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| Name | Class |
|---|---|
| National Institutes of Health (NIH) | NIH |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Focus Groups | N=52 |
| |
| Cognitive Interviews | N=24 |
| |
| Survey | N=542 |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Observational, no intervention | Other | No intervention involved |
|
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| Number of Focus Group Participants Who Participated to Make the Conceptual Model | 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 |
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Inclusion Criteria:
Exclusion Criteria:
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Primary caregivers and individuals with DS
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| Name | Affiliation | Role |
|---|---|---|
| STEPHANIE L SANTORO, MD | MGH | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Massachusetts General Hospital | Boston | Massachusetts | 02114 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 34781710 | Result | 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. | |
| 35676858 | 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. |
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Some individuals who started the survey did not elect to complete it / reach the end of the survey. Only participants who had made it through the whole survey / to the end were included in analysis.
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| ID | Title | Description |
|---|---|---|
| FG000 | Focus Groups | N=28 Observational, no intervention: No intervention involved |
| FG001 | Cognitive Interviews | N=42 Observational, no intervention: No intervention involved |
| FG002 | Survey | N=542 Observational, no intervention: No intervention involved |
| Title | Milestones | Reasons Not Completed | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
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| ID | Title | Description |
|---|---|---|
| BG000 | Focus Groups | N=28 Observational, no intervention: No intervention involved |
| BG001 | Cognitive Interviews | N=40 Observational, no intervention: No intervention involved |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Categorical | Count of Participants |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | 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 | Only those in the Survey Arm (Group 3) participated in the survey for validation | Posted | Count of Participants | Participants | At the time of survey completion |
|
1 year
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Focus Groups | N=28 Observational, no intervention: No intervention involved | 0 |
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Stephanie L. Santoro, MD | Massachusetts General Hospital | 6177261561 | ssantoro3@mgh.harvard.edu |
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot | Yes | No | No | Study Protocol | Jan 4, 2024 | Feb 12, 2026 | Prot_002.pdf |
| SAP | No | Yes | No | Statistical Analysis Plan | Dec 16, 2024 | Feb 12, 2026 | SAP_003.pdf |
| ICF | No | No | Yes | Informed Consent Form: Study information sheet | Jan 17, 2024 | Feb 3, 2026 | ICF_000.pdf |
| ICF | No | No | Yes | Informed Consent Form: Online consent form | Nov 1, 2024 | Feb 3, 2026 | ICF_001.pdf |
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| ID | Term |
|---|---|
| D004314 | Down Syndrome |
| ID | Term |
|---|---|
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
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| At the time of cognitive interview |
| 36624557 | 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. |
| 36650105 | 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. |
| 37183579 | 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. |
| 39999870 | 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. |
| 40391503 | 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. |
| 40712746 | 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. |
| 40937636 | 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. |
| 41098034 | 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. |
| 42260322 | Derived | Witt ME, Zeng C, Santoro SL. The Prevalence of Co-Occurring Conditions and an Exploration of Social Factors Influencing Health in Down Syndrome. Am J Med Genet A. 2026 Jun 8. doi: 10.1002/ajmg.a.70219. Online ahead of print. |
| 41306073 | Derived | 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. |
| 41192789 | 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. |
| BG002 | Survey | N=542 Observational, no intervention: No intervention involved |
| BG003 | Total | Total of all reporting groups |
| Participants |
|
| Sex: Female, Male | Some participants left this survey item blank | Count of Participants | Participants |
|
| Ethnicity (NIH/OMB) | Count of Participants | Participants |
|
| Race (NIH/OMB) | Count of Participants | Participants |
|
| OG002 |
| Survey |
N=542 Observational, no intervention: No intervention involved |
|
|
| Secondary | Number of Focus Group Participants Who Participated to Make the Conceptual Model | Descriptive focus group results regarding health views. Outline of the preliminary conceptual model | Only those in focus groups (Group 1) participated in the focus groups | Posted | Count of Participants | Participants | At the time of focus group completion |
|
|
|
| Secondary | Number of Completed Cognitive Interviews | Only those in the cognitive interviews (Group 2) participated in the interviews | Posted | Count of Participants | Participants | At the time of cognitive interview |
|
|
|
| 28 |
| 0 |
| 28 |
| 0 |
| 28 |
| EG001 | Cognitive Interviews | N=42 Observational, no intervention: No intervention involved | 0 | 42 | 0 | 42 | 0 | 42 |
| EG002 | Survey | N=542 Observational, no intervention: No intervention involved | 0 | 542 | 0 | 542 | 0 | 542 |
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| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| Between 18 and 65 years |
|
| >=65 years |
|
| Male |
|
| Not Hispanic or Latino |
|
| Unknown or Not Reported |
|
| Asian |
|
| Native Hawaiian or Other Pacific Islander |
|
| Black or African American |
|
| White |
|
| More than one race |
|
| Unknown or Not Reported |
|