Neuroscience. The emerging biology of autism spectrum disorders

Abstract

Autism spectrum disorders (ASD) are a genetically and phenotypically heterogeneous group of syndromes defined by fundamental impairments in social reciprocity and language development accompanied by highly restrictive interests and/or repetitive behaviors. Recent advances in genetics, genomics, developmental neurobiology, systems biology, monogenic neurodevelopment syndromes, and induced pluripotent stem cells (iPSC) are now offering remarkable insights into their etiologies and converging to provide a clear and immediate path forward from the bench to the bedside.

Figure 1. Developmental neurobiology of ASD risk genes

(A) Diverse subcellular distribution and pleiotropic roles for syndromic and idiopathic ASD proteins. (B) Expression profiles of select previously established and newly identified ASD genes during development of the human neocortex. See supplementary materials for methods.