Characterizing the Natural History of Fragile X Syndrome to Inform the Development of Intervention,Outcome Measures

描述脆性 X 综合征的自然史，为干预措施和结果测量的发展提供信息

• 批准号: 10327881
• 负责人: Elizabeth Mara Berry-Kravis
• 金额: $ 80万
• 依托单位: RUSH UNIVERSITY MEDICAL CENTER
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-09-01 至 2026-08-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10327881
• 关键词: Characterizing; Natural; History; Fragile; Syndrome

SUM M ARY The purpose of this proposal is to build on the foundation of the Fragile X Online Registry With Accessible Research Database (FORWARD) and obtain more detailed longitudinal data describing the phenotype of children and young adults with fragile X syndrome (FXS) in order to better characterize the natural history of fragile X syndrome (FXS). A product of the study will be to understand the longitudinal trajectory of meaningful outcomes that impact the lives of children and adolescents with FXS with and without autism spectrum disorder (ASD), and from different racial/ethnic groups and geographic locations across the United States. The research will characterize cognitive, behavioral, and adaptive skills, and other indicators of functioning of individuals with FXS, and determine how these outcomes relate to diagnostic history, early intervention, and access to services. Finally, this study will collect data to explore the practical, financial, and psychological impact that caring for a family member with FXS has on caregivers and siblings of those with FXS. Post-award, outcomes to be measured will be chosen in coordination with CDC's Study to Explore Early Development (SEED) Follow-up Study (RFA- DD-21-001) and will include standardized in-person behavioral and functional assessments and follow-up computer-assisted telephone survey questionnaires. Data from this project and the SEED project will be collected and housed in a secure electronic data system maintained at a CDC-contracted organization. Outcomes chosen for study will facilitate comparison of health and functional outcomes for the FXS population with those for other related and frequently co - occurring conditions, such as ASD and developmental delay. Outcome data will assist with identifying public health gaps affecting those with FXS, inform service delivery recommendations and inform design of interventional studies, all with the goal of improving the lives of those with FXS and their families.

总金额 该提案的目的是在脆弱X在线注册表的基础上， 可扩展的研究数据库（FORWARD），并获得更详细的纵向数据 描述脆性X综合征（FXS）儿童和年轻人的表型， 更好地描述脆性X综合征（FXS）的自然史。这项研究的成果将是 了解影响儿童生活的有意义成果的纵向轨迹 和青少年FXS与和没有自闭症谱系障碍（ASD），并从不同的 种族/民族群体和美国各地的地理位置。这项研究将 描述认知，行为和适应技能，以及其他功能指标， FXS患者，并确定这些结果如何与诊断史，早期 干预和获得服务。最后，本研究将搜集资料，探讨实务上， 照顾FXS家庭成员对照顾者的经济和心理影响 和FXS患者的兄弟姐妹获奖后，将选择要衡量的成果， 与疾病预防控制中心的研究，探索早期发展（种子）的后续研究（RFA- DD-21-001），并将包括标准化的面对面行为和功能评估， 后续计算机辅助电话调查问卷。该项目的数据和 SEED项目将被收集，并保存在一个安全的电子数据系统中，该系统位于 CDC签约组织。选择用于研究的结果将有助于比较健康 FXS人群的功能结局与其他相关和经常合并的人群的功能结局， 发生的情况，如ASD和发育迟缓。结果数据将有助于 确定影响FXS患者的公共卫生差距，告知服务提供 建议并告知干预研究的设计，所有这些都是为了改善 FXS患者及其家人的生命。