LONGITUDINAL OUTCOMES & NEUROIMAGING OF FRAGILE X SYND

纵向结果

基本信息

  • 批准号:
    8363425
  • 负责人:
  • 金额:
    $ 0.51万
  • 依托单位:
  • 依托单位国家:
    美国
  • 项目类别:
  • 财政年份:
    2011
  • 资助国家:
    美国
  • 起止时间:
    2011-08-01 至 2012-07-31
  • 项目状态:
    已结题

项目摘要

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. Primary support for the subproject and the subproject's principal investigator may have been provided by other sources, including other NIH sources. The Total Cost listed for the subproject likely represents the estimated amount of Center infrastructure utilized by the subproject, not direct funding provided by the NCRR grant to the subproject or subproject staff. Fragile X syndrome (fraX) is the most common known cause of inherited mental impairment with well over 100,000 individuals affected in the U.S. Mutations in the FMR1 gene give rise to a clinical phenotype that includes increased risk for aberrant cognitive, behavioral and emotional function. The major emphasis of the 5-year study proposed in this application is a prospective, longitudinal extension of the work completed during the current grant period, during which key cognitive, behavioral, neuroendocrinological, genetic and environmental data were collected from 120 families across the U.S. and Canada, each having a child proband affected with fraX and a typically developing sibling. To the best of our knowledge, this study would be the first longitudinal investigation of a large, school-age fraX cohort in which both biological and environmental factors contributing to clinical outcome were assessed on a prospective basis. We also propose to extend our investigation into the neurobiology of this disorder using advanced brain imaging techniques. Specifically, longitudinal imaging studies will be used to explicate the developmental trajectory of brain structure and function in children with fraX as compared to key control groups. Specific Aims: 1) To use a longitudinal, prospective experimental design (with "Time 1" and "Time 2" assessments) to elucidate the developmental trajectory of cognitive, behavioral and emotional development in probands with fraX compared to their like-gender siblings; 2)to specify the longitudinal trajectory of hypothalamic-pituitary-adrenal (HPA) function and measures of FMR1 gene expression in probands with fraX; and 3)to utilize neuromaging techniques to specify the trajectory of brain structure and function in children with fraX compared to specific age-, gender-, handedness-, SES- and IQ-matched control groups. Although knowledge of cognition, behavior and the brain in children and adults with fraX has grown considerably over the past 20 years, longitudinal data from school-age children with this condition are limited. Cross-sectional findings and limited longitudinal data to date support the hypothesis that an age-related decline in standardized cognitive and adaptive behavioral scores occurs among school-age children with fraX. However, many questions remain unanswered regarding this phenomenon, in particular as related to extent, timing and neural basis. These unanswered questions offer a compelling rationale for conducting a longitudinal study of a large group of school-age boys and girls with fraX as proposed in this application.
该副本是利用资源的众多研究子项目之一 由NIH/NCRR资助的中心赠款提供。对该子弹的主要支持 而且,副投影的主要研究员可能是其他来源提供的 包括其他NIH来源。 列出的总费用可能 代表subproject使用的中心基础架构的估计量, NCRR赠款不直接向子弹或副本人员提供的直接资金。 脆弱的X综合征(FRAX)是遗传性心理障碍的最常见原因,在美国FMR1基因中受影响的100,000多名患者会引起临床表型,其中包括增加对异常认知,行为和情感功能的风险增加的风险。本应用程序中提出的为期5年研究的主要重点是当前赠款期间完成的工作的前瞻性,纵向扩展,在此期间,从美国和加拿大的120个家庭中收集了关键的认知,行为,神经内分泌,遗传和环境数据,每个家庭都受到Frax和A典型发展的孩子的影响。据我们所知,这项研究将是对大型学龄大的Frax队列的首次纵向研究,其中对临床结果的生物学和环境因素均以前瞻性评估。我们还建议使用先进的脑成像技术扩展对这种疾病的神经生物学的研究。具体而言,与关键对照组相比,纵向成像研究将用于阐明FRAX儿童的大脑结构和功能的发育轨迹。具体目的:1)使用纵向,前瞻性的实验设计(具有“时间1”和“时间2”评估)来阐明具有FRAX的概率的认知,行为和情感发展的发育轨迹,与他们的性别兄弟姐妹相比; 2)指定下丘脑 - 垂体 - 肾上腺(HPA)功能的纵向轨迹和FRAX概率中FMR1基因表达的测量值; 3)与特定年龄,性别,手,SES-,SES-和IQ匹配的对照组相比,使用神经化技术来指定FRAX儿童的大脑结构和功能的轨迹。尽管在过去20年中,对患有FRAX的儿童和成人的认知,行为和大脑的了解已经大大增加,但这种病情的学龄儿童的纵向数据有限。迄今为止,横断面的发现和有限的纵向数据支持以下假设:标准化认知和适应性行为评分的年龄下降发生在FRAX的学龄儿童中。但是,关于这种现象,尤其是与程度,时机和神经基础有关的许多问题仍然没有解决。这些未解决的问题为对本申请中提出的大批学龄儿童和女生进行纵向研究提供了令人信服的理由。

项目成果

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Allan L Reiss其他文献

Allan L Reiss的其他文献

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{{ truncateString('Allan L Reiss', 18)}}的其他基金

Developmental trajectory of anxiety, avoidance, and arousal in girls with the FMR1 full mutation
FMR1 完全突变女孩的焦虑、回避和觉醒的发展轨迹
  • 批准号:
    10576763
  • 财政年份:
    2022
  • 资助金额:
    $ 0.51万
  • 项目类别:
Early life exposure to agricultural pesticides and functional brain imaging in young adults
年轻成人早期接触农业农药和功能性脑成像
  • 批准号:
    10303593
  • 财政年份:
    2021
  • 资助金额:
    $ 0.51万
  • 项目类别:
Early life exposure to agricultural pesticides and functional brain imaging in young adults
年轻成人早期接触农业农药和功能性脑成像
  • 批准号:
    10455703
  • 财政年份:
    2021
  • 资助金额:
    $ 0.51万
  • 项目类别:
Brain and Behavior during Puberty in Klinefelter Syndrome
克兰费尔特综合征青春期的大脑和行为
  • 批准号:
    10197985
  • 财政年份:
    2018
  • 资助金额:
    $ 0.51万
  • 项目类别:
Brain and Behavior during Puberty in Klinefelter Syndrome.
克兰费尔特综合征青春期的大脑和行为。
  • 批准号:
    10658503
  • 财政年份:
    2018
  • 资助金额:
    $ 0.51万
  • 项目类别:
Brain and Behavior during Puberty in Klinefelter Syndrome
克兰费尔特综合征青春期的大脑和行为
  • 批准号:
    9766339
  • 财政年份:
    2018
  • 资助金额:
    $ 0.51万
  • 项目类别:
Brain and Behavior during Puberty in Klinefelter Syndrome
克兰费尔特综合征青春期的大脑和行为
  • 批准号:
    10430045
  • 财政年份:
    2018
  • 资助金额:
    $ 0.51万
  • 项目类别:
Brain Development & Sex Chromosomes: Imaging of Turner and Klinefelter Syndromes
大脑发育
  • 批准号:
    8443566
  • 财政年份:
    2013
  • 资助金额:
    $ 0.51万
  • 项目类别:
Brain Development & Sex Chromosomes: Imaging of Turner and Klinefelter Syndromes
大脑发育
  • 批准号:
    8653989
  • 财政年份:
    2013
  • 资助金额:
    $ 0.51万
  • 项目类别:
LONGITUDINAL OUTCOMES & NEUROIMAGING OF FRAGILE X SYND
纵向结果
  • 批准号:
    8171029
  • 财政年份:
    2010
  • 资助金额:
    $ 0.51万
  • 项目类别:

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肥胖相关高血压机制中性别差异的起源
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