Developing a Down Syndrome Health Instrument
Study Details
Study Description
Brief Summary
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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Focus Groups N=52 |
Other: Observational, no intervention
No intervention involved
|
| Cognitive Interviews N=24 |
Other: Observational, no intervention
No intervention involved
|
| Survey N=600 |
Other: Observational, no intervention
No intervention involved
|
Outcome Measures
Primary Outcome Measures
- Survey results, cognitive interviews, and validation [Within 12 months of completion of analysis of surveys]
Local and national survey results, cognitive interviews and validation of DHI
Secondary Outcome Measures
- Focus group results and conceptual model [Within 12 months of completion of focus groups]
Descriptive focus group results regarding health views. Outline of the preliminary conceptual model
Eligibility Criteria
Criteria
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
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Able to read and provide informed consent
Exclusion Criteria:
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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.
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Massachusetts General Hospital | Boston | Massachusetts | United States | 02114 |
Sponsors and Collaborators
- Massachusetts General Hospital
- National Institutes of Health (NIH)
Investigators
- Principal Investigator: STEPHANIE L SANTORO, MD, MGH
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- 2020P000213