Genetic influences in autism

Abstract

Autism represents a prototypical form of pervasive developmental disorder. In the majority of narrowly defined cases, there is no clearly identifiable aetiology. In this paper, the evidence for genetic influences that stems from twin, family, cytogenetic and molecular genetic studies is reviewed. It suggests that genetic factors play a predominant role in the origins of a more broadly defined phenotype, characterized by a combination of cognitive and social deficits. Genetic mechanisms that may account for the findings, including single gene, mixed and multifactorial models are evaluated and directions for future research are considered.