A randomized controlled trial of an online health tool about Down syndrome

Jeanhee Chung, Karen Donelan, Eric A. Macklin, Alison Schwartz, Ibrahim Elsharkawi, Amy Torres, Yichuan Grace Hsieh, Holly Parker, Stephen Lorenz, Vasiliki Patsiogiannis, Stephanie L. Santoro, Mark Wylie, Lloyd Clarke, Greg Estey, Sandra Baker, Patricia E. Bauer, Marilyn Bull, Brian Chicoine, Sarah Cullen, Ariel Frey-VogelMaureen Gallagher, Reem Hasan, Ashley Lamb, Lisa Majewski, Jawanda Mast, Travis Riddell, Karen Sepucha, Melissa Skavlem, Brian G. Skotko

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


Purpose: 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. Methods: 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. Results: 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. Conclusions: DSC2U improved adherence to the national DS health-care guidelines with a novel modality that was highly valued by both caregivers and PCPs.

Original languageEnglish (US)
Pages (from-to)163-173
Number of pages11
JournalGenetics in Medicine
Issue number1
StatePublished - Jan 2021


  • Down syndrome
  • digital health
  • health-care guidelines
  • primary care
  • trisomy 21

ASJC Scopus subject areas

  • Genetics(clinical)


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