Developing a Down Syndrome Health Instrument

Mass General Brigham

Status: Completed

Conditions: Down Syndrome; Health, Subjective

Treatments: Other: Observational, no intervention

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT04631237

2020P000213

Details and patient eligibility

About

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.

Enrollment: 542 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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.

Trial design

542 participants in 3 patient groups

Focus Groups

Description:

N=52

Treatment:

Other: Observational, no intervention

Cognitive Interviews

Description:

N=24

Treatment:

Other: Observational, no intervention

Survey

Description:

N=542

Treatment:

Other: Observational, no intervention