What's Wrong With Diagnosing Yourself with Autism?

Self-diagnosis is the process of identifying a medical condition in oneself.  You look at signs and symptoms that you have and try to match them to a medical condition.  This process is prone to error under the best circumstances and potentially dangerous under worse ones.

In the autism community, there are some number of adults who have self-diagnosed themselves with a form autism.  They may refer to it using other phrasing, such as ASAN's "self-identif[ied] with the Autistic community", but it is really the same thing.  These people have looked at themselves and decided that, based on their behaviors, they have some form of autism.

The people will typically say that the self-diagnosis was a wonderful thing for them or how it changed their life.  And while, at first glance, it might seem like there is nothing wrong with this practice, it has been my experience that self-diagnosis is almost never a good thing for anyone involved.

In my opinion, if a person thinks that there is something wrong with them, they should not try and guess what it is themselves.  They should instead go talk with an unbiased professional who will be able be able to help them.  This is true for strictly physical problems and is doubly true for profound mental problems such as autism.

There are many reasons for this as a general statement, but here are some specific ones for autism.

1. Everybody has strengths and weaknesses.  Everybody has things that they are good at and other things that they struggle with - this is "normal" and expected.  So just because you have problems or struggle in some areas does not mean that you have a mental disorder.  Mental disorders are defined by their extreme behaviors - behaviors that are so far out of the realm of what is typically seen that they cause problems.

Autism is (currently) defined by profound impairments in three areas - communication, socialization, and repetitive/restricted interests and activities - that must appear in early childhood and that must act together to impair every day life.

For example, the ability to focus on a subject and become extremely knowledgeable is well within what is considered "normal".  You don't have autism (or a "trait" of autism) simply because you find a subject very interesting and can spend a lot of time learning about it.  It is only when the ability to focus turns into a constant fixation or obsession that you go from what is "normal" to something that isn't.

So, to be perfectly blunt, just because you are don't relate well to others and have some strong interests does not mean you have autism.  Along the same lines, just because a person is a "geek" or in some other technical profession doesn't mean that they are automatically on the spectrum somewhere.

It means that you have areas that you need to work on and improve in, just like everybody else.

2. It is hard enough for a "typical" person to objectively and accurately analyze and understand their own behaviors.  If you do actually have a mental disorder then that means that your ability to understand and objectively analyze your own behaviors will likely be impaired.  This is true not just in autism but most of the other major mental disorders such as ADD, schizophrenia, depression, and addiction, to name just a few.

To put that another way, if you are relying on your own opinions and observations about your behaviors and you do actually have a disorder then you will most likely be getting it wrong.

3. There are very few "objective" measures of autism and all of the reliable ones require a trained professional.  But there are some rather crappy ones that are promoted online by various that will likely give you the wrong idea.

Probably the most well know and most abused of these is the Autism Quotient.  The AQ is a meant to be used as a screening test in an appropriate setting with appropriate supports in place.  It is not meant as a test to see if you have autism.  Even if you get an extremely high score that will only raise your chances of having autism to like 1 in 10.  And the AQ cannot tell the difference between autism and other conditions such as schizophrenia.

I cannot count the number of times I have run across people who have decided that they have autism based on their own observations of their behaviors and their score on the AQ.  Some of these people might well have a form of autism but the numbers suggest that most would not.

4. Even if you do have some profound problems in the three core areas of autism, that does not mean that you have autism.  There are several other conditions, such as ADD,  schizophrenia and OCD, that overlap with autism and it can be difficult to tell them apart.  You have to consider the complete picture of all of the behaviors that a person has, when those behaviors appeared, as well as what behaviors are missing to be able to tell them apart.

This is why an objective, unbiased professional is critical to the process.  They should know not only what the different conditions look like and what the signs of each are but also how to tell them apart.  They will know the little things like an AQ isn't a diagnosis and that a high score could mean schizophrenia or autism.

Accurately determining what (if any) condition you have is absolutely critical for the next point.

5. You have to make sure that any treatments are appropriate for your condition.  If you taken it upon yourself to decide that you have a condition then you may use treatments that are completely inappropriate for your actual condition.  More importantly, if you have decided on the wrong condition, you could miss out on treatments that could really make a difference in your life.

If you have decided that you have a form of autism but also decided that you don't need any form of treatment, then I would ask why you think you have a disorder in the first place.  The point of a medical label is to identify a condition so that you know what you are dealing with and how to treat it.  A medical label is not an identity.

(And no, "the rest of the world needs to just accept who I am" is not a treatment.  Not that acceptance itself is bad or unneeded, but it will rarely be enough to give you back the ability to function in the world.  More on this in a bit.)

6. You have to ask yourself what a self-diagnosis of autism will actually do for you.  While at first glance it might seem like the label can help you make sense of your life, it really can't.  The autism label might provide a plausible sounding rationale for your behaviors but the label alone doesn't necessarily help you deal with or improve those behaviors.  For that you need an objective person who will be able to consider all aspects of the behaviors and help you arrive at an appropriate strategy.

And if you are just looking to use the label of autism as an ongoing justification for your actions and are refusing to change yourself in any way (i.e. you are in the "autism is just a difference camp"), then I have two little words for you - grow up.  You are supposed to change and adapt your behaviors in response to your environment, even when you would rather not and it is uncomfortable to do so.  Autism is not an excuse for behaving badly.

Just to be perfectly clear here, if you are disabled by a mental disorder then you are entitled to the same rights that everybody else is.  You are not less of a person simply because you have a disability.  You have the right to expect that others will still treat you as an equal and you have the right to expect that  accommodations will be made to help you function better.

But if you have the ability to change and improve yourself but choose not to because you think that you are defined by a medical label then you really do have a problem.  And the problem isn't that you have autism.

Which leads to the last and very unfortunate problem.

7. There are certainly many people in the world who do have autism, who struggle because of it, and who are able to speak about it publicly.  These people provide an invaluable service because they enable the rest of us to better understand what it is like to have autism.  I applaud their courage to speak out about their condition and am extremely grateful for the insight they provide.

But then there are a number of people who have self-diagnosed with autism and then rush to tell the word "what it is like" to have autism.  These people often spread inaccurate information about what autism is and what effects it can have on a person.  These people cause direct and lasting harm to people who actually do struggle with autism by giving a false impression of what autism is and by drawing attention away from people who are actually disabled by their autism and truly do need the help.

These people often encourage other people to self-diagnosis or "look into it" for themselves.  They are often the people who use autism as a justification for their actions and claim that it is the rest of the world who have a problem and not them.  These people certainly do have issues but, in my opinion, that problem is rarely autism.

So, for these reasons and quite a few others, if you think you have a serious mental disorder such as autism, please don't try and diagnose yourself.  Instead go get the help you need.  There is no shame is trying to get help when you need it and you have everything to lose and very little to gain from diagnosing yourself.

P.S. The practice of diagnosis shopping, i.e. going to multiple professionals until you find one that agrees with your self-diagnosis, is almost as bad as diagnosing yourself in the first place.  There is certainly a time when a second (or third or fourth) opinion is certainly a good idea but there is a clear difference between trying to find a professional who can help and going to multiple professional until you find one that agrees with you.

Temple Grandin: Autism Is Not My Identity

Temple Grandin on autism as an identity -

I am a scientist and college professor first and a person with autism second. Autism is an important part of me, and I do not want to change, but my career is my identity, not autism.

I get concerned when young kids come up to me and all they want to talk about is “their autism.” I would rather talk about their interest in animals, science, or history. They are becoming their label.

Go read the full article, there are many good points in it.

The Sum of All Genetics

A interesting paper was published a few days back on the genetics of autism that suggested that the genetic component of autism is made up of not one or two large mutations but rather many small mutations that add together to increase risk.

As the paper put it -

For simplex families, who have only a single affected individual in multiple generations, approximately 40% of liability traces to additive effects whereas this narrow-sense heritability exceeds 60% for ASD individuals from multiplex families.

Or to put that another way, you can only blame genetic mutations for roughly half the risk of autism.  This idea isn't necessarily new but it is the first time that I have seen it presented so openly in a paper with the names of so many prominent autism researchers attached.

I'm not going to dig into the methods used in the paper because, quite frankly, I have no real understanding of the methods used to arrive at the result and so I don't have an opinion on whether the results fit the data.  If you want a good summary of the results in the paper, I suggest you read the write up over at Questioning Answers.

What I am going to point out is the excellent background section at the start of the paper.  The paper is open access, so I if you are interested in the genetic of autism I suggest you read at least that section.  I also wanted to point out two little bits from this section -

Beliefs about the genetic architecture of autism spectrum disorders (ASD) have changed dramatically over the past few decades. Early twin studies produced heritability estimates approaching 90% and, while no specific risk loci were known at the time, it was believed that liability was conferred by a handful of genes of large effect. Later, data on the distribution of ASD within families, together with results from linkage analyses, were interpreted to mean that liability arose from many genes. Recent work has definitively demonstrated the substantial contribution of de novo variation. Indeed multiple studies of rare single nucleotide and copy number variants (CNVs) have suggested that 15% or more of liability traces to de novo mutation, effects that are genetic but not inherited.

and

[D]espite a near-consensus that common and transmitted variation must confer liability, multiple genome-wide association studies have so far not revealed replicable common polymorphisms associated with ASD, and studies of rare structural and sequence mutations have largely failed to account for the anticipated risk associated with transmitted variation.

I may be reading too much into these statements, but it almost seems like the paper is admitting that the assumption that autism is primarily an inherited genetic disorder is flawed.  Of course, the data in the paper tries to save the idea by suggesting that the genetic risk for autism comes from tens, hundreds, or thousands of small inherited mutations which, when acting together, give a greater risk for autism.

And who knows, that idea may actually be true.  Maybe the genetic side of autism does in fact come from many small mutations acting together.  But here is the thing about science - it is all about the evidence.  An estimate from applying some fancy algorithm to an already over analyzed genetic data set doesn't tell us anything new.

Despite a "near-consensus" that there have to be common genetic mutations that are passed from parent to child that increase the risk of autism, the fact is that after years upon years of looking no one has found them.  All that has been found are some relatively rare inherited conditions and a bunch of non-inherited mutations that, when taken together, make up the minority of cases of autism.

In fact, I would say that the lack of findings despite the efforts to date make a pretty convincing case that such common mutations do not exist, the evidence of twin and other studies notwithstanding.  Maybe it is time to start looking in more promising areas such as epigenetics or the biology of autism?

References

Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Lese Martin C, Martin DM, Morrow EM, Walsh CA, Melhem NM, Chaste P, Sutcliffe JS, State MW, Cook EH Jr, Roeder K, Devlin B. Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism. 2012 Oct 15;3(1):9. [Epub ahead of print] PubMed PMID: 23067556 DOI : 10.1186/2040-2392-3-9

Genetics, Twins, and Autism

I think I may have mentioned this once or twice in the past but, at the risk of repeating myself, let me say it again.  I am somewhat skeptical about the idea that autism is a primarily genetic disorder consisting of hundreds of extremely rare mutations.

I understand the evidence that suggests that autism is "genetic".  I understand that twin studies suggest that something about being a twin greatly increases the risk of autism and that the risks are greater for identical than fraternal twins.  But what I don't understand is why the presumption is that genetics is the cause of the greater risk.  I don't understand why the other things that twins have in common - such as a shared prenatal and early childhood environments - are often ignored or overlooked.

For example, the existing evidence suggests that a fraternal twin has a greater risk of autism if their twin has autism than other, non-twin siblings do.  Fraternal twins are no closer genetically than other other siblings so the increased risk over non-twin siblings has to come from shared environmental factors.

And then there is the little fact that the genetics of even identical twins isn't as straight forward as you might think.  Yes identical twins start off with identical genetic material at the moment of conception, but after that point things can get a little murky.

As I think I have mentioned in the past, my identical twin daughters who both have autism each have their own set distinct set of mutations.  Under the standard assumption that identical twins are always genetically identical that shouldn't happen.  But clearly someone forgot to tell them that they shouldn't be like that.

 Just because identical twins start out with the same genetic code when they split from each other a few days after conception doesn't mean they will still be identical when they are born.  But if my little anecdote doesn't make you say hmm, then consider the following abstract of a study that was just published -

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.

Although discordant phenotypes in monozygotic twins with developmental disorder are not an exception, underlying genetic discordance is rarely reported. Here, we report on the clinical and cytogenetic details of 4-year-old female monozygotic twins with discordant phenotypes. Twin 1 exhibited global developmental delay, overweight and hyperactivity. Twin 2 had an autistic spectrum disorder. Molecular karyotyping in twin 1 identified a 2p25.3 deletion, further confirmed by FISH analysis on leukocytes. Interestingly, array-CGH was normal in twin 2 but FISH analysis using the same probe as twin 1 showed mosaicism with 1/3 of cells with a 2p25.3 deletion, 1/3 of cells with a 2p25.3 duplication, and 1/3 of normal cells. Genotyping with microsatellite markers confirmed the monozygosity of the twins. We propose that the chromosome imbalance may be due to a mitotic non-allelic recombination occurring during blastomeric divisions of a normal zygote. Such event will result in three distinct cell populations, whose proportion in each embryo formed after separation from the zygote may differ, leading to discordant chromosomal anomalies between twins. We also discuss that the MYTL1L and the SNTG2 genes within the reported region could probably relate to the phenotypic discordance of the monozygotic twins.

Makes perfect sense, right?

OK, the text is a little bit dense, so lets break it down a little bit.  In this study there is a pair of four year old identical twin girls who have different but related developmental disorders -

Twin 1 -

• has global developmental delay (intellectual disability)
• is overweight
• is hyperactive
• has a deletion at 2.25p3

Twin 2 -

• has autism
• did not have an overall mutation at 2.25p3
• but did show signs of mosaicism, meaning that roughly -
• 1/3 of her cells had a 2.25p3 deletion
• 1/3 of her cells had a 2.25p3 duplication
• 1/3 of her cells had a normal 2.25p3 gene

If that last bit about one twin having a deletion at 2p25.3 while the other has a partial deletion and a partial duplication of the same gene leaves you confused, you aren't alone.  I had to read the abstract a few times and look up what some of the terms meant before it started making sense to me.

I haven't read the full text of the study but there are a few things that jumped out at me.

First, genetics - even in the case of identical twins - is not simple.  Most people hear the word "identical" and jump to the conclusion that identical means exactly the same.  But as this abstract and other results have shown, identical twins aren't exactly the same.  You cannot assume that because one twin has a certain genetic mutation that her twin will have the same.

Second, just because you can point to developmental differences between identical twins and can find a mutation in one twin does not mean that the mutation is automatically the cause.  There has to be a mechanism related to the mutation that could cause the differences.

Third, when you find differences in the genetics of identical twins, the fact that there are differences might be more important than what the actual differences are.  Any mutation that is not shared has to happen after conception but before the fetus gets large enough that a mutation wouldn't be able to spread to the entire body.

Since these mutations cannot be inherited there has to be something in the prenatal environment that causes them (and please don't say random chance).  It seems, at least to me, that any factor that is strong enough to cause permanent genetic change would also be able to play havoc with the delicate developmental process of the fetus.

Finally, you have to look at the overall picture of the twins to see if the mutation is important.  In the study the twins both have different yet related developmental disorders - global developmental delay and autism.  Since these conditions are so closely related and since it can be difficult to tell the difference between the two (especially in four year olds), I think the fact that both twins are both developmentally delayed is more important than the subtle differences between the two.

The bottom line here is that presumption that autism is largely genetic rests heavily on twin studies but the genetics of twins isn't as straight forward as you would think.  When you add in the facts that there isn't an "autism gene" or even a small set of "autism genes" but rather hundreds of mutations that might each account for a very small number of cases and that even identical twins don't always share these rare yet presumed causal mutations, the genetic presumption starts to look a little weak.

References

Rio M, Royer G, Gobin S, de Blois M, Ozilou C, Bernheim A, Nizon M, Munnich A, Bonnefont JP, Romana S, Vekemans M, Malan CT. Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH. Clin Genet. 2012 Oct 15. doi: 10.1111/cge.12036. [Epub ahead of print] PubMed PMID: 23061379.

State of Pennsylvania Backs Down on Autism Income Tax

On Friday of last week, the State of Pennsylvania backed away from from implementing its controversial autism copayment requirement for Medical Assistance.  In a released statement, Department of Public Welfare Secretary Gary D. Alexander said -

Oh shit, that didn't go over well.

Ahem, seriously, what he said was -

The department has always preferred the option of applying a premium to this program and will be working with stakeholders who have come to us in support of a premium as opposed to the co-payment.  Therefore, we have decided to delay the co-payment initiative, and families will not owe a co-payment for any services until further notice.

Stakeholders have clearly indicated to the department an understanding of the need for families to contribute to this program. With the delay, there is an opportunity to work with stakeholders to continue to pursue the premium from the federal Centers for Medicare and Medicaid Services. We look forward to working with them in achieving this shared goal.

Once a decision is reached, we will immediately inform any affected families.

Even though there is a bunch of nonsense in there about "stakeholders" begging asking to pay a premium instead of a copayment, the message is clear.  The copayment that would have caused economic hardship and potentially a loss of services for many families in Pennsylvania whose children have autism was stopped in its tracks, at least for now.

If you are living outside of the State of Pennsylvania or aren't a part of the informal parental networks in the state, you might wonder why the proposed copayments only lasted for about two short weeks before being yanked.

The answer is simple - the measure was stopped dead by the combined voices of thousands of families across the state.  Once the parents, families, and professionals who would have been impacted by the copayment became of aware of what was going on they mobilized and attacked the issue head on.  There was a march on the capital, a bill introduced in the PA House, calls to elected officials, and organized meetings about how to tackle the problems.

I think once the State of Pennsylvania figured out how seriously the autism community was taking this issue they decided it wasn't worth the fight.  It probably didn't hurt that elections are literally right around the corner either.