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Neurodiversity and genetic diversity

Gene Expression
By Razib Khan
Jan 24, 2013 3:17 PMNov 19, 2019 11:49 PM


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In the links below I alluded to a controversy over the "Neurodiversity movement". The basic issue is that people with Asperger syndrome and high functioning autism are being accused of putting their concerns above and beyond those of the large number of mentally disabled autistic individuals (some of whom are non-verbal, and exhibit severe cognitive deficits) in the grab for "rights." Rights here understood as the rights which black Americans, women, and gays have claimed, to be recognized as equal before the law and endowed with the same value in the eyes of society. As a deep philosophical matter I'm skeptical of Rights in a fundamental sense. As a conservative I'm skeptical of the push for a huge array of rights by a plethora identity groups. Socially recognized rights are valuable, and are cheapened and debased by dispensing them too liberally. For me the reality is that a functional society is one which has to assume as normative the preferences of the majority as being the guides for its proper organization, especially in cases where those preferences exhibit a strong innate aspect. Personally I find the social ticks of those with Asperger syndrome somewhat charming, and individuals who lack total social grace are often the best intellectual interlocutors. But it is implausible that we have to accept that many people on the extreme low social intelligence end of the spectrum are part of the "normal" range. Oddballs can find their place, and have their own dignity, but oddballs are oddballs (I speak as an oddball myself who assimilates with some impatience and reluctance to many of the norms of the mainstream). Autism and many cognitive/behavioral syndromes are highly heritable, but their genetic underpinnings are only weakly understood. But over the last few years the more powerful sequencing technologies are finally starting to yield something interesting. In particular it seems likely that these syndromes and behavioral types are the result of innumerable low frequency variants. Many of them may also be de novo, and part of the reason why paternal age is so important in predicting these tendencies in offspring. Two new papers in Neuron (both open access) highlight the current area of inquiry, Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders and Using Whole-Exome Sequencing to Identify Inherited Causes of Autism. I won't go over the gory details. But even if you aren't versed in medical genetics I assume "complete knockouts" does not have a positive connotation? Now mind you "wild type" is a subjective human construct. What is a deleterious mutation in one context may be a positive one in another. But I am not one to pussyfoot around, after all, I've admitted to the controversial proposition (to some) that Down syndrome is bad. Similarly, I think a lot of severe autism sufferers are suffering, and the genetic variations which are the cause of that suffering are bad. There are very brilliant high functioning autistic individuals who leverage their cognitive profile into virtuosity in their specialized knowledge domain. But these people are exceptional. And yet I do wonder if those who promote neurodiversity will take heart in the fact that their cognitive profiles are genetically grounded? The "born that way" argument is very compelling in our society, and genes have social power. If you suggest that perhaps the phenotypes of autistic individuals is due to higher mutational load there is an immediate pop culture reference one can leverage in the X-Men, where marking off those with biophysical differences due to genetic novelty is rendered as unjust. We live in interesting times.

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