The Turkish Journal of Pediatrics 2005 , Vol 47 , Num 2
Celiac disease screening in 100 Turkish children with Down syndrome
Clinical Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey Alanay Y, Boduroğlu K, Tunçbilek E. Celiac disease screening in 100 Turkish children with Down syndrome. Turk J Pediatr 2005; 47: 138-140.

The aim of this study was to screen a group of children with Down syndrome (DS) for celiac disease, and to define future strategies for screening the patients followed at our center. One hundred children over the age of two years with Down syndrome were serologically screened using antiendomysium antibody (EMA) IgA and serum IgA in order to exclude a concomitant IgA deficiency. Clinical assessment included detailed physical examination, measurement of weight and height plotted on growth charts for DS children followed by an interview of the patients and parents about gastrointestinal symptoms. Only one patient out of 100 (1%) was detected to be EMA IgA-positive. The child’s family refused consent for the biopsy procedure. None of the patients had IgA deficiency. Abdominal distention was present in 13 (13%) patients, and anorexia in 9 (9%), vomiting in 7 (7%) and alopecia areata in 2 (2%) patients were also noted. Despite the small number of patients in our group, this result yielding 1% EMA-positivity is the lowest yet determined among DS patients. It has led us to discuss whether or not a change in our screening strategy is necessary. Keywords : antiendomysium antibody (EMA), celiac disease, Down syndrome

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