Children with Down syndrome have a 6-fold higher risk of acquiring celiac disease in the United States when compared to the general population, however there is no consensus on whether to test for celiac disease in this population. The goals of this study are to determine the prevalence of celiac disease in children with Down syndrome at our center and to compare clinically and screening-identified characteristics in this cohort. This is a chart analysis of 1317 children with Down syndrome who were treated at a single facility from 2011 to 2017. All subjects satisfied the inclusion criteria of celiac disease diagnosis between the ages of one month and 22 years, as well as Down syndrome. Clinical information was gathered, including celiac disease screening test results, cause for diagnosis and/or testing, symptoms, dietary notes, demographics, comorbidities, and outcomes. The prevalence of celiac disease was 9.8 percent in our group of children with Down syndrome aged 3 years or older. The average age at diagnosis was 9.24 years, with a 2.85-year lag from the beginning of symptoms to diagnosis for clinically recognized children vs 1.69 years for children found by routine screening. When compared to clinical testing based only on recognized symptoms, routine screening resulted in a diagnosis of celiac disease in 82 percent of clinic patients.

The findings point to the necessity for frequent celiac disease screening in children with Down syndrome in order to enhance case detection and minimize diagnostic delays.