Developing a Down Syndrome Health Instrument

项目总结/摘要 该提案提出了一项为期五年的研究职业发展计划，重点是 开发一种有效的工具来测量唐氏综合征（DS）的健康状况， 为未来的研究，包括临床试验，扩大测量的范围。我是一个 哈佛医学院讲师，医学遗传学系临床遗传学家 和代谢在马萨诸塞州总医院（MGH）。概述的提案建立在 我以前的研究和临床经验与健康监测在DS整合 我的主要导师Jonathan Winickoff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：Brian Skotko博士，国际DS专家，Melissa Constantine博士，DS专家 在生物统计学部门创建，设计和验证测量仪器， 明尼苏达大学生物统计设计和分析中心， 流程改进专家拟议的研究和培训将使我成为一个独特的 一套跨学科的技能，使我能够过渡到独立作为一个医生 科学家研究，测量和改善DS患者的健康状况。 尽管超过20万患有DS的人生活在美国，但迄今为止的研究表明， 关注健康以外的结果。这项建议的基础是基于需要 准确测量所有人的健康-特别是DS -以及缺乏 为这一人群提供的工具。创建这样一个工具将提供一个晴雨表， DS的当前健康状况，并在未来研究中保留使用。在这个项目中，我建议创建 一种直接评估DS健康状况的工具-唐氏综合征健康工具 （DHI）。更具体地说，这项建议的目的是：1。进行焦点小组讨论， 护理人员、DS患者、DS专家小组和初级保健医生，以及 认知访谈，以完善DS的健康概念模型，并创建一个项目池，2。到 管理DHI并建立DHI的内部效度、可靠性和外部效度， 用于临床研究，3。在两个试点环境中测试DHI的可用性：研究和 临床。该仪器将首次测量DS中患者报告的健康状况， 健康测量作为一种结果，目前在这一人群中尚不可能。这 可以识别护理中的差距，然后指导和优化干预措施，以改善护理。

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.