National down syndrome patient database: Insights from the development of a multi‐center registry study |
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| Authors: | 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 Toler Kishore Vellody Lauren Voelz Brian G Skotko |
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| Institution: | 1. Department of Pediatrics, Clinical Genetics, Levine Children's Hospital at Carolinas Healthcare System, Charlotte, North Carolina;2. Down Syndrome Program, Division of Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts;3. Harvard Medical School, Boston, Massachusetts;4. Center for Patient Safety and Quality Research, Program for Patient Safety and Quality, Boston Children's Hospital, Boston, Massachusetts;5. Down Syndrome Program, Division of Developmental Medicine, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts;6. Down Syndrome Center of Western Pennsylvania, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania;7. Comprehensive Down Syndrome Program, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina |
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| 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. © 2015 Wiley Periodicals, Inc. |
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| Keywords: | down syndrome patient database registry trisomy 21 |
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