title: National down syndrome patient database: Insights from the development of a multi-center registry study.
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.
authors.affiliation: Department of Pediatrics, Clinical Genetics, Levine Children's Hospital at Carolinas Healthcare System, Charlotte, North Carolina.
authors.forename: Jenifer
authors.initials: J
authors.lastname: Lavigne
authors.affiliation: Down Syndrome Program, Division of Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.
authors.forename: Christianne
authors.initials: C
authors.lastname: Sharr
authors.affiliation: Harvard Medical School, Boston, Massachusetts.|Center for Patient Safety and Quality Research, Program for Patient Safety and Quality, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Al
authors.initials: A
authors.lastname: Ozonoff
authors.affiliation: Harvard Medical School, Boston, Massachusetts.|Down Syndrome Program, Division of Developmental Medicine, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Lisa Albers
authors.initials: LA
authors.lastname: Prock
authors.affiliation: Harvard Medical School, Boston, Massachusetts.|Down Syndrome Program, Division of Developmental Medicine, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Nicole
authors.initials: N
authors.lastname: Baumer
authors.affiliation: Department of Pediatrics, Clinical Genetics, Levine Children's Hospital at Carolinas Healthcare System, Charlotte, North Carolina.
authors.forename: Campbell
authors.initials: C
authors.lastname: Brasington
authors.affiliation: Down Syndrome Center of Western Pennsylvania, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.
authors.forename: Sheila
authors.initials: S
authors.lastname: Cannon
authors.affiliation: Comprehensive Down Syndrome Program, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina.
authors.forename: Blythe
authors.initials: B
authors.lastname: Crissman
authors.affiliation: Harvard Medical School, Boston, Massachusetts.|Down Syndrome Program, Division of Developmental Medicine, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Emily
authors.initials: E
authors.lastname: Davidson
authors.affiliation: Down Syndrome Program, Division of Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.|Harvard Medical School, Boston, Massachusetts.
authors.forename: Jose C
authors.initials: JC
authors.lastname: Florez
authors.affiliation: Comprehensive Down Syndrome Program, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina.
authors.forename: Priya
authors.initials: P
authors.lastname: Kishnani
authors.affiliation: Down Syndrome Program, Division of Developmental Medicine, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Angela
authors.initials: A
authors.lastname: Lombardo
authors.affiliation: Department of Pediatrics, Clinical Genetics, Levine Children's Hospital at Carolinas Healthcare System, Charlotte, North Carolina.
authors.forename: Jordan
authors.initials: J
authors.lastname: Lyerly
authors.affiliation: Down Syndrome Program, Division of Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.|Harvard Medical School, Boston, Massachusetts.
authors.forename: Jessica B
authors.initials: JB
authors.lastname: McCannon
authors.affiliation: Down Syndrome Program, Division of Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.
authors.forename: Mary Ellen
authors.initials: ME
authors.lastname: McDonough
authors.affiliation: Down Syndrome Program, Division of Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.|Harvard Medical School, Boston, Massachusetts.
authors.forename: Alison
authors.initials: A
authors.lastname: Schwartz
authors.affiliation: Comprehensive Down Syndrome Program, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina.
authors.forename: Kathryn L
authors.initials: KL
authors.lastname: Berrier
authors.affiliation: Department of Pediatrics, Clinical Genetics, Levine Children's Hospital at Carolinas Healthcare System, Charlotte, North Carolina.
authors.forename: Susan
authors.initials: S
authors.lastname: Sparks
authors.affiliation: Down Syndrome Program, Division of Developmental Medicine, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Kara
authors.initials: K
authors.lastname: Stock-Guild
authors.affiliation: Down Syndrome Program, Division of Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.
authors.forename: Tomi L
authors.initials: TL
authors.lastname: Toler
authors.affiliation: Down Syndrome Center of Western Pennsylvania, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.
authors.forename: Kishore
authors.initials: K
authors.lastname: Vellody
authors.affiliation: Down Syndrome Program, Division of Developmental Medicine, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Lauren
authors.initials: L
authors.lastname: Voelz
authors.affiliation: Down Syndrome Program, Division of Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.|Harvard Medical School, Boston, Massachusetts.
authors.forename: Brian G
authors.initials: BG
authors.lastname: Skotko
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003299:Cooperative Behavior; D016208:Databases, Factual; D003710:Demography; D004314:Down Syndrome / Q000453:epidemiology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D058025:Interdisciplinary Studies; D008297:Male; D015337:Multicenter Studies as Topic; D012042:Registries; D014481:United States / Q000453:epidemiology; D055815:Young Adult
keywords: down syndrome; patient database; registry; trisomy 21