Developing a Down Syndrome Health Instrument

项目摘要/摘要 这份提案提出了一项为期五年的研究职业发展计划，重点是 唐氏综合征(DS)健康状况测评工具的研制 为包括临床试验在内的未来研究扩大测量范围。我是一个 哈佛医学院讲师，医学遗传学分部临床遗传学家 和马萨诸塞州总医院(MGH)的新陈代谢。概述的提案建立在 我以前在DS的健康监测方面的研究和临床经验 我的主要导师乔纳森·维尼科夫博士的专业知识，他是实践变革方面的专家， 执业儿科医生和经验丰富的NIH资助的研究人员，以及额外的指导团队 成员：布莱恩·斯科特科博士，国际DS专家，梅丽莎·康斯坦丁博士， 创建、设计和验证生物统计司的测量仪器， 明尼苏达大学生物静态设计和分析中心的 流程改进专家。拟议的研究和培训将使我具有独特的 一套跨学科的技能，使我能够过渡到作为一名医生的独立 研究、测量和改善DS患者健康的科学家。 尽管有超过20万名DS患者生活在美国，但到目前为止的研究已经 除了健康外，还关注结果。这项建议的基础是根据需要 要准确衡量所有人的健康状况--特别是患有DS的人--以及缺乏 可供该人群使用的工具。创造这样的仪器将提供一个晴雨表 目前DS的健康状况，并在未来的研究中使用。在这个项目中，我提议创建 一种直接评估DS患者健康状况的工具--唐氏综合征健康测定仪 (Dhi)。更具体地说，这项建议的目的是：1.在 照顾者、DS患者、DS专家小组和初级保健医生，以及 认知访谈，以提炼DS的健康概念模型，并创建项目库，2 管理DHI并建立DHI的内部效度、信度和外部效度 在临床研究中使用，以及3.在两个试点环境中测试DHI的可用性：研究和 临床上的。该仪器将首次在DS中测量患者报告的健康状况，并允许 将健康衡量作为一种结果，这在这一人群中目前是不可能的。这 可以找出护理方面的差距，然后指导和优化将改善护理的干预措施。

Project Summary/Abstract This proposal presents a five-year research career development program focused on the development of a validated instrument to measure health status in Down syndrome (DS) to expand the repertoire of measurements for future research including clinical trials. I am an Instructor at Harvard Medical School and a clinical geneticist in the Division of Medical Genetics and Metabolism at the Massachusetts General Hospital (MGH). The outlined proposal builds on my previous research and clinical experience related to health surveillance in DS by integrating the expertise of my primary mentor, Dr. Jonathan Winickoff, an expert in practice change, a practicing pediatrician and experienced NIH-funded researcher, and additional mentoring team members: Dr. Brian Skotko, an international DS expert, Dr. Melissa Constantine, an expert in creating, designing and validating measurement instruments in the Division of Biostatistics, Biostatical Design and Analysis Center at the University of Minnesota, and Dr. John Co, a process improvement expert. The proposed research and training will position me with a unique set of cross disciplinary skills that will enable me to transition to independence as a physician scientist to study, measure, and improve the health of individuals with DS. Although over 200,000 individuals with DS live in the United States, studies to date have focused on outcomes apart from health. The foundation for this proposal is based on the need to accurately measure health of all individuals – specifically, with DS – and the dearth of available tools for this population. Creating such an instrument will provide a barometer of the current state of health for DS and hold use in future research. In this project, I propose to create an instrument that directly assesses health in DS – the Down syndrome Health Instrument (DHI). More specifically, the aims of this proposal are: 1. To conduct focus groups among caregivers, individuals with DS, panels of experts on DS and primary care physicians, and cognitive interviews to refine a conceptual model of health for DS and create an item pool, 2. To administer the DHI and establish internal validity, reliability, and external validity of the DHI for use in clinical research, and 3. To test the usability of the DHI in two pilot settings: research and clinical. This instrument will measure patient-reported health in DS for the first time and allow measurement of health as an outcome which is not currently possible in this population. This can identify gaps in care, then direct and optimize interventions that will improve care.