[Genetic findings in autism spectrum disorders].

Autism spectrum disorders (ASD) are pervasive developmental disorders comprising problems in social interaction, communication, and stereotyped behavior and interests. They show a prevalence of around 0.8% in children, adolescents, and adults, and a skewed sex distribution (about 4:1 = male:female). ASD are predominantly genetically determined disorders. Heritability estimates from twin studies range between 64 and 91%. Recurrence risk in siblings is 20-fold elevated. De novo and inherited monogenetic disorders, mutations, sex chromosomal abnormalities, cytogenetic and imprinting disorders as well as common variants are associated with ASD. Genetic disorders implicating a specific additional intervention are of specific clinical relevance. Genetic testing and counselling should be provided for all families and individuals with ASD. This article gives an overview on current basic genetic research in ASD, its clinical relevance and genetic counselling in ASD.