FAMILIAL STUDY OF SEVERE PHONOLOGY DISORDERS

该项目将研究的家庭和遗传基础， 发育性语音障碍，最普遍的群体， 儿童沟通障碍。 行为和分子遗传学 技术将用于区分临床基础的表型， 发育性音位学障碍，包括发育中的音位学障碍 与其他语言共病的孤立，语音障碍 和发育性言语失用症。 一大群同胞 对，N=500，通过患有语音障碍的先证者确定， 将在语音，表达和接受的措施进行检查 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，兄弟姐妹的相关性， 遗传性 基于遗传连锁分析的无模型方法 在兄弟姐妹对将被用来评估候选基因， 与语音处理能力有关， 阅读。 表型和传播方式的性别差异 将检查语音障碍。纵向随访 有学龄前语音障碍史的人将提供 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善 了解遗传基础，行为表型和发育 语音障碍的后果。

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.