Genetics of Autism and other Communication Disorders

自闭症和其他沟通障碍的遗传学

• 批准号: 6447018
• 负责人: Morton Ann Gernsbacher
• 金额: $ 4.94万
• 依托单位: UNIVERSITY OF WISCONSIN-MADISON
• 依托单位国家: 美国
• 财政年份: 2001
• 资助国家: 美国
• 起止时间: 2001-09-01 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/6447018
• 关键词: adolescence (12-20); apraxias; autism; behavioral /social science research tag; case history; child (0-11); clinical research; communication disorders; genetic mapping; genetic screening; genetics; genotype; human subject; magnetic resonance imaging; mass screening; mental health epidemiology; neuroanatomy; phenotype; postdoctoral investigator; verbal behavior

DESCRIPTION (provided by applicant): The goal of this research project is to advance rapidly the current genetic research on autism. I suggest that the existing results of genetic (i.e., genome screen) studies have been less definitive because of the heterogeneity among persons with autistic spectrum disorders. Even when diagnosed according to strict and consistent criteria (e.g., the Autism Diagnostic Inventory), symptom profiles of persons with autism vary greatly, suggesting variability in etiology. Thus, I propose to identify and validate a putative subtype of autism, which I refer to as "developmental verbal dyspraxia." Developmental verbal dyspraxia (DVD) is a motor-speech programming disorder resulting in difficulty coordinating and sequencing the oral-motor movements necessary to produce and combine speech sounds (phonemes) to form syllables, words, phrases, and sentences. I hypothesize that a sizable minority of minimally or nonverbal persons with autism are characterized by developmental verbal dyspraxia. Support for my hypothesis comes from behavioral, genetic, and neuroanatomical evidence. In ongoing research (in collaboration with Hill Goldsmith) I am identifying and validating a DVD subtype of autism by screening all children with autism (under age 18) in a metropolitan area; identifying the members of this group who are also characterized by DVD; selecting an autism control group of children not characterized by DVD and a typically developing control group; collecting extensive behavioral, medical, and developmental histories of all children in these groups; obtaining neuroanatomical (structural MRI) data; and collecting and storing DNA. The goal of the research training for this fellowship is to construct indices of the DVD subtype from the diagnostic instruments that have been used in the previously conducted genome screens (e.g., the ADI and A-DOS) and apply those indices to the existing screen data to identify candidate gene regions for the autism-DVD subtype.

描述（由申请人提供）：本研究项目的目标是 迅速推进目前对自闭症的基因研究。我建议 遗传学的现有结果（即，基因组筛查）研究较少 由于自闭症谱系患者之间的异质性， 紊乱即使根据严格和一致的标准进行诊断 (e.g.,自闭症诊断量表），自闭症患者的症状特征 差异很大，提示病因的变异性。因此，我建议确定 并验证一种假定的自闭症亚型，我称之为“发展性自闭症”， 语言运用障碍“Developmental verbal dyspraxia（DVD）is a motor speech 编程混乱导致难以协调和排序 产生和联合收割机合成语音（音素）所必需的口腔运动 形成音节、单词、短语和句子。我假设一个相当大的 少数患有自闭症的最低限度或无语言的人的特征是： 发展性言语运用障碍支持我的假设的是行为， 遗传和神经解剖学证据正在进行的研究（合作） 与希尔金匠）我正在确定和验证自闭症的DVD亚型， 在大都市地区筛查所有自闭症儿童（18岁以下）; 识别该组中也具有DVD特征的成员; 选择一组没有DVD特征的自闭症儿童作为对照组， 典型的发展对照组;收集广泛的行为，医疗， 这些群体中所有儿童的发展历史;获得 神经解剖学（结构MRI）数据;以及收集和存储DNA。目标 该奖学金的研究培训是构建DVD的索引 子类型的诊断仪器，已在以前的 进行基因组筛选（例如，ADI和A-DOS），并将这些指数应用于 现有的筛选数据，以确定候选基因区域的自闭症-DVD 亚型