The autism spectrum phenotype in ADNP syndrome

Background Pathogenic disruptions to the Activity Dependent Neuroprotector Homeobox (ADNP) gene are among the most common heterozygous genetic mutations associated with autism spectrum disorders (ASD). Individuals with ADNP disruptions share a constellation of medical and psychiatric features, including ASD, intellectual disability, dysmorphic features and hypotonia. However, the profile of ASD symptoms associated with ADNP may differ from that of individuals with another ASD-associated single gene disruption or with ASD without a known genetic cause. The current study examined the ASD phenotype in a sample of representative youth with ADNP disruptions.