Rosenberg Rebecca E, Law J Kiely, Yenokyan Gayane, McGready John, Kaufmann Walter E, Law Paul A
Department of Medical Informatics, Kennedy Krieger Institute, Baltimore, MD 21211, USA.
Arch Pediatr Adolesc Med. 2009 Oct;163(10):907-14. doi: 10.1001/archpediatrics.2009.98.
To examine patterns of autism spectrum disorder (ASD) inheritance and other features in twin pairs by zygosity, sex, and specific ASD diagnosis.
Cross-sectional study.
Internet-based autism registry for US residents.
Survey results from 277 twin pairs (210 dizygotic [DZ] and 67 monozygotic [MZ]) aged 18 years or younger with at least 1 affected twin.
Zygosity and sex.
Concordance within twin pairs of diagnosis, natural history, and results from standardized autism screening.
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.
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.
按同卵性、性别和特定的自闭症谱系障碍（ASD）诊断，研究双胞胎对中ASD的遗传模式及其他特征。
横断面研究。
基于互联网的美国居民自闭症登记处。
277对18岁及以下的双胞胎（210对异卵双胞胎[DZ]和67对同卵双胞胎[MZ]）的调查结果，其中至少有1名受影响的双胞胎。
同卵性和性别。
双胞胎对中诊断、自然病史的一致性，以及标准化自闭症筛查结果。
DZ双胞胎的成对ASD一致性为31%，MZ双胞胎为88%。女性和男性MZ双胞胎的一致性分别为100%和86%，至少有1名女性的DZ双胞胎对比男性-男性DZ双胞胎对更不可能一致（20%对40%）。在第一个双胞胎被诊断为ASD后，第二个双胞胎被诊断为ASD的风险比，MZ双胞胎对DZ双胞胎为7.48（95%置信区间，3.8 - 14.7）。受影响的DZ个体双胞胎比MZ双胞胎在父母首次关注时年龄更小，且智力残疾诊断更频繁；MZ双胞胎双相情感障碍和阿斯伯格综合征的患病率更高，且后者的一致性更高。在超过90%的病例中，自闭症筛查结果与父母报告的ASD状态相关。
我们的数据支持MZ双胞胎比DZ双胞胎有更高的ASD一致性。受影响的MZ双胞胎与DZ双胞胎相比，总体功能更高、精神共病情况及阿斯伯格综合征一致性更高，这也可能表明不同ASD的遗传度存在差异。对于其中一个MZ双胞胎被诊断为ASD的家庭，第二个双胞胎在12个月后不太可能被诊断为ASD。此外，父母通过互联网报告的ASD状态是有效的。
