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：
10.1111/1469-7610.00634
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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
对影响自闭症先证者亲属表型表达的比率、形式和严重程度的因素进行了研究。研究了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、二级亲属和堂兄弟姐妹的家族史数据。这一结果提供了进一步的证据，证明在自闭症亲属中广义自闭症表型的风险增加。在先证者特征中，自闭症的严重程度和产科最佳性被证实与有语言的先证者的家庭负担有关。在缺乏语言的先证者中，负荷量几乎没有变化。亲属报告的表型图谱类型似乎几乎不受亲属或先证者的特征的影响，除了亲属的程度、亲属的父母地位以及先证者的出生最佳性分数的差异外。父母中的表型比率表明，对于最严厉和更多与沟通相关的表达形式的适合性降低，但对于更温和和社交的表达形式并不是这样。家系内部的表达模式既不支持简单的X连锁遗传模式，也不支持印记X连锁遗传模式。讨论了表达速度性别差异的基础。
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.