We sought to determine if a novel online health tool, called Down Syndrome Clinic to You (DSC2U), could improve adherence to national Down syndrome (DS) guidelines. We also sought to determine if primary care providers (PCPs) and caregivers are satisfied with this personalized online health tool.
In a national, randomized controlled trial of 230 caregivers who had children or dependents with DS without access to a DS 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 DS. DSC2U is completed electronically, in all mobile settings, by caregivers at home. The outputs—personalized checklists—are used during annual wellness visits with the patient’s PCP.
A total of 213 participants completed a 7-month follow-up evaluation. In the intention-to-treat analysis, the intervention group had a 1.6-fold increase in the number of indicated evaluations that were recommended by the primary care provider or completed compared with controls. Both caregivers and PCPs reported high levels of satisfaction with DSC2U.
DSC2U improved adherence to the national DS health-care guidelines with a novel modality that was highly valued by both caregivers and PCPs.
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Our research team gives special thanks to Sujata Bardhan and Melissa Parisi of the Eunice Kennedy Shriver National Institute of Child Health and Human Development for thoughtful consultation throughout this research. We are also grateful to Caitlin Woglom for providing insight into DSC2U’s nutrition-based questions and to Maggie Balz for providing insight into DSC2U’s swallowing-based questions. We are grateful to Beth Watters, Rosemary Guiltinan, and Elizabeth Azano of Partners Office of General Counsel for their legal consultation on our description of DSC2U and the customized outputs. Ye Chin Lee of the MGH Laboratory of Computer Science provided valuable advice on the long-term sustainability of DSC2U. We especially thank all of the Down syndrome nonprofit organizations that advertised our trial to their members. This work was supported through a Patient-Centered Outcomes Research Institute (PCORI) Research Award (AD-1507-31567).
B.G.S. occasionally consults on the topic of Down syndrome through Gerson Lehrman Group. He receives remuneration from Down syndrome nonprofit organizations for speaking engagements and associated travel expenses. B.G.S. receives annual royalties from Woodbine House, Inc., for the publication of his book, Fasten Your Seatbelt: A Crash Course on Down Syndrome for Brothers and Sisters. Within the past two years, he has received research funding from F. Hoffmann-La Roche, Inc. and LuMind Research Down Syndrome Foundation to conduct clinical trials for people with Down syndrome. B.G.S. is occasionally asked to serve as an expert witness for legal cases where Down syndrome is discussed. B.G.S. serves in a nonpaid capacity on the Honorary Board of Directors for the Massachusetts Down Syndrome Congress and the Professional Advisory Committee for the National Center for Prenatal and Postnatal Down Syndrome Resources. B.G.S. has a sister with Down syndrome. K.D. is an unpaid member of the Board of Directors of Bridges Associates, a private not-for-profit organization serving children and adults with learning disabilities in Barnstable County, Massachusetts. E.A.M. serves as a DSMB member for Novartis Pharmaceuticals and Shire Human Genetic Therapies; serves on a trial Steering Committee for Biogen; serves on the Executive Committee of the Parkinson Study Group; has recently consulted for Cerevance, InTrance, and Inventram; and his institution receives research funding on his behalf from ALS Finding A Cure, Amylyx Pharmaceuticals, Autism Speaks, Cedars-Sinai Research Institute, Farmer Family Foundation, GlaxoSmithKline, Mitsubishi Tanabe Pharmaceuticals, and the Salah Foundation. S.L.S. receives research funding from the LuMind Down Syndrome Foundation IDSC. She is a nonpaid volunteer for the Medical and Scientific Advisory Council for the Massachusetts Down Syndrome Congress. S.B. is an employee of the Down Syndrome Association of Los Angeles and serves in a nonpaid capacity on the Self Determination Advisory Committee as a parent of an individual with disabilities for the North Los Angeles County Regional Center area. P.E.B. serves in a nonpaid capacity on the board of trustees of the Riverview School in East Sandwich, Massachusetts. P.E.B. has a daughter with Down syndrome. B.C. receives remuneration from Down syndrome nonprofit organizations for speaking engagements and associated travel expenses. B.C. receives annual royalties from Woodbine House, Inc., for the publication of his books, Mental Wellness in Adults with Down Syndrome and The Guide to Good Health for Teens and Adults with Down Syndrome. Within the past year, he has received research funding from LuMind Research Down Syndrome Foundation to conduct a clinical trial for people with Down syndrome. B.C. is occasionally asked to serve as an expert witness for legal cases where Down syndrome is discussed. B.C. serves in a nonpaid capacity on the Board of Directors for the Down Syndrome Medical Interest Group and the Professional Advisory Committee for the National Down Syndrome Society and the National Down Syndrome Congress. B.C.’s great uncle had Down syndrome. J.M. speaks at conferences for Down syndrome and other disability organizations. Additionally, J.M. consults and facilitates the National Down Syndrome Congress Advocacy Training Boot Camp and does some other advocacy related consulting for them, and facilitates educational workshops for a local nonprofit, Inclusion Connections. J.M. currently serves on two boards, Disability Rights Center of Kansas (incoming Board President) and the City of Olathe Persons with Disabilities Advisory Board. J.M. has a child with Down syndrome. T.R. is a self-employed pediatrician. He also provides contract work for St. John’s Health in Jackson, Wyoming as a staff pediatrician and for the State of Wyoming and Teton County, Wyoming as County Health Officer. He is a volunteer clinical faculty member of the University of Washington School of Medicine. M.S., L.M., P.E.B., S.B., J.M., and S.C. each have a child with Down syndrome. The other authors declare no conflicts of interest.
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Chung, J., Donelan, K., Macklin, E.A. et al. A randomized controlled trial of an online health tool about Down syndrome. Genet Med (2020). https://doi.org/10.1038/s41436-020-00952-7
- Down syndrome
- trisomy 21
- digital health
- health-care guidelines
- primary care