The genetics of autism

I had been planning on blogging about a couple of recent studies identifiying multiple genes that appear to be associated with autism and autism spectrum disorders, thus adding to the body of evidence showing that autism and ASDs have a significant genetic basis as part of their etiology. It turns out, however, that Steve Novella, who also happens to be a neurologist, the Director of the New England Skeptics’ Society, and the host of my favorite skeptical podcast, The Skeptics’ Guide to the Universe, has already beaten me to it, leaving me with little to say.

No big deal. There was so much to write about over the weekend that I pretty much have my week’s topics mapped out. I may comment later. In the meantime, read Dr. Novella’s take on these studies.


  1. #1 Stockton Hercules
    March 19, 2007

    Dr. Novella taught me in medical school (which I’m just finishing) – Nice to know he can still teach us on the web. Great tip.

  2. #2 isles
    March 20, 2007

    Dr. Novella’s article was excellent. About the best plain-language explication I’ve read of this whole controversy.

  3. #3 Leslie Feldman
    March 22, 2007

    If scientists were able to pursue the results of the CSHL research to the next logical step,they would assay the spermatagonia and sperm of all the fathers involved in the study for CNVs. The funders however are not interested in this.

  4. #4 Sridhar Vembu
    May 4, 2007

    As the father of an autistic child, I have a few questions about the genetic link to autism. By the way, I do accept that genes play a role (as they do in everything from asthma to cancer to … so that is both a factual and a trivial statement), but the is the doctor contending that genes alone are responsible?

    1. Genetic illnesses don’t just suddenly show up on a large scale, right? By now, even the CDC accepts that there has been a huge increase in the incidence of autism. By the way, it is impossible to put an autistic kid in a normal class, and not notice it first day, and school districts can tell you just how much more demand there is now for autism services compared to even 10 years ago.

    2. Most parents with autistic children (including myself and my wife) would tell you that we have no family history of anything remotely resembling autism. So where were the genes hiding all this while?

    3. Granting 1 & 2, if genes predisposed a person, then what pulled the trigger, so to speak? What changed in the last 10-20 years?

    Very suggestively, one thing did change: the frequency and the number of shots kids were given rose dramatically. I am 39, and I got 3, may be 4 shots as a kid. Today, starting at DAY ONE, kids get shots, and lots of them (I counted 15 in one recent kids case, and she is not yet 4).

    Of course, that does not prove causation, but at least it suggests a place to look. And combine that with anecdotal evidence from parents, there is a strong case for research. And as a parent, there is an equally strong case to investigate carefully before we pump more and more shots into kids.

    Sridhar Vembu

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