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

Kathryn K Ostermaier1, Amy L Weaver2, Scott M Myers3

  • 1Baylor College of Medicine, Houston TX, USA.

Clinical Pediatrics
|July 16, 2020
PubMed

Insights

Children with Down syndrome (DS) have a significantly higher incidence of celiac disease (CD) compared to the general population. This study supports routine celiac disease screening for all children with Down syndrome.

Area of Science:

  • Pediatrics
  • Gastroenterology
  • Genetics

Background:

  • American Academy of Pediatrics (AAP) recommends celiac disease (CD) screening for children with Down syndrome (DS).
  • Existing data supporting this recommendation are inconsistent.
  • A population-based study is needed to determine the incidence of CD in children with DS.

Purpose of the Study:

  • To determine the incidence of celiac disease (CD) in children with Down syndrome (DS).
  • To compare the incidence of CD in DS patients to the general population.
  • To evaluate the evidence supporting current AAP screening guidelines.

Main Methods:

  • A population-based birth cohort of children born between 1976 and 2000 in Olmsted County, Minnesota was analyzed.
  • Individuals with karyotype-confirmed DS and CD (diagnosis codes, serology, biopsies) were identified.
  • CD incidence in DS was compared to the published incidence in the general Olmsted County population.

Main Results:

  • Three out of 45 individuals (6.7%) with DS were diagnosed with CD.
  • The incidence of CD in children with DS was 325 per 100,000 person-years.
  • This represents an incidence rate over 18 times higher than in the general population.

Conclusions:

  • Children with Down syndrome have a substantially elevated incidence of celiac disease.
  • The findings strongly support the AAP's recommendation for routine celiac disease screening in children with DS.
  • Further research may explore the underlying mechanisms for this increased risk.

Keywords:
Down syndromeceliac diseasetrisomy 21

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