Developing a Down Syndrome Health Instrument

NCT ID: NCT04631237

Last Updated: 2026-02-05

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

542 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-04-03

Study Completion Date

2025-03-31

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.

Detailed Description

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Conditions

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Down Syndrome Health, Subjective

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Focus Groups

N=52

Observational, no intervention

Intervention Type OTHER

No intervention involved

Cognitive Interviews

N=24

Observational, no intervention

Intervention Type OTHER

No intervention involved

Survey

N=542

Observational, no intervention

Intervention Type OTHER

No intervention involved

Interventions

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Observational, no intervention

No intervention involved

Intervention Type OTHER

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.
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Institutes of Health (NIH)

NIH

Sponsor Role collaborator

Massachusetts General Hospital

OTHER

Sponsor Role lead

Responsible Party

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Stephanie Santoro

Assistant Professor of Pediatrics, Clinical Geneticist

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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STEPHANIE L SANTORO, MD

Role: PRINCIPAL_INVESTIGATOR

MGH

Locations

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Massachusetts General Hospital

Boston, Massachusetts, United States

Site Status

Countries

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United States

References

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Santoro SL, Peters MLB. K Awards: The Journey of a Thousand Steps. Ann Intern Med. 2021 Dec;174(12):1735-1737. doi: 10.7326/M21-2692. Epub 2021 Nov 16. No abstract available.

Reference Type RESULT
PMID: 34781710 (View on PubMed)

Santoro SL, Donelan K, Constantine M. Proxy-report in individuals with intellectual disability: A scoping review. J Appl Res Intellect Disabil. 2022 Sep;35(5):1088-1108. doi: 10.1111/jar.13013. Epub 2022 Jun 8.

Reference Type RESULT
PMID: 35676858 (View on PubMed)

Santoro SL, Cabrera MJ, Haugen K, Krell K, Merker VL. Indicators of health in Down syndrome: A virtual focus group study with patients and their parents. J Appl Res Intellect Disabil. 2023 Mar;36(2):354-365. doi: 10.1111/jar.13065. Epub 2023 Jan 9.

Reference Type RESULT
PMID: 36624557 (View on PubMed)

Santoro SL, Cabrera MJ, Co JPT, Constantine M, Haugen K, Krell K, Skotko BG, Winickoff JP, Donelan K. Health in Down syndrome: creating a conceptual model. J Intellect Disabil Res. 2023 Apr;67(4):323-351. doi: 10.1111/jir.13007. Epub 2023 Jan 17.

Reference Type RESULT
PMID: 36650105 (View on PubMed)

Santoro SL, Haugen K, Donelan K, Skotko BG. Global health measures from a National Down Syndrome Registry. Am J Med Genet A. 2023 Aug;191(8):2092-2099. doi: 10.1002/ajmg.a.63243. Epub 2023 May 14.

Reference Type RESULT
PMID: 37183579 (View on PubMed)

Shaffer M, Co JPT, Donelan K, Skotko BG, Torres A, Winickoff JP, Santoro SL. Successful (and Unsuccessful) Recruitment Approaches and Participant Loss in a Down Syndrome Survey. Am J Intellect Dev Disabil. 2025 Mar 1;130(2):131-145. doi: 10.1352/1944-7558-130.2.131.

Reference Type RESULT
PMID: 39999870 (View on PubMed)

Witt M, Shaffer M, Torres A, Santoro SL. Research Letter: Recruiting a Diverse Cohort in Genetics Research-Reflecting on Demographic Representation in a Down Syndrome Survey. Am J Med Genet A. 2025 Oct;197(10):e64111. doi: 10.1002/ajmg.a.64111. Epub 2025 May 20. No abstract available.

Reference Type RESULT
PMID: 40391503 (View on PubMed)

Witt M, Palumbo M, Santoro SL. Bothersome and Impactful Health Conditions in Children and Adolescents with Down Syndrome. J Pediatr. 2025 Dec;287:114748. doi: 10.1016/j.jpeds.2025.114748. Epub 2025 Jul 23.

Reference Type RESULT
PMID: 40712746 (View on PubMed)

Witt M, Krell K, Santoro SL. Caregiver Interviews Regarding Health in Down Syndrome. Am J Med Genet A. 2026 Feb;200(2):300-307. doi: 10.1002/ajmg.a.64253. Epub 2025 Sep 12.

Reference Type RESULT
PMID: 40937636 (View on PubMed)

Santoro SL, Nichols D, Witt M, Oreskovic NM. Daily Activities, Exercise and Endurance in Down Syndrome. Am J Med Genet A. 2025 Oct 16:e64283. doi: 10.1002/ajmg.a.64283. Online ahead of print.

Reference Type RESULT
PMID: 41098034 (View on PubMed)

Krell K, Witt M, Santoro SL. Caregivers' Perspectives on Medical Management and Its Helpfulness in Down Syndrome. Am J Med Genet A. 2025 Nov 27:e70006. doi: 10.1002/ajmga.70006. Online ahead of print.

Reference Type DERIVED
PMID: 41306073 (View on PubMed)

Santoro SL, Campbell A, Cabrera M, Co JPT, Donelan K, Haugen K, Krell K, Shaffer M, Skotko BG, Winickoff JP, Witt M, Constantine M. Development and Validation of a Health Measure for Down Syndrome. J Pediatr. 2025 Nov 4;289:114888. doi: 10.1016/j.jpeds.2025.114888. Online ahead of print.

Reference Type DERIVED
PMID: 41192789 (View on PubMed)

Provided Documents

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Document Type: Informed Consent Form: Study information sheet

View Document

Document Type: Informed Consent Form: Online consent form

View Document

Other Identifiers

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2020P000213

Identifier Type: -

Identifier Source: org_study_id

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