Autistic Traits: Life Course and Genetic Structure

描述(申请人提供)：这项研究的长期目标是了解导致和改变自闭症和相关障碍的过程的因素的性质和作用机制。最近了解到，自闭症缺陷在普通人群中沿着严重程度的连续体存在，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数量性状的测量工具直到最近才出现。其中一个这样的工具，社会反应性量表(SRS--以前被称为社会互惠性量表)是一个包含65个项目的清单(需要15-20分钟完成)，它确定自闭症表型的3个标准领域中每一个领域的症状得分。该仪器上的分数将自闭症谱系障碍儿童与其他儿童精神障碍儿童区分开来。在以前的研究中，通过SRS衡量的互惠社会行为被发现具有高度的遗传性，通过SRS衡量的对社会缺陷的遗传影响被发现在很大程度上独立于对儿童精神病理学其他领域的遗传影响。 在这项前瞻性研究中，SRS将被用来检查自闭症特征在5年期间的稳定性和变化，在临床(n=275)和流行病学双生子(n=1350)样本中。自闭症特征的生命历程将在自然界中出现这种特征的整个严重程度范围内进行检查。将探索遗传和环境影响对严重程度随时间变化的影响，并将研究受影响儿童的预后作为严重程度、年龄、性别、智商、自闭症、合并精神疾病和治疗条件的函数。还将探讨阈值以下自闭症特征的因素结构，以及它们在受影响个人的家庭成员中聚集的程度。

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.