Autistic Traits: Life Course and Genetic Structure

描述（由申请人提供）：本研究的长期目标是了解导致和改变自闭症及相关障碍进程的因素的性质和作用机制。最近人们了解到，自闭症缺陷在一般人群中存在着一个连续的严重程度，包括被称为“更广泛的自闭症表型”。能够可靠地确定自闭症症状作为定量特征的测量工具直到最近才出现。其中一个工具，社会反应量表（SRS——以前被称为社会互惠量表）是一个有65个项目的清单（需要15-20分钟完成），它确定了自闭症表型的3个标准领域的症状得分。仪器上的分数可以区分自闭症谱系障碍儿童和其他儿童精神障碍儿童。在之前的研究中，通过SRS测量的互惠社会行为已经被发现具有高度的遗传性，并且通过SRS测量的社会缺陷的遗传影响已经被发现在很大程度上独立于对儿童精神病理其他领域的遗传影响。

DESCRIPTION (provided by applicant): The long-term goal of this research is to understand the nature and mechanism of action of factors that cause and modify the course of autism and related disorders. It has recently been learned that autistic deficits exist along a continuum of severity in the general population, comprising what has been referred to as the "broader autism phenotype." Measurement tools capable of reliably ascertaining autistic symptoms as quantitative traits have only recently become available. One such tool, the Social Responsiveness Scale (SRS--formerly known as the Social Reciprocity Scale) is a 65-item inventory (requires 15-20 minutes to complete), which ascertains scores for symptoms in each of the 3 criterion domains of the autistic phenotype. Scores on the instrument distinguish children with autism spectrum disorders from those with other child psychiatric disorders. In previous studies, reciprocal social behavior, as measured b the SRS, has been found to be highly heritable, and genetic influences on social deficits measured by the SRS have been found to be largely independent of genetic influence on other domains of psychopathology in children. In this prospective study, the SRS will be used to examine stability and change in autistic traits over 5-year period, in clinical (n=275) and epidemiologic twin (n=1350) samples. The life course of autistic traits will be examined across the entire range of severity in which such traits occur in nature. The effects of genetic and environmental influences on change in severity over time will be explored, and prognosis in affected children will be studied as a function of severity, age, gender, I.Q., SES, comorbid psychiatric conditions, and treatment conditions. The factor structure of sub threshold autistic traits, and the extent to which they aggregate in the family members of affected individuals, will also be explored.