Sibling recurrence and the genetic epidemiology of autism.
Sibling recurrence and the genetic epidemiology of autism.
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DOI：
10.1176/appi.ajp.2010.09101470
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发表时间：
2010-11
期刊：
影响因子：
--
通讯作者：
Law P
中科院分区：
文献类型：
--
作者：
Constantino JN;Zhang Y;Frazier T;Abbacchi AM;Law P
虽然自闭症的症状表现出定量分布的性质，估计复发风险的家庭从来没有考虑或纳入定量表征的自闭症表型之间的兄弟姐妹。我们报告了来自1，235个家庭的2，920名儿童的定量表征结果，这些儿童参加了国家志愿者登记，他们符合至少有一名儿童受到自闭症谱系障碍（ASD）的临床影响和至少一个完整的生物兄弟姐妹的标准。在10.9%的家庭中发生了一个额外的孩子的传统定义的ASD。另外20%的非ASD患者有语言延迟的历史，其中一半表现出自闭症的言语品质。使用社会反应量表（SRS）的定量表征支持以前报道的聚集广泛的亚临床（定量）自闭症特征，否则未受影响的儿童在多发病的家庭，和相对缺乏定量自闭症特征的兄弟姐妹在单发病自闭症家庭。女孩的标准化严重程度评分下降到第一百分位严重程度阈值（相对于一般人口分布）以上的显着不太可能引起社区诊断比他们的男性同行。这些数据表明，根据如何定义，ASD中的兄弟姐妹复发可能超过先前发表的估计值，并随家庭类型而变化。这些结果支持了单纯性和多发性自闭症之间遗传传播机制的差异，并促进了目前对自闭症遗传流行病学的理解。
Although the symptoms of autism exhibit quantitative distributions in nature, estimates of recurrence risk in families have never previously considered or incorporated quantitative characterization of the autistic phenotype among siblings. We report the results of quantitative characterization of 2,920 children from 1,235 families participating in a national volunteer register who met the criteria of having at least one child clinically-affected by an autism spectrum disorder (ASD) and at least one full biological sibling. The occurrence of a traditionally-defined ASD in an additional child occurred in 10.9% of the families. An additional 20% of non-ASD-affected siblings had a history of language delay, half of whom had exhibited autistic qualities of speech. Quantitative characterization using the Social Responsiveness Scale (SRS) supported previously-reported aggregation of a wide range of subclinical (quantitative) autistic traits among otherwise unaffected children in multiple-incidence families, and a relative absence of quantitative autistic traits among siblings in single-incidence autism families. Girls whose standardized severity ratings fell above a first percentile severity threshold (relative to the general population distribution) were significantly less likely to have elicited community diagnoses than their male counterparts. These data suggest that, depending on how it is defined, sibling recurrence in ASD may exceed previously-published estimates, and varies as a function of family type. The results support differences in mechanisms of genetic transmission between simplex and multiplex autism, and advance current understanding of the genetic epidemiology of autism.
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DOI：
10.1176/appi.ajp.2009.08121894
发表时间：
2009-08
期刊：
The American journal of psychiatry
影响因子：
--
作者：
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通讯作者：
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DOI：
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发表时间：
2004-05-01
影响因子：
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通讯作者：
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DOI：
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发表时间：
2008-06-01
影响因子：
13.3
作者：
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通讯作者：
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DOI：
10.1001/archpediatrics.2009.98
发表时间：
2009-10-01
影响因子：
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作者：
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通讯作者：
Law, Paul A.
影响因子：
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作者：
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