Down Syndrome, Health, Subjective
Conditions
Keywords
health status
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.
Interventions
No intervention involved
Sponsors
Massachusetts General Hospital
National Institutes of Health (NIH)
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of Completed Surveys for Validation Analysis | 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 |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Number of Focus Group Participants Who Participated to Make the Conceptual Model | At the time of focus group completion | Descriptive focus group results regarding health views. Outline of the preliminary conceptual model |
| Number of Completed Cognitive Interviews | At the time of cognitive interview | — |
Countries
United States
Contacts
PRINCIPAL_INVESTIGATORSTEPHANIE L SANTORO, MD
MGH
Participant flow
Pre-assignment details
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.
Baseline characteristics
| Characteristic | — |
|---|---|
| Age, Categorical <=18 years | 0 Participants |
| Age, Categorical >=65 years | 0 Participants |
| Age, Categorical Between 18 and 65 years | 688 Participants |
| Ethnicity (NIH/OMB) Hispanic or Latino | 33 Participants |
| Ethnicity (NIH/OMB) Not Hispanic or Latino | 36 Participants |
| Ethnicity (NIH/OMB) Unknown or Not Reported | 28 Participants |
| Race (NIH/OMB) American Indian or Alaska Native | 1 Participants |
| Race (NIH/OMB) Asian | 13 Participants |
| Race (NIH/OMB) Black or African American | 18 Participants |
| Race (NIH/OMB) More than one race | 11 Participants |
| Race (NIH/OMB) Native Hawaiian or Other Pacific Islander | 4 Participants |
| Race (NIH/OMB) Unknown or Not Reported | 157 Participants |
| Race (NIH/OMB) White | 546 Participants |
| Sex: Female, Male Female | 23 Participants |
| Sex: Female, Male Male | 5 Participants |
Adverse events
| Event type | EG000 affected / at risk | EG001 affected / at risk | EG002 affected / at risk |
|---|---|---|---|
| deaths Total, all-cause mortality | 0 / 28 | 0 / 42 | 0 / 542 |
| other Total, other adverse events | 0 / 28 | 0 / 42 | 0 / 542 |
| serious Total, serious adverse events | 0 / 28 | 0 / 42 | 0 / 542 |
Outcome results
None listed