An interventional study of Down Syndrome Clinic to You (DSC2U) in Down Syndrome, sponsored by Massachusetts General Hospital. Completed at 1 site in United States. Open to participants aged 1 Year and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2022-06-14.
Sponsored by Massachusetts General Hospital · Not applicable, Interventional, and Health services research
The investigators conducted a national two-arm, randomized controlled trial of caregivers of individuals with DS to assess the efficacy of DSC2U in assuring adherence to evidence-based guidelines. The research plan was approved by the Partners Human Research Committee.
Background: The overwhelming majority of people with Down syndrome do not have access to specialty clinics, a disparity resulting in delayed or missed diagnoses and significant untreated co-morbidities. To meet this critical gap in needs, the investigators created "Down Syndrome Clinic to You" (DSC2U), a novel, web-based tool created for caregivers of individuals with Down syndrome, which generates personalized recommendations for the caregiver and the patient's primary care provider (PCP).
Methods: In a national, randomized controlled trial of 230 caregivers who had children or dependents with Down syndrome without access to a Down syndrome specialist, 117 were randomized to receive DSC2U and 113 to receive usual-care. The primary outcome was adherence to five health evaluations indicated by national guidelines for Down syndrome: celiac screen, sleep study, thyroid test, audiogram, and ophthalmology evaluation.
432 studies on the registry are indexed under Down Syndrome; 100 are open to participants now.
This study's enrollment of 281 is above the median of 36 across 283 interventional studies indexed under Down Syndrome.
Browse Down Syndrome studies →Massachusetts General Hospital is the lead sponsor of 2,536 studies on the registry; 446 are open to participants now.
Of its 214 completed or terminated interventional studies of FDA-regulated products, 161 (75%) have results posted.
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Potential eligible participants were directed to the study website (www.dsc2u.org) for the eligibility screening questionnaire in English and Spanish and online consent. After selecting a language preference (English or Spanish), in addition to questions about the child's or dependent's biological sex, race and ethnicity, the eligibility screening questions included:
Inclusion Criteria:
Exclusion Criteria:
DS occurs naturally and proportionally in all races and ethnicities, so the study's population estimates were proportional to the racial/ethnic distribution of the U.S. population, as reported in the 2010 U.S. Census. To achieve commensurate representation in the study, the investigators applied a quota system in offering enrollment using the race and ethnicity of the individual with DS (not the caregiver).
The investigators' plan was to enroll participants such that there were: no more than 144 white individuals with DS, no fewer than 25 Hispanic or Latino/Latina individuals with DS, and no fewer than 20 black individuals with DS. The team also planned to enroll no more than 120 individuals with DS of one sex.
The participants randomized to the intervention group completed the DSC2U questionnaire, and received online access to a personalized Caregiver Checklist and PCP plan. Caregivers were encouraged to share and discuss the PCP plan at their next wellness visit with the PCPs.
Other: Down Syndrome Clinic to You (DSC2U)
The participants randomized to the control group, received usual care for 7 months, after their scheduled PCP appointment. They did not receive DSC2U during these 7 months, but did receive the online, personalized health assessment tool (DSC2U) at the end of the 7 months, after the primary and secondary outcomes were measured.
DSC2U is a web-based tool for families to get up-to-date, personalized health and wellness information, based on national guidelines and expert consensus, for a person with Down syndrome.
Number of Participants With Indicated Evaluations That Were Completed or Recommended by the PCP
Adherence to the five health evaluations indicated by national guidelines for Down syndrome. The five health evaluations included: celiac screen, sleep study, thyroid test, audiogram, and ophthalmology evaluation.
Time frame: 7 months after the participant's scheduled PCP visit
Questionnaire: Caregiver Experience With the Intervention
Measure the caregiver experience with the PCP using a 10-point Likert scale with "10" representing "most helpful" and "0" representing "least helpful." This questionnaire was only distributed to those in the Intervention arm because it assessed their experience with the Intervention itself.
Time frame: 2 weeks and 7 months after their scheduled PCP visit and with the intervention
Quality of Life Outcomes for Person With Down Syndrome: 2-week Follow-up
PedsQL 4.0 parent-proxy and PedsQL 2.0 Family Impact Module (https://www.pedsql.org/) were used to assess for qualify of life for people with Down syndrome and their caregivers. Here we report the change from baseline on the subdomains of these assessments. The subdomains on PedsQL 4.0 parent proxy were Psychosocial and Physical. The subdomains on the Family Impact Module (FIM) were Parental and Family scores. For both instruments we also report the total/summary scores. PedsQL scoring instructions were used. These are all scaled from 0 (Low) to 100 (High). Higher scores indicate a better quality of life. Baseline: (Mean±SD); Change: (Mean±SE)
Time frame: Change from baseline at the 2-week follow-up time point
Quality of Life Outcomes for Person With Down Syndrome: 7-month Follow-up
PedsQL 4.0 parent-proxy and PedsQL 2.0 Family Impact Module (https://www.pedsql.org/) were used to assess for qualify of life for people with Down syndrome and their caregivers. Here we report the change from baseline on the subdomains of these assessments. The subdomains on PedsQL 4.0 parent proxy were Psychosocial and Physical. The subdomains on the Family Impact Module (FIM) were Parental and Family scores. For both instruments we also report the total/summary scores. PedsQL scoring instructions were used. These are all scaled from 0 (Low) to 100 (High). Higher scores indicate a better quality of life. Baseline: (Mean±SD); Change: (Mean±SE)
Time frame: 7-month follow-up survey
PCP Experience With the Intervention (Down Syndrome Clinic to You)
These measurements were gathered by self-administered mail survey to the PCPs who had patients participating in the Intervention Group. A total of 94 PCPs who had patients in the Intervention Arm responded to this question: "Did \[name\]'s caregiver give you a copy of the primary care plan before and/or during the wellness visit?" (Note: this survey was not mailed to the PCPs who had patients participating in the Control group as the survey was a measure of experience with the Intervention itself.)
Time frame: 2 weeks after the scheduled PCP visit
Participants were recruited through online social media postings from MassGeneral Hospital and Down syndrome (DS) non-profit organizations around the U.S. The recruitment period started on October 3, 2017 and end on September 30, 2018. Additional recruitment measures were implemented to enroll a demographically diverse sample. These included contacting minority working groups of DS organizations and translated all recruitment materials in Spanish.
| Milestone | Intervention Group | Control Group |
|---|---|---|
| Started | 117 | 113 |
| Completed | 115 | 113 |
| Not completed | 2 | 0 |
| Withdrew: Protocol violation | 1 | 0 |
| Withdrew: Discontinued participation because uncomfortable sharing information | 1 | 0 |
| Milestone | Intervention Group | Control Group |
|---|---|---|
| Started | 115 | 113 |
| Completed | 113 | 113 |
| Not completed | 2 | 0 |
| Withdrew: Did not complete pcp visit | 2 | 0 |
| Milestone | Intervention Group | Control Group |
|---|---|---|
| Started | 113 | 113 |
| Completed | 101 | 108 |
| Not completed | 12 | 5 |
| Withdrew: Not responsive | 7 | 5 |
| Withdrew: Lost to follow-up | 5 | 0 |
| Milestone | Intervention Group | Control Group |
|---|---|---|
| Started | 114 | 113 |
| Completed | 94 | 88 |
| Not completed | 20 | 25 |
| Withdrew: Not responsive | 20 | 25 |
| Milestone | Intervention Group | Control Group |
|---|---|---|
| Started | 114 | 113 |
| Completed | 103 | 110 |
| Not completed | 11 | 3 |
| Withdrew: Lost to follow-up | 11 | 3 |
Adherence to the five health evaluations indicated by national guidelines for Down syndrome. The five health evaluations included: celiac screen, sleep study, thyroid test, audiogram, and ophthalmology evaluation.
| participants | Intervention Group | Control Group |
|---|---|---|
| 0 indicated evaluations recommend/complete | 69 | 79 |
| 1 indicated evaluations recommend/complete | 36 | 31 |
| 2 indicated evaluations recommend/complete | 10 | 3 |
| 3 indicated evaluations recommend/complete | 2 | 0 |
Measure the caregiver experience with the PCP using a 10-point Likert scale with "10" representing "most helpful" and "0" representing "least helpful." This questionnaire was only distributed to those in the Intervention arm because it assessed their experience with the Intervention itself.
| Participants | 2-week Follow-up Survey for Caregivers in Intervention Arm | 7-month Follow-up Survey for Caregivers in Intervention Arm |
|---|---|---|
| Did you have any problems viewing, downloading, or printing the Caregiver Checklist? — No | 91 | 0 |
| Did you have any problems viewing, downloading, or printing the Caregiver Checklist? — Yes, somewhat | 5 | 0 |
| Did you have any problems viewing, downloading, or printing the Caregiver Checklist? — Yes, definitely | 5 | 0 |
| Did the caregiver checklist explain the recommendations in a way that was easy for you to understand — No | 3 | 0 |
| Did the caregiver checklist explain the recommendations in a way that was easy for you to understand — Yes, somewhat | 11 | 0 |
| Did the caregiver checklist explain the recommendations in a way that was easy for you to understand — Yes, definitely | 87 | 0 |
| Did you use the links to information that were included in the Caregiver Checklist? — No | 24 | 0 |
| Did you use the links to information that were included in the Caregiver Checklist? — Yes, somewhat | 39 | 0 |
| Did you use the links to information that were included in the Caregiver Checklist? — Yes, definitely | 38 | 0 |
| Did you discuss the Caregiver Checklist or any of the recommendations with the [name]? — No | 58 | 0 |
| Did you discuss the Caregiver Checklist or any of the recommendations with the [name]? — Yes, somewhat | 19 | 0 |
| Did you discuss the Caregiver Checklist or any of the recommendations with the [name]? — Yes, definitely | 24 | 0 |
| Would you recommend the Caregiver Checklist to another caregiver? — No | 0 | 1 |
| Would you recommend the Caregiver Checklist to another caregiver? — Yes, somewhat | 17 | 26 |
| Would you recommend the Caregiver Checklist to another caregiver? — Yes, definitely | 84 | 76 |
PedsQL 4.0 parent-proxy and PedsQL 2.0 Family Impact Module (https://www.pedsql.org/) were used to assess for qualify of life for people with Down syndrome and their caregivers. Here we report the change from baseline on the subdomains of these assessments. The subdomains on PedsQL 4.0 parent proxy were Psychosocial and Physical. The subdomains on the Family Impact Module (FIM) were Parental and Family scores. For both instruments we also report the total/summary scores. PedsQL scoring instructions were used. These are all scaled from 0 (Low) to 100 (High). Higher scores indicate a better quality of life. Baseline: (Mean±SD); Change: (Mean±SE)
| score on a scale | Intervention Group | Control Group |
|---|---|---|
| baseline score on PedsQL Psychosocial Health Score | 69.8 ± 14.7 | 71.2 ± 13.3 |
| Change from baseline at 2 weeks on PedsQL Psychosocial Health Score | -3.2 ± 1.0 | -2.3 ± 0.9 |
| baseline score on PedsQL Physical | 63.4 ± 25.4 | 62.9 ± 28.6 |
| change from baseline score at 2 weeks on PedsQL Physical Functioning Score | -0.2 ± 1.9 | -0.8 ± 1.9 |
| baseline score on PedsQL Total Scale | 67.7 ± 13.6 | 68.4 ± 15.5 |
| change from baseline score at 2 weeks on PedsQL Total Scale Score | -2.0 ± 1.1 | -1.6 ± 1.0 |
| baseline score for PedsQL FIM Parental | 68.6 ± 18.2 | 67.4 ± 19.6 |
| change in baseline score at 2 weeks on PedsQL FIM Parental HRQL Summary Score | -2.4 ± 1.3 | -2.3 ± 1.2 |
| baseline score on PedsQL FIM Family | 66.2 ± 20.7 | 65.2 ± 24.6 |
| change in baseline score at 2 weeks for PedsQL FIM Family Functioning Summary Score | -0.8 ± 1.5 | -1.8 ± 1.5 |
| baseline score for PedsQL FIM Total Scale Score | 65.8 ± 17.6 | 64.9 ± 20.3 |
| change in baseline score for PedsQL FIM Total Scale Score | -0.7 ± 1.1 | -1.8 ± 1.1 |
PedsQL 4.0 parent-proxy and PedsQL 2.0 Family Impact Module (https://www.pedsql.org/) were used to assess for qualify of life for people with Down syndrome and their caregivers. Here we report the change from baseline on the subdomains of these assessments. The subdomains on PedsQL 4.0 parent proxy were Psychosocial and Physical. The subdomains on the Family Impact Module (FIM) were Parental and Family scores. For both instruments we also report the total/summary scores. PedsQL scoring instructions were used. These are all scaled from 0 (Low) to 100 (High). Higher scores indicate a better quality of life. Baseline: (Mean±SD); Change: (Mean±SE)
| scores on scales | Intervention Group | Control Group |
|---|---|---|
| baseline for PedsQL | 69.8 ± 14.7 | 71.2 ± 13.3 |
| Change from baseline for PedsQL Psychosocial Health Score | -2.3 ± 1.1 | 0.4 ± 1.1 |
| baseline for PedsQL Physical Functioning Score | 63.4 ± 25.4 | 62.9 ± 28.6 |
| Change from baseline for PedsQL Physical Functioning Score | 6.0 ± 1.9 | 6.3 ± 2.5 |
| baseline for PedsQL Total | 67.7 ± 13.6 | 68.4 ± 15.5 |
| Change from baseline for PedsQL Total Scale Score | 0.6 ± 1.1 | 2.5 ± 1.1 |
| baseline for PedsQL FIM Parental HRQL Summary Score | 68.6 ± 18.2 | 67.4 ± 19.6 |
| Change from baseline for PedsQL FIM Parental HRQL Summary Score | -4.0 ± 1.3 | -1.2 ± 1.3 |
| baseline for PedsQL FIM Family Functioning Summary Score | 66.2 ± 20.7 | 65.2 ± 24.6 |
| Change from baseline for PedsQL FIM Family Functioning Summary Score | -2.0 ± 1.4 | 0.3 ± 1.4 |
| baseline for PedsQL FIM Total Scale Score | 65.8 ± 17.6 | 64.9 ± 20.3 |
| Change from baseline for PedsQL FIM Total Scale Score | -2.3 ± 1.1 | -0.4 ± 1.1 |
These measurements were gathered by self-administered mail survey to the PCPs who had patients participating in the Intervention Group. A total of 94 PCPs who had patients in the Intervention Arm responded to this question: "Did \[name\]'s caregiver give you a copy of the primary care plan before and/or during the wellness visit?" (Note: this survey was not mailed to the PCPs who had patients participating in the Control group as the survey was a measure of experience with the Intervention itself.)
| Participants | Intervention Group |
|---|---|
| No | 55 |
| Yes, at the visit | 25 |
| Yes, before the visit | 11 |
| missing | 3 |
Collected over 1 year. Non-serious events are listed at a 0% frequency threshold.
| Group | Deaths | Serious | Other |
|---|---|---|---|
| Intervention Group | 0/117 (0%) | 0/117 (0%) | 0/117 (0%) |
| Control Group | 0/113 (0%) | 0/113 (0%) | 0/113 (0%) |
Baseline characteristics of people with Down syndrome
| Age, Customized(Participants) | Intervention Group | Control Group | Total |
|---|---|---|---|
| < 2 years | 10 | 8 | 18 |
| 2 to 4 years | 29 | 28 | 57 |
| 5 to 7 years | 17 | 16 | 33 |
| 8 to 12 years | 24 | 24 | 48 |
| 13 to 17 years | 12 | 11 | 23 |
| 18 to 25 years | 13 | 11 | 24 |
| 26 years or older | 12 | 15 | 27 |
| Sex: Female, Male(Participants) | Intervention Group | Control Group | Total |
|---|---|---|---|
| Female | 54 | 52 | 106 |
| Male | 63 | 61 | 124 |
| Ethnicity (NIH/OMB)(Participants) | Intervention Group | Control Group | Total |
|---|---|---|---|
| Hispanic or Latino | 15 | 13 | 28 |
| Not Hispanic or Latino | 101 | 98 | 199 |
| Unknown or Not Reported | 1 | 2 | 3 |
| Race (NIH/OMB)(Participants) | Intervention Group | Control Group | Total |
|---|---|---|---|
| American Indian or Alaska Native | 1 | 0 | 1 |
| Asian | 3 | 1 | 4 |
| Native Hawaiian or Other Pacific Islander | 1 | 0 | 1 |
| Black or African American | 5 | 7 | 12 |
| White | 101 | 100 | 201 |
| More than one race | 5 | 3 | 8 |
| Unknown or Not Reported | 1 | 2 | 3 |
| Primary health care insurance(Number of participants) | Intervention Group | Control Group | Total |
|---|---|---|---|
| Public (e.g. Medicaid) | 32 | 29 | 61 |
| Private (e.g. Blue Cross) | 84 | 83 | 167 |
| None (e.g. self-pay) | 1 | 1 | 2 |
Documents are hosted by the registry — open the source record to download them.
Plan to share: Yes — The investigators will submit their complete data set to PCORI in accordance with their guidelines.
Supporting information: Study protocol, Sap, Icf, Csr, Analytic code
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