Speech of Young Males with Fragile X Syndrome

患有脆性 X 综合症的年轻男性的演讲

• 批准号: 7037608
• 负责人: Joanne E. Roberts
• 金额: $ 48.12万
• 依托单位: UNIV OF NORTH CAROLINA CHAPEL HILL
• 依托单位国家: 美国
• 财政年份: 2003
• 资助国家: 美国
• 起止时间: 2003-07-07 至 2008-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7037608
• 关键词: Downs syndrome; adolescence (12-20); behavioral /social science research tag; child (0-11); clinical research; cognition; communication; fragile X syndromes; hearing tests; human genetic material tag; human subject; immunocytochemistry; interview; longitudinal human study; male; mental retardation; phonology; polymerase chain reaction; protein structure function; sex linked trait; southern blotting; speech disorders

DESCRIPTION (provided by applicant): Fragile X syndrome is the most common inherited cause of mental retardation, and unintelligible speech is a very common characteristics of young males with fragile X syndrome (FXS). It is unclear what aspects of speech (e.g., rate, prosody, oral structure/function, articulation, phonological processes) cause poor intelligibility. Furthermore, it has not been determined what is the role of motor speech/FMR1 protein (FMRP) levels, cognitive/linguistic factors, and the communicative context in affecting intelligibility of conversational speech of males with FXS. Identifying these factors is important because the ability to be understood is critical for effective communication, and poor speech intelligibility compromises all aspects of daily verbal interactions. The proposed study builds on a currently funded R0-3 pilot study Hearing and Speech of Young with Males with Fragile X Syndrome, funded by the RFA "Neurobiology and Genetics of Fragile X Syndrome" in April of 2001, which examined at one point in time the speech and hearing skills of young males with fragile X syndrome. The proposed research will expand this research by examining longitudinally over a five year period the factors that affect changes in the speech intelligibility of 8 to 12 year old males with FXS in comparison to developmental age matched males with Down syndrome (DS) and males who are typically developing (TD). It will identify if motor speech/FMRP levels, cognitive/linguistic factors, and the social demands of the communicative context affect speech intelligibility. The specific objectives of this study are to: a) compare the development of phonological, prosodic, and segmental factors in the speech of males with FXS, males with DS, and TD males; b) identify the phonological, prosodic, and segmental factors affecting the speech intelligibility in conversational speech of males with FXS and determine if similar patterns of association are observed among males with DS and TD males; and c) to identify the motor speech/FMRP, cognitive/linguistic, and communicative contextual factors associated with speech intelligibility in conversational speech among males with FXS, and determine if similar patterns of association are observed among males with DS and TD males. Sixty males with FXS between 8 and 12 years of age, 40 males with Down syndrome between 8 and 12 years of age and 40 typically developing males matched for nonverbal intelligence age will be followed for five years. Speech production in isolated words, imitated sentences, spontaneous conversational speech, and narratives will be examined for prosodic and segmental features, phonological processes, and speech intelligibility for the three groups. In addition, children's oral motor skills, phonological processing, and selective listening will be examined. Fragile X DNA testing and FMRP analysis from blood samples will be done only on males with FXS. Growth curve methods will be used to quantify patterns of change over time in the overall level and rate of speech development including speech intelligibility. Of particular interest will be longitudinal analyses of speech intelligibility designed to determine the degree to which motor speech/FMRP, cognitive/linguistic, and contextual factors predict speech intelligibility among males with FXS. Subsequent analyses will ask whether factors associated with intelligibility among males with FXS are also associated among males with DS and TD males. Findings will contribute to a better understanding of the factors that affect speech intelligibility in young males with FXS and provide an essential knowledge base for speech intervention.

描述（由申请人提供）：脆弱的X综合征是最常见的智力降低遗传原因，而不可知的语音是患有脆弱X综合征（FXS）的年轻男性的非常普遍的特征。目前尚不清楚语音的哪些方面（例如，率，韵律，口头结构/功能，表达，语音过程）会导致不良的清晰度。此外，尚未确定运动​​语音/FMR1蛋白（FMRP）水平，认知/语言因素以及交流环境在影响男性与FXS的对话语音的清晰度方面的作用。确定这些因素很重要，因为被理解的能力对于有效的沟通至关重要，而且语音清晰度差会损害每日言语互动的各个方面。拟议的研究建立在2001年4月由RFA“神经生物学和脆弱的X综合征的遗传学”资助的现有资助的R0-3试点研究的听证和言语，其中有脆弱的X综合征，并于2001年在某个时间点检查了年轻男性患有脆弱X综合症的言论和听力技巧。拟议的研究将通过在五年的时间内纵向研究来扩大这项研究，这些因素会影响8至12岁男性的语音清晰度与FXS的语音清晰度变化，而与发育年龄的男性相比，男性与唐氏综合症（DS）和通常正在发展的男性（TD）相比。它将确定运动言语/FMRP水平，认知/语言因素以及交流环境的社会要求影响语音清晰度。这项研究的具体目标是：a）比较与FX，患有DS和TD男性的男性语音，韵律和分段因素的发展； b）确定影响有FXS的男性对会话语音的语音清晰度的语音，韵律和节段性因素，并确定与DS和TD男性男性中是否观察到相似的结合模式；和c）确定运动语音/FMRP，认知/语言以及与FXS男性对会话语音的语音清晰度相关的沟通性上下文因素，并确定与DS和TD男性男性中是否观察到类似的关联模式。 60名FX在8至12岁之间的男性，40岁的男性在8至12岁之间，40岁的男性通常会在非语言智能时代匹配的男性，通常会持续五年。以孤立的词，模仿句子，自发的对话语音和叙述的语音生产，将检查三个群体的韵律和分段特征，语音过程以及语音清晰度。此外，还将检查儿童口服运动技能，语音处理和选择性聆听。血液样本的脆弱X DNA测试和FMRP分析只能对患有FXS的男性进行。增长曲线方法将用于量化随着时间的流逝和语音发展速度（包括语音清晰度）的变化模式。特别感兴趣的是对语音清晰度的纵向分析，旨在确定运动语音/FMRP，认知/语言和上下文因素的程度预测男性FXS的语音清晰度。随后的分析将询问与DS和TD男性男性中与FX男性之间的可理解性有关的因素。调查结果将有助于更好地理解影响FXS年轻男性语音清晰度的因素，并为语音干预提供基本知识库。