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

J Pediatr Gastroenterol Nutr. 2020 Aug;71(2):252-256. doi: 10.1097/MPG.0000000000002742.

Edwin Liu 1, Kristine Wolter-Warmerdam 2, Juana Marmolejo 2, Dee Daniels 1, Garrett Prince 3, Fran Hickey 1


Author information

  • 1Department of Pediatrics.
  • 2Children's Hospital Colorado, Aurora, CO.
  • 3University of Colorado School of Medicine.


Objectives: Children with Down syndrome have an estimated 6-fold increased risk of developing celiac disease in the United States compared with the general population, yet the determination to screen for celiac disease in this population is not agreed upon. The objectives of this study are to assess the prevalence of celiac disease in children with Down syndrome in our center and compare features from this population identified clinically and through screening.

Methods: This is a retrospective chart review of 1317 children with Down syndrome who received treatment at a single institution from 2011 to 2017. All participants (n = 90; 53.3% boys) met inclusion criteria of celiac disease diagnosis between 1 month and 22 years of age and Down syndrome. Clinical details were collected, which included the results from celiac disease screening tests, reason for diagnosis and/or testing, symptoms, nutrition notes, demographics, comorbidities, and outcomes.

Results: Prevalence of celiac disease in our population of children with Down syndrome ages 3 years or older was 9.8%. Mean age at diagnosis was 9.24 years (SD = 4.98) with an average of 2.85 years (SD ± 3.52) lag from the onset of symptoms to diagnosis for children clinically identified in comparison with 1.69 years (SD ± 2.09) for children identified through routine screening. Eighty-two percentage of clinic patients received a diagnosis of celiac disease because of routine screening compared with clinical testing based on identified symptoms alone.

Conclusion: Our results suggest the need for routine celiac disease screening in children with Down syndrome to improve case-finding and avoid diagnostic delay.

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