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 Jenifer Lavigne and Christianne Sharr are co-first authors.

Co‐occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines

“…What is required are better efforts to organize and support existing clinical DS programs to collect and share information on medical screening, diagnostic evaluation and treatment outcomes, as routinely performed at the point of care. Recent efforts to conduct multicenter data collection and sharing using clinician input data are successfully underway (Lavigne et al, , ) and may provide the necessary mechanism for further progress if properly funded. Efforts to engage the larger community of families living with DS to participate in clinical research studies is also underway (Peprah et al, ).…”

Family perspectives about Down syndrome

“…To the extent that our data are used in prenatal counseling sessions, genetic professionals should advise expectant couples of the composition of our informants. There are no population‐based registries for DS in the United States, although efforts are underway to build a contact registry (https://dsconnect.nih.gov/), patient database [Lavigne et al, ], and biobank. Also, as people with DS have differing opportunities and supports in other countries, future research should explore cross‐cultural comparisons to our U.S. families.…”

Thyroid dysfunction in patients with Down syndrome: Results from a multi‐institutional registry study

“…All data were collected as part of the National Down Syndrome Patient Database (Lavigne et al, ) (Patient Database) during its pilot year (July 1, 2012 to June 30, 2013). The Patient Database is a voluntary study open to all patients with DS who have been diagnosed by clinical examination and/or karyotyping and are enrolled as a patient in one the participating DS specialty clinics: Boston Children's Hospital (BCH), Children's Hospital of Pittsburgh (CHP), Duke University Medical Center (DUMC), Levine Children's Hospital at Carolinas Medical Center (LCH), Massachusetts General Hospital (MGH).…”