Friday, July 15, 2016

Article: autism and genetics are surprisingly complicated

http://www.npr.org/sections/health-shots/2014/10/29/359818102/scientists-implicate-more-than-100-genes-in-causing-autism

Between this and the study mentioned in NeuroTribes, linked here, one rather wonders how much can possibly be left to do, genetically, when studying autism.  But given that both studies call for more research, I guess it hasn't been sufficiently exhaustive.

If you don't have time to read the summaries of the three studies, in short: autism is likely caused in part by genetics, by over 100 different genes.  Previous research has only implicated a few dozen genes.  These studies looked at several thousand autistic people and their families/unaffected siblings.

This news, by the way, is unusual for any genetic disorder.  Usually to get a genetic disorder, you need a single coding mistake in a specific gene, and like a light switch being flicked on, you have that disorder.  Wikipedia has a table of genetic disorders that literally calls out the specific gene that is miscoded.

But apparently not so for autism.  It takes a lot of variations to get autism, and many of those variations are regularly found in normally-developing people.  I found it interesting that the researchers made the distinction between two categories: high IQ male cases, and low IQ male and all female cases.  At first glance, this reminds me of the philosophical clash between Kanner and Asperger for the definition of autism.  Silberman ends the book with a win for Asperger, but I wonder if the truth isn't a bit more complex than that, at least genetically.  That said, even if there does end up being a major difference, and the autism spectrum does turn out to be two different diagnoses, I'd much rather the Asperger's philosophy, ie: "this person is a person, and needs our help to communicate and reach their potential," rather than the end result of Kanner's philosophy, "this person is an empty shell, not truly a person, and we should give up on them."

I'm a little dubious of the researcher's claim that genetics might someday translate to immediately knowing what behavioral strategies to use with an autistic person.  It's... not impossible, but it kinda ignores personal agency and literally every environmental factor in a child's development.  At best, I could see knowing the genetic story might tell you whether certain foods are likely to set a child off, or perhaps that their brains don't process light or sound normally.  So you would have a better idea, if an autistic baby was screaming, of why the baby was upset.  I know at least one family that would really have appreciated that knowledge.

The article ends with a call for more research, like every scientific article even written.  It links to the Interactive Autism Network, which I guess is funding some autism research.  I have another to add here: SPARK.  I'm actually going to be participating in their research.  Seems they'll send you a kit to collect genetic material, which you can then send back to them for analysis.  It's cost-free for you.  They try to make a point of making their fine print stuff, like privacy policies, explanation of the study, etc, readable.  That's something I appreciate, because I feel like there's way too much fine print in my life as it is. 

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