A Danish population-based twin study on autism spectrum disorders
A Danish population-based twin study on autism spectrum disorders
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DOI：
10.1007/s00787-013-0419-5
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发表时间：
2014-01-01
影响因子：
6.4
通讯作者：
Bilenberg, Niels
中科院分区：
文献类型：
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作者：
Nordenbaek, Claudia;Jorgensen, Meta;Bilenberg, Niels
基于从人群中确定的双胞胎并进行彻底评估以获得高度诊断有效性的自闭症谱系障碍 (ASD) 遗传流行病学研究很少。我们接触了丹麦全国双胞胎登记处所有 3 至 14 岁的双胞胎。使用了三步程序。第一阶段的筛查使用了“儿童行为量表”（CBCL）中的五个项目，第二阶段的筛查包括“社交和沟通问卷”和“自闭症谱系筛查问卷”。最终的临床评估基于“黄金标准”诊断研究程序，包括诊断访谈、观察和认知检查。分类基于 DSM-IV-TR 标准。最初的样本包括 7,296 对同性双胞胎，经过两个阶段的筛选和临床评估，最终计算出 36 对。单卵 (MZ) 双胞胎（n = 13 对）中 ASD 的先证一致性率为 95.2%，异卵 (DZ) 双胞胎（n = 23 对）中 ASD 的先证一致性率为 4.3%。高 MZ 和低 DZ 一致率支持 ASD 的遗传病因学。
Genetic epidemiological studies of Autism Spectrum Disorders (ASDs) based on twin pairs ascertained from the population and thoroughly assessed to obtain a high degree of diagnostic validity are few. All twin pairs aged 3-14 years in the nationwide Danish Twin Registry were approached. A three-step procedure was used. Five items from the "Child Behaviour Checklist" (CBCL) were used in the first screening phase, while screening in the second phase included the "Social and Communication Questionnaire" and the "Autism Spectrum Screening Questionnaire". The final clinical assessment was based on "gold standard" diagnostic research procedures including diagnostic interview, observation and cognitive examination. Classification was based on DSM-IV-TR criteria. The initial sample included 7,296 same-sexed twin pairs and, after two phases of screening and clinical assessment, the final calculations were based on 36 pairs. The probandwise concordance rate for ASD was 95.2 % in monozygotic (MZ) twins (n = 13 pairs) and 4.3 % in dizygotic (DZ) twins (n = 23 pairs). The high MZ and low DZ concordance rate support a genetic aetiology to ASDs.