When to screen children with Down syndrome for celiac disease?

Area of Science:

• Pediatric Gastroenterology
• Genetics and Genetic Diseases
• Immunology

Background:

• Down syndrome (DS) is associated with an increased risk of celiac disease (CD).
• Previous studies suggest a higher prevalence of CD in individuals with DS.
• The optimal screening strategy for CD in this population remains debated.

Purpose of the Study:

• To evaluate the necessity of routine serological screening for celiac disease in children with Down syndrome under 8 years of age.
• To assess the diagnostic accuracy of transglutaminase antibody testing in this specific demographic.

Main Methods:

• Serological testing for immunoglobulin A (IgA) and immunoglobulin G (IgG) transglutaminase antibodies was performed on 82 children with DS (aged 8 months to 8.6 years).
• Total IgA levels were measured for follow-up.
• Enteric biopsy was conducted in four children who showed positive antibody results.

Main Results:

• None of the children with Down syndrome were diagnosed with celiac disease, despite positive results in serological markers.
• Enteric biopsies in four antibody-positive children confirmed the absence of celiac disease.
• This suggests a potential for false-positive results with serological screening in young children with DS.

Conclusions:

• Obligatory serological screening for celiac disease in children with Down syndrome younger than 8 years may not be indicated.
• Further research is needed to refine screening guidelines for celiac disease in pediatric Down syndrome populations.
• The interpretation of serological markers for celiac disease in young children with DS requires careful consideration.