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

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

来源：American Journal of Medical Genetics, Part A, 2015, 167(11): 2520-2526.

DOI：10.1002/ajmg.a.37267

• down syndrome
• patient database
• registry
• trisomy 21

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.

• 出版日期2015-11