Variable expression of the autism broader phenotype: Findings from extended pedigrees
Variable expression of the autism broader phenotype: Findings from extended pedigrees
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DOI：
10.1017/s0021963099005557
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发表时间：
2000-05-01
影响因子：
7.6
通讯作者：
Rutter, M
中科院分区：
文献类型：
--
作者：
Pickles, A;Starr, E;Rutter, M
影响自闭症先证者亲属中表型表达的速率、形式和严重程度的因素进行了研究。研究了来自149个自闭症儿童家庭和36个唐氏综合征儿童家庭的3095名一级和二级亲属和堂兄弟姐妹的家族史数据。研究结果进一步证明了自闭症亲属中广泛定义的自闭症表型的风险增加。先证者的特征，孤独症的严重程度和产科的最优性被证实与语言先证者的家庭负荷有关。缺乏语言的先证者之间的负荷变化不大。在亲属中报告的表型特征的类型似乎受亲属或先证者的特征的影响很小，除了由亲属的程度，亲属的父母地位，也许先证者的出生最优性评分的变化。父母之间的表型率表明，减少健身最多的和更多的沟通相关的表达形式，但不为更温和的和社会的表达形式。家庭内的表达模式不支持一个简单的X连锁，也不支持一个印记的X连锁遗传模式。性别差异的表达率的基础进行了讨论。
Factors influencing the rate, form, and severity of phenotypic expression among relatives of autistic probands are examined. Family history data on 3095 first- and second-degree relatives and cousins from 149 families with a child with autism and 36 families with a child with Down syndrome are studied. The results provide further evidence of an increased risk among autism relatives for the broadly defined autism phenotype. Of proband characteristics, severity of autism and obstetric optimality were confirmed as being related to familial loading for probands with speech. There was little variation in loading among probands lacking speech. The type of phenotypic profile reported in relatives appeared little influenced by characteristics of the relative or the proband, except for variation by degree of relative, parental status of relative, and perhaps proband's birth optimality score. Phenotypic rates among parents suggested reduced fitness for the severest and more communication-related forms of expression but not for the more mild and social forms of expression. Patterns of expression within the families did not support a simple X-linked nor an imprinted X-linked mode of inheritance. The basis for sex differences in rates of expression is discussed.