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Down Syndrome and Celiac Disease

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:

  • George, E. et al. The high frequency of celiac disease in DS: screening methods. Gastroenterology 1995; 108 (Supp 4): A 16.iv welcomes your comments below (registration is NOT required).

5 Responses:

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said this on
23 Jan 2008 3:54:44 PM PST
I was out surfing for new celiac disease info for athletes and stumbled on your page. I have 2 celiac kids - ages 15 and 8. When I was pregnant with 15 year old I had the standard AFP test for, I think, detection of Down Syndrome. My results were very high and we went to genetic counseling and were told we may have a baby with Down Syndrome. Needless to say, I was a wreck for the rest of my term.

The minute he came out the doctor told us he was perfect -- no Down Syndrome.

8 months later he was gravely ill -- malnurished. After several moths he was diagnosed a celiac disease.

If many Down Syndrome children have celiac disease, does the AFP test detct celiac disease in-utero? I have asked several doctors in the past about this and they all kinda blow me off. Your article raised the question for me again.

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said this on
01 Mar 2011 9:51:58 AM PST
I just found out that my son with Downs has celiac (he will be 7 in May). I am searching for information and help and came upon your comment. I just have to say...glad your baby came out "perfect"...although the comment leaves me saddened and frustrated. I think I have redefined what perfect is since having my child...I've probably even redefined what happiness means or what is most important in life. I used to want perfect kids...

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said this on
12 Apr 2011 3:08:38 PM PST
Dear hwm:
We have three kids,one with Down's, I understand your frustration with the "perfect"terminology. I'm certain it was said inadvertently. All three of my kids are perfect.
FYI, Nicholas was our first born. Good luck to you and yours.

shannon schirtzinger
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said this on
17 Aug 2011 6:53:47 PM PST
Don't sweat the word.... All children are perfect With or without Down Syndrome. I have two children without and one with and they are all equally perfect!!

Dawn L.
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said this on
10 Mar 2008 1:57:51 PM PST
While I found your article interesting it seemed quite the contrary to another recent study posted on this web page. It is entitled Celiac Disease Malignancy Risk Higher Despite Gluten Free Diet. It states quite clearly from a solid study that the risk of small intestinal adenocarcinoma, esophageal cancer, melanoma, and non-Hodgkins lymphoma persisted despite a gluten-free diet. Not to say that a strict gluten-free diet is not beneficial to those diagnosed with Celiac, but I believe it's important to be mindful of such possibilities especially in cases of Celiac and Down Syndrome combined as those conditions both come with predisposal to some serious autoimmune diseases and cancers. I have a 2 yr. old with Down Syndrome and Celiac who is symptomatic despite the Gluten Free diet. Also he has recently developed some type of skin lesions. A lot going on for him right now and more testing this month. I'm praying for the best.

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