Study underscores value of Mass General’s Down Syndrome Clinic to You program

BOSTON – A new software program effectively brings the expertise of Massachusetts General Hospital (MGH) specialists to many more patients with Down syndrome (DS), according to a study published today in Genetics in Medicine.  Down Syndrome Clinic to You (DSC2U) is a first-of-its kind online health tool aimed at improving adherence to US national Down syndrome guidelines. This study finds the tool effective. Most caregivers and primary care physicians (PCPs) also reported high satisfaction with it.

The first author of the paper is Jeanhee Chung, MS, MD, primary care physician at MGH. The senior author is Brian Skotko, MD, MPP, director of the Down Syndrome Program and Emma Campbell Endowed Chair on Down Syndrome at MGH.

The study was a national randomized controlled trial of 230 caregivers who had children or dependents with DS but no access to a specialist. Of these, 117 were randomized to receive DSC2U while 113 received usual care. A total of 213 participants completed a seven-month long follow-up evaluation. Those who received DSC2U had a 1.6-fold increase in the number of guideline-indicated evaluations their primary care provider recommended or completed compared with controls.

Clinicians at MGH’s Down Syndrome Program launched DSCU2 in August of this year. The program aggregates the clinical experience of specialists and others who care for these patients. It then connects patients’ families with customized information to augment the work of local care providers. Skotko and his colleagues see approximately 600 patients a year at their clinic. DSC2U now brings MGH’s expertise in caring for individuals with Down syndrome to families around the globe.

To participate, users are asked to identify current symptoms in their loved one with Down syndrome along with any past medical or behavioral diagnoses and any recent blood work or diagnostic testing. They are additionally offered an optional set of questions about nutrition, education, therapies, life skills and community resources.

Responses are electronically analyzed by an evidence-based set of rules, and the output comprises personalized checklists that can be used during annual wellness visits with the patient’s PCP.

“Rather than asking families around the world to come to Boston, we are instead bringing the most accurate and up-to-date information to families in their home settings,” says Skotko. 

“About 95 percent of patients with Down syndrome do not have access to specialist care,” he adds.  Specialist care is particularly important for them as these patients have a wide range of different health, social, and developmental issues.  

DSC2U was created with the help of a generous grant from the Patient-Centered Outcomes Research Institute (PCORI), a federally-funded program established to help patients and their caregivers make better informed decisions about health care. The program was created in collaboration with the MGH Lab of Computer Science, and its development was led by Chung.

DSC2U is available in English and Spanish at www.dsc2u.org for $49 per use. MGH is working with several insurance providers about future coverage options. Discount codes are currently available to Down syndrome non-profit organizations through the LuMind IDSC Foundation, the founding philanthropic supporter of DSC2U. Families should contact their local Down syndrome organization to see what financial support may be available.

About the Massachusetts General Hospital
Massachusetts General Hospital, founded in 1811, is the original and largest teaching hospital of Harvard Medical School. The MGH Research Institute conducts the largest hospital-based research program in the nation, with an annual research budget of more than $1 billion and comprises more than 8,500 researchers working across more than 30 institutes, centers and departments. In August 2020 the MGH was named #6 in the nation by U.S. News & World Report in its list of "America’s Best Hospitals."

About the LuMind IDSC Foundation
The LuMind IDSC Foundation (LuMind IDSC) is an international nonprofit organization that accelerates research to increase availability of therapeutic, diagnostic, and medical care options for everyone with Down syndrome. The Foundation empowers the largest online community of individuals with Down syndrome and their families with education, resources, and support. Since 2004, LuMind IDSC raised a total of $85M in funding for Down syndrome research to prevent Alzheimer’s onset, improve cognition, develop gene therapies, and advance understanding. Visit www.LuMindIDSC.org to learn more or get involved.