COMMUNICATION OF YOUNG MALES WITH FRAGILE X SYNDROME

患有脆性 X 综合症的年轻男性的沟通

• 批准号: 6998833
• 负责人: Joanne E. Roberts
• 金额: $ 5.43万
• 依托单位: UNIV OF NORTH CAROLINA CHAPEL HILL
• 依托单位国家: 美国
• 财政年份: 2001
• 资助国家: 美国
• 起止时间: 2001-05-01 至 2006-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6998833
• 关键词: Downs syndrome; behavioral /social science research tag; behavioral genetics; child (0-11); clinical research; communication behavior; fragile X syndromes; human subject; language development; longitudinal human study; male; nerve /myelin protein; parent offspring interaction

DESCRIPTION: Fragile X syndrome is the most common inherited cause of mental retardation. In addition to intellectual impairments which tend to become more apparent in later childhood, communication deficits are common although variable among males with fragile X syndrome (FXS). Currently, very little is known about the speech and language development of young males with FXS and the impact of genetic variation on their language development. The proposed research will examine longitudinally the communication development of preschool and elementary age males with FXS, focusing on language characteristics common in older males with FXS (e.g., perseveration of words and topics, declines in language growth), and examine how variations in genotype may explain these communication differences. This research also will compare the language development of males with FXS to males with Down syndrome (DS) and to typically developing matched controls. It is anticipated that males with FXS and DS will show overall communication delays and different profiles of communication development compared with typically developing males. In these communication profiles, nonverbal cognitive skills will be a strength for males with FXS and DS, followed by speech in isolated words and vocabulary, with syntax, particularly morphosyntax, being the weakest. However, the investigators expect that males with FXS and DS will differ in discourse skills; males with FXS will initiate interactions more frequently, maintain topics less often, and perseverate on words and topics more often. In addition, they hypothesize that FMR1 protein (FMRP) will contribute to the rate of change and profiles of communication skills of young males with FXS. Sixty preschool and elementary school age males with FXS, 40 males with DS, and 40 typically developing males matched for nonverbal intelligence age will be followed for five years. Vocabulary size and diversity, utterance length and complexity, topic maintenance and perseveration, speech accuracy and intelligibility, and overall receptive and expressive language will be compared for the three groups. Fragile X DNA testing and FMRP analysis from blood samples will be done only on males with FXS to determine the methylation status of the FMR1 gene and the percentage of lymphocytes producing FMRP. Growth curve methods will be used to quantify patterns of change over time in the overall level and rate of communication development, to develop profiles of cognitive, language, and speech development for each group, to determine the extent to which profiles differ among the groups over time, and to determine for males with FXS if variation in communication development can be accounted for by their genotype. Findings will contribute to a better understanding of the patterns of communication development in young males with FXS and provide an essential knowledge base for early communication intervention.

描述：脆弱的X综合征是最常见的心理原因 迟钝。除了倾向于变得更多的智力障碍 显然在童年后期，沟通不足很常见 男性患有脆弱X综合征（FXS）的变量。目前，几乎没有 关于使用FXS的年轻男性的言语和语言发展和语言发展 遗传变异对其语言发展的影响。提议 研究将纵向研究学前班的沟通发展 和带有FXS的小学时代男性，重点是语言特征 在具有FXS的老年男性中（例如，单词和主题的持久性， 语言增长），并检查基因型的变化如何解释这些 沟通差异。这项研究还将比较语言 开发具有FXS的男性发展为唐氏综合症（DS）的男性和通常 开发匹配的控件。预计患有FX和DS的男性将会 显示整体沟通延迟和交流的不同概况 发展与通常发展的男性相比。在这些交流中 个人资料，非语言认知能力将成为FX和FX的男性的优势 DS，然后用孤立的单词和词汇进行语音，语法， 特别是形态元素，是最弱的。但是，调查人员期望 具有FX和DS的男性在话语技能上会有所不同。有FXS的男性会 更频繁地启动互动，保持主题的频率较低，并且 更频繁地在单词和主题上坚持不懈。此外，他们假设 FMR1蛋白（FMRP）将有助于变化率和概况 与FXS的年轻男性的沟通技巧。六十个学前班和小学 有FXS的学龄男性，40名与DS的男性和40名通常发展的男性 将遵循非语言智能年龄匹配五年。 词汇大小和多样性，话语的长度和复杂性，主题 维护和毅力，语音准确性和清晰度以及总体 将比较三组的接受语言和表达语言。 脆弱的X DNA测试和来自血液样本的FMRP分析只能在 患有FXS的男性确定FMR1基因的甲基化状态和 产生FMRP的淋巴细胞百分比。生长曲线方法将用于 量化随着时间时间的变化模式，并在整个水平上量化 沟通发展，发展认知，语言和 每个小组的语音发展，以确定概况的程度 随着时间的流逝，各组之间的不同，并确定FXS的男性 通信发展的变化可以通过其基因型来解释。 调查结果将有助于更好地理解 年轻男性与FXS的交流发展，并提供了必不可少的 早期交流干预的知识库。