Freitag Christine M
Klinik für Kinder- und Jugendpsychiatrie, Universitätsklinikum des Saarlandes, Homburg.
Z Kinder Jugendpsychiatr Psychother. 2008 Jan;36(1):7-14; quiz 14-5. doi: 10.1024/1422-4917.36.1.7.
Autistic disorders are heterogeneous. Affected individuals show impairments in communication and social interaction, as well as stereotypic, repetitive behaviour and special interests. The majority of autistic disorders are genetic in origin. The current article presents an overview of cytogenetic findings, as well as of results of molecular genetic linkage and association studies. Important differential diagnoses will be described. The results of genetic studies are especially relevant with regard to genetic counselling for affected families.
自闭症谱系障碍具有异质性。受影响的个体在沟通和社交互动方面存在障碍，同时还表现出刻板、重复的行为和特殊兴趣。大多数自闭症谱系障碍源于遗传。本文概述了细胞遗传学研究结果，以及分子遗传连锁和关联研究的结果。还将描述重要的鉴别诊断。遗传学研究结果对于为受影响家庭提供遗传咨询尤为重要。
