FAMILIAL STUDY OF SEVERE PHONOLOGY DISORDERS

严重语音障碍的家族研究

• 批准号: 6137855
• 负责人: BARBARA A LEWIS
• 金额: $ 33.63万
• 依托单位: CASE WESTERN RESERVE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1999
• 资助国家: 美国
• 起止时间: 1999-01-01 至 2003-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6137855
• 关键词: adolescence (12-20); apraxias; behavioral /social science research tag; behavioral genetics; clinical research; developmental genetics; family genetics; gender difference; genetic markers; human subject; language development; language disorders; linkage disequilibriums; linkage mapping; longitudinal human study; middle childhood (6-11); phenotype; phonology; preschool child (1-5); reading; siblings; speech; speech disorders; spelling; statistics /biometry

This project will examine the familial and genetic basis of developmental phonology disorders, the most prevalent group of communication disorders in children. Behavioral and molecular genetic techniques will be used to differentiate clinically based phenotypes of developmental phonology disorders, including phonology disorders in isolation, phonology disorders that are comorbid with other language disorders, and developmental apraxia of speech. A large cohort of sib pairs, N=500, ascertained through a proband with a phonology disorder, will be examined on measures of phonology, expressive and receptive language, speech, and reading. Data analysis, including segregation analyses, will examine family resemblance, sibling correlations, and heritability. Model-free approaches to genetic linkage analysis based upon sibling pairs will be used to evaluate candidate genes that have been associated with phonological processing abilities in studies of reading. Gender differences in phenotypes and modes of transmission of phonology disorders will be examined. Longitudinal follow-up of individuals with histories of preschool phonology disorders will provide data on adolescent outcomes for speech, language, reading, spelling and writing abilities. The overall aim of the project is to improve understanding of genetic basis, behavioral phenotypes, and developmental outcomes of phonology disorders.

该项目将检查的家族和遗传基础 发育语音障碍，最普遍的群体 儿童的沟通障碍。 行为和分子遗传 技术将用于区分基于临床的表型 发育语音障碍，包括语音障碍 隔离，与其他语言合并的语音障碍 疾病和言语的发展失用。 大量同胞 对，n = 500，通过语音障碍的概率确定， 将对语音，表达和接受的度量进行检查 语言，语音和阅读。 数据分析，包括隔离 分析，将检查家庭相似之处，兄弟姐妹相关性和 遗传力。 基于遗传链接分析的无模型方法 兄弟姐妹对将用于评估具有的候选基因 与语音处理能力有关 阅读。 表型和传播模式的性别差异 将检查语音障碍。纵向随访 具有学龄前语音疾病历史的个人将提供 有关言语，语言，阅读，拼写和的青少年结果的数据 写作能力。 该项目的总体目的是改善 了解遗传基础，行为表型和发展 语音障碍的结果。