NEUROBIOLOGY AND GENETICS OF AUTISM/RELATED CONDITIONS

在这项研究计划中，我们建议研究遗传因素，大脑- 行为关系，以及自闭症的发展过程， 相关条件。关注基本机制和临床 疾病引起了跨学科和跨学科的性质 的研究。本研究计划的目标包括：1） 通过系统的基因组搜索定位自闭症基因， 候选基因分析，2）更好地定义广泛的表型， 通过神经心理学、社会、认知和 自闭症患者一级亲属的精神病学特征， 并确定是否同质亚型的 自闭症是在家庭内传播，3）澄清神经解剖学 通过神经影像学检查自闭症的相关性，以及4）检查 自闭症和相关病症（包括 儿童崩解症）通过系统的随访研究。 拟议了四个项目和三个核心资源。项目包括：1） 自闭症及相关疾病的分子遗传学，2）家族遗传学， 3)神经影像学，以及4）纵向研究。纵向随访 项目具有明确的临床重点。三大核心资源是 建议：1）管理，2）诊断和评估，3）数据 管理和统计。该计划项目建立在一个网络， 现有的合作，并利用重要的临床资源， 每个网站。

In this program of research we propose to study genetic factors, brain- behavior relationships, and aspects of developmental course in autism and related conditions. The concern with basic mechanisms and clinical disorders gives rise to the interdisciplinary and transdisciplinary nature of the research. Goals of this program of research include: 1) localization of genes in autism through a systematic genome search and candidate gene analysis, 2) better definition of the broad phenotype of autism by examination of neuropsychological, social, cognitive, and psychiatric profiles of first degree relative of patients with autism and Asperger's syndrome and to determine whether homogeneous subtypes of autism are transmitted within families, 3) to clarify the neuroanatomic correlates of autism through neuroimaging, and 4) to examine issues of the stability of the phenotypes of autism and related conditions (including Childhood Disintegrative Disorder) through systematic follow-up studies. Four projects and three core resources are proposed. Projects include: 1) Molecular genetics of autism and related conditions, 2) family genetics, 3) neuroimaging, and 4) longitudinal studies. The longitudinal follow-up project has and explicit clinical focus. Three core resources are proposed: 1) administration, 2) diagnosis and assessment, and 3) data management and statistics. The Program Projects builds on a network of existing collaborations and makes use of important clinical resources at each site.