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）：该研究项目的目的是 迅速发展自闭症的当前遗传研究。我建议 遗传研究的现有结果（即基因组筛查）研究较少 由于自闭症患者之间的异质性，确定性 疾病。即使根据严格且一致的标准诊断 （例如，自闭症诊断清单），自闭症患者的症状特征 差异很大，表明病因的可变性。因此，我建议确定 并验证假定的自闭症亚型，我称之为“发展 言语发育不良。 编程障碍，导致难以协调和测序 产生和结合语音（音素）所需的口服运动动作（音素） 形成音节，单词，短语和句子。我假设这是一个很大的 少数自闭症或非语言的人的特征是 发展性言语障碍。对我的假设的支持来自行为， 遗传和神经解剖学证据。在正在进行的研究中（合作 使用Hill Goldsmith）我正在确定并验证自闭症的DVD亚型 在大都市地区筛查所有自闭症儿童（18岁以下）； 确定该小组的成员也以DVD为特征； 选择一个未以DVD为特征的儿童的自闭症对照组 通常开发对照组；收集广泛的行为，医学， 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；并收集和存储DNA。目标 该研究金的研究培训是构建DVD的指标 从先前使用的诊断仪器的亚型 进行了基因组筛选（例如ADI和A-DOS），并将这些指数应用于 现有的屏幕数据以识别自闭症DVD的候选基因区域 亚型。