NEURODEVELOPMENT OF YOUNG MALES WITH FRAGILE X

患有脆性 X 病的年轻男性的神经发育

• 批准号: 2889187
• 负责人: WILLIAM H TRESCHER
• 金额: $ 33.59万
• 依托单位: HUGO W. MOSER RES INST KENNEDY KRIEGER
• 依托单位国家: 美国
• 财政年份: 1996
• 资助国家: 美国
• 起止时间: 1996-09-01 至 2001-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2889187
• 关键词: behavioral /social science research tag; behavioral genetics; bioimaging /biomedical imaging; cerebral ventricles; clinical research; cognition; communication behavior; developmental neurobiology; disease /disorder onset; fragile X syndromes; hippocampus; human subject; language disorders; longitudinal human study; magnetic resonance imaging; male; middle childhood (6-11); muscular dystrophy; neuroanatomy; neuropsychology; phenotype; preschool child (1-5); social behavior; behavioral /social science research tag; behavioral genetics; bioimaging /biomedical imaging; cerebral ventricles; clinical research; cognition; communication behavior; developmental neurobiology; disease /disorder onset; fragile X syndromes; hippocampus; human subject; language disorders; longitudinal human study; magnetic resonance imaging; male; middle childhood (6-11); muscular dystrophy; neuroanatomy; neuropsychology; phenotype; preschool child (1-5); social behavior

DESCRIPTION: This research will investigate the developmental onset and age related changes in the cognitive, behavioral, social and neuroanatomical correlates of the neuropsychiatric phenotype associated with the fragile X condition in young males. Molecular correlates of these changes will also be investigated. The study uses a multimethod, longitudinal sequential design for a 2 year evaluation of development in 48 fragile X males compared to 48 age and IQ matched males with developmental language delay (DLD) of unknown etiology. All subjects will be between 36 and 71 months old at the time of enrollment. Two follow up assessments of the child's cognitive, behavioral, and social functioning will occur at 12 and 24 month intervals. Neuroanatomical imaging (MRI) will occur with all subjects from both groups at the initial evaluation and a random subset of 24 subjects from each group at the 24 month follow up evaluation. A second contrast group of 30 young males with Duchenne muscular dystrophy (DMD; an X linked genetic disorder), enrolled at 60 to 95 months, will be used as a single evaluation outcome comparison group for the fragile X males. Males with DMD will be individually matched on IQ, developmental age, race and SES with a fragile X male. Developmental areas specifically addressed include: 1) cognition; 2) communication; 3) behaviors involving deficits in self regulation (e.g., stereotypies, hyperactivity); 4) social interaction; and 5) brain structures (e.g., caudate, hippocampus, cerebellar vermis). It is hypothesized that cognitive, communication, behavioral self regulation, and social interaction deficits will differ among the groups, will increase over time in the fragile X group but not in the comparison DLD group. It is expected that age related changes in neuroanatomical structures indicating ongoing, detrimental effects on the postnatal central nervous system of fragile X but not control males will be observed. This study will contribute to understanding the associated effects of a genetically determined developmental disability during an age period in which a high degree of developmental change is expected. It will also help identify the multiple biological and environmental influences on development in young, developmentally delayed children.

描述：这项研究将调查发展的发作和年龄 认知，行为，社会和神经解剖学的相关变化 与脆弱X相关的神经精神表型的相关性 年轻男性的状况。 这些变化的分子相关性也将 被调查。 该研究使用了多方法，纵向顺序 比较48个脆弱X男性开发评估2年的设计 到48岁，智商与男性与发展语言延迟（DLD）相匹配 未知的病因。 所有受试者将在36至71个月之间 入学时间。 两次对孩子认知的随访评估， 行为和社会功能将以12和24个月的间隔发生。 两组的所有受试者都将发生神经解剖成像（MRI） 在初步评估和每组24个受试者的随机子集中 在24个月的随访评估中。 第二个对比组30岁 雄性肌营养不良症（DMD； X连接的遗传疾病）， 在60到95个月的招生将被用作单个评估结果 脆弱X男性的比较组。 DMD的男性将是 与智能X上的智商，发展年龄，种族和SES单独匹配 男性。 专门解决的发展领域包括：1）认知； 2） 沟通; 3）涉及自我调节缺陷的行为（例如， 刻板印象，多动症）； 4）社会互动； 5）大脑结构 （例如，尾状，海马，小脑vermis）。 假设 认知，沟通，行为自我调节和社会互动 群体之间的赤字会有所不同，随着时间的流逝会增加 X组易碎，但不在比较DLD组中。 预计 与年龄相关的神经解剖结构的变化，表明正在进行 对脆弱x的产后中枢神经系统的有害影响，但 将观察到无法控制的男性。 这项研究将有助于 了解遗传确定的相关效果 在高度的年龄段 期望发展变化。 它还将帮助识别倍数 生物学和环境对年轻发展的影响 发育延迟的儿童。