Genetics of autism: characteristics of affected and unaffected children from 37 multiplex families.
Genetics of autism: characteristics of affected and unaffected children from 37 multiplex families.
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DOI：
10.1002/ajmg.1320540107
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发表时间：
1994-03
期刊：
影响因子：
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通讯作者：
Donna Spiker;L. Lotspeich;Helena C. Kraemer;Joachim Hallmayer;Joachim Hallmayer;William M. McMahon;P. B. Petersen;P. Nicholas;C. Pingree;Susan Wiese-Slater;Carla Chiotti;Dona L. Wong;Susan Dimicelli;E. Ritvo;L. L. Cavalli-Sforza-L.;L. L. Cavalli-Sforza-L.;Roland D. Ciaranello
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文献类型：
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作者：
Donna Spiker;L. Lotspeich;Helena C. Kraemer;Joachim Hallmayer;Joachim Hallmayer;William M. McMahon;P. B. Petersen;P. Nicholas;C. Pingree;Susan Wiese-Slater;Carla Chiotti;Dona L. Wong;Susan Dimicelli;E. Ritvo;L. L. Cavalli-Sforza-L.;L. L. Cavalli-Sforza-L.;Roland D. Ciaranello
来自双胞胎和家庭研究的证据有力地表明，遗传因素在某些婴儿自闭症病例的病因学中起着突出的作用。遗传因素在有多个自闭症成员的家庭（多重家庭）中预计会特别强烈。这份报告描述了44个家庭的两个或两个以上的自闭症儿童的识别和评估收集作为自闭症遗传连锁研究的一部分。家庭被称为一个假定的分类多重自闭症。被称为自闭症的儿童，以及他们假定正常的兄弟姐妹，使用自闭症诊断访谈（ADI）和自闭症诊断观察量表（ADOS）进行评估。44个家庭中有37个（87%）至少有两个孩子符合ADI的自闭症诊断标准。在这些家庭中评估的117名儿童中，83名（71%）符合所有ADI标准，可以明确归类为自闭症（受影响），26名（22%）不符合ADI标准，被归类为非自闭症（未受影响），8名（7%）被归类为不确定，因为他们符合一个或多个但不是所有ADI临界点。自闭症的兄弟姐妹在大多数自闭症特征、智商或语言能力方面并不显著一致。然而，对于与仪式和重复游戏相关的行为，以及对面部表情的表达和理解的社会障碍，发现了显着的一致性。（250字处删节）
Evidence from twin and family studies strongly suggests that genetic factors play a prominent role in the etiology of some cases of infantile autism. Genetic factors would be expected to be especially strong in families with multiple autistic members (multiplex families). This report describes the identification and evaluation of 44 families with two or more autistic children collected as part of a genetic linkage study in autism. Families were referred with a presumptive classification of multiplex autism. Children referred as autistic, as well as their presumptively normal siblings, were assessed using the Autism Diagnostic Interview (ADI) and the Autism Diagnostic Observation Scale (ADOS). Thirty-seven of the 44 families (87%) had at least two children who met diagnostic criteria for autism on the ADI. Of the total group of 117 children evaluated in those families, 83 (71%) met all ADI criteria and could be unambiguously classified as autistic (affected), 26 (22%) met none of the ADI criteria and were classified as not autistic (unaffected), and 8 (7%) were classified as uncertain because they met one or more but not all of the ADI cutpoints. Autistic siblings were not significantly concordant for most autism characteristics, for IQ, or for verbal ability. Significant concordances were found, however, for behaviors related to rituals and repetitive play, and for social impairments in the expression and understanding of facial expressions of emotion.(ABSTRACT TRUNCATED AT 250 WORDS)