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.

概括 该提案的目的是建立在 Fragile X 在线注册表的基础上 可访问的研究数据库（FORWARD）并获得更详细的纵向数据 描述患有脆性 X 综合征 (FXS) 的儿童和年轻人的表型，以便 更好地描述脆性 X 综合征 (FXS) 的自然史。该研究的一个产品将是 了解影响儿童生活的有意义结果的纵向轨迹 以及患有或不患有自闭症谱系障碍 (ASD) 的 FXS 青少年，以及来自不同国家的 美国各地的种族/族裔群体和地理位置。该研究将 描述认知、行为和适应技能以及其他功能指标 患有 FXS 的个体，并尽早确定这些结果与诊断史的关系 干预和获得服务。最后，本研究将收集数据来探索实际、 照顾患有 FXS 的家庭成员对护理人员造成的经济和心理影响 以及 FXS 患者的兄弟姐妹。颁奖后，将选择要衡量的结果 与 CDC 探索早期发育研究 (SEED) 后续研究 (RFA- DD-21-001）并将包括标准化的现场行为和功能评估以及 后续计算机辅助电话调查问卷。来自该项目和 SEED 项目将被收集并存放在一个安全的电子数据系统中，该系统的维护地址为 CDC 签约组织。选择的研究结果将有助于健康状况的比较 FXS 人群与其他相关且经常共同的人群的功能结果 发生的情况，例如自闭症谱系障碍和发育迟缓。结果数据将有助于 确定影响 FXS 患者的公共卫生差距，为服务提供提供信息 建议并为介入研究的设计提供信息，所有这些都是为了改善 FXS 患者及其家人的生活。