National down syndrome patient database: Insights from the development of a multi-center registry study

Jenifer Lavigne, Christianne Sharr, Al Ozonoff, Lisa Albers Prock, Nicole Baumer, Campbell Brasington, Sheila Cannon, Blythe Crissman, Emily Davidson, Jose C. Florez, Priya Kishnani, Angela Lombardo, Jordan Lyerly, Jessica B. McCannon, Mary Ellen McDonough, Alison Schwartz, Kathryn L. Berrier, Susan Sparks, Kara Stock-Guild, Tomi L. TolerKishore Vellody, Lauren Voelz, Brian G. Skotko

Research output: Contribution to journalComment/debate

13 Scopus citations

Abstract

The Down Syndrome Study Group (DSSG) was founded in 2012 as a voluntary, collaborative effort with the goal of supporting evidenced-based health care guidelines for individuals with Down syndrome (DS). Since then, 5 DS specialty clinics have collected prospective, longitudinal data on medical conditions that co-occur with DS. Data were entered by clinical staff or trained designees into the National Down Syndrome Patient Database, which we created using REDCap software. In our pilot year, we enrolled 663 participants across the U.S., ages 36 days to 70 years, from multiple racial and ethnic backgrounds. Here we report: (i) the demographic distribution of participants enrolled, (ii) a detailed account of our database infrastructure, and (iii) lessons learned during our pilot year to assist future researchers with similar goals for other patient populations.

Original languageEnglish
Pages (from-to)2520-2526
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number11
DOIs
StatePublished - Nov 2015

Keywords

  • Down syndrome
  • Patient database
  • Registry
  • Trisomy 21

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