Genetics of autism

Autism and Autism Spectrum disorders (ASD) are predominately genetically determined. Phenotypically, ASD are heterogeneous disorders, presenting with a broad range of intellectual and language abilities as well as autism specific impairments in communication, social interaction, and stereotyped, repetitive behaviour. Twin studies have shown that the narrow as well as the broad phenotype of ASD are strongly genetically determined. Genetic research has elicited a few monogenic disorders, as well as genetic syndromes, which are known to cause ASD. Several candidate genes have been assessed for association with the disorder. In addition, copy number variations have recently been reported to be more frequent in ASD than in control individuals. The lecture addresses aspects of the ASD phenotype which are relevant for genetic studies, the most important genetic findings and their implication for genetic counselling in ASD.