Phenotypic and molecular genetic analysis of autism

Abstract

Autism is an early onset neurodevelopmental disorder affecting three core areas of behaviour - communication, social interaction and restricted repetitive behaviour. Although family and twin studies indicate a genetic contribution to the aetiology of autism, definitive susceptibility genes have yet to be identified. Heterogeneity of autism phenotype has been proposed as a theory for lack of genetic associations. This research encompassed three aspects of autism genetic research: analysis of the autism phenotype, genetic based studies and molecular characterisation of positive associations.