Friday, March 20, 2009

Cholesterol and autism

One of the doctors that treat my children who have autism suggested something this week that I had not heard of before.  He suggested that as part of their annual blood work that we should have their cholesterol level checked to ensure that it isn't too low.  So I spend some time looking to see if there was any information available on this subject.

As it turns out there is some small amount of research that shows that there might be a relationship between low cholesterol levels and autism in a subset of the population.

The possible link between low cholesterol seems have be an offshoot of research into Smith-Lemli-Opitz syndrome (SLOS) which is a metabolic disorder which renders the body unable to make enough cholesterol  to support normal growth and development.  This is a relatively rare disorder (1 in 20,000 to 40,000) that is characterized by distinctive facial features, small head size (microcephaly), mental retardation or learning disabilities, and behavioral problems.  It is caused by a mutation in the DHCR7 gene on chromosome 11. 

Recent research into SLOS has found that most children with SLOS also have autism.  Based on this finding researchers from Johns Hopkins and Kennedy Krieger Institute decided to look at the issue of whether cholesterol played any role into autism. 

In the first study they looked at group of 100 subjects and found that while none of them had the specific markers for SLOS, 19 of them had very low levels of cholesterol (lower than 100 mg/dl which is below the 5th percentile of for children above the age of 2).  So there could be a group of people with autism who have problems with producing enough cholesterol.

In the second study they looked at whether cholesterol supplements helped autistic symptoms in individuals with SLOS and found that the supplements did indeed help.  The authors concluded that "cholesterol ought to be considered as a helpful treatment approach while awaiting an improved understanding of cholesterol metabolism and ASD" .

Or to summarize, we don't know what is going on but there might be a subset of the population with autism who have issues with producing enough cholesterol and giving extra cholesterol might help.

So what's the big deal with low cholesterol?  As adults we constantly hear that we have to lower our cholesterol (or at least the bad form of it) and how harmful high cholesterol can be but we never hear anything about having too low cholesterol.

I can't find a clear list of exactly what low cholesterol can cause but from what I can gather cholesterol is needed for normal development, plays a role in the development of cell membranes, and helps to form a protective covering for nerve cells (myelin).  Also, if you look at the symptoms of SLOS you can get an idea of what can go wrong - low muscle tone, malformations of internal organs, poor growth, mental retardation, as well as other problems.

So I am going to go out on a limb here and say that having too low of cholesterol isn't a good thing.

There clearly isn't much information available about this subject and the work that has been done is very preliminary and needs to be verified and replicated.  But as a  starting point it isn't bad and as I have pointed out in the past, when attempting to treat something like autism where the science isn't there yet you have to go with the best information available.

It will be interesting to see if my daughters have a low cholesterol level.  I don't have any real expectation that they will but it is certainly possible.  

If they do then it is something that we would want to address independent of the autism - if it helps the symptoms great, if not it would be a problem that would need to be addressed anyway.  If their level is normal then it is one more thing that we can cross off the list.


  1. MJ, I have been reading your blog for a few weeks now and really appreciate it. When I was actively reading at a number of message boards, some parents were discussing the use of high dietary cholesterol in autism. I've been away from most of the message boards for a while (burnout), but could pass some info on to you if you are interested in what they were doing & why.

    If you would really like to look into the possible connection between autism and low cholesterol closely, I would also suggest getting in contact with Chris Masterjohn. His blog, The Daily Lipid, takes a critical view of the current bias against cholesterol. He knows a great deal about the role of cholesterol as an essential part of human development. He's also a very nice guy.

    Best wishes for you and your girls.

  2. Thanks for the kind words and the link. I will be sure to check it out.

  3. I have been researching neurodegeneration and cholesterol for some time now.Cholesterol synthesis and degradation plays a huge role in the disease process.Tight regulation of cholesterol homeostasis is essential for proper neuronal development.Alter this regulation and disease will follow.The large money involved with lowering cholesterol would have you believe that the lower the level of total cholesterol the healthier you will be.Statins and now DHA-the omega three super hero are making big money.Now infant formula contains DHA and all of its triglyceride lowering benefits.Problem being,instead of improving brain development,it may have the oppositte effect.No one seems to be interested in how DHA actually works.I know,only because I have spent thousands of hours seperating fact from marketing hype.Here are a few facts that can not be disputed.Increasing DHA in cellular membranes will increase the unsaturation index of lipid bilayers.This will displace cholesterol and disrupt palmitoylation.Palmitoylation activates and deactivates protein signaling.This signaling is critical for axon pathfinding,neuron migration,synapse formation,dendrite outgrowth,glutamate receptor regulation as well as countless other aspects of neuronal development.Manufacturers of infant formula have no idea how supplemented DHA will affect cholesterol and these critical processes.This is why they are termed "Generally Regarded As Safe"from the FDA and allowed to be added.If cholesterol regulation is critical for proper brain development,shouldn't we be concerned with supplements that may alter homeostasis?I need help.I would like the manufacturers to admit how little they know about these wonder supplements.Please e-mail me would like to get a list of names of parents who are interested in exposing the truth and protecting our children.

  4. Thanks for this kind of information what effect of low cholesterol.  Cholesterol Support