Genetics of autism spectrum disorders.

TitleGenetics of autism spectrum disorders.
Publication TypeJournal Article
Year of Publication2011
AuthorsGeschwind, DH
JournalTrends in cognitive sciences
Date Published2011 Sep
KeywordsChild, Child Development Disorders, Pervasive, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Humans, Models, Biological

Characterized by a combination of abnormalities in language, social cognition and mental flexibility, autism is not a single disorder but a neurodevelopmental syndrome commonly referred to as autism spectrum disorder (ASD). Several dozen ASD susceptibility genes have been identified in the past decade, collectively accounting for 10-20% of ASD cases. These findings, although demonstrating that ASD is etiologically heterogeneous, provide important clues about its pathophysiology. Diverse genetic and genomic approaches provide evidence converging on disruption of key biological pathways, many of which are also implicated in other allied neurodevelopmental disorders. Knowing the genes involved in ASD provides us with a crucial tool to probe both the specificity of ASD and the shared neurobiological and cognitive features across what are considered clinically distinct disorders, with the goal of linking gene to brain circuits to cognitive function.

Alternate JournalTrends Cogn. Sci. (Regul. Ed.)