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Down Syndrome: Stichting Down Syndrome

Erik de Graaf
director, Stiching Down Syndrome (SDS)
(i.e., the Dutch Down Syndrome Foundation)
Vice-President of the European Downs Syndrome Association (EDSA)
Bovenboerseweg 41
NL-7941 AL Wanneperveen
The Netherlands
Tel.: -31-(0)522-28 13 37
Fax.: -31-(0)522-28 17 99
E-mail: sdswannl@knoware.nl

Leyden University Medical School just finished a large-scale investigation using 198 families who have a child with DS between the ages of 1 and 9 years old. 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 was the child 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 that had different blood values but no positive biopsy can still develop celiac disease in the future. Their condition will remain be followed. Presently, the complete study is in the process of being published in international literature. There is the following pre-publication reference:

  • George, E. et al. The high frequency of celiac disease in DS: screening methods. Gastroenterology 1995; 108 (Supp 4): A 16

For more information:

  • Medical & Surgical Care for Children with Down Syndrome Ed. by DC Van Dyke MD, Woodbine House l995 ISBN ## 0-933149-54-9 p. 185 ...one study found that individuals with DS are 20 times more likely than others to have a particular malabsorption syndrome known as celiac disease. This section is written by Timothy M Buie MD and references DS and Celiac Disease Pediatric Gastroenterology and Nutrition Vol. 10, No.1. l990 41-43 by Dias, J. and Walker-Smith, J.

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