November 1993. European Journal of Pediatrics. Authors Hilhorst MI. Brink M. Wauters EA. Houwen RH. Institution: Department of gastro-enterology, Wilhelmina Childrens Hospital, Utrecht, The Netherlands. The frequency of celiac condition is 43 times greater in children with Down syndrome than in children without Down syndrome. It should be strongly considered in all children with Down syndrome who have either persistent diarrhea or failure to thrive.
Leyden University Medical School just finished a large scale investigation. 198 families with a child with DS aged between 1 and 9 years were approached. 115 decided to have their child participate. The first researcher, Elvira George, made home visits and collected blood and urine for testing. A. o. values of anti-endomysium (EmA) were determined. Only if one of the investigated blood or urine values was significantly different from the norm the child was referred to the hospital to take a biopsy. That was the case with 43 of the 115 children. In 9 cases no biopsy was taken, in six because the parents refused it and in 3 because the childs condition didnt allow for it. Of the 34 children that had a biopsy taken eight, or rather 7 % (!) of the original 115, had the intestinal appearance typical for celiac disease (according to international standards).
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Retrospectively, five of these eight children had complaints that were compatible with celiac disease, that were considered to be caused by DS as such until then. Three children were free of complaints. Their diagnosis was a complete surprise. In addition, it was proven that the value for EmA was the strongest indicator of a positive biopsy. If EmA was positive there always was celiac disease upon biopsy.
Needless to say that all (so far but one) concerned children were put on a totally gluten free diet. It was reported that their complaints decreased rapidly. Celiac disease is considered to put people involved at risk for particular intestinal cancers, if they do not keep their diet. Therefore, the diet has to be maintained lifelong. This aspect makes testing for celiac disease so important in an at risk population as children with DS are. Even without complaints one in fourteen of our children might have it! It is postulated that the children who had different blood values, but no positive biopsy still can develop celiac disease in the future.
Presently, the complete study is in the process of being published in the international literature. So, Im afraid Im only able to give a you a reference to a pre-publication:
Reference:- George, E. et al. The high frequency of celiac disease in DS: screening methods. Gastroenterology 1995; 108 (Supp 4): A 16.iv
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