Stronger Together: A Multi-institutional Database Is Connecting Down Syndrome Clinics for Better Outcomes

Due to medical advances, people with Down syndrome are living longer than ever before. This increased life expectancy has nearly doubled in the past 25 years. The National Down Syndrome Society estimates that 400,000 people with Down syndrome are living in the United States. Despite this increased life expectancy, little current information on the secondary medical problems associated with the aging population is available.  With this dramatic increase in the cohort of older Down syndrome patients, there is a need to develop an understanding of the comorbidities that are developing in all ages of this group.

Five Down syndrome specialty clinics at multiple institutions (Levine Children’s Hospital, Massachusetts General Hospital, Boston Children’s Hospital, Children’s Hospital of Pittsburgh and Duke University Medical Center) joined forces to create the National Down Syndrome Patient Database to begin to answer these questions. In its pilot year, the registry enrolled 663 patients from infancy to adulthood.  In the initial year, the database focused on thyroid function tests and celiac disease screens, how often new diagnoses were given and aimed to provide evidence for DS health care screening guidelines.  Investigation of celiac disease screening found that of 114 patients screened, only 3 were ultimately diagnosed with celiac disease.

In February 2016, the Down Syndrome Clinic at Nationwide Children’s Hospital joined the National Down Syndrome Patient Database.  Of the approximately 300 patients with Down syndrome who visited the Down syndrome clinic last year at Nationwide, we have enrolled nearly 100 in the registry and continue to enroll.

We are excited to be a part of this national registry to study Down syndrome for many reasons:  clinical research feasibility and impact, national collaborations and future potential.  As one of the first sites included in this national database, Nationwide Children’s is involved in the initial planning phases and has input in the direction this database takes.  The use of a national registry allows our individual specialty clinics to collaborate to conduct clinical research; combining sites improves our sample size, power and generalizability.

Sharing the workload involved with clinical research also allows us to complete research that wouldn’t be feasible independently.  Families appreciate involvement in clinical research and know that we can connect them with top-notch clinical research opportunities.  And, being included in national research helps create a research presence for the Down Syndrome Clinic and Nationwide Children’s.  This presence will allow our patients to continue to be involved in future, groundbreaking research.

References:

1. Lavigne J, Sharr C, Ozonoff A, Prock LA, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E,Florez JC, Kishnani P, Lombardo A, Lyerly J, McCannon JB, McDonough ME, Schwartz A, Berrier KL, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG. 2015. National Down syndrome patient database: Insights from the development of a multi-center registry study. American Journal of Medical Genetics Part A. 167A(11):2520-2526
2. Sharr C, Lavigne J, Elsharkawi IM, Ozonoff A, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McDonough ME, Schwartz A, Berrier KL, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG. Detecting celiac disease in patients with Down syndrome. American Journal of Medical Genetics Part A. 2016 Sep 8. [Epub ahead of print]

Photo credit: Adobe Stock