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疾病进程的因素的性质和作用机制。最近已经了解到，自闭症缺陷在一般人群中存在沿着连续的严重程度，包括所谓的“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只是最近才出现。其中一个工具，社会反应量表（SRS-以前称为社会互惠量表）是一个65项的清单（需要15-20分钟才能完成），它记录了自闭症表型的3个标准领域中的每一个症状的得分。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，互惠的社会行为，如测量的B的SRS，已被发现是高度遗传的，和遗传的影响，社会赤字测量的SRS已被发现在很大程度上独立于遗传的影响，对其他领域的精神病理学的儿童。 在这项前瞻性研究中，SRS将用于检查临床（n=275）和流行病学双胞胎（n=1350）样本中自闭症特征在5年期间的稳定性和变化。自闭症特征的生命历程将在自然界中发生的所有严重程度范围内进行检查。将探讨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与严重程度、年龄、性别、智商、SES、共病精神疾病和治疗条件。亚阈值自闭症特征的因素结构，以及在何种程度上，他们聚集在受影响的个人的家庭成员，也将进行探讨。

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.