Piven J, Palmer P, Jacobi D, Childress D, Arndt S
Department of Psychiatry, University of Iowa College of Medicine, Iowa City, USA.
Am J Psychiatry. 1997 Feb;154(2):185-90. doi: 10.1176/ajp.154.2.185.
Studies of families ascertained through a single autistic proband suggest that the genetic liability for autism may be expressed in nonautistic relatives in a phenotype that is milder but qualitatively similar to the defining features of autism. The objective of this study was to examine behaviors that may define this broader phenotype in relatives ascertained through two autistic siblings.
The authors used a semistructured family history interview to compare the rates of social and communication deficits and stereotyped behaviors in relatives ascertained through two autistic siblings (families with multiple-incidence autism; 25 families) with the rates in relatives of Down syndrome probands (30 families).
Higher rates of social and communication deficits and stereotyped behaviors were found in the relatives in the families with multiple-incidence autism.
These data suggest that further studies should be undertaken to delineate the boundaries of the broader autism phenotype and that this broader phenotype should be included in some future genetic analyses of this disorder.
通过单个自闭症先证者确定的家系研究表明，自闭症的遗传易感性可能在非自闭症亲属中以一种较为轻微但在性质上与自闭症的定义特征相似的表型表现出来。本研究的目的是检查那些可能界定通过两名自闭症同胞确定的亲属中这种更广泛表型的行为。
作者采用半结构化家族史访谈，比较通过两名自闭症同胞确定的亲属（多例自闭症家庭；25个家庭）与唐氏综合征先证者亲属（30个家庭）中社交和沟通缺陷以及刻板行为的发生率。
在多例自闭症家庭的亲属中发现社交和沟通缺陷以及刻板行为的发生率更高。
这些数据表明，应进一步开展研究以界定更广泛自闭症表型的边界，并且这种更广泛的表型应纳入该疾病未来的一些基因分析中。
