Characteristics and Concordance of Autism Spectrum Disorders Among 277 Twin Pairs
Characteristics and Concordance of Autism Spectrum Disorders Among 277 Twin Pairs
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DOI：
10.1001/archpediatrics.2009.98
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发表时间：
2009-10-01
影响因子：
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通讯作者：
Law, Paul A.
中科院分区：
文献类型：
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作者：
Rosenberg, Rebecca E.;Law, J. Kiely;Law, Paul A.
目的：通过合子型、性别和特殊自闭症诊断来检测双胞胎中自闭症谱系障碍（ASD）的遗传模式和其他特征。设计：横断面研究。设置：基于互联网的美国居民自闭症登记处。参与者：来自277对双胞胎的调查结果（210例双卵[DZ]和67例单卵[MZ]）年龄在18岁或18岁以下，至少有一个受累双胞胎。主要暴露：合子和性别。结果测量：诊断，自然史，和标准化的自闭症screen.Results结果的双胞胎对内的一致性：成对ASD的一致性为31%的DZ和88%的MZ双胞胎。女性和男性MZ双胞胎的一致性分别为100%和86%，并且至少有1名女性的DZ双胞胎对的一致性（20%）低于男性-男性DZ双胞胎对（40%）。在第一对双胞胎诊断后，第二对双胞胎诊断为ASD的风险比为7.48，MZ与DZ双胞胎（95%置信区间，3.8-14.7）。受影响的DZ双胞胎有一个更早的年龄在第一次父母的关注和更频繁的诊断智力残疾比MZ双胞胎; MZ双胞胎有更高的双相情感障碍和Barger综合征的患病率和较高的一致性后者。自闭症筛查的结果与父母报告的ASD状态在90%以上的cases.Conclusions：我们的数据支持更大的ASD的一致性在MZ与DZ双胞胎。受影响的MZ与DZ双胞胎之间的总体较高功能，精神病合并症和Prugger综合征一致性也可能表明不同ASD的遗传力不同。对于其中一个MZ双胞胎被诊断为ASD的家庭，第二个双胞胎不太可能在12个月后接受ASD诊断。此外，ASD状态的互联网父母报告是有效的。
Objectives: To examine patterns of autism spectrum disorder (ASD) inheritance and other features in twin pairs by zygosity, sex, and specific ASD diagnosis.Design: Cross-sectional study.Setting: Internet-based autism registry for US residents.Participants: Survey results from 277 twin pairs (210 dizygotic [DZ] and 67 monozygotic [MZ]) aged 18 years or younger with at least 1 affected twin.Main Exposures: Zygosity and sex.Outcome Measures: Concordance within twin pairs of diagnosis, natural history, and results from standardized autism screening.Results: Pairwise ASD concordance was 31% for DZ and 88% for MZ twins. Female and male MZ twins were 100% and 86% concordant, respectively, and DZ twin pairs with at least 1 female were less likely to be concordant (20%) than were male-male DZ twin pairs (40%). The hazard ratio for ASD diagnosis of the second twin after a first-twin diagnosis was 7.48 for MZ vs DZ twins (95% confidence interval, 3.8-14.7). Affected DZ individual twins had an earlier age at first parental concern and more frequent diagnoses of intellectual disability than did MZ twins; MZ twins had a higher prevalence of bipolar disorder and Asperger syndrome and higher concordance of the latter. Results of autism screening correlated with parent-reported ASD status in more than 90% of cases.Conclusions: Our data support greater ASD concordance in MZ vs DZ twins. Overall higher functioning, psychiatric comorbidity, and Asperger syndrome concordance among affected MZ vs DZ twins may also suggest differential heritability for different ASDs. For families in which one MZ twin is diagnosed with ASD, the second twin is unlikely to receive an ASD diagnosis after 12 months. In addition, Internet parent report of ASD status is valid.