FAMILY GENETICS OF AUTISM AND ASPERGER DISORDER

自闭症和阿斯伯格症的家族遗传学

• 批准号: 6336606
• 负责人: DAVID L PAULS
• 金额: $ 26.21万
• 依托单位: YALE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2000
• 资助国家: 美国
• 起止时间: 2000-06-01 至 2001-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6336606
• 关键词: Asperger syndrome; autism; child behavior disorders; child mental disorders; clinical research; family genetics; functional ability; gender difference; gene expression; human genetic material tag; human subject; mental disorder diagnosis; neurobiology; neuropsychology; phenotype

The long term objective of this project is a better understanding of the role of genetic and environmental factors in human neuropsychiatric disorders through the study of the autism. Understanding the genetic and epigenetic factors important for the manifestation of autism and associated behaviors will be of direct benefit to patients concerned about recurrence in their families; ultimately, clarifying the genetics of these conditions may elucidate their pathogenesis. We will collect data that will make it possible to characterize more completely the nature of the relationship between autism, social and cognitive difficulties, neuropsychological profiles and other neuropsychiatric conditions. We propose to collect a sample of 50 families of mentally retarded autistic probands, 80 families of high functioning (non-retarded) autistic probands, 80 families of Asperger syndrome probands and 130 families of age and gender matched controls. These families will allow a direct comparison of families to determine the extent that this "broader phenotype" represents a milder manifestation of autism and whether Asperger's syndrome is etiologically related to this spectrum of behaviors. Studying these families should help to clarify further the transmission of autism and related conditions and to further our understanding of the familial relationship of the low and high functioning autism as well as between autism and Asperger's syndrome. Tide data about psycho will allow analyses to examine the relationship of this spectrum to specific psychiatric conditions. These data will allow a more complete analysis of the relationship between social phobia and the autistic spectrum. The family study data proposed for this study, will allow a more extensive examination of the relationship between these types of social disabilities. We plan to include all multiplex families ascertained for the Molecular Genetics project in these analyses to examine whether the phenotype in these families is similar to that observed in families where there is only one child with autism and/or Asperger's syndrome. In all cases, information will be obtain direct structured assessment of all pertinent family members. These assessments will include an extensive neuropsychological assessment structured interviews for the assessment of autism and related conditions and structured psychiatric interviews for the documentation of all major psychiatric disorders.

该项目的长期目标是更好地了解 遗传和环境因素在人类神经精神疾病中的作用 通过对自闭症的研究来治疗疾病。了解基因和 表观遗传因素对自闭症的表现很重要， 相关的行为将直接有益于患者关注 在他们的家庭复发;最终，澄清这些遗传学 条件可以阐明其发病机理。我们将收集数据， 这将使我们能够更全面地描述 自闭症、社交和认知困难之间的关系， 神经心理学特征和其他神经精神疾病。我们 建议收集50个弱智自闭症患者家庭的样本， 先证者，80个高功能（非弱智）自闭症 先证者，80个家族的Alzheimer综合征先证者和130个家庭的 年龄和性别匹配的对照组。这些家庭将允许直接 家庭的比较，以确定在何种程度上，这“更广泛的 表型”代表了自闭症的一种较温和的表现， Alfreger综合征在病因学上与这一系列的 行为。研究这些家庭应该有助于进一步澄清 自闭症和相关疾病的传播，并进一步加强我们的 了解低功能和高功能的家庭关系 自闭症以及自闭症和自闭症综合征之间的关系。潮汐数据关于 心理学将允许分析来检查这个频谱与 具体的精神状况。这些数据将使一个更完整的 孤独症与社交恐怖的关系分析 江西篇章为这项研究提出的家庭研究数据，将使更多的 对这些类型的社会关系的广泛研究 残疾。我们计划将所有确定的多元化家庭纳入 分子遗传学项目在这些分析中，以检查是否 这些家族中的表型与在以下家族中观察到的表型相似， 只有一个孩子患有自闭症和/或自闭症综合症。在所有 案例中，将获得所有直接结构化评估的信息 相关的家庭成员。这些评估将包括广泛的 神经心理学评估结构化访谈评估 自闭症和相关疾病以及结构化精神病学访谈 所有主要精神疾病的记录。