FAMILIAL STUDY OF SEVERE PHONOLOGY DISORDERS

这个项目将研究家族性和遗传学基础。 发育性语音障碍，最常见的一组 儿童的沟通障碍。行为和分子遗传学 技术将被用来区分基于临床的表型 发育性语音障碍，包括中国的语音障碍 与世隔绝，与其他语言共存的语音障碍 语言障碍和发育性语言失用。一大批兄弟姐妹 配对，N=500，通过患有音系学障碍的先证者确定， 将在语音、表现力和接受性方面进行测试 语言、演讲和阅读。数据分析，包括隔离 分析，将检查家庭相似性、兄弟姐妹相关性，以及 遗传力。基于遗传连锁分析的无模型方法 兄弟姐妹配对将被用来评估具有 与语音加工能力有关的研究中 阅读。猪瘟表型和传播方式的性别差异 音韵学障碍将被检查。术后纵向随访 有学龄前语音障碍史的个人将提供 关于青少年言语、语言、阅读、拼写和 写作能力。该项目的总体目标是改进 对遗传基础、行为表型和发育的理解 音韵学障碍的后果。

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.