Developing a Down Syndrome Health Instrument

April 6, 2026 updated by: Stephanie Santoro, Massachusetts General Hospital
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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Actual)

758

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Massachusetts
      • Boston, Massachusetts, United States, 02114
        • Massachusetts General Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Primary caregivers and individuals with DS

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
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=542
Other: Observational, no intervention
No intervention involved

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of Completed Surveys for Validation Analysis
Time Frame: At the time of survey completion
Local and national survey results, cognitive interviews and validation of Down syndrome health measure (DSHM) using psychometric analysis and factor analysis
At the time of survey completion

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of Focus Group Participants Who Participated to Make the Conceptual Model
Time Frame: At the time of focus group completion
Descriptive focus group results regarding health views. Outline of the preliminary conceptual model
At the time of focus group completion
Number of Completed Cognitive Interviews
Time Frame: At the time of cognitive interview
At the time of cognitive interview

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Massachusetts General Hospital

Collaborators

National Institutes of Health (NIH)

Investigators

  • Principal Investigator: STEPHANIE L SANTORO, MD, MGH

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 3, 2020

Primary Completion (Actual)

March 31, 2025

Study Completion (Actual)

March 31, 2025

Study Registration Dates

First Submitted

October 22, 2020

First Submitted That Met QC Criteria

November 10, 2020

First Posted (Actual)

November 17, 2020

Study Record Updates

Last Update Posted (Actual)

April 27, 2026

Last Update Submitted That Met QC Criteria

April 6, 2026

Last Verified

April 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2020P000213

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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