Pickles A, Starr E, Kazak S, Bolton P, Papanikolaou K, Bailey A, Goodman R, Rutter M
MRC Child Psychiatry Unit and the Institute of Psychiatry, King's College, London, UK.
J Child Psychol Psychiatry. 2000 May;41(4):491-502.
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.
研究了影响自闭症先证者亲属表型表达的速率、形式和严重程度的因素。对来自149个有自闭症患儿家庭和36个有唐氏综合征患儿家庭的3095名一级和二级亲属及堂表亲的家族史数据进行了研究。结果进一步证明了自闭症亲属患广义自闭症表型的风险增加。在先证者特征方面，自闭症的严重程度和产科最优性被证实与有言语能力的先证者的家族负荷有关。无言语能力的先证者的负荷变化很小。亲属中报告的表型特征类型似乎很少受亲属或先证者特征的影响，除了因亲属关系程度、亲属的父母身份以及可能的先证者出生最优性评分的差异。父母中的表型发生率表明，最严重和与沟通相关的表达形式的适应性降低，但较温和和社交形式的表达则不然。家庭内部的表达模式不支持简单的X连锁或印记X连锁遗传模式。讨论了表达率性别差异的基础。
