UTAH AUTISM PROGRAM

该计划项目的重点是评估身体和行为 自闭症患者及其亲属的属性，以便 解决病原学异质性并更好地表征变量 表情。提出了四个项目，这些项目由 扩展表型表征和鉴定的共同主题 病因学亚组。项目I将测试假设 免疫异常可能参与自闭症的发病机制 在一个个体的子群中。大调中的变化 组织相容性复合体(MHC)将在自闭症患者中进行评估 个人、家庭成员和控件。这一变化将反过来 与IgA缺乏和5-羟色胺水平有关。项目II将 检验以下假设：自闭症患者的亲属表现出 自闭症的微妙认知变异。执行职能将是 在自闭症患者、亲属和对照中进行评估 更全面地描述自闭症患者的表现变化。 项目III将尝试通过评估来扩展自闭症的表型 自闭症受试者、家庭成员和其他精神病患者的对照 异常现象。它将检验自闭症亚群的假设 可以通过存在微小的物理异常和/或通过 视网膜功能异常。项目IV将检验这一假设 大脑或头部大小的增加定义了自闭症的一个亚群 个人。脑体积和病理将通过磁学进行评估 自闭症患者样本的磁共振成像并与 正常或大头的非自闭症对照组。这些项目 得到一个行政办公室、一个生物统计服务机构的支持 一种评估设施。

The focus of this program project is to assess physical and behavioral attributes of autistic individuals and their relatives in order to resolve etiologic heterogeneity and to better characterize variable expression. Four projects are proposed which are integrated by the common themes of extended phenotype characterization and identification of etiologic subgroups. Project I will test the hypothesis that immunologic abnormalities may be involved in the pathogenesis of autism in a subgroup of individuals. Variation in the major histocompatibility complex (MHC) will be evaluated in autistic individuals, family members, and controls. This variation will in turn be related to IgA deficiency and serotonin levels. Project II will test the hypothesis that relatives of autistic individuals exhibit a subtle cognitive variant of autism. Executive function will be assessed in autistic individuals, relatives, and controls to characterize more completely the variation in expression of autism. Project III will attempt to extend the phenotype of autism by assessing autistic subjects, family members, and controls for other psychiatric abnormalities. It will test the hypotheses that subgroups of autism can be defined by the presence of minor physical anomalies and/or by abnormalities in retinal function. Project IV will test the hypothesis that increased brain or head size defines a subgroup of autistic individuals. Brain volume and pathology will be assessed by magnetic resonance imaging in samples of autistic individuals and compared to non-autistic controls with normal or large head size. These projects are supported by an administrative office, a biostatistics service, and an assessment facility.