Heritability and recurrence risk of autism spectrum disorders Rett syndrome and Angelman syndrome imply different interventions than a diagnosis of ASD, focussed on epilepsy, severe motor problems and adaptive behaviour, but not on SC. In clinical ASD populations, both syndromes are not more frequently found than by chance. Both syndromes are characterized by clinical and behavioural features that differ from ASD, such as motor problems and specific EEG and seizure patterns, and should therefore not be misdiagnosed as ASD. In the literature, some disorders, such as Rett syndrome and Angelman syndrome, are often subsumed under ASD. Detailed information on the recommended diagnostic procedures can be found in the German and UK clinical guidelines on ASD,. The diagnosis is based on direct behavioural observation as well as reports by parents, relatives or friends on the developmental history and early occurrence of symptoms. In addition to the core symptoms in the two areas of SC and RRB, ASDs come along with a broad range of psychiatric and medical comorbidities, such as attention-deficit/hyperactivity disorder (ADHD), anxiety disorders, oppositional, irritable and aggressive behaviour, epilepsy, motor problems and intellectual disability. The severity of ASD can range from being profoundly affected to very few symptoms, a phenomenon which has been named phenotypic heterogeneity. SC symptoms include language delay, limited pragmatic language abilities, aberrant non-verbal communication and persistent problems in social interaction with peers. Symptoms typically occur during early development, most often at the preschool age, and show a changing pattern over development, but in most cases persist into adulthood. Diagnostic criteria of autism spectrum disordersĪSD is a chronic condition defined by behavioural symptoms in two areas: first, social communication (SC), accompanied by, second, stereotyped and repetitive behaviour and restricted as well as sensory interests, often abbreviated as restricted and repetitive behaviour (RRB). Currently, no genetic test to predict ASD exists. ![]() The current article recapitulates the diagnostic criteria of ASD and summarizes the main genetic findings relevant for genetic testing and counselling after the behavioural diagnosis. In addition, ASDs show a broad range of comorbid disorders which may indicate specific underlying genetic findings. ASD symptoms are increased in many disorders previously defined as syndromic in the clinical genetic literature. They show a highly complex and heterogeneous underlying genetic architecture. Autism spectrum disorders (ASDs) are behaviourally defined developmental disorders.
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