficulties and the occurrence of repetitive or stereotyped behaviors. There has been substantial evidence for dysregulation of the immune system in autism.

Methods: We evaluated differences in the number and phenotype of circulating blood cells in young children with autism (n = 70) compared with age-matched controls (n = 35). Children with a confirmed diagnosis of autism (4-6 years of age) were further subdivided into low (IQ<68, n = 35) or high functioning (IQ≥68, n = 35) groups. Age- and gender-matched typically developing children constituted the control group. Six hundred and forty four primary and secondary variables, including cell counts and the abundance of cell surface antigens, were assessed using microvolume laser scanning cytometry.

Results: There were multiple differences in immune cell populations between the autism and control groups. The absolute number of B cells per volume of blood was over 20% higher for children with autism and the absolute number of NK cells was about 40% higher. Neither of these variables showed significant difference between the low and high functioning autism groups. While the absolute number of T cells was not different across groups, a number of cellular activation markers, including HLA-DR and CD26 on T cells, and CD38 on B cells, were significantly higher in the autism group compared to controls.

Conclusions: These results support previous findings that immune dysfunction may occur in some children with autism. Further evaluation of the nature of the dysfunction and how it may play a role in the etiology of autism or in facets of autism neuropathology and/or behavior are needed.

PMID: 21573236

Jabberwocky of the Day : Don't Comment Where I Said It

2011-05-19T10:00:00.001-04:00

So, if you were responding to something that I wrote, where would you leave the comment? Would you leave a comment on the post where I wrote it? Or would you pick another post on a related subject and leave it there? Or perhaps you should start reading all of the posts from that point forward and choose one that says something kinda like what you want to say.

It might just be me, but I think that online etiquette strongly suggests that you leave your comments on the post where the issues was raised.

Confused yet? Go read one of the latest posts on Countering... (look flowers!).

Apparently Minority wasn't allowed to comment on the post that contained the offending text. According to the Ms Wombles, that was an "interesting choice", an attempt "bury it where no one will likely see it", and wasn't an "attempt at honest communication".

Really?

I just had an exchange with two people on an older post from last year. Should I say that the commenters were attempting to "bury" their comments where only I can see them? Should I be hostile to them because they disagreed with with I said? Or maybe I should write a big long rant about how they are unfortunate people who have been "misled by the atrocious misinformation".

Of course the answer to all of these questions is a resounding no. These people were simply expressing their views about what I wrote in the place that I wrote it. And there is absolutely no need to treat other people badly simply because they don't happen to agree with me. Nor is there a need to imply that they are "wrong" and I am "right" or that they have "misinformation" while I have some sort of monopoly on the correct information.

In fact, I actually welcome comments from people who don't agree with me. I find that I can sometimes learn more from talking to people who disagree with me than with people who agree with me.

If I had to guess at Ms Wombles's intentions in writing what she did, I would say that she was attempting to intimidate Minority by pulling out a comment from an older thread and placing it front and center on her blog. I'm guessing that she is trying an old teaching trick - public shame.

So Kim, here is your little bit of shame in return.

Minority called you on your statement - in the appropriate place - and you responded with public ridicule because you didn't care for what they said. It really isn't nice to try to bully people into being quiet. Don't you think you should apologize for being such a meanie?

On a slightly more serious note, one of the comments on the shameful piece suggested that the recent attacks on the Ms Wombles have just been personal name-calling attacks that don't address the underlying issues. But I'm going to go out on a limb here and disagree.

(Well, I guess I can't disagree with the name-calling part since I did do a little bit of that - lets just call it "venting" instead, shall we?)

What I disagree with is that my quarrel with Ms Wombles isn't about the issues. This debate is certainly about an issue and the issue is character. The autism world is chalk full of people like Ms Wombles who spend their time attacking and demeaning anyone who dares disagree with them and I for one have had enough of them.

(Although, to be honest, there are far worse people out there than Ms Wombles. One of them actually challenged me to a "duel" because of something that I wrote here. Unfortunately, I didn't have a sword and they lived in France, so I had to decline.)

But I digress. As I was saying, the issue is character. The issue is whether it is acceptable to stand on the sidelines when one member of the community tries to bully another. As Ms Wombles so nicely put it, the issue is accountability after all.

I think it is long past time that the autism community holds its members accountable for their actions.

P.S. Kim, fourteen blogs, really? Where do you find the time?

Study Watch : Early Diagnoses of Autism Spectrum Disorders in Massachusetts Birth Cohorts, 2001–2005

2011-05-18T18:00:00.000-04:00

A new study in Pediatrics covers the the number of children receiving early intervention services for autism in Massachusetts. I am sure will be writing about this one in more depth in the near future but The main point here is that children receiving early intervention services for autism increased significantly for children born between 2001 and 2005.

One statistic that jumped out at me while I was skimming the study -

Among boys, early ASD diagnoses increased more than 70%, from 88 per 10,000 children for the 2001 birth cohort to 151 per 10,000 for the 2005 cohort.

That implies that the rate of autism in boys born in 2005 in Massachusetts is about 1.5%. I feel more aware already...

The abstract is below -

Early Diagnoses of Autism Spectrum Disorders in Massachusetts Birth Cohorts, 2001-2005.

Manning SE, Davin CA, Barfield WD, Kotelchuck M, Clements K, Diop H, Osbahr T, Smith LA.
Bureau of Family Health and Nutrition, Massachusetts Department of Public Health, Boston, Massachusetts;

Objective: We examined trends in autism spectrum disorder diagnoses by age 36 months (early diagnoses) and identified characteristics associated with early diagnoses.

Methods: Massachusetts birth certificate and early-intervention program data were linked to identify infants born between 2001 and 2005 who were enrolled in early intervention and receiving autism-related services before age 36 months (through December 31, 2008). Trends in early autism spectrum disorders were examined using Cochran-Armitage trend tests. X(2) Statistics were used to compare distributions of selected characteristics for children with and without autism spectrum disorders. Multivariate logistic regression analyses were conducted to identify independent predictors of early diagnoses.

Results: A total of 3013 children (77.5 per 10 000 study population births) were enrolled in early intervention for autism spectrum disorder by age 36 months. Autism spectrum disorder incidence increased from 56 per 10,000 infants among the 2001 birth cohort to 93 per 10,000 infants in 2005. Infants of mothers younger than 24 years of age, whose primary language was not English or who were foreign-born had lower odds of an early autism spectrum disorder diagnosis. Maternal age older than 30 years was associated with increased odds of an early autism spectrum disorder diagnosis. Odds of early autism spectrum disorders were 4.5 (95% confidence interval: 4.1-5.0) times higher for boys than girls.

Conclusions: Early autism spectrum disorder diagnoses are increasing in Massachusetts, reflecting the national trend observed among older children. Linkage of early-intervention program data with population-based vital statistics is valuable for monitoring autism spectrum disorder trends and planning developmental and educational service needs.

DOI : 10.1542/peds.2010-2943

Dr. Offit on the Definition of Autism

2011-05-17T22:56:00.000-04:00

In a recent Medscape article, Dr Paul Offit is quoted as putting forth the following idea on autism -

Dr. Offit said the study authors reach erroneous conclusions due to an erroneous definition of autism. A child with measles encephalopathy, he said, may have severe cognitive deficits that fall into the autism spectrum, but such symptoms themselves do not necessarily translate into a diagnosis of autism.

The good doctor is of course talking about the recent paper that purports to show that autism might be more common in children compensated by the the so-called vaccine court than in the general population. While I don't yet have much of an opinion on the paper, I do know that Dr. Offit's statement is just plain wrong.

First and foremost, a diagnosis of autism is based solely on the presence or absence of behaviors. If you have enough of the behaviors of autism then you have autism, if you don't then you don't. There is absolutely nothing in the definition that says anything about the underlying causes of the behaviors. It is factually inaccurate to say that "severe cognitive deficits that fall into the autism spectrum" aren't autism. Autism is autism - regardless of the cause.

Second, the authors in the paper actually used a validated autism screening test called the Social Communication Questionnaire (SCQ) with twenty-two of the children that they found. While the test cannot definitively show that a person has a diagnosis of autism, it is certainly not an "erroneous definition of autism". As a matter of fact, there are a quite a few research studies that have used the SCQ to help identify cases of autism

The problem is that Dr Offit has painted himself into a corner in regards to autism and vaccines. He regularly says things such as "This hypothesis has been tested thoroughly. The question has been asked and answered.", as he did in this story. He has written several books on the subject, all of which basically say the same thing - no relation between autism and vaccines.

I don't think he is now able to admit, either to himself or publicly, that he might have been wrong. Instead he has to come up with non-autistic forms of autism and spends his time "defending" his idea against anyone who questions it.

This is precisely the reason why there is no such thing as an "asked and answered" question in science. Once you have decided that you already have the answer you stop listening to what everybody else is saying.

Jabberwocky of the Day : The Qwibbler on Honor and Decency

2011-05-16T23:15:00.000-04:00

quibble, quibble, quibble

I think I might have mentioned this before but I really dislike hypocrisy. You either stand by what you say and demonstrate it through your actions - or you don't. There are many people who say that they are one thing but through their actions and words show that they are another. In my opinion, self-proclaim "community builder" and lady of science Kim Wombles is one of those people.

Consider her recent responses in the Bonnie "Sullivan" Offit incident. For those of you who aren't familiar with the story, here is the short version.

J.B. Handley accused the then anonymous "Sullivan" of secretly being Bonnie Offit, wife of the ever-so popular Paul Offit. Mr. Handley was so convinced that he was right (or that Sullivan would never out himself) that he makes two promises if he was wrong - never to publicly write about or utter the name Paul Offit again and to turn over the pauloffit.com domain to the Offits.

Much hilarity ensues from the right-wing of the autism world but the blogger known as Sullivan does not reveal his identity. A few months later, Sullivan is "outed" by former members of the autism hub blogs and Handley is called on his promises. Handley responds and says that he will make good on his promises.

Interestingly enough, a few days after he is "outed", Sullivan writes an apology to J.B. Handley saying that "I doubted that Mr. Handley would make good on his commitments, even going so far as to write that I didn’t think he had the integrity to do so. For those comments I offer a sincere apology. I was wrong." (Although he may have since retracted his apology).

All of that takes us up to about three weeks ago and since then people seemed to be losing interest in the affair. That is until Liz Ditz decided to stir up trouble and call J.B. Handley "forsworn" for not keeping his promises. Specifically she has a problem because the pauloffit.com domain name has not been transferred to the Offits and the then current content on the site was hostile to Paul Offit.

Here are a few facts that I can establish. As of May 9th, 2011 at 04:19:54 GMT, google has a cache of the pauloffit.com domain that just has a single picture of the character of Sullivan from the movie Monster's Inc on it. Liz Ditz published her piece on May 11th, 2011 at 4:45 PM EST (give or take). I cannot find any record of what the pauloffit.com site looked like at that point but from the screen shot's included in Ms. Ditz's post, it appears that the site consisted of old news stories about Paul Offit.

I am not going to judge whether putting those stories on the site was a violation of Handley's promise, assuming that he actually was the one who modified the page. There is the letter of the promise and then the spirit of it. I will say that if Mr Handley was the one who put up the page then one of these things might have been broken.

Moving along, in jumps St. Wombles into the fray with a piece entitled "Handley Backs Out of Agreement Regarding Offit Website". She says it is "despicable behavior from an often vile group of people" and that Handleys (alleged) behavior "should not be surprise to anyone", thus showing that she really does care about building community. I mean, nothing builds community and shows tolerance for difference of opinion like calling someone "despicable "or labeling an entire section of autism parents an "often vile group of people".

Ahem.

The thing that I also found interesting is that it doesn't appear that the lady of science ever attempted to contact J.B. Handley to see what he was doing in regards to transferring the domain. If you wanted to be strictly accurate, there was no evidence that J.B. Handley wasn't working to keep his promise. As anyone who has tried to transfer a domain name from one party to another could tell you, it can sometimes take a little while for the transfer to happen. Especially if the two parties to the transfer aren't on the best of terms as is clearly the case here.

So putting up a piece asserting that Handley backed out of his agreement without first actually establishing that that was indeed the case would be, what's the term, a little bit of "woo"?

Well, that brings us to earlier today when J.B. Handley explains on the Age of Autism site what the problem was. Basically he says that the initial transfer attempt was made on May 3rd - less than a week after the initial "outing". An e-mail was sent, presumably to Paul Offit, telling him that he could arrange to transfer the domain to be under his name. Handley asserts that he followed up with the person who was co-ordinating the transfer twice in the next week and a half.

Which brings us back to another point of fact. The pauloffit.com domain name was transferred on May 15th and Bonnie Offit is now listed as the contact on the domain. The content of the site is now favorable to Paul Offit. Presumably, the site is now in his hands.

At this point, Liz Ditz writes another post on the matter saying that "Mr. Handley has finally done the honorable thing." Sullivan wrote a response to the matter on Left Brain Right Brain giving his take on the matter, suggesting it was a "tempest in a teapot".

So, what do you think the Qwibbler does? I know a rational person would either just drop the matter or post a brief note that the transfer was done and leave it at that. But the Qwibbler, she doesn't strike me as the most rational person around.

Instead of letting the matter drop, she instead launches yet another attack again Handley saying that he "shows himself to be without honor, without decency, and without facts". She takes him to task for "breaking his promise" and for publicly talking about Offit while he was explaining the facts what was happening with the transfer. Because, you know, it is so easy to explain how you were attempting to communicate with someone without ever mentioning their name.

I guess she is right, technically Handley did break his promise while he was attempting to explain how he was keeping his promise. Way to stand up for evidence and community Qwibbler.

Dumbass.

Screening for Autism with the ASSQ

2011-05-16T07:00:00.000-04:00

I want to talk about the recent study that estimated that the prevalence of autism in South Korea was 2.6 percent because I think that is a very interesting result. But to set the state for that discussion, I think I first need to talk about screening tests for autism and the Autism Spectrum Screening Questionnaire (ASSQ) that was used in the study.

In general, the purpose of a screening test is separate out which individuals in a group of people are likely to have a condition from those that are not. In a perfect world, a screening test would only select those individuals that have a condition while not selecting those individuals who do not have a condition.

These concepts are formally called sensitivity and specificity. The sensitivity of a test tells you have good of a job the test does at finding the people who have the condition while the specificity tells you how good of a job the the test does at telling you which people don't have the condition.

In an ideal world, you would want a test to identify every person that has a condition (sensitivity of 100%) and exclude every person who doesn't (specificity of 100%). But, in the real world, tests are never that accurate and we have to make do with what we can get.

What normally happens is that the people who develop the screening test take the time to test it against a real population. They will give the screen to a (hopefully) large group of people and see what the scores look like for those that have the condition compared to those that don't. They will use that data to come up with what is known as a cut-off score. This score is just a magic number were the sensitivity and specificity of a test have been maximized.

Or in simple terms, the cut-off score is where the test picks up the higher number of people with the condition while excluding the most people without it. I think it is worth noting that even below the cut-off score it is still possible to have the condition.

A secondary point, one that is often overlooked, is that a screening test should filter out individuals who have other, similar conditions. This concept is tied up in the idea of sensitivity and specificity but is often not tested directly.

For example, if you look at the literature for the Autism Quotient (AQ), you will find that it has somewhat decent properties. However, if you you give the AQ to people with schizophrenia - a population that was not necessarily included in the initial validity studies - you would see that the AQ has a hard time telling whether a person has schizophrenia or autism. Hence, while the AQ might be decent at finding people with autism, it is also good at finding people with schizophrenia.

That might seem like a small point but if you have conditions where one is much more common than the others, it can make all of of the difference in the world in what your screening test picks up.

With that in mind, lets look at the Autism Spectrum Screening Questionnaire (ASSQ). I want to cover the properties of this test because it was the screening test used in the South Korea study.

The ASSQ is a 27 question test meant to detect "autistic disorders" in "high-functioning" children, particularly Asperger syndrome. Eleven of the questions have to do with social interactive, six cover communication problems, while 5 deal with restricted and repetitive behaviors. Each question has three possible answers - No, Somewhat, and Yes - and each question has a score from 0 to 2 - 0 indicates "normality", 1 is "some abnormality", and 2 is "definite abnormality". So the range of possible total scores is from 0 to 54.

If you want to see the actual questions on the test you can see them here, starting on page 11 in the document. I don't want to comment on the test questions, but really, are the questions "is old-fashioned or precocious" and "is regarded as an eccentric professor by the other children" indicative of autism? Anyways.

The real question, problems with the questions aside, is how good of a job that this screening test does. It is one thing to question the questions (pun intended) but it another to talk about how good the test is.

Unfortunately, the answer is somewhat mixed. The ASSQ is designated to be given to both parents and teachers and the results for the different groups are different.

If you look at the initial study for the screen (total of 109 people in the study), you would see that the a parental cut-off scope of 15 would yield a "true positive rate" of 76% and a "false positive rate" of 19%. A teacher cut-off of 11 would yield a "true positive rate" of 90% and a "false positive rate" of 42%.

Or, in other words, assuming that you had a group of 1,000 children and 1% of the them had autism (10 out of 1,000), the parent test with a cut-off of 15 would correctly identify 8 of the 10 while misidentifying 188. The teacher test would find 9 of the 10 while misidentifying 415.

Later studies in larger groups of children found somewhat different results. In one (4,408 children), the authors found that a combined parental and teacher cut-off score of 30 or a teacher score of 22 is best, saying that -

A valid cut-off for parents' single score could not been estimated. The clinicians are reminded that the ASSQ is a screening instrument, not a diagnosing instrument. The importance of using both parents' and teachers' ratings for screening in clinical settings is underlined.

While in another study (9,430 children), the authors suggested that a combined parent and teacher score of 17 or greater lead to a sensitivity of 0.91 and specificity of 0.86. Using the above assumptions, that would mean that the test would find 9 of the ten people with autism while saying that 139 had autism who didn't.

The take away here is that with the ASSQ, using somewhat typical cut-off scores, a "positive" screen on the test translates into roughly a 5% chance of actually having autism and a 10% chance of missing someone who actually does have autism. As the cut-off score gets lower, the change of missing someone with autism is decreased (better sensitivity) while the chance of including people who don't autism increases (worse sensitivity).

However, as I mentioned above, you have to watch out for other conditions that are also going to screen as "positive" on the test. One such condition that the ASSQ has trouble with is ADD/ADHD. This condition was included in the initial study plus a few other ones that I found.

In the initial study, the ADD group had a mean parental score of about 10 and a mean teacher score of about 12. The autism group had a mean of about 22 on the parent score and 25 on the teacher report. So if the respective cut-offs are placed high enough, the test should be able to distinguish between autism and ADD.

However, over results suggest that the difference between the two groups might not be as pronounced. One result suggested that only the social part of the ASSQ was different in autism and ADHD -

The ASSQ scores of the PDD group and the ADHD group were significantly higher than the control group. Furthermore, the PDD group scored higher than the ADHD group. Both groups also showed higher scores than the control group in all three domains, that is, restricted and repetitive behavior, social interaction, and communication problem. The PDD and the ADHD group showed no significant difference in the domains of communication problem, and restricted and repetitive behavior. The PDD group had a higher score than the ADHD group only in the social interaction domain.

Another result also showed that the mean scores of a modified ASSQ for children with ADHD was 24 while the PDD group was 31. Scaling those values back to the original test ranges would yield a mean of 16 and 21, respectively.

So an open question for me is how well the ASSQ can tell the difference between ADD/ADHD and autism, especially at lower cut-off scores. You will see why this is important next time.

References

Ehlers, S, C Gillberg, and L Wing. 1999. “A screening questionnaire for Asperger syndrome and other high-functioning autism spectrum disorders in school age children.” Journal of autism and developmental disorders 29:129-41. Pubmed PMID: 10382133

Mattila, Marja-Leena et al. 2009. “When does the Autism Spectrum Screening Questionnaire (ASSQ) predict autism spectrum disorders in primary school-aged children?” European child & adolescent psychiatry 18:499-509. Pubmed PMID: 19597920

Posserud, Maj-Britt, Astri J Lundervold, and Christopher Gillberg. 2009. “Validation of the autism spectrum screening questionnaire in a total population sample.” Journal of autism and developmental disorders 39:126-34. Pubmed PMID: 18592364

Fujibayashi, Hiromi, Shinji Kitayama, and Masafumi Matsuo. 2010. “Score of inattention subscale of ADHD rating scale-IV is significantly higher for AD/HD than PDD.” The Kobe journal of medical sciences 56:E12-7. Pubmed PMID: 21063141

Hattori, Junri et al. 2006. “Are pervasive developmental disorders and attention-deficit/hyperactivity disorder distinct disorders?” Brain & development 28:371-4. Pubmed PMID: 16504439

Study Watch : Autism Prevalence in Israel

2011-05-15T12:00:00.002-04:00

Via pubmed -

Time Trends in Reported Autism Spectrum Disorders in Israel, 1986-2005.

Reports indicate sharp increase in prevalence of autism spectrum disorders (ASD). We aimed to assess the time trend in prevalence of ASD in Israel and describe demographic characteristics of the registered cases. We reviewed the autism registry of the Israeli Ministry of Social Affairs which includes 4,709 cases and identified 4,138 cases born between the years 1986 and 2005. Registered cases were mainly males (84.4%) and Jewish (96.6%). Prevalence data indicated an increase from 1.2 per 1,000 in those born in 1986 to 3.6 per 1,000 in 2003. Greater increase was seen in males, reaching a peak of 5.7 per 1,000, compared to 1.2 per 1,000 in females. Increased ASD prevalence was observed among Israeli children born in 1986-2005.

It is interesting how the 1986 and 2003 numbers are close to what the numbers were thought to be in the US during both of those times. The standard disclaimers about changes in the definition of autism, how autism is measured, and the dangers of assuming that one number is representative of the entire population of autism apply.

And of course, if we are talking about current times, the rate of autism should be closer to 10 per 1,000, like it is now in the US.

References

Gal, Gilad, Lili Abiri, Abraham Reichenberg, Lidia Gabis, and Raz Gross. 2011. “Time Trends in Reported Autism Spectrum Disorders in Israel, 1986-2005.” Journal of autism and developmental disorders.
PMID : 21567257

Autism Jabberwocky Notes

2011-05-14T23:04:00.000-04:00

Just a few semi-random notes about the blog.

First, due to the recent Blogger issues, about four or five comments were lost. If you commented on something since Wednesday, you might want to go back and see if your comment is still there. If it isn't, feel free to re-add it. Or, if you don't have your original comment, feel free to drop me a line and I will re-add your comment as an anonymous user.

Which brings me to my second note. Due to some feedback that several people have given me, I have changed the comment settings on the site so that people can leave anonymous comments. I had initially prevented anonymous comments because of the spam that they brought, but since Blogger has added spam filtering I think it is safe to relax this. Hopefully people who had trouble commenting in the past will be able to comment now.

Third, I am going to try an experiment with a company called clickochet and while I am doing this you may see some ads on the the right side of the site. Let me just say that I am not trying to make any money from this site nor will I receive any money if anyone happens to click on the ads. The only thing that I will receive in return is a chance to run ads of my own - which I would use exclusively to promote this site. If this system works the way that it sounds like it should, I may keep it around. Otherwise, the ads will disappear. I suspect it is going to be the latter and the ads will quickly disappear,

If you are interested, Robert Cringely has a good write-up of how the system works. But again, I will not be making any money from these ads nor am I trying to turn a profit from this site. So click if you want, don't if you don't. Or if you think I am being silly, tell me that too.

Finally, I think I am going to slightly change what I am posting here. I want to write more than I do but, frankly, I don't have the time to devote to it right now. Who knew that three children - with or without autism - plus a full-time job and the rest of life could take up so much time. So what I think I am going to do is post more frequent shorter posts, such as the one earlier today on asthma, while still doing the longer ones as I have the time (I have three or so in the queue that I am working on right now).

Hopefully this system will work so there aren't stretches of weeks and weeks without anything appearing here. Because there is a lot of interesting information about autism that I come across everyday that I don't have the time to go into detail about. If you don't think that the newer style is worthwhile, please let me know.

Anyways, thanks for reading and I hope you enjoy where Jabberwocky is headed.

Asthma Becoming More Common

2011-05-14T09:35:00.000-04:00

According to a new report from the CDC, asthma became much more common in the US between 2001 and 2009 -

During 2001--2009, the proportion of persons of all ages with asthma in the United States increased significantly (12.3%), from 7.3% (20.3 million persons) to 8.2% (24.6 million persons). A rising trend in asthma prevalence was observed across all demographic groups studied (Figure 1). Prevalence increased significantly during 2001--2009 for children (8.7% to 9.6%), adults (6.9% to 7.7%), males (6.3% to 7.1%), females (8.3% to 9.2%), whites (7.2% to 7.8%), blacks (8.4% to 10.8%), and Hispanics (5.8% to 6.4%).

...

In 2009, asthma prevalence was greater among children than adults (9.6% versus 7.7%), and was especially high among boys (11.3%) and non-Hispanic black children (17.0%). Prevalence among adults was greatest for women (9.7%) and adults who were poor (10.6%) (Table 1).

Of course, the reason the for the increase is unclear (I broke the text below into paragraphs to make it more readable) -

The prevalence and number of persons with asthma have increased since 2001, and demographic differences among population subgroups persist despite improvements in outdoor air quality and decreases in cigarette smoking and secondhand smoke exposure (11--13). Although probable causes for the increase in asthma are unclear, CDC's top priority is getting people to manage their asthma better.

Asthma has been more prevalent among children than adults, women than men, and blacks than whites since 2001. Similar to findings in previous studies (3--6), in 2009, asthma was more prevalent among children, women, non-Hispanic blacks, the poor, and in the Northeast and Midwest.

The cause of this variation remains unclear and might be the result of characteristics associated with asthma development and disease duration that were not examined in this study, including genetic predisposition, history of atopy (a genetic tendency to develop an allergic reaction), health risk factors (e.g., smoking, obesity), earlier diagnosis, socioeconomic status (e.g., education or occupation), and exposure to environmental allergens or irritants (e.g., mold, tobacco smoke, secondhand smoke exposure, pet dander, outdoor air pollution, and any upper respiratory infection, such as influenza or common cold) (1--3,5,6). In particular, obesity and exposure to tobacco smoke each have been associated with increased asthma severity (14,15).

More detailed analytic investigation of these risk factors might help characterize subpopulations and identify those in greatest need of targeted prevention efforts.

I think I might actually fall over if an organization like the CDC ever identified a definitive "cause" of something like asthma. It is slightly bothersome when you have an (estimated) 4 million more people effected by a condition like asthma over an eight year period and the best the CDC can come up with is a "our top priority is getting people to manage their asthma better". Don't get me wrong, it is critically important to teach people how to manage their asthma - their lives just might depend on it - but don't you think the top priority should be figuring out why more people are developing asthma?

OK, that really isn't really a fair criticism because conditions like asthma are complex and may have many different possible causes. But when you have a group of condition that keep getting more common - such as asthma, childhood obesity, diabetes, ADD/ADHD, and autism - and your explanation and response to each is the almost the same, then maybe it is time to try a new approach.

BMJ Editor on Big Pharma

2011-05-13T19:37:00.000-04:00

Over at Nature's newsblog there is a short article quoting Fiona Godlee, editor in chief of the BMJ group, on the conflicts of interest in the publishing industry. I don't really want to just copy the whole thing, so here are some of the interesting quotes -

Fiona Godlee, editor in chief of the BMJ group, told a select committee of the UK Parliament that “We have to acknowledge that the publishing industry has a number of different revenue streams, one of which is the pharmaceutical industry.”

...

“It has been said that journals are the marking arm of the pharma industry and that is not untrue; to a large extent that is true,” Godlee told the Science and Technology Select Committee.

The BMJ is, of course, the same journal that had a little bit of a "whoops" regarding their recent take down of the de-doctored Wakefield. Since the first step to recovery is admitting that you have a problem, I think it is good that an editor-in-chief of a large organization like the BMJ is openly talking about the conflicts of interest in the journal industry.

Go read the rest of the article here.

Jabberwocky of the Day : Reality Distortion

2011-05-10T08:00:00.000-04:00

There are many other interesting things happening right now in the autism world that I should be writing about instead of this. Things that are much more relevant such as the recent Korean prevalence study. But, this is just so utterly ridiculous that I can't let it past.

First the background. Apparently there is going to be an announcement later this morning about an investigation into autism and vaccines. What the announcement is supposed to say is that autism is more than three times more common among the group of children compensated by the so-called vaccine court than it is the general population. I am going to wait to see what the announcement actually says and what the data shows before jumping to any conclusions.

But, Left Brain Right Brain already has their reality distortion field in full-effect claiming that what is supposed to be a report in a "New York law school journal" is a "legal battle" -

A news conference today will confirm that autism/anti-vaccine groups have lost the scientific battle for the idea that vaccines cause autism as they turn to the legal battle instead.

Never mind the fact that the recent US Supreme Court decision effectively closed down all legal avenues. Even if the claims were exactly as stated there is no legal way to make the challenge. So I don't know what possible "legal battle" could be mounted.

But then it gets even stranger when LBRB claims that the so-called vaccine court would never distort the relationship between vaccines and autism and that autism isn't defined by its behaviors -

The report – at least in this news story – doesn’t seem to mention how many children were compensated for having autism. As we all kow ‘autism like symptoms’ or ‘symptoms and behavior consistent with autism.’ might be just that – but they are not autism. If they were I’m sure the court would’ve reported it.

Both of the claims are just straight up wrong.

There have been at least 3 cases where the vaccine court compensated children for their autism and went out of their way to avoid saying what they were compensating for was autism. Perhaps the most notable was the case of Bailey Banks where the court basically invented a new medical condition, non-autistic pdd-nos, to avoid making the link. From the decision -

These facts likewise satisfy the Althen test set forth above. Petitioner’s theory of PDD caused by vaccine-related ADEM causally connects the vaccination and the ultimate injury, and does so by explaining a logical sequence of cause and effect showing that the vaccination was the ultimate reason for the injury.

PDD is always autism yet the title of the ruling is "Non-autistic developmental delay". If that isn't an attempt to avoid calling something autism, I don't know what it is.

Then there is the idea that "behavior consistent with autism" isn't autism. Yet autism is defined solely on the basis of behaviors. If you have the enough of the behaviors of autism then, BY DEFINITION, you have autism. If you don't have enough, then you don't have it. There is absolutely nothing in the clinical definition of autism that makes cases whether autism was caused by genetics, environment, vaccines, or little green men from mars.

I have to wonder how LBRB can champion the the idea that there is no "autism epidemic" because "autistic traits" are present, yet unrecognized, in the general population and then turn around and claim this set of "autistic traits" aren't autism because a vaccine might have caused them.

The cognitive dissonance that they experience over there must be stunning.

Jabberwocky of the Day : Fun With Words Edition

2011-05-08T18:44:00.000-04:00

Flickr photo by madmolecule

From the "I want to be like former President Clinton" department, we have Left Brain/Right Brain bringing us the fun with word edition of Jabberwocky of the Day.

First up we have the we have to ask ourselves, what does the word "escalating" mean to you? LBRB presents a new paper on autism in the elderly and using is to push the idea that there is no "autism epidemic". They say (in part) -

You see, nobody working the field of geriatric psychology has any doubt that there is a large population of autistic people within the geriatric population

Lets ignore the use of the word "nobody" because one review published in one journal can't possibly have polled the entire field of geriatric psychology and established that not a single person in the field doubts the existence of a "large population of autistic people". The entire statement is absurd on its face, even by LBRB standards.

Nor is there any support for the idea that there is a "large population" of adults with autism. What LBRB quotes to support their statement is -

At present, one of the major challenges is that the majority of the currently older individuals with ASD has not received a formal diagnosis of ASD, and this would be diffcult to establish using the currently recommended diagnostic assessments, because for many of them, neurodevelopmental history would be hard to obtain.

The idea is that most of the older individuals with autism don't have a formal diagnosis, not that there is a large group of adults without a diagnosis. These are two different concepts.

What I think the point is this follow up statement -

As also published recently, it is becoming clearer that there is in fact, no ‘autism epidemic’ and that, in point of fact, research shows...

They are referring to another study, but we will come back to this study in a minute. Focus on the idea that there is "no autism epidemic". Now go read the results section of abstract of the first study -

With escalating numbers of ASD individuals with disability reaching old age, provision of care is the paramount issue that is only beginning to be addressed in a few European communities and in the USA. How ageing affects cognition in such individuals as they reach an age no longer consistent with parental care is unknown, lacking any published evidence, and there is a clear need to design cognitive and behavioural assessment tools appropriate to ageing in ASD individuals with disability, as was the case with respect to dementia as a whole. Although there is a growing body of evidence on pathological, imaging, neuropharmacological and other key brain abnormalities in ASD, these are, to date, confined to children and young (only rarely to middle aged) adults.

I read this paragraph to mean that there in an increasing number of elderly people with autism and that there is currently a complete lack of understanding of what is going to be needed to deal with the problem.

But see the first sentence? Let me highlight the interesting part "With escalating numbers of ASD individuals with disability reaching old age". You wouldn't typically see the word "escalating" used to a condition that is stable. Last time I checked, the word "escalating" implies that something is increasing.

But even if you took a more literal reading of the sentence and assumed that the authors meant that more individuals are "reaching" (think surviving) to older age that still doesn't tell us that there are a large number of them already there. If anything, more people with autism surviving to older age has to mean that the number is increasing.

So no matter how you read it, if a condition like autism is "escalating" that says that there are more cases - not a stable level of them. And if there are more cases, doesn't that mean that the increase of cases might be approaching an epidemic?

But no, according to LBRB, the word "escalating" now means a stable level of adults with autism, therefore "vaccines haven’t caused an epidemic of autism because an epidemic of autism does not in fact exist."

Wait, were did the rate of autism in children and any data on vaccines come from?

Lets go back to that other study showing a stable level of autism in adults. I haven't had a chance to get the study text yet but it looks like the same data that was put out over a year and a half ago. I talked about it quite extensively back then and the long and short of it is that the result is somewhat flawed. The data shows 19 adults who might have autism out of 7,461 (0.25 percent) and extrapolates that one percent of the population - a four fold increase. Yet when you look carefully at how the extrapolation was done, I am not quite sure that it is valid. I am sure that I will be writing about it in the future after I read the "new" research.

The funny part here is that LBRB presents this as some sort of new data. I guess if you stare at the same thing over and over again, everything old becomes new again and the ~~old~~ new becomes "clearer".

Moving along, LBRB attempts to split hairs in the war against the evil "anti-vaccine" fringe. Consider the following two statements -

vaccines can cause encephalopathy that causes autism

and

The government has never compensated, nor has it ever been ordered to compensate, any case based on a determination that autism was actually caused by vaccines. We have compensated cases in which children exhibited an encephalopathy, or general brain disease. Encephalopathy may be accompanied by a medical progression of an array of symptoms including autistic behavior, autism, or seizures.

Some children who have been compensated for vaccine injuries may have shown signs of autism before the decision to compensate, or may ultimately end up with autism or autistic symptoms, but we do not track cases on this basis.

To me, these statements are more or less equivalent. The second may be much more nuanced and full of weasel words, but the theme is the same -

1. A vaccine caused encephalopathy (brain damage).
2. Encephalopathy is "accompanied by" autism.

In this context, "accompanied" has a very specific meaning, mainly -

Be present or occur at the same time as (something else).
- the illness is often accompanied by nausea

Most rational people would conclude that if brain damage is "accompanied by" a neurological condition like autism that there might just be a connection there. I mean, after all, how much of a leap is it if there is damage to the brain and a condition that can be caused by abnormalities in the brain that there just might be a connection?

It isn't like you would say that one condition is "accompanied by" a second condition to mean that the second condition just appeared out of the blue and has no relation to the first.

Yet LBRB insists that that the "can cause" and "may be accompanied by" are quite different -

Well, no, no its not. Lets look closley at the ‘offending’ paragraph:

We have compensated cases in which children exhibited an encephalopathy, or general brain disease. Encephalopathy may be accompanied by a medical progression of an array of symptoms including autistic behavior, autism, or seizures.

Quite clearly Bowman is saying that Encephalopathy may be accompanied by etc. A fact he goes on to clarify further in his next paragraph. How much clearer does it need to be?

Ginger Taylor and David Kirby really have got to stop misrepresenting people in this way. It does their beliefs no justice.

So remember, the next time that you have the flu "accompanied by" nausea, there is no relation between the flu and the nausea. The flu appeared and then out of the blue the nausea appeared.

Yeah, right.

As for misrepresenting people, I couldn't have said it better. LBRB's continued instance on playing word games does their cause no good. It is hard to take anyone seriously who tries to redefine the English language to make their case.

Although, former President Clinton would be proud.

Community, What's a Community?

2011-04-28T17:02:00.000-04:00

Surgeon Generals Warning : Reading this rant might be harmful to your health. If you are easily upset, really picky about negativity, or suffer from high blood pressure you may not want to read this.

Let me say up front that this post is me being just ever so-slightly petty. If you don't want to read what I write when I am at my, ahem, "best", I suggest that you skip right over the body of the post and just read the last little bit, my single serious point is there. Or better yet, don't read any of it and we can pretend that this post never happened.

Still here and ready for a good rant?

OK, lets talk about ideas and being right or wrong.

I am willing to keep an open mind on just about any subject and I always try to stay open to the idea that I could be wrong. I try very hard to be consistent in what I say although, to be honest, you will sometimes hear logic sobbing softly in the corner as I tie it up in knots trying to remain consistent with myself.

I also tend to advocate strongly for what I think is the right idea. Sometime I do a good job of it and other times, well, lets just say the result aren't pretty.

Nobody's perfect, right?

Having said that, nothing gets under my skin like hypocrisy. I don't particularly care what you think is true as long as you stick to your beliefs. Nor do I really care if you decide to change what you believe in. I am not one of those people who think that you can never change your mind.

But what really drives me nuts is when someone pays lip service to an idea but then their actions show that they don't truly believe it. It also drives me nuts when someone gets up on their high horse only to resort to mudslinging.

To use a very bad example, it is like when someone claims to be a good christian and then turns around and is the most intolerant person. Its like saying I treat everyone with love and respect, except him, he's a homosexual and that's a sin.

Wow, how many bad stereotypes did I use just then? If the PC police are out in force today I might be in trouble, but hopefully you got the point. (And no slight to christians intended)

Your statements and actions need to agree with each other.

Anyway, all of this is a (slightly convoluted) prelude to put what follows. For the context of what I am about to talk about (and my own less than ideal performance in this matter), see the comments here and here. It might take you a while to read through the first set of comments, so I will wait.

Done reading yet?

OK, I am posting my final response to Kim's comment here because I think it is important to understand just why the autism community is divided and how nasty the divide can be. That and Kim promised to delete my comment there (yeah, I got banned, again).

The community is divided because we all believe different things about autism. I personally believe that is a profound medical disorder that needs to be cured. Others believe that it is a natural part of who a person is. And then there are the sixty other view points as well.

But we all want the same thing which is a better life for our loved ones who have autism. And sometimes we get so invested in our own positions that we forget this.

Since I am currently quite invested in my position (and decently annoyed), I am going to break one of my own rules and make my some personal comments against someone who I feel is hypocritical. I really don't like to do this, but every once and while you just have to rant.

(Wait, doesn't that make me a hypocrite too? Note to self, write angry rant about angry rant, decry self as double hypocrite.)

So here you go, me at my best. Kwombles, this is for you.

~~~~

Aw shucks.

The problem, Kim, is the difference between actions and words. You write that you believe something but then your follow up comments show that you don't.

You say "I'm all inclusive" but then follow it with something like "I can't believe those dumbasses think that GI problems could be related to autism", that you aren't interested in "speculation". You say you prefer "I don't knows" and then immediately label everything that falls into the grey area where knowledge is lacking as "woo".

You say you welcome opinions and then immediately launch personal attacks on people who have different opinions. I think that the PBS did a good job with their Autism Now series in spite of the fact that no person with autism was directly interviewed, you say that means I lack empathy for people with autism.

You say that you keep an open mind and then reject everything that isn't "proven" via science. Science isn't black or white and it isn't about absolutes. That goes double for soft sciences like medicine and quadruple for even softer sciences like psychology. Science is about seeking knowledge, not about wielding isolated facts like a club to silence those you disagree with. It certainly isn't about a question being "asked and answered".

I think my favorite thing was how you like to promote this image of having an open discussion about ideas and then immediately turn around and label everyone who disagrees with you a dumbass.

~~~

If you made it this far, let me ask you two questions.

Does the part about hypocrisy make sense now? It seemed to be a little bit of a stretch when I was writing this so I wasn't sure if it made sense.

And more importantly, do you think this post would come across a little less harsh if I posted some pictures of flowers in the middle of it?

No? Ok, I didn't think that would come across too well for me.

Ahem, now that I am done being an ass and feel ~~better~~ worse, lets get to the serious point.

Serious voice

The above sorts of exchanges are all too common in the autism "community". Everyone is guilty of doing it to a greater or lesser degree. I know that even though I try and avoid it that I sometimes get roped into it as I did above.

It is very hard to read something that is the complete opposite of what you believe and to not comment angrily. When it is a loved one or yourself that you are arguing for that gets even harder and accusations start flying at the drop of the hat.

I think the thing that set this all off was the use of one word - "offended". Kim was "offended" that the PBS show didn't include interviews of people with autism. I thought the show was excellent as it was and assumed that Kim was attacking it simply because she didn't like what the show had to say about autism (p.s. for some of us, its called the reality of autism).

But, after listening to some of her reasons, I have to conceed that having an interview with a moderate functioning person with autism would have been a good addition. However, that lack certainly didn't make the show "offensive".

Wait, who am I kidding. I still think that she called it "offensive" because she didn't like the side of autism that it showed.

The show was a ground breaking look at what life can be like when your children has autism. It reflected a lot of what our family life is like - the challenges, the worries, the "other" medical issues, the fighting for appropriate supports, and the stress for the future.

Autism isn't just about the people who have autism - it changes the lives of EVERYONE in the in the family - and these other people have a right to have their own opinion of it without being told that it is somehow wrong or "offensive". We should be able to talk about how autism can truly fucking suck some of the time without people jumping in and telling us we shouldn't say bad things about autism.

Maybe if the general public had a better picture of what autism can do to people who have autism as well as their families we would be able to get some better help. Instead we have the autism community tearing itself apart with some of us saying "wow, this sucks" while the other side saying "shhh, you can't say anything negative about autism because that would give the wrong impression". Its no wonder we can't get along.

P.C. Editors Note : Saying that autism sucks is in no way, shape, or form implying that people who have autism are defective, broken, non-human, or any of the other typical BS that gets assumed. A persons is a person, not a disability. Nor is this a denial that people with autism have a right to speak on their behalf, either. Nor is it saying that I don't love or accept my children for who they are.

Oops, a little bit of the rant managed to find its way into the serious section.

So if you go back to the "offensive" word you might see were the problem came in. I didn't realize it myself until I stopped to think about my own reaction. Show = Offensive, My Life =~ Show, My Life =~ Offensive.

I am (mostly) sure that she didnt mean to imply that but it is an example of how easy it is to take offense at something without realizing why. I still think she is way off base with the idea that the PBS show was "offensive" (did I mention I am stubborn too?) but perhaps I should have approached the subject differently.

You live, you learn, and you move on.

So, consider this a plea for civility from someone who is equally guilty of not always being civil.

Except you Qwibbler, you can bugger off.