What was the research about?
Down syndrome is a genetic condition that affects cognitive ability and physical features. People with Down syndrome often have other health problems. Clinics that specialize in Down syndrome help people get recommended care for these problems, such as eye exams or sleep studies. But not all people with Down syndrome have access to these clinics.
In this study, the research team tested a web-based platform for caregivers to help people with Down syndrome get personal wellness recommendations. The team looked at the use of five services: eye and hearing exams, screenings for sleep apnea and celiac disease, and a thyroid function test. The platform, called Down Syndrome Clinic to You, or DSC2U,
- Collects health history and current symptoms
- Creates personalized checklists for caregivers
- Creates reports of recommended services based on medical guidelines that caregivers can share with their primary care providers, or PCPs
The research team compared caregivers who were offered DSC2U with caregivers who got usual care.
What were the results?
After seven months, compared with usual care, caregivers who were offered DSC2U reported a 1.6-times increase in the number of indicated services completed or recommended. Quality of life for caregivers of people with Down Syndrome didn’t differ between caregivers who were offered DSC2U and those who got usual care.
Caregivers and PCPs reported high satisfaction with DSC2U.
Who was in the study?
The study included 230 caregivers with a child or adult dependent with Down syndrome. Of the caregivers, 91 percent were white, 5 percent were black, 2 percent were more than one race, and 1 percent were Asian; 11 percent were Hispanic or Latino. The average age was 47, and 96 percent were women. Among people with Down syndrome, the average age was 12, and 54 percent were boys. Families lived in areas not served by a Down syndrome clinic.
What did the research team do?
The research team assigned caregivers by chance to use DSC2U or not.
Caregivers completed surveys at the start of the study and two and seven months after a well visit with the local PCP. The survey asked about whether the person with Down syndrome got the indicated recommendations or services. It also asked about quality of life and satisfaction with DSC2U. Two weeks after the well visit, PCPs reported on their satisfaction with DSC2U.
Caregivers, PCPs, and others with expertise in Down syndrome helped plan the study and design DSC2U.
What were the limits of the study?
Most caregivers in the study were white and had college degrees. Findings may differ for caregivers from other backgrounds.
Future research could test DSC2U with people from other backgrounds.
How can people use the results?
Caregivers and PCPs can use the platform to improve health screenings for people with Down syndrome.
To determine whether a web-based platform for caregivers, called Down Syndrome Clinic to You (DSC2U), increases adherence to preventive screenings recommended for people with Down syndrome compared with usual care
|Design||Randomized controlled trial|
|Population||230 caregivers with a dependent child or adult with Down syndrome, ages 1 and older, who lived in areas not served by clinics that specialize in Down syndrome|
Primary: number of indicated evaluations recommended by the primary care provider (PCP) or completed by the PCP or a specialist, as reported by caregivers
Secondary: caregiver quality of life, caregiver report of dependent child or adult’s quality of life, caregiver satisfaction with DSC2U, PCP satisfaction with DSC2U
|Timeframe||7-month follow-up for primary outcome|
This randomized controlled trial compared the effect of DSC2U versus usual care on adherence to five nationally recommended healthcare assessments for people with Down syndrome: ophthalmologic and auditory evaluations, obstructive sleep apnea and celiac disease screening, and thyroid function testing.
Researchers randomly assigned caregivers to use DSC2U or receive usual care from their primary care providers (PCPs). DSC2U collected caregiver-reported patient data, including current symptoms and past medical history. DSC2U also generated a personalized caregiver checklist and a plan for the PCP, both of which recommended healthcare assessments based on individual needs. Recommendations were based on Down syndrome guidelines from national sources, including the American Academy of Pediatrics.
The study included 230 caregivers with a dependent child or adult with Down syndrome who lived in areas not served by a clinic that specializes in Down syndrome. Of the caregivers, 91% were white, 5% were black, 2% were more than one race, and 1% were Asian; 11% were Hispanic or Latino. The average caregiver age was 47, and 96% were female. The average age of the people with Down syndrome was 12, and 54% were male.
At baseline and again two weeks and seven months after a primary care well visit, caregivers completed surveys about whether indicated assessments were recommended by the doctor or received. The caregivers also reported on quality of life for themselves and their loved one and on satisfaction with the DSC2U platform if assigned to it. PCPs reported satisfaction with the platform two weeks after the well visit.
Caregivers, PCPs, and others with expertise in Down syndrome helped plan the study and design DSC2U.
After seven months, compared with caregivers of people with Down syndrome who received usual care alone, caregivers who were offered DSC2U had a 1.6-fold increase in the number of indicated assessments that were recommended by their PCP or completed by their PCP or a specialist (p=0.016).
At two weeks and seven months after the primary care visit, caregiver-reported quality of life for caregivers and people with Down syndrome did not differ between caregivers who were offered DSC2U and those who received usual care alone. Caregivers and PCPs reported high satisfaction with DSC2U.
Most caregivers in the study were white and had a four-year college degree or higher. Findings may differ for caregivers from other backgrounds.
Conclusions and Relevance
In this study, the web-based platform for caregivers increased indicated healthcare assessments for people with Down syndrome who did not have access to specialty care.
Future Research Needs
Future research could test DSC2U among diverse populations of people with Down syndrome.
Final Research Report
View this project's final research report.
More to Explore...
DSC2U: Down Syndrome Clinic to You
Massachusetts General Hospital
Results of This Project
Stories and Videos
For People With Down Syndrome, the Best Medical Information is Now Automated
Genevieve Shaw Brown, ABC News, October 27, 2020
This feature article highlights the web-based platform Down Syndrome Clinic to You (DSC2U), which was created through this project to make it easier for people with Down Syndrome and their caregivers to access specialized information and expertise about the health services they need. It also features interviews with Principal Investigator Brian Skotko, MD, MPP, and Cristina Sanchez, one of the initial patients who were enrolled in DSC2U during the trial period.
Peer review of PCORI-funded research helps make sure the report presents complete, balanced, and useful information about the research. It also assesses how the project addressed PCORI’s Methodology Standards. During peer review, experts read a draft report of the research and provide comments about the report. These experts may include a scientist focused on the research topic, a specialist in research methods, a patient or caregiver, and a healthcare professional. These reviewers cannot have conflicts of interest with the study.
The peer reviewers point out where the draft report may need revision. For example, they may suggest ways to improve descriptions of the conduct of the study or to clarify the connection between results and conclusions. Sometimes, awardees revise their draft reports twice or more to address all of the reviewers’ comments.
Peer reviewers commented and the researchers made changes or provided responses. Those comments and responses included the following:
- The reviewers question how the researchers treated missing data, given that there were 12 participants lost to follow-up in the intervention arm compared to 2 in the control arm. The researchers admitted that while they had intended to count these participants as failing to complete the evaluation, this was not done and not considered in the final analyses. When the researchers reran the analyses including the missing cases as incomplete evaluations, they found that the intervention still had significant benefit over the control in participant families completing indicated evaluations. However, this more conservative analysis strategy found that the intervention was not statistically superior to the control in participant families completing nonindicated evaluations.
- The reviewers cautioned the researchers not to overstate the significance of the relative difference in risk ratio between the intervention and control conditions, when the absolute difference in risk ratio in completed evaluations did not reach the clinically meaningful difference established at the beginning of the study. The researchers acknowledged this point but stated that there are instances where the relative difference in risk ratio is more relevant for clinical decisions. Therefore, the researchers presented both risk ratios in the report so that readers could evaluate the significance of the study on both scales.
- The reviewers recommended including the results from the more complicated statistical procedures the researchers used in testing the primary outcomes. The researchers added the significance values for the more complicated tests but chose to not include more of those results because they felt that the t-test results best conveyed the results of the trial since they used a scale that was more meaningful clinically.
Conflict of Interest Disclosures
Patient / Caregiver Partners
- Sandra Baker
- Patricia Bauer
- Jawanda Mast
- Missy Skalvem
- Ben Majewski,
- Maureen Gallagher and Sarah Cullen of the Massachusetts Down Syndrome Congress
Other Stakeholder Partners
- Dr. Ariel Frey
- Dr. Travis Riddell
- Dr. Ashley Lamb
- Dr. Meghan Kiefer
- Dr. Melissa Parisi
- Dr. Marilyn Bull
- Dr. Brian Chicoine
- Dr. Karen Sepucha
Study Registration Information
- Has Results