FAMILY GENETICS OF AUTISM AND ASPERGER DISORDER

这个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病学中的作用 通过对自闭症的研究而产生的精神障碍。了解遗传和 表观遗传因素对自闭症的表现和 相关行为将对关心的患者有直接好处 在他们的家族中反复出现；最终，澄清了这些 病情可能会阐明它们的发病机制。我们将收集数据， 将使我们有可能更全面地刻画 自闭症、社交和认知障碍之间的关系， 神经心理特征和其他神经精神疾病。我们 建议从50个智障自闭症家庭中抽取样本 先证者，80个高功能(非智障)自闭症家庭 先证者，阿斯伯格综合征先证者80个家庭和130个家庭 年龄和性别与对照组相匹配。这些家庭将允许直接 家庭的比较来确定这种“更广泛”的程度 表型“代表了自闭症较轻微的表现，以及 阿斯伯格综合征的病因学与这一谱系有关 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 对低、高功能人群家庭关系的认识 自闭症以及自闭症和阿斯伯格综合症之间的关系。潮汐数据关于 《惊魂记》将允许分析来检查这一光谱与 特定的精神疾病。这些数据将允许更完整的 社交恐惧症与自闭症患者的关系分析 频谱。为这项研究提出的家庭研究数据将允许更多 对这些社会类型之间的关系的广泛审查 残疾人士。我们计划将所有已确定为 分子遗传学项目在这些分析中检查是否 这些家庭的表型与在以下家庭中观察到的相似 只有一个孩子患有自闭症和/或阿斯伯格综合症。总而言之， 案例中，信息将直接获得所有结构化评估 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用于评估 自闭症及相关疾病和有组织的精神病学访谈 所有主要精神疾病的记录。

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.