Autism spectrum disorder (ASD) defines a collection of complex childhood neurodevelopmental disorders affecting ~1% of the population and conferring severe lifelong disability. ASD is characterized by a triad of impairments: 1) deficits in social interactions and understanding, 2) nonsocial impairments, such as repetitive behaviour and interests, and 3) impairments in language and communication development.
We have several projects examining the role of epigenetic variation in ASD and ASD-related phenotypes. First, we are undertaking a genomewide analysis of DNA methylation in a sample of 50 MZ twin pairs (100 individuals) sampled from a representative population cohort that includes twins discordant and concordant for ASD, ASD associated traits, and no autistic phenotype. Second, in collaboration with Dan Geschwind at UCLA we are examining epigenetic changes in post-mortem brain material from ASD patients.