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首页> 外文期刊>American journal of psychiatry >The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood.
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The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood.

机译:儿童自闭症谱系障碍和相关神经精神疾病的遗传学。

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OBJECTIVE: Autism spectrum disorders are considered to be among the most heritable mental disorders, a notion based on surprisingly sparse data from small clinical studies. Population-based studies of the heritability of other neuropsychiatric disorders and comorbidities among them have also been sparse. The authors sought to address both of these issues. METHOD: Parents of all Swedish 9- and 12-year-old twin pairs born between 1992 and 2000 (N=10,895) were interviewed regarding autism spectrum disorders and associated conditions (response rate, 80%). Concordance rates and structural equation modeling were used for evaluating causes for familial aggregation and overlap between conditions. RESULTS: Monozygotic twins had higher concordance rates than dizygotic twins for autism spectrum disorders, attention deficit hyperactivity disorder (ADHD), developmental coordination disorder, and tic disorder. Genetic effects accounted for 80% (95% CI=29-91) of the variation in liability for autism spectrum disorders, 79% (95% CI=61-88) for ADHD, 70% (95% CI=35-83) for developmental coordination disorder, and 56% (95% CI=37-68) for tic disorder. Among monozygotic co-twins of children with autism spectrum disorders, the probability of having a diagnosis of ADHD was 44%, compared with 15% for dizygotic co-twins. Differences in cross-disorder effects between monozygotic and dizygotic twins were observed for most other comorbidities, and substantial proportions of the genetic variance for autism spectrum disorders was shared with each of the other disorders. CONCLUSIONS: Different neuropsychiatric disorders seem to have a common genetic etiology, suggesting caution in the use of diagnostic entities and proband status in efforts to uncover genes predisposing to autism spectrum disorders.
机译:目的:自闭症谱系障碍被认为是遗传性最强的精神障碍之一,这一概念基于来自小型临床研究的令人惊讶的稀疏数据。基于人群的其他神经精神疾病及其合并症的遗传学研究也很少。作者试图解决这两个问题。方法:对所有1992年至2000年之间出生的瑞典9岁和12岁双胞胎父母(N = 10,895)进行了访谈,以探讨自闭症谱系障碍和相关状况(回应率80%)。一致性率和结构方程模型用于评估家族聚集和条件之间重叠的原因。结果:在自闭症谱系障碍,注意力缺陷多动障碍(ADHD),发育协调障碍和抽动障碍方面,单卵双胞胎的一致性率高于双卵双胞胎。遗传效应占自闭症谱系障碍责任变化的80%(95%CI = 29-91),多动症的79%(95%CI = 61-88),70%(95%CI = 35-83)对于发育协调障碍,56%(95%CI = 37-68)对于抽动障碍。在患有自闭症谱系障碍的儿童的单卵双胞胎中,被诊断为ADHD的可能性为44%,而双卵双胞胎为15%。在大多数其他合并症中,观察到单卵双胎和双卵双胞胎在交叉疾病方面的差异,并且自闭症谱系障碍的遗传变异中有相当大的比例与每种其他障碍共享。结论:不同的神经精神疾病似乎具有共同的遗传病因,这提示在使用诊断实体和先证者身份以发现易患自闭症谱系障碍基因的努力时要谨慎。

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