Genetics of Autism Spectrum Disorders

Abstract

AbstractRecent research has shown that the traditional concept that each diagnosis is separate from all others is mistaken. The evidence shows the high level of overlap. Molecular genetic studies have shown that many genetic influences are pleiotropic and probabilistic, as well as having limited diagnostic specificity. Both common polymorphic variations and rare variants are involved. Single gene disorders are discussed with a focus on their possible reversibility. The goal of identifying causal biological pathways is sound, but the search has had very limited success so far. Although it is clear that genetic influences are very important in the liability to autism, the direct clinical implications are quite limited.