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Down Syndrome Abstract
of the Month: June 2009

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Prospective human leukocyte antigen, endomysium immunoglobulin A antibodies and transglutaminase antibodies testing for celiac disease in children with Down syndrome.

Wouters J, Weijerman ME, van Furth AM, Schreurs MW, Crusius JB, von Blomberg BM, de Baaij LR, Broers CJ, Gemke RJ.
J Pediatr. 2009 Feb;154(2):239-42.

Department of Pediatrics and Infectious Diseases, VU University Medical Center, Amsterdam, The Netherlands.

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OBJECTIVE: To assess the effect of a prospective screening strategy for the early diagnosis of celiac disease (CD) in children with Down syndrome (DS). STUDY DESIGN: Blood samples were taken from 155 children with DS. Buccal swabs were also taken from 9 of these children for determination of human leukocyte antigen (HLA)-DQ2 or HLA-DQ8 positivity. Independently, immunoglobulin A anti-endomysium-(EMA) and anti-tissue transglutaminase antibodies (TGA) were tested. An intestinal biopsy was performed to confirm the diagnosis of CD. RESULTS: Sixty-three children (40.6%) had test results that were positive for HLA-DQ2 or HLA-DQ8. Results of HLA DQ-typing of DNA isolated from blood and buccal swabs were identical. Eight of the children in whom test results were positive for HLA-DQ2/8 also had positive test results for EMA and TGA. CD was confirmed in 7 of these children with an intestinal biopsy, and in 1 child, CD was suggested with improvement on a gluten-free diet. CONCLUSIONS: We found a prevalence of CD in children with DS of 5.2% (10 times higher than the general Dutch population). We recommend HLA-DQ2/8 typing from buccal swabs in the first year of life and initiating serologic screening of children with DS in whom test results are positive for HLA-DQ2 or DQ8 at age 3 years. Early knowledge of negative HLA-DQ2/8 status can reassure most parents that their children do not have a CD risk.

My comments:

The screening for celiac disease in children with DS is still controversial in medical circles. Many doctors do not believe screening is necessary or cost effective, instead waiting for signs or symptoms to do the testing. Since celiac disease in children with DS may have few symptoms if any, I believe the recommendations for screening as above are reasonable. However, the test usually runs about $300, and private insurance companies won't pay for the test unless the American Academy of Pediatrics or another medical association strongly recommends it as part of preventable health measures. Apparently some state Medicaid programs will pay for the test.

Also, the HLA typing is currently a blood test. I'm not aware at this date of any labs - in the U.S., at least - that do this test routinely on a buccal (inside of the cheek) swab sample.
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