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The Down Syndrome Guild of Dallas provides accurate and current information, resources and support for people with Down syndrome, their families and the community.

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Celiac Disease Screening

By Joanna Spahis, RN, CNS, APNG, Clinical Nurse Specialist

Down Syndrome Clinic

Children’s Medical Center Dallas

Screening for celiac disease is recommended for children with Down syndrome according to the "Down Syndrome Preventive Medical Checklist" around 2 to 3 years of age. Celiac disease is considered a type of autoimmune disease that can affect the digestion and absorption of nutrients from food, and people with Down syndrome have a higher risk for all autoimmune diseases. Fortunately, the specialists at the Down Syndrome Clinic at Children’s Medical Center Dallas have found that only a small number of our patients have this disease (about 5%.) Therefore, not every child is screened—only those children with the symptoms listed below, or by parent’s request.

Q: What is celiac disease?

A: Celiac disease, also called "sprue," "celiac sprue," or "gluten intolerance" is a condition that causes difficulty in digesting the protein found in wheat, barley, rye, called "gluten." Over time, the gluten causes damage to the lining of the small intestine, causing symptoms such as a failure to gain weight and sometimes height, chronic abdominal pain, bloating, diarrhea, and sometimes vomiting. Children with celiac disease may also be irritable, have a poor appetite, and foul-smelling bowel movements.

Q: What kind of screening is available for celiac disease?

A: There is a simple blood test (called total transglutaminase) that looks at antibodies to a certain enzyme that is very reliable, but not completely accurate in all cases. Fecal analysis may be more reliable than blood testing. DNA genetic testing for certain mutations that can lead to celiac disease is also possible but not yet widely available. The only way to know for sure if a child has celiac disease is for them to have a procedure called a "small bowel biopsy" where a sample of small intestine is taken out and the cells are examined under a microscope for damage.

Q: Who can do screening for celiac disease?

A: Any physician can order the blood for screening. If it comes back abnormal, the patient should be referred to a gastroenterologist, who is a specialist in digestive disorders and can perform the small bowel biopsy to confirm the diagnosis.

Q: How is celiac disease treated?

A: The only treatment for celiac disease is for the affected person to eliminate all gluten from his or her diet. This means that for the rest of the person’s life, he or she cannot eat any foods that contain wheat, barley, or rye. It can be a difficult diet and "gluten-free" foods are generally more expensive. However, more grocery stores are stocking these products.

For more information see:

Celiac support page at www.celiac.com

Celiac Disease Foundation at www.celiac.org