Routine Screening for Celiac Disease in Children With Down Syndrome Improves Case Finding

Area of Science:

• Pediatrics
• Gastroenterology
• Genetics

Background:

• Children with Down syndrome have a significantly higher risk of celiac disease compared to the general population.
• Current practices for screening celiac disease in children with Down syndrome are not standardized.

Purpose of the Study:

• To determine the prevalence of celiac disease in children with Down syndrome at a single institution.
• To compare the diagnostic features and timelines between clinically identified and screened cases of celiac disease in this cohort.

Main Methods:

• Retrospective chart review of 1317 children with Down syndrome treated between 2011 and 2017.
• Analysis of clinical data for 90 participants diagnosed with celiac disease, including screening results, symptoms, and diagnostic delays.

Main Results:

• The prevalence of celiac disease in children with Down syndrome aged 3 years and older was 9.8%.
• Children identified through routine screening had a shorter diagnostic delay (1.69 years) compared to those identified clinically (2.85 years).
• Eighty-two percent of diagnoses were made through routine screening, highlighting its effectiveness.

Conclusions:

• Routine screening for celiac disease in children with Down syndrome is crucial for early detection.
• Implementing routine screening can significantly reduce the time to diagnosis and improve patient outcomes.