Developing a Down Syndrome Health Instrument

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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.