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Wednesday, November 11th, 2009

CNTNAP2

January 10, 2008 by Kristina Chew, PhD  
Filed under Health

More news studies on the genetics of autism: CNTNAP2 is contactin-associated proteinlike 2; it is “a blueprint of sorts for an important protein involved in the ability of brain cells to communicate with each other properly,” today’s ABC news reports. Three separate studies, published today in American Journal of Human Genetics, confirm a link between autism and this gene, which is associated with language and thought in young children. Dietrich Stephan comments on the three studies in Unraveling Autism.

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Comments

10 Responses to “CNTNAP2”
  1. Emily says:

    O’, but why o’ why do we continue to pursue these genetics studies when they are completely worthless and we ought to be testing on children’s intestines instead?

    The genetics picture groweth. Things are getting interesting.

  2. Leila says:

    This one part of the article should be emphasized to the “anti-genetic studies” camp:

    “It is reasonable to assume that individual environmental exposures act differently on each genetic subclass of the disorder”, and that’s precisely why you cannot pursue the environmental studies only without having the genetic component figured out first.

  3. Beth says:

    The intestinal connection is still a matter of debate. Many children do not have any GI issues (my son included) and many do not benefit from diet changes. There is much more evidence so far to support a genetic relationship than an intestinal one.

  4. Leila says:

    Beth, my son doesn’t have GI issues either. However I believe there’s a subset of autistic people who may have serious food intolerances, allergies and immune issues and this may be connected to brain function. Apparently there are different autism phenotypes, and they need to be mapped so their specific weaknesses can be addressed.

  5. Emily says:

    I was being ironic about the intestinal thing.

    My oldest son suffered from constipation, but we attributed it–correctly, I think–to anxiety, and we “cured” it with regular doses of flaxseed oil.

    None of our children appear to have food intolerances, allergies, or immune issues. We don’t have food intolerances or allergies, either.

    Which makes me wonder: has anyone looked at this in the family context, i.e., where GI issues are suspected, what’s happening with the parents’ intolerances, allergies, or immune problems, if any? Anyone know of any studies?

  6. Looking some things up—–one of Charlie’s aunts has celiac disease and lots allergies (hayfever, peanuts) on that side of the family too.

  7. Norah says:

    Our family has lots of allergies too, but they come from the mostly non-autistic father’s side. The autism comes from mother’s side mostly, and all they have running in the family there is asthma (which none of us in our direct family have).

  8. Cliff says:

    I got your irony, Emily, right away, but perhaps because I’ve seen a few of your posts here.

    Anyway, I’ve wondered about the genetic issues with the stomach things as well, and been thinking about the disposition thereof. It does seem that some autistics do have those issues (and I am not one of them), but the source isn’t clear at all to me.

    Cliff

  9. Louisa says:

    Our son had the worst skin, severe cracked cheeks & skin rashes, while I was breast feeding. His rashes dissapeared within a couple of days when he was weaned. Now I have found out that I am intolerant to gluten. I asked the GP if what I was eating was upsetting his tummy. Hmm.
    I think GP s should take parents concerns more seriously & start putting two & two together.

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  1. [...] speech delay makes me particular interested in one of the articles about CNTNAP2 published in the January 10th American Journal of Human Genetics. The article is by Maricela [...]



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