A FAMILY STUDY OF MULTIPLE INCIDENCE AUTISM FAMILIES

多次发生自闭症家庭的家庭研究

• 批准号: 3088957
• 负责人: Joseph Piven
• 金额: $ 9.87万
• 依托单位: UNIVERSITY OF IOWA
• 依托单位国家: 美国
• 财政年份: 1992
• 资助国家: 美国
• 起止时间: 1992-09-01 至 1997-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3088957
• 关键词: Downs syndrome; adolescence (12-20); autism; child (0-11); cognition disorders; data collection; family genetics; family structure /dynamics; human subject; language disorders; male; mental disorders; parents; perinatal; personality disorders; questionnaires; siblings; training

Hereditary factors play a significant role in the etiology of autism. In addition to autism, abnormalities which are milder, but qualitatively similar to behaviors which define autism (i.e, particular personality, language and cognitive characteristics, and psychiatric disorders), have been shown to aggregate in relatives of autistic individuals. Clarification of the boundaries of phenotypic expression of the underlying genetic liability to autism is a critical preliminary step to further genetic analyses of this disorder. In addition, the finding that social deficits in the relatives of autistic probands, evident in measures of both personality and language, may be biologically-based and etiologically-related to particular cognitive disabilities and psychiatric disorders, is of importance beyond the significance these findings have for understanding the etiology of autism. This is an application for a Scientist Development Award for Clinicians. During the award period, the candidate proposes an organized program of training and supervised research. Training will focus on learning to assess and measure behaviors (i.e., language, personality and cognitive) hypothesized to define a "lesser variant" in autism and to develop a critical fund of knowledge in quantitative, medical and molecular genetics for examining the role of genetic factors in complex childhood neuropsychiatric disorders. The specific aims of the research portion of this award include: 1) estimation of the frequency of disorders that may be genetically associated with autism in first-degree relatives of autistic and Down syndrome probands and 2) definition of the characteristics of a "lesser variant" in autism for use in future genetic studies of this disorder by investigating the pattern of disorders among first-degree autism relatives. A variety of behavioral measures will be used to assess the first-degree relatives of autistic probands from multiple-incidence autism families and Down syndrome probands, in a case/control family study.

遗传因素在自闭症的病因中起着重要作用。 在 自闭症，异常，但质量更温和 类似于定义自闭症的行为（即特定的个性， 语言和认知特征以及精神疾病） 被证明是在自闭症患者的亲戚中汇总的。 澄清基础表型表达的边界 对自闭症的遗传责任是进一步的关键初步步骤 该疾病的遗传分析。 此外，社会的发现 自闭症概率亲属的缺陷，在两者的措施中都很明显 个性和语言，可能是基于生物学的，并且 与特定的认知障碍和精神科有关 疾病，重要的是这些发现对 了解自闭症的病因。 这是临床医生科学家发展奖的申请。 在颁奖期间，候选人提出了一个有组织的计划 培训和监督研究。 培训将专注于学习 评估和衡量行为（即语言，人格和认知） 假设可以定义自闭症中的“较小变体”，并开发 定量，医学和分子遗传学知识的关键基金 检查遗传因素在复杂儿童时期的作用 神经精神疾病。 研究部分的具体目的 该奖项包括：1）可能是疾病频率的估计 自闭症的一级亲属与自闭症相关 和唐氏综合症的概率和2）A的特征定义 自闭症中的“较少变体”用于未来的遗传研究 通过研究一级疾病模式来疾病 自闭症亲戚。 各种行为措施将用于评估 自闭症概率的一级亲戚来自多重构想 在案例/控制家庭研究中，自闭症家庭和唐氏综合症概率。