Developing a Down Syndrome Health Instrument

开发唐氏综合症健康仪器

• 批准号: 10392340
• 负责人: Stephanie Lynn Santoro
• 金额: $ 16.64万
• 依托单位: MASSACHUSETTS GENERAL HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-04-03 至 2025-03-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10392340
• 关键词: Academy; Adherence; Adverse effects; Age; American; Behavioral; Biometry; Body mass index; Caregivers; Caring; Clinic; Clinical; Clinical Research; Clinical Trials; Clinical Trials Network; Code; Communities; Congresses; Data; Development; Disease; Down Syndrome; Effectiveness of Interventions; Face; Factor Analysis; Focus Groups; Foundations; Funding; Future; General Hospitals; General Population; Goals; Gold; Guidelines; Health; Health Status; Healthy People 2020; Height; Individual; Information Systems; International; Intervention; Interview; Learning; Life Expectancy; Massachusetts; Measurable; Measurement; Measures; Medical; Medical Care Costs; Medical Genetics; Medical Records; Melissa; Mental Health; Mentors; Metabolism; Methodology; Minnesota; Modeling; Obesity; Outcome; Paper; Participant; Patient Outcomes Assessments; Patients; Pediatric Hospitals; Pediatrics; Personal Satisfaction; Persons; Physicians; Population; Positioning Attribute; Primary Care Physician; Primary Health Care; Problem Solving; Process; Program Development; Psyche structure; Questionnaires; Race; Registries; Reporting; Research; Research Personnel; Research Training; Risk; Risk Factors; Sampling; Schools; Scientist; Self Administration; Site; Sleep; Sleep Apnea Syndromes; Social Well-Being; Statistical Data Interpretation; Surveys; Syndrome; Testing; Time; Training; United States; United States National Institutes of Health; Universities; Validation; Validity and Reliability; Weight; Well in self; Work; World Health Organization; base; career; career development; cognitive interview; cohort; comorbidity; design; dimensional analysis; effectiveness evaluation; experience; handicapping condition; improved; instructor; instrument; medical schools; medical specialties; member; novel; obesity risk; patient oriented research; pediatrician; population health; programs; recruit; skills; social factors; tool; trait; usability; user-friendly

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.

项目摘要/摘要 该建议提出了一项五年研究职业发展计划，重点是 开发经过验证的工具来衡量唐氏综合症（DS）的健康状况 扩展包括临床试验在内的未来研究的测量曲目。我是一个 哈佛医学院的讲师和医学遗传学的临床遗传学家 和马萨诸塞州综合医院（MGH）的代谢。概述的提案以 我以前的研究和临床经验与DS中的健康监测有关 我的主要导师乔纳森·温科夫（Jonathan Winickoff）博士的专业知识，实践专家，一个 执业儿科医生和经验丰富的NIH资助的研究人员，以及其他指导团队 成员：国际DS专家Brian Skotko博士，专家Melissa Constantine博士 在生物统计学分配中创建，设计和验证测量工具， 明尼苏达大学的生物固化设计与分析中心和约翰·科（John Co）博士 流程改进专家。拟议的研究和培训将使我为 一组跨学科技能，可以使我能够过渡到独立性医生 科学家研究，衡量和改善DS个体的健康。 尽管超过200,000名DS的人居住在美国，但迄今为止的研究已有 除了健康外，还专注于结果。该提案的基础是基于需求 准确地衡量所有个人的健康 - 特别是使用DS的人 - 以及死亡的死亡 该人群的可用工具。创建这样的乐器将提供晴雨表 当前的DS健康状况并在未来的研究中使用。在这个项目中，我建议创建 直接评估DS健康的仪器 - 唐氏综合症健康工具 （DHI）。更具体地说，该提案的目的是：1。 护理人员，具有DS的个人，DS和初级保健医生专家小组，以及 认知访谈以完善DS健康概念模型并创建项目库2。 管理DHI并建立DHI的内部有效性，可靠性和外部有效性 在临床研究中使用3。在两个试点环境中测试DHI的可用性：研究和 临床。该工具将首次测量DS患者报告的健康状况，并允许 衡量健康作为目前在该人群中无法实现的结果。这 可以识别护理中的差距，然后直接和优化可以改善护理的干预措施。