Developing a Down Syndrome Health Instrument

Study Overview
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Brief Summary
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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.

Official Title
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Developing a Down Syndrome Health Instrument

Conditions
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Down Syndrome, Health, Subjective

Intervention / Treatment
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* Other: Observational, no intervention


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Primary caregiver of an individual with DS (individual with DS age: <22 years) Caregiver age: ≥18 years Fluent in written and spoken English Able to read and provide informed consent Exclusion Criteria: Physical or mental condition of caregiver that would prohibit self-administration of questionnaire Mosaic Down syndrome: based on medical record review. If caregiver is uncertain or mosaicism is unknown, we will request additional records.

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Focus Groups<br>N=52 | Other: Observational, no intervention<br>* No intervention involved<br>|
| Cognitive Interviews<br>N=24 | Other: Observational, no intervention<br>* No intervention involved<br>|
| Survey<br>N=600 | Other: Observational, no intervention<br>* No intervention involved<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Survey results, cognitive interviews, and validation | Local and national survey results, cognitive interviews and validation of DHI | Within 12 months of completion of analysis of surveys | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Focus group results and conceptual model | Descriptive focus group results regarding health views. Outline of the preliminary conceptual model | Within 12 months of completion of focus groups | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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health status