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Genetische Befunde bei Autismus-Spektrum-Störungen

Genetic findings in autism spectrum disorders

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Zusammenfassung

Autismus-Spektrum-Störungen (ASS) umfassen Störungen der sozialen Interaktion, Kommunikation sowie stereotypes Verhalten und Sonderinteressen. Sie zeigen eine Prävalenz von ca. 0,8 % im Kindes‑, Jugend- und Erwachsenenalter sowie eine Bevorzugung des männlichen Geschlechts (ca. 4:1 = männlich zu weiblich). ASS sind überwiegend genetisch bedingte Erkrankungen, wobei Heritabilitätsschätzungen aus Zwillingsstudien zwischen 64–91 % schwanken. Das Wiederholungsrisiko bei Geschwistern ist ca. 20-fach erhöht. De novo und vererbte monogenetische Erkrankungen, Mutationen, Geschlechtschromosomenaberrationen, zytogenetische Befunde, Imprinting-Erkrankungen sowie häufige Varianten sind mit ASS assoziiert. Von klinischer Relevanz sind insbesondere genetische Grunderkrankungen, die eine zusätzliche Diagnostik und Behandlung implizieren. Außerdem ist eine humangenetische Untersuchung im Blick auf die gezielte genetische Beratung von Familien hilfreich und sollte allen Familien sowie betroffenen Personen angeboten werden. In dem vorliegenden Artikel wird ein zusammenfassender, selektiver Literaturüberblick über den aktuellen Stand der genetischen Grundlagenforschung sowie der humangenetischen Untersuchung und genetischen Beratung bei ASS gegeben.

Abstract

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.

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  1. Klinik für Psychiatrie, Psychosomatik und Psychotherapie des Kindes- und Jugendalters, Autismus-Therapie- und Forschungszentrum, Universitätsklinikum Frankfurt, Goethe-Universität Frankfurt am Main, Deutschordenstr. 50, 60528, Frankfurt am Main, Deutschland

    C. M. Freitag

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Freitag, C.M. Genetische Befunde bei Autismus-Spektrum-Störungen. Nervenarzt 88, 760–764 (2017). https://doi.org/10.1007/s00115-017-0351-x

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