A recent Italian study brings important news for families: celiac disease affects about 7.5% of children with Down syndrome—significantly higher than the 1% rate in the general population. Researchers followed 770 children with Down syndrome over 17 years, screening them annually with blood tests. What makes this finding particularly significant is that children with Down syndrome often show few or no symptoms, even when they have severe intestinal damage. While 79% of children without Down syndrome showed clear symptoms like abdominal pain or diarrhea at diagnosis, only 26% of children with Down syndrome had noticeable signs.
Why This Happens: Children with Down syndrome have different immune system responses, which may explain both the higher rates of celiac disease and the “silent” nature of their symptoms. The study found that 93% of children with Down syndrome already had severe intestinal damage at diagnosis, despite appearing healthy. This means that relying on symptoms alone could allow the disease to progress undetected, potentially affecting growth, nutrition, and overall health.
The Good News About Treatment: A gluten-free diet remains highly effective for managing celiac disease. However, researchers discovered something important for parents to know: children with Down syndrome may take longer to show improvement in blood test results compared to other children—often nearly two years versus one year. This slower response could be due to differences in immune system function or the challenges of maintaining a strict gluten-free diet. The key message: if your child is diagnosed and blood tests improve slowly, this is normal and doesn’t mean the diet isn’t working. Don’t be discouraged by the timeline.
What This Means for Your Family: Talk to your child’s doctor about annual celiac disease screening. The screening involves a simple blood test that checks for celiac-related antibodies. If results are elevated, your doctor may recommend an intestinal biopsy to confirm the diagnosis. Early detection protects long-term health and allows you to start treatment before symptoms appear or damage becomes more severe.
Additional Health Considerations: The study also found that children with both Down syndrome and celiac disease have higher rates of other autoimmune conditions, particularly thyroid disease (28% compared to 6% in children without Down syndrome). This underscores the importance of comprehensive, ongoing medical monitoring for children with Down syndrome, especially once celiac disease is diagnosed.
While this study was conducted in Italy, DSA Biobank is actively collecting samples that could support similar research here in the United States. By focusing on underserved research areas like celiac disease, congenital heart defects, and other autoimmune conditions in Down syndrome, we’re helping advance the science that leads to better screening guidelines and improved treatment approaches. Research like this demonstrates exactly why building our biobank inventory matters—it enables discoveries that directly impact your family’s health and quality of life.
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