This research project is in progress. PCORI will post the research findings on this page within 90 days after the results are final.
What is the research about?
Down syndrome, or DS, is a rare genetic condition that causes intellectual disability. People with DS often have hearing loss, poor vision, sleep apnea, and other health problems. Specialty clinics in 32 states can help families of patients with DS get recommended tests and treatments. But not all families have access to a DS clinic, and not all doctors know what types of care people with DS need.
In this study, the research team is testing a website that creates personalized reports for families of patients with DS and letters for their doctors to help patients get recommended screening tests.
Who can this research help?
Health systems and clinic administrators, as well as organizations that support families of people with DS, can use the study results as they consider ways to improve health screening for people with DS.
What is the research team doing?
The research team is recruiting families who have a child with DS who is age one or older and who do not live near a DS clinic. The team is assigning half of the families by chance to use Down Syndrome Clinic to You, a website that asks questions about the child’s health. The website produces a personalized checklist for the families and a letter for their doctors. Both documents suggest tests and treatment options based on the patient’s needs and medical guidelines that doctors use for recommendations about when and how to screen for health problems. Guidelines are based on research that compares the benefits and harms of different tests and treatments. The other families in the study get care from their doctors as usual.
The research team is following up with families in both groups to ask whether their child with DS received recommended screening tests. In addition, the team is asking parents about their and their child’s quality of life and about families’ experiences using the reports.
After the study ends, families who received regular care from their doctors will be able to use the website.
Parents, primary care doctors, and experts in DS are working with the research team to plan the study and design the website and reports.
Research methods at a glance
- 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