Incidence of Celiac Disease in Down Syndrome: A Longitudinal, Population-Based Birth Cohort Study

Kathryn K. Ostermaier, Amy L. Weaver, Scott M. Myers, Ruth E. Stoeckel, Slavica K. Katusic, Robert G. Voigt

Research output: Contribution to journalArticlepeer-review


American Academy of Pediatrics (AAP) guidelines for children with Down syndrome (DS) include assessment for celiac disease (CD), although data to support this recommendation have been inconsistent. We determined the incidence of CD among children with DS in a population-based birth cohort of children born from 1976 to 2000 in Olmsted County, Minnesota. Individuals with karyotype-confirmed DS and CD (using diagnosis codes, positive serology, and duodenal biopsies) were identified. The incidence of CD in DS was compared with the published incidence of CD for Olmsted County residents (17.4 [95% confidence interval = 15.2-19.6] per 100 000 person-years). Among 45 individuals with DS from the birth cohort, 3 (6.7%) were identified with positive celiac serology and confirmatory biopsies at ages 9, 12, and 23 years, for an incidence of 325 per 100 000 person-years. Thus, individuals with DS have more than 18 times the incidence rate of CD compared with the general population, supporting the AAP guidelines.

Original languageEnglish (US)
Pages (from-to)1086-1091
Number of pages6
JournalClinical Pediatrics
Issue number12
StatePublished - Oct 1 2020


  • Down syndrome
  • celiac disease
  • trisomy 21

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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