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: 7533928
• 负责人: DAVID J ZAJAC
• 金额: $ 34.19万
• 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 2013-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7533928
• 关键词: Accounting; Adaptive Behaviors; Adult; Affect; Age; Age-Years; Anxiety; Arousal; Attention; Blood specimen; Books; Characteristics; Child; Clinical; Cognition; Cognitive; Communication; Competence; Daily; Databases; Development; Down Syndrome; Fragile X Mental Retardation Protein; Fragile X Syndrome; Frequencies; Funding; Genetic; Genotype; Grant; Growth; Hereditary Disease; Impairment; Individual Differences; Inherited; Intervention; Language; Measures; Mediator of activation protein; Mental Retardation; Methods; Moderate Mental Retardation; Motor; Muscle hypotonia; National Institute of Child Health and Human Development; Pathway interactions; Pattern; Phenotype; Price; Production; Protein Analysis; Public Health; Publishing; Range; Rate; Reporting; Research; Role; Sampling; Speech; Speech Development; Speech Intelligibility; Standards of Weights and Measures; Syndrome; Testing; Time; Treatment Protocols; Voice; base; boys; male; mental age; oral motor; phonology; skills; social; speech accuracy; theories

DESCRIPTION (provided by applicant): Fragile X syndrome (FXS) is the most common inherited cause of mental retardation (MR), and unintelligible speech is a very common characteristic of young males with FXS. The proposed competing continuation study will compare segmental and prosody/voice features and speech intelligibility and identify potential mechanisms underlying individual differences in speech intelligibility of boys with FXS, Down syndrome (DS), and typical development (TD) to determine whether individual differences in speech production relate to FXS specifically or to MR in general. The specific aims of this study are to: a) identify syndrome-specific differences in speech characteristics (segmental, prosody/voice, and intelligibility) in FXS or DS; b) determine how segmental and prosody/voice features relate to lower levels of speech intelligibility in boys with FXS and test whether the predictors of intelligibility differ among boys with FXS, DS, and TD; and c) identify potential mechanisms (anxiety/arousal, motor speech, nonverbal cognition, attention) that may account for anticipated group differences in speech intelligibility among boys with FXS and DS. Sixty-five boys with FXS, 40 boys with DS, and 80 TD boys (30 with similar mental age [TD-MA] and 50 with similar chronological age [TD-CA]) will participate in the study. The boys with FXS, DS, and the TD-CA boys will be between 8 and 12 years of age and the TD-MA boys will be between 4 and 6 years of age. All groups except the TD-CA will have nonverbal MAs between 4 and 6 years. Speech production in single words, imitated sentences, and conversational speech will be examined for temporal (contrast duration, VOT) and spectral (vowel space, F2 interquartile range) segmental features, prosody/voice features (actual rate, fundamental frequency [F0 ] levels and variability, final intonation contour), and speech intelligibility (perceived intelligibility, words intelligible). Direct magnitude estimation (DME) studies will be used to examine perceived intelligibility. We will examine the motor speech (oral motor function), cognition (nonverbal cognition, attention), and adaptive behavior (anxiety/arousal) of boys with FXS, DS, and TD-MA annually for three consecutive years. TD-CA boys will be assessed twice (every other year). Fragile X Mental Retardation Protein (FMRP) analysis will also be done on blood samples from the boys with FXS. Growth curve methods will contrast patterns of change over time in the overall level and rate of growth in speech development for the three groups of boys to identify syndrome- specific differences in speech characteristics, determine predictors of intelligibility and ascertain if they are syndrome-specific, and test hypothesized mediators of group differences in speech intelligibility. The ability to be understood is critical for effective communication, and poor speech intelligibility compromises all aspects of communicative competence in daily interactions. Determining whether there is a specific speech phenotype for FXS that is syndrome-specific or characteristic of MR as well as determining the potential mechanisms underlying speech intelligibility difficulties has significant implications for determining treatment protocols. PUBLIC HEALTH RELEVANCE: The ability to be understood is critical for effective communication and poor speech intelligibility compromises all aspects of communicative competence in daily interactions. Fragile X syndrome (FXS) is the most common inherited cause of mental retardation, and unintelligible speech is a very common characteristic of boys with FXS. Determining whether there is a specific speech profile for FXS that is syndrome specific or characteristic of mental retardation, as well as determining the potential mechanisms underlying speech intelligibility difficulties, has highly significant implications for determining treatment protocols.

描述（由申请人提供）：脆性 X 综合征 (FXS) 是智力低下 (MR) 最常见的遗传原因，而言语不清是患有 FXS 的年轻男性的一个非常常见的特征。拟议的竞争性延续研究将比较片段和韵律/语音特征以及言语清晰度，并确定患有 FXS、唐氏综合症 (DS) 和典型发育 (TD) 的男孩言语清晰度个体差异的潜在机制，以确定言语是否存在个体差异生产具体与 FXS 相关，或者一般与 MR 相关。本研究的具体目的是： a) 识别 FXS 或 DS 中言语特征（音段、韵律/语音和可懂度）的综合症特定差异； b) 确定片段和韵律/语音特征与 FXS 男孩较低的言语清晰度水平有何关系，并测试 FXS、DS 和 TD 男孩的清晰度预测因子是否不同； c) 确定可能解释 FXS 和 DS 男孩言语清晰度预期群体差异的潜在机制（焦虑/唤醒、运动言语、非语言认知、注意力）。 65 名 FXS 男孩、40 名 DS 男孩和 80 名 TD 男孩（其中 30 名具有相似的心理年龄 [TD-MA]，50 名具有相似的实际年龄 [TD-CA]）将参加该研究。 FXS、DS 和 TD-CA 男孩的年龄在 8 至 12 岁之间，TD-MA 男孩的年龄在 4 至 6 岁之间。除 TD-CA 之外的所有团体都将有 4 到 6 年的非语言 MA。将检查单个单词、模仿句子和会话语音的语音生成的时间（对比持续时间、VOT）和频谱（元音空间、F2 四分位数范围）分段特征、韵律/语音特征（实际速率、基频 [F0] 水平）和变异性、最终语调轮廓）和语音可懂度（感知可懂度、单词可懂度）。直接震级估计（DME）研究将用于检查感知清晰度。我们将连续三年每年检查 FXS、DS 和 TD-MA 男孩的运动言语（口腔运动功能）、认知（非语言认知、注意力）和适应性行为（焦虑/觉醒）。 TD-CA 男孩将接受两次评估（每隔一年）。还将对患有 FXS 的男孩的血液样本进行脆性 X 智力迟钝蛋白 (FMRP) 分析。生长曲线方法将对比三组男孩言语发展的总体水平和增长率随时间的变化模式，以确定言语特征的综合症特定差异，确定清晰度的预测因素并确定它们是否是综合症特定的，并测试言语清晰度群体差异的假设中介。被理解的能力对于有效沟通至关重要，而语音清晰度差会影响日常互动中沟通能力的各个方面。确定 FXS 是否存在特定于综合征或 MR 特征的特定言语表型，以及确定言语清晰度困难的潜在机制，对于确定治疗方案具有重要意义。公共卫生相关性：被理解的能力对于有效沟通至关重要，而言语清晰度差会损害日常互动中沟通能力的各个方面。脆性 X 综合征 (FXS) 是智力低下最常见的遗传原因，言语不清是 FXS 男孩的一个非常常见的特征。确定 FXS 是否存在特定综合征或精神发育迟滞特征的特定言语特征，以及确定言语清晰度困难的潜在机制，对于确定治疗方案具有非常重要的意义。