Genetic risk for ASD and neuropsychiatric variation in the general population

Autism spectrum disorder is now a large basket to catch all sorts of “borderline” or “unusual” behavior in school and pre-school kids. When I was in clinical practice, I recall seeing one Autistic Child (out of perhaps 10,000 that I saw, or were on the ward or in clinics and seen by others). Now it’s a catch-all phrase perhaps to “sooth concerned parents” (and teachers), … giving them <some diagnosis>, … which is better than no diagnosis.

Almost all genetic risk factors for autism spectrum disorders (ASDs) can be found in any general population, but the effects of this risk are unclear in people not ascertained for neuropsychiatric symptoms. Using several large ASD consortium and population-based resources (total n > 38,000), authors (in the attached below) find genome-wide genetic links between ASDs and typical variation in social behavior and adaptive functioning.

These findings are evidenced through both LD score correlation and de novo variant analysis, indicating that multiple types of genetic risk for ASDs result in a gradient –– a continuum of behavioral and developmental traits –– the severe tail of which can result in diagnosis with an ASD or other neuropsychiatric disorder. A continuum model should inform the design and interpretation of studies of neuropsychiatric disease biology. 

Nat Genet May 2o16; 48: 552–555

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