16p11.2

Autism is probably not a single thing, but is likely rather a variety of syndromes. This is possible because in complex systems like the developing brain, a variety of causes can have the same effects, and the same cause can result in different effects in its interactions with other causes.

Alterations in 16p11.2 have been identified with autism and most recently with specific neuroanatomic differences. Note, though, in their descriptions, that they identify low IQ and poor language skills. If this is typical of 16p11.2 variants, it can hardly explain those of us who are identified as being on the spectrum and yet having high IQs and even a degree of language mastery. The Intense World Theory version of autism probably does better with people such as my son and I, as well as many of the more gifted autistics. But that would imply at least two major divisions within autism that it may be a good idea to completely separate from each other.

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4 thoughts on “16p11.2

  1. As a parent discovering my child had autism, i found the complexity and elusiveness of “causes” both confusing and infuriating. At first, you just want to know why. But then as they grow up you learn to live with not knowing, and once you get past that, you can appreciate the child’s gifts and unique nature. Im not sure how i feel about a schisming of the spectrum. In my limited experience, the profiles are often mixed, with both high and low abilities across different domains. Until there is a “test” of some kind, more definitive than IQ, on the “presence” of autism, it will be hard to know where to draw the line. I fear the prejudices that people with asd at whatever level (as well as people with developmental disabilities in general) are likely to experience are cultural, and will take time and concerted advocacy (such as yours) to change. I also like your discussion of concept formation in the linked article. It made a lot of sense to me. How can one react fluidly in a game such as life without a rulebook in hand? Thanks again.

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    1. As a parent (and person on the spectrum himself), to be honest, it really doesn’t matter what the underlying cause is. It’s all about working out, in, and through the behaviors. But the part of me with a B.A. in recombinant gene technology and two years of grad school in molecular biology wants to know everything about the molecular biology and neurobiology. 🙂

      I would say that one of the benefits of knowing if/that there are different underlying causes of autism is that there might be version of ASD that it might be worth focusing on developing a “cure” (whatever that may mean for something inherited) while there are other versions it may be best to leave alone.

      If we find out that there is something, like changes in 16p11.2, that almost always results in severe autism with low IQ, then that’s certainly different from those of us with glutamate cycle differences that result in relatively high IQs, high creativity, and a range of social awkwardness and rigid thinking and behaviors. I’m not sure we actually want the latter to ever be cured.

      Of course, when it comes to genetic expression–particularly in the brain–things are very, very, very complex. There are other genes involved, environmental factors. and regulatory and epigenetic factors. So the lines will probably always be fuzzy. I mean, consider the fact that changes in this same chromosomal region not only can cause autism, but also schizophrenia.

      I think some things are beginning to change regarding prejudices. I consider it to be a significant development that TV shows like Atypical and The Good Doctor are now on. I hope they do for us what shows like Ellen and Will & Grace did for the gay community in the U.S.

      If you’re not on the spectrum, you are typically born with the rulebook to playing the game of human social life. Neuroplasticity aids in that. But if there’s any rigidity in the brain’s plasticity, you move into an area where learning social phenomena is much like learning mat: it has to be done explicitly. But I’ve written about that here on the blog, too. 🙂

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      1. A well-reasoned and thoughtful reply as usual. What a great combination of skillsets you have! Im also glad to see autism portrayed on tv. I especially like The Good Doctor, even though it does portray someone with savant abilities, which could lead people to believe that this is common ( much like Dustin Hoffman’s Rainman) I was a fan of the Korean original before this one came out. Thanks again.

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      2. Thank you. I appreciate that.

        You know, it’s funny, but when I watch The Good Doctor, I don’t necessarily see “savant” in the way they portray him. When they show him solving a problem, they show him solving it using very powerful images, showing how he thinks primarily in images. It’s his good long-term memory and in particular visual thinking–rather typical autistic traits, in many ways–which are his strengths.

        Let me give a personal example. I majored in recombinant gene technology and minored in chemistry in college. I made B’s and C’s in Chemistry I and II, primarily because of the degree to which math was used (it wasn’t my strong suit). But then I took organic chemistry. Organic chemistry has little math, but requires extremely good visualization skills. Specifically, you need to be able to visualize complex organic molecule in 3-D, and be able to convert from 2-D drawings to 3-D and back again. Most people have to use ball-and-stick models to do that. And most people, including chemistry majors, do very poorly in organic chemistry.

        I never needed the ball-and-stick models, though I would sometimes build them to double check my mental models (which I did less and less as I grew more confident). I could see the 2-D drawings on the paper, pop them up off the paper, rotate them mentally, and put them back down onto the paper in 2-D. I could do that with more than one molecule and then react them in my head and get the right product. I could see it all in 3-D, which was necessary to understand organic chemistry at all. And as a result, my average for Organic Chemistry I was 97. My professor asked me if I wanted to join his lab, and I was a sophomore.

        I would argue that Shawn isn’t a savant at all. He is, like me, someone with typical autistic ways of thinking combined with a high IQ (thankfully, my social skills and speech patterns are better than his, so I can pass for non-autistic for longer than he can–something which can be its own curse).

        I haven’t seen the Korean original. I”ll have to see if I can find it somewhere.

        Liked by 2 people

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