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孤独症是一组具有病因和临床异质性的神经发育性疾病,通常发病于3岁以前。孤独症具有3个典型的核心症状:语言交流缺陷,社交障碍以及狭隘兴趣和重复的行为。孤独症发病率在全球范围内呈增长趋势。双生子和家族聚集性研究发现遗传因素在孤独症的发病机制中起重要作用(遗传度>90%)。遗传学研究发现了孤独症的一些易感基因和位点,但仍然有70%~80%的孤独症患者遗传病因不明。
Autism is a group of neurodevelopmental disorders with etiology and clinical heterogeneity that usually precedes 3 years of age. Autism has three typical core symptoms: language communication deficiencies, social barriers and narrow interests and repeated behavior. The incidence of autism is on a global trend. Twins and familial aggregation studies found that genetic factors play an important role in the pathogenesis of autism (heritability> 90%). Genetics research found that some susceptibility genes and loci in autism, but still 70% to 80% of autistic patients with genetic etiology.