Celiac Disease & Down Syndrome

What is CD?

The small bowel has many roles, one of which is to absorb nutrients from our food. Celiac disease (CD) arises when the lining of the small bowel becomes damaged from exposure to gluten, the protein found in wheat, barley and rye. (Oats may be involved because oats are often contaminated with gluten from other grains during the milling process.) The small bowel becomes unable to absorb water and nutrients, causing a number of different symptoms.

How common is CD in Down syndrome?

Studies in the 1990s indicate that 7-16% of children with DS have CD. The frequency of celiac condition is 43 times greater in children with Down syndrome than in children without Down syndrome.

Why does a child get CD?

First, the disease arises only after exposure to gluten. Second, there is usually a genetic predisposition toward a "sensitive" small bowel lining. Third, certain environmental insults may make the lining more susceptible to injury from gluten, such as surgery on the gastrointestinal tract or a gastrointestinal infection. Whatever the initial reason, the gluten causes an immunologic response in the lining of the small bowel: the surface folds shrink and flatten and a "malabsorption" condition occurs. CD used to be considered to be much more common in Europe than in the US, but recent studies indicate that the incidence of CD in people in the US of European ancestry have the same incidence as in Europe. People of African-Caribbean and far Eastern Asian ancestry very rarely have CD.

What are the Symptoms?

The signs of CD are varied, since the condition may be very mild in some and severe in others. The majority of children with CD have what's called "failure to thrive:" lack of growth of weight, and sometimes height as well. Most have diarrhea, and/or vomiting. Children with CD are irritable and usually have a decreased appetite. The stools may be foul smelling, and in occasional cases, may not be loose but big and bulky. A small number of children will develop severe diarrhea leading to dehydration. The children who have had CD for several months will have bloating of the stomach and a loss of muscle mass. If not treated, malabsorption will continue to cause undernourishment, producing anemia, osteoporosis and peripheral neuropathy. Children with DS who develop CD may actually have few symptoms at all, leading to what is called "silent" CD.

Since CD can show few to none symptoms in children with DS, why worry about it? Because if left untreated, CD can cause decreased growth in height in children. Untreated CD can also cause a type of cancer in the intestine called lymphoma. This cancer is a rare but serious outcome that appears in the later adult years.

How is it Diagnosed?

The main way of diagnosing CD has always been through biopsy of the small bowel. Under a microscope, the small bowel will show characteristic damage to the lining. One way this is done by having the patient swallow a capsule attached to a string, which is used to retrieve the capsule after a period of time. Many doctors prefer to do a biopsy under direct endoscopy, however, especially in children. The lining of the small bowel has certain characteristics under a microscope when CD is present.

Since a small bowel biopsy is neither easy nor cheap, it's not in the best interest of the child or family to do a biopsy on every child with DS. So the best thing would be to have an easy blood test that can detect the children who need the diagnostic biopsy. A few blood tests have been tried in the past with unhelpful results, such as the antigliadin antibody (AGA) test, which is pretty much abandoned now. The next blood test developed looks for antiendomysium (or antiendomysial) antibodies (EMA). While the EMA test is superior to the antigliadin test, the interpretation of the test is operator-dependent and prone to errors. The newest blood test looks for IgA antibodies to the enzyme transglutaminase (TG). TG is an intracellular enzyme that binds gliadin and starts to process it in a way that starts the autoimmune sequence in CD. As the TG test has turned out to be a very sensitive and specific screening test for CD, it has become the favored screening test, especially for children and adults who have no symptoms of CD. Note that all these tests are measuring IgA levels of the antibodies. One problem is that IgA deficiency may occur in people with CD, and therefore the IgA markers for CD may not show up. That would classify as a "false negative." For that reason, every time a person has blood tests for CD, the doctor should also test for total IgA levels. Screening for CD in children with DS is still controversial, as some doctors do not believe it occurs often enough to be cost-effective; and other doctors who do feel every child with DS needs to be screened are unsure about the best age, or even if one screen is enough.

Recent research has found that 97 to 98% of all cases of CD are found in people with certain genetic markers. These genetic markers are called HLA ("human leukocyte antigen") markers. There are two markers that are associated with CD: HLA-DQ2 and HLA-DQ8. In cases where CD is suspected and there is an IgA deficiency, these markers can be looked for instead to determine if a small bowel biopsy is warranted. Children with DS and CD also have the same markers. Interestingly, the genes for the HLA markers are on the chromosome 6, so the connection to chromosome 21 still needs to be discovered.

It's important to note that infection from Giardia, a microscopic parasite found worldwide, can mimic CD. Diagnosis of this infection is done by special tests on the stools.

What is the Treatment?

Treatment is both simple and difficult: a gluten-free diet. All wheat, barley and rye products are off limits. Currently, it is recommended that oats be also eliminated from the diet at the beginning. They can be replaced in the diet as soon as the patient is doing better. In many cases, the symptoms of CD may lessen in as early as 2 weeks. The older the child, the longer it takes to come under control. CD is a lifelong disease; symptoms may from time to time subside to the point of the CD appearing to be gone, but the person must continue on the diet to avoid illness. The person may need vitamin supplementation to complete the diet.

Follow the GAPS diet. Get extensive help here to show you how: http://www.gaps.me/preview/?page_id=28

Nursing Infants

Gluten has been found in human breast milk. This means that if a non-celiac mother is nursing a baby or a toddler with confirmed celiac disease, the mother needs to maintain a gluten-free diet.

If neither the baby nor the mother has confirmed celiac disease, the mother should continue to eat gluten, even if there is a history of celiac disease in the family, because there is a chance that exposure to gluten in breast milk will actually help the baby to develop a normal immune response to gluten.

Prognosis

In the studies, children with CD were put on a totally gluten free diet and it was reported that their complaints decreased rapidly.

CD is considered to put people involved at risk for particular intestinal cancers. And any malignant growths or tumors caused by abnormal and uncontrolled cell division can return, if they do not keep their diet. Therefore, the diet has to be maintained lifelong. This aspect makes testing for celiac disease so important. 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.

References

Information from Dr. Len Leshin, MD, FAAP, Copyright 1997 - 2004. All rights reserved

* Hilhorst MI et al. Down syndrome and coeliac disease: five new cases with a review of the literature. Eur J Pediatr 152: 884-887, 1993.
* Jansson U & Johansson C. Down syndrome and celiac disease. J Pediatr Gastroent Nutr 21:443-445, 1995.
* George EK at al. High frequency of celiac disease in Down syndrome. J Peds 128:555-557. April 1996.
* Gale L et al. Down's syndrome is strongly associated with coeliac disease. Gut 40:492-496, 1997.
* Carlsson A et al. Prevalence of IgA-antigliadin antibodies and IgA-antiendomysium antibodies related to celiac disease in children with Down syndrome. Pediatrics 101(2):272-275, Feb 1998.
* Pueschel SM et al. A prevalence study of celiac disease in persons with Down syndrome residing in the United States. Acta Paediatr 88:953-956, 1999.
* Zachor DA et al. Prevalence of celiac disease in Down syndrome in the United States. J Pediatr Gastroenterol Nutr 31(3):275-9, 2000.
* Jason SR et al. Celiac disease. Current Opin in Gastroent 17:118-126, 2001.
* Carnicer J et al. Prevalence of coeliac disease in Down's syndrome. Europ J Gastroent Hepatol 13:263-267, 2001. [study of population in Spain]
* Agardh D et al. Tissue transglutaminase autoantibodies and human leucocyte antigen in Down's syndrome patients with coeliac disease. Acta Paediatr 91:34-38, 2002.
* Hill ID et al. Guideline for the Diagnosis and Treatment of Celiac Disease in Children: Recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 40:1-19, Jan 2005.
* Hanson T et al. Antitissue transglutaminase and antithyroid autoantibodies in children with Down syndrome and celiac disease. J Pediatr Gastroenterol Nutr. 40:170-174, Feb 2005.
* Nisihara RM et al. Celiac disease in children and adolescents with Down syndrome. (Brazilian study) Jornal de Pediatria, 81:373-378, 2005.
* Swigonski NL et al. Screening for celiac disease in asymptomatic children with Down syndrome: cost-effectiveness of preventing lymphoma. Pediatrics. 118(2):594-602, Aug 2006.
* Shamaly H et al. Tissue transglutaminase antibodies are a useful serological marker for the diagnosis of celiac disease in patients with Down syndrome. J Pediatr Gastroenterol Nutr. 44(5):583-6, May 2007.
http://www.celiac.com/articles/95/1/Down-Syndrome-Celiac-Disease-Prevalent-in-Children-With-Down-Syndrome/Page1.html
http://celiacdisease.about.com/od/celiacdiseasefaqs/f/BreastMilk.htm

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First Foods: GAPS Introducing Solids

A lot of children with T21 eventually gravitate to the GAPS diet. Many parents have learned that their child thrives on it. The diet helps your child's internal digestive system heal, which may be compromised because of your diet during pregnancy or because of their own metabolic problems. Starting your baby off this way may head off a lot of problems in the future. GAPS is often used in order to prevent or treat problems such as autism, hyperactivity and attention deficit, dyslexia, dyspraxia, depression, schizophrenia, bipolar disorder, obsessive-compulsive disorder, eating disorders, epilepsy and more. This is great feeding schedule is from http://gaps.me/preview/?page_id=34 Most of my notes are italics, I did miss some of them.- Andi

Introducing solids

For a bottle fed baby, introduce solids at 4 months of age. A breast fed baby can often wait until 6 months, unless she is a very hungry baby and will need to introduce it earlier.
Solids should be introduced gradually, starting from just one very small meal a day. The rest of the meals should be breast milk or formula with some probiotic added. (Breast milk already has probiotics in it.)

First week

• Start with meat stock. To make good meat stock, simmer a piece of organic meat on the bone (whole or half a chicken) for 2 - 3 hours without adding salt or anything else to the (non chlorinated/fluoridated) water. You can make fish stock the same way using a whole fish or fish fins, bones and heads. Take the bones and meat out and sieve the stock. It can be frozen or it will keep well in the fridge for a week. 

Do not use the microwave oven for warming up or cooking, as microwaves destroy the nutrients in food. Use conventional stove or oven for warming up; you can warm up by standing the dish in some hot water.

Start from warm homemade meat stock mixed with homemade yogurt. Make sure to offer the breast only as a reward/top up after your infant had some meat stock with homemade yogurt from a bottle, a spoon or a beaker. Start from 1-2 teaspoons of the stock with ½ a teaspoon of homemade yogurt (mixed together) before every beast feed. As your baby accepts that amount, gradually increase it. Do not use commercially available soup stock granules or bullion cubes, they are highly processed and are full or detrimental ingredients such as MSG. (I do trust the bone broths from Miller's Farm and keep some frozen for emergencies.) Chicken stock is particularly gentle on the stomach. Do not take fat out of the stock; it is important for your baby to have fat with it.

• Give your baby one or two teaspoons of freshly pressed vegetable juice (mainly carrot with a dash of cabbage, celery or lettuce) mixed with some warm water between meals. Do not give her any commercially available vegetable or fruit juices; she can only have juices freshly pressed by you at home. These juices do not keep: they need to be consumed within half an hour after pressing. Try to find carrots that are hydroponically grown so that nitrites in the soil are less of an issue.

Second week

• Carry on with the previous.

• Start making vegetable soup or puree from peeled, de-seeded and well-cooked vegetables. Cook them in your homemade meat stock without adding salt or anything else. Use non-starch vegetables (no potato, sweet potato, yams or parsnips). Suitable vegetables are carrots, marrows, squashes, leeks, onions, garlic, broccoli, cauliflower, and courgettes/zucchini (peel and de-seed marrows, squashes and courgettes/zucchini). Cook the vegetables well, until very soft, cool them down to warm and puree with a little of natural fat, choosing from: a teaspoon of organic coconut oil, a teaspoon of cold pressed olive oil, 5 drops of cod liver oil, a teaspoon of ghee (made by you from unsalted organic butter) or a teaspoon of raw organic butter (unsalted!). Give your baby different fats and oils on different days. When the vegetable puree cooled down to body temperature (test by putting a little on your wrist) add one teaspoon of homemade organic yogurt. Start from 2-4 teaspoons of this puree a day and gradually increase the amount. Start from quite a liquid puree and gradually increase its thickness.

Third week

• Carry on with the previous.

• Start adding boiled meats (cooked for a long time in water and then pureed) into your baby’s vegetable soups and puree. Start from a small bit of organic chicken, gradually increase: make sure to put meat and skin from wings, legs and carcass as well as from the breast of the chicken (skin, brown meats and all the fatty bits are the most valuable for your baby). After organic chicken introduce other meats (preferably gelatinous around bones and joints) well cooked in water. The most suitable meats are the ones you used for making the meat stock: well-cooked and gelatinous.

• Keep replacing her formula milk with the soups and vegetable pure. If breast feeding, carry on topping off with breast milk after every feed.

• Increase the amount of homemade yogurt to 1-2 teaspoons with every meal.

• Introduce ripe avocado starting from a teaspoon added to her vegetable puree. Gradually increase the amount.

• Increase her intake of freshly pressed vegetable juice (mixed with water), particularly lettuce and cabbage juice added to the carrot.

Weeks 4 and 5

• Carry on with the previous.

• Start adding raw, organic egg yolk (from 100% cage free source, preferably fed with no soy) into her vegetable puree. Start from ¼ teaspoon of raw egg yolk a day. Watch for any reaction. If there is none, gradually increase the amount of raw egg yolk and start adding it to every bowl of soup or vegetable puree.

• If all the previous foods are well tolerated, try to add cooked apple as an apple puree: peel and core ripe cooking apples and stew them with a bit of water until soft. When cooked, add some butter, coconut oil or ghee to it. This apple puree will keep very well in the fridge for at least a week or it can be frozen. Warm it up to body temperature (or at least room temperature) before giving it to your baby. Start from a few teaspoonfuls a day. Watch for any reaction such as loose stool. If there is none, gradually increase the amount.

• Use more organic raw unsalted butter in your baby’s meals instead of ghee.

Weeks 6 and 7

• Carry on with the previous.

• Increase the amount of homemade yogurt to 3 teaspoons with every meal. You can start adding it to your baby’s juice and water in her bottle.

• Gradually increase raw egg yolks to 2 a day added to your baby’s soup or cups of meat stock. Increase the meat intake, particularly gelatinous meats around joints and bones (well cooked in water).

• Stop the milk formula completely. If breast-fed, then carry on.

Weeks 8 and 9

• Carry on with the previous.

• Add pancakes made with nut butter (almond butter or hazelnut butter -- not peanut-- from soaked sources), courgette or squash (peeled and blended) and eggs, starting from one small pancake a day and gradually increasing the amount. Fry them gently using ghee, coconut oil or any animal fat (which you rendered yourself from fresh meats).

• Increase the amount of freshly pressed juices. Add some yogurt to the juice. Try to add some fresh apple to the vegetable mixture.

• Add raw vegetables starting from lettuce and peeled cucumber (blended in a food processor and added to soup or vegetable puree). Again start from a tiny amount and gradually increase if well tolerated. After those two vegetables are well tolerated gradually add other raw vegetables: carrot, celery, soft cabbage, etc., finely blended.

• Introduce juice from your homemade sauerkraut, starting from one teaspoon of juice per day, squeezed from the sauerkraut and added to your baby’s soups and vegetable puree. Gradually increase the amount of juice per day to one teaspoon with every meal.

Week 10 and onwards

• Carry on with the previous.

• Try to give your baby a little bit of egg gently scrambled (or an omelet) with a generous amount of raw butter, coconut oil, ghee or any animal fat, which you rendered yourself. Serve it with avocado and raw or cooked vegetables.

• Try some ripe raw apple without the skin. *Try some ripe banana (yellow with brown spots on the skin). Fruit should be given to your baby between meals, not with meats.

• Introduce your homemade cottage cheese (made from your homemade yogurt) starting from a tiny amount and gradually increasing. To make cottage cheese from your yogurt stand the pan with the yogurt in a large bowl with hot water until yogurt separates into curds and whey. Line a large bowl with cheese cloth, pour the yogurt into it, tie the corners of the cheese cloth together and hang it for about 8 hours to drip (over night works well). You can add this cottage cheese into your baby’s meals or give it to her as a dessert with a little of cold expressed honey. When this homemade cottage cheese is fully introduced, try some raw milk.

• Try to bake bread using recipes in my book. Start from a tiny piece of bread and gradually increase the amount.

You may have to introduce some foods later than in this program depending on your baby’s sensitivities. The best indication is your baby’s stool: if she gets loose stool or constipation, take it as an indication, that she is not ready for the newly introduced food. Remove it from the diet, wait for a few weeks, then try to introduce it again. Another common reaction is any new skin rash or an eczema flare-up. If there is a serious reaction to your homemade yogurt, try to drip it and collect whey (the yellow liquid which drips out). Whey has less dairy proteins and is more easily tolerated; start from a few drops of whey a day and gradually increase the amount. When about half a cup of whey is well-tolerated introduce yogurt.

When weaning your baby, be confident and relaxed, as babies are like barometers: they sense our anxiety without words and will react accordingly. If your baby has refused a particular food now, try an hour later or tomorrow. Choose times when you are not in a hurry and can be happy and relaxed. From the beginning, embrace the wonderful mess of baby feeding: put a plastic sheet on the floor under your baby’s chair and don’t worry about where the food may fly. Always have two spoons: give one spoon to your baby and let her do with this spoon whatever she wants. Hold the second spoon yourself and use it for feeding. Over time your baby will learn to use her spoon appropriately.  

*The high saponin content of ripe bananas has the potential to increase intestinal permeability, which is a known risk factor for the development of autoimmune diseases in genetically susceptible people -- like those with T21. To date, no studies of ripe bananas have yet been conducted to see how they may affect intestinal permeability. Interestingly, consumption of green, non-ripe bananas actually improves intestinal permeability11. However, this outcome likely does not occur with ripe bananas because unlike green bananas, ripe bananas contain little or no indigestible starch – the element underlying the therapeutic effect of green bananas upon intestinal barrier function. Source: http://www.waiworld.com/waitalk/phpBB3/viewtopic.php?f=15&t=2465

Sources

http://gaps.me/preview/?page_id=34

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