Behavioral phenotypic variation in autism multiplex families: Evidence for a continuous severity gradient
Behavioral phenotypic variation in autism multiplex families: Evidence for a continuous severity gradient
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DOI：
10.1002/ajmg.10188
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发表时间：
2002-03-08
期刊：
影响因子：
--
通讯作者：
Risch, N
中科院分区：
文献类型：
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作者：
Spiker, D;Lotspeich, LJ;Risch, N
最近对自闭症的遗传学研究研究了多个家庭，通常包括符合自闭症诊断标准的多兄弟姐妹家庭。然而，人们对这些多重家庭中患有自闭症的兄弟姐妹的具体行为特征知之甚少。我们利用聚类分析和相关分析研究了171个多子女家庭中351名自闭症兄弟姐妹的行为表型变异性和相似性。聚类分析的结果表明，自闭症患者可以在严重程度梯度上表现出特征：基于症状和损害的严重程度的连续体，通过自闭症诊断访谈修订(ADI-R)分数、言语-非言语状态和非言语智商得分来衡量。基于ADI-R评分的自闭症诊断标准DSM-IV和非语言智商得分在去除语言-非语言状态的影响后，仍然代表着严重程度的梯度。严重程度梯度被证明是可遗传的，其同胞相关性为30%，遗传度为60%。总而言之，在171个自闭症多重家庭的样本中，没有证据表明受影响的个人或家庭的离散行为亚群具有不同的行为症状模式。相反，集群可以沿着单一的、可遗传的、连续的严重性维度来表征。(C)2002年Wiley-Liss，Inc.
Recent genetic investigations of autism have studied multiplex families, typically including families with multiple siblings who meet criteria for a diagnosis of autism. However, little is known about the specific behavioral characteristics of siblings with autism in these multiplex families. We investigated the behavioral phenotypic variability and similarity of 351 siblings with autism in 171 multiplex families using cluster analysis and correlations. The results of cluster analyses showed that the individuals with autism could be characterized on a severity gradient: a continuum based on severity of symptoms and impairment as measured by Autism Diagnostic Interview-Revised (ADI-R) scores, verbal-nonverbal status, and nonverbal IQ scores. Clusters based on scores from the ADI-R for the autism diagnostic criteria of the DSM-IV and nonverbal IQ scores still represented a severity gradient when the effects of verbal-nonverbal status were removed. The severity gradient was shown to be heritable, with a sib correlation of 30% or a heritability of 60%. In summary, in a sample of 171 autism multiplex families, there was no evidence of discrete behaviorally defined subgroups of affected individuals or families characterized by distinct patterns of behavioral symptoms. Rather, the clusters could be characterized along a single, heritable, continuous severity dimension. (C) 2002 Wiley-Liss, Inc.