Celiac Disease in Children with Down Syndrome (+Video)

Celiac.com 10/08/2025 - Celiac disease is an autoimmune condition triggered by eating gluten, a protein found in wheat, rye, and barley. When someone with celiac disease eats gluten, the immune system attacks the lining of the small intestine, leading to damage, poor nutrient absorption, and a wide range of symptoms. People with Down syndrome have a higher chance of developing celiac disease compared to the general population. While about one percent of children in Western countries may have celiac disease, the rate is much higher in children with Down syndrome. This raises important questions about whether children with Down syndrome should be screened regularly for celiac disease, even when they do not have obvious symptoms.

Purpose of the Study

The study examined how common celiac disease is in children and adolescents with Down syndrome, and described their clinical signs, blood test results, and intestinal biopsy findings. It also compared how long it takes for celiac-related antibodies in the blood to return to normal after starting a gluten-free diet, both in children with Down syndrome and in children with celiac disease who do not have Down syndrome.

How the Study Was Conducted

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Researchers reviewed medical records of children with Down syndrome under the age of 18 who were followed at a pediatric genetics clinic in Italy between 2005 and 2022. Every child with Down syndrome was screened annually for celiac disease using blood tests. If the results were suspicious, further investigations including intestinal biopsies were performed. For comparison, two children with celiac disease but without Down syndrome were matched by age and sex for each Down syndrome child. All participants were followed for at least two years after diagnosis, with blood tests at 6, 12, and 24 months.

Prevalence of Celiac Disease

Among 770 children with Down syndrome, 58 were diagnosed with celiac disease, giving a prevalence of 7.5 percent. This is far higher than in the general child population. After excluding one unmatched patient, the final study group included 57 children with both Down syndrome and celiac disease, and 114 children with celiac disease but no Down syndrome.

Symptoms and Clinical Features

Interestingly, children with Down syndrome and celiac disease had fewer noticeable symptoms at diagnosis than children without Down syndrome (26 percent versus 79 percent). Typical symptoms such as abdominal pain, diarrhea, or weight loss were less common. This means that many children with Down syndrome might have severe intestinal damage without showing clear outward signs. The study also found that other autoimmune diseases, especially thyroid disease, were much more common in the Down syndrome group (28 percent compared to 6 percent in controls).

Blood Test and Biopsy Findings

Blood tests showed that most children with Down syndrome had very high levels of antibodies associated with celiac disease, often more than ten times the upper limit of normal. At the time of diagnosis, 93 percent of these children had severe intestinal damage confirmed by biopsy. These results underline that even if children with Down syndrome do not appear ill, the disease may already be advanced.

Response to a Gluten-Free Diet

Both groups of children were placed on a strict gluten-free diet. Over time, antibody levels in the blood began to fall. However, the study showed that it took much longer for antibodies to return to normal in children with Down syndrome compared to children without it. For example, the median time for normalization of anti-transglutaminase antibodies was about 727 days (nearly two years) in children with Down syndrome, versus only 356 days (about one year) in those without. The difference for another antibody, anti-endomysium, was smaller but still pointed in the same direction. This slower response could be due to differences in immune system function in Down syndrome or challenges in strictly following a gluten-free diet.

Key Takeaways

This study highlights several important points:

• Celiac disease is far more common in children with Down syndrome than in the general population.
• Children with Down syndrome often have few or no symptoms, meaning the disease may go unnoticed without screening.
• Blood tests and biopsies show severe disease even when symptoms are mild or absent.
• Children with Down syndrome take longer to show improvement in blood markers after starting a gluten-free diet.
• Other autoimmune diseases are more common in children with both Down syndrome and celiac disease.

Why This Matters for Families and Clinicians

For parents of children with Down syndrome, this research shows the importance of regular screening for celiac disease, even if the child appears healthy. Relying on symptoms alone could miss most cases. For doctors, it is important to explain that blood tests may take longer to improve after diagnosis, so families should not be discouraged if results are slow to normalize. Knowing this in advance may prevent unnecessary anxiety and repeated testing. Finally, since many children with Down syndrome also have other autoimmune conditions, careful long-term medical follow-up is essential.

Conclusion

The study confirms that celiac disease is common in children with Down syndrome and often develops silently. Regular blood screening helps detect the disease early, before major health problems occur. Even after starting a gluten-free diet, parents and doctors should expect a slower recovery of antibody levels compared to children without Down syndrome. These findings are highly meaningful for families managing both Down syndrome and celiac disease, as they support the value of yearly testing and close medical monitoring to protect long-term health.

Read more at: frontiersin.org

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