Impact of a Pediatric Down Syndrome Clinic on the Identification of Celiac Disease in the Patient Population

The pediatric Down syndrome (DS) clinic model improves medical care access and treatment; however, evidence-based outcomes of this model implementing routine screening are not well documented. Our goal was to evaluate the impact of the pediatric DS clinic on the identification of children with DS and celiac disease using a large patient population. This is a retrospective review of a large cohort of children with DS ages 3-22 years (total = 4158; 2011-2024 Sie Center for DS [SCDS] patients = 2164; 2011-2024 Children's Hospital Colorado [CHCO] patients with DS not seen at SCDS = 924; 1998-2010 CHCO patients with DS receiving care at CHCO before the SCDS = 1070) at a large pediatric hospital. Symptoms present, type and frequency of testing completed, and other co-occurring conditions were reviewed. The pediatric DS clinic model using routine screening significantly increased the identification of celiac disease (7.4%, n = 160/2164 vs. 2.4% and 2.8%) with the majority identified by routine screening rather than current American Academy of Pediatrics (AAP) DS Guidelines' recommendations. Impact of repeat screenings and co-occurring condition risk ratios is reported. The pediatric DS clinic model implementing routine screening improves patient identification for celiac disease. Our results should be considered when updating celiac disease testing recommendations in the AAP DS Guidelines for this unique population.