Developing a Down Syndrome Health Instrument

NCT04631237 | Completed Results

• 1 other identifier: 2020P000213
• Study Type: observational
• Target: 758
• Locations: 1 country
• Sites: 1

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.

Conditions

Down Syndrome; Health, Subjective

Keywords

health status

Outcome Measures

Primary Outcomes (1)

• Number of Completed Surveys for Validation Analysis

  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 Outcomes (2)

• Number of Focus Group Participants Who Participated to Make the Conceptual Model

  At the time of focus group completion

• Number of Completed Cognitive Interviews

  At the time of cognitive interview

Study Arms (3)

Focus Groups

N=52

Other: Observational, no intervention

Cognitive Interviews

N=24

Other: Observational, no intervention

Survey

N=542

Other: Observational, no intervention

Interventions

Observational, no intervention OTHER

No intervention involved

Cognitive Interviews; Focus Groups; Survey

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Primary caregivers and individuals with DS

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Massachusetts General Hospital: lead
• National Institutes of Health (NIH): collaborator

Study Sites (1)

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

Location

Related Publications (12)

• 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.

  PMID: 34781710 RESULT

• 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.

  PMID: 35676858 RESULT

• 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.

  PMID: 36624557 RESULT

• 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.

  PMID: 36650105 RESULT

• 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.

  PMID: 37183579 RESULT

• 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.

  PMID: 39999870 RESULT

• 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.

  PMID: 40391503 RESULT

• 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.

  PMID: 40712746 RESULT

• 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.

  PMID: 40937636 RESULT

• Santoro SL, Nichols D, Witt M, Oreskovic NM. Daily Activities, Exercise and Endurance in Down Syndrome. Am J Med Genet A. 2026 Mar;200(3):592-605. doi: 10.1002/ajmg.a.64283. Epub 2025 Oct 16.

  PMID: 41098034 RESULT

• Krell K, Witt M, Santoro SL. Caregivers' Perspectives on Medical Management and Its Helpfulness in Down Syndrome. Am J Med Genet A. 2026 Apr;200(4):835-845. doi: 10.1002/ajmga.70006. Epub 2025 Nov 27.

  PMID: 41306073 DERIVED

• 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. 2026 Feb;289:114888. doi: 10.1016/j.jpeds.2025.114888. Epub 2025 Nov 4.

  PMID: 41192789 DERIVED

MeSH Terms

Conditions

Down Syndrome

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn

Results Point of Contact

• Title: Stephanie L. Santoro, MD
• Organization: Massachusetts General Hospital

ssantoro3@mgh.harvard.edu

6177261561

Study Officials

• STEPHANIE L SANTORO, MD

  MGH

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor of Pediatrics, Clinical Geneticist

Study Record Dates

• First Submitted: October 22, 2020
• First Posted: November 17, 2020
• Study Start: April 3, 2020
• Primary Completion: March 31, 2025
• Study Completion: March 31, 2025
• Last Updated: April 27, 2026
• Results First Posted: April 27, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)