Down Syndrome

What Is Down Syndrome?

[dropcap]D[/dropcap]own Syndrome is a congenital disorder (present at birth) characterized by consequence of having an extra chromosome 21 or 22.  Down syndrome is typically caused by what is called nondisjunction.

Q: What is nondisjunction?

A: Nondisjunction happens when a pair of chromosomes fails to separate during egg (or sperm) formation. When that egg unites with a normal sperm to form an embryo, that embryo ends up with three copies of chromosome 21 instead of the normal two. The extra chromosome is then copied in every cell of the baby’s body.¹

What Is Down Syndrome In Celiac Disease and/or Gluten Sensitivity?

• Down syndrome is an associated disorder of celiac disease and may be an uncommon presenting feature of untreated celiac disease.
• The effects of abnormal interaction between the immune system and gluten can be expressed not only in the gut (celiac disease) but also in the brain (psychosis) in genetically predisposed patients, such as those suffering from Down syndrome.²
• There is a high incidence of failure to thrive in children with Down syndrome.³  Zinc deficiency is a cause of failure to thrive.
• Children with Down syndrome should be carefully examined in their follow-up, and celiac disease should be considered in cases with growth retardation. All study patients with abnormal biopsy were below the 10th percentile for weight and height. Positivity of both IgA AGA and EMA serologic screening tests gave the most reliable results.³

How Prevalent Is Down Syndrome In Celiac Disease and/or Gluten Sensitivity?

The prevalence rate of celiac disease ranges from 5 to 12% of Down syndrome (1 of 600 births).

• The rate found in Malta is 8%.⁴
• The rate in Turkey is 12.77% of EMA positive patients.⁵
• In Sweden there was found a sixfold increased risk of celiac disease in individuals with Down syndrome.⁶

What Are The Symptoms Of Down Syndrome?

Down syndrome is marked by these symptoms:

• Mental retardation.
• Abnormal physical features including low ears, slanted eyes, flattened faces, short stature, and microencephaly (small skull).
• These attributes do not cause problems, but manifestations of celiac disease may be harder to identify in persons with more severe retardation having less ability to express symptoms and discomfort.
• Neurological disorders are frequent such as Alzheimer-type dementia of early onset. However, psychosis is rare in Down syndrome.

How Does Down Syndrome In Celiac Disease and/or Gluten Sensitivity Develop?

• Down Syndrome in celiac disease results from chromosomal abnormality that occurs at conception due to malabsorption of zinc which is an essential nutrient needed for reproduction.
• Zinc deficiency is a cause of failure to thrive in children with Down syndrome.

Does Down Syndrome Respond To Gluten-Free Diet?

Gluten free diet will improve the well-being of patients with Down syndrome and celiac disease.⁷

6 Steps To Improve Risk of Down Syndrome In Celiac Disease and/or Gluten Sensitivity:

• [dropcap]1[/dropcap]Remove the Trigger. Maintain a Strict, Nutritious Gluten Free Diet:

[box type=”shadow” ]Treatment. This condition responds to the complete elimination of gluten, which is the required treatment that improves both Down syndrome and gut health.

• Gut health is the foundation to restore ALL health. Restored health will enable you to maintain a strict gluten free diet, just as other life tasks will be easier.
• A strict gluten free diet means removing 100% of wheat, barley, rye and oats from the diet.
• Cutting out bread and other obvious sources of gluten is not good enough for recovery. Even 1/8th teaspoon of flour or bread crumb is enough to sustain the inflammation that is damaging your small intestine, causing increased permeability (leaky gut) and allowing undigested gluten to enter your body where it can damage structures and function, and instigate immune inflammatory responses.

Correct Your Individual Nutritional Needs.

• Eat foods that can replenish missing nutrients. Find them under NUTRIENT DEFICIENCIES.
• Take nutritional supplements as needed. Find them under NUTRIENT DEFICIENCIES.

Recovery. You should begin to feel better within a week and notice more energy as inflammation subsides and the  absorbing cells that make up the surface lining of your small intestine are better able to function.

• Intestinal lining cells are replaced every 5 days. The healing process is like sunburn where the damaged surface layer of skin sloughs off and is replaced with new normal cells.
• Leaky gut normally resolves in two month after starting a gluten free diet and brings about a big improvement in health. Improvement in intestinal permeability precedes morphometric recovery (cell appearance and structure) of the small intestine in celiac disease.⁸
• The intestinal lining may take up to a year to heal.[/box]

• [dropcap]2[/dropcap] Reduce Inflammation. Foods to Eat and Foods Not to Eat:

Because gluten is inflammatory, eliminate OTHER inflammatory foods from your diet to reduce an additive effect to gluten. At the same time, try to eat foods that reduce inflammation (anti-inflammatory).

[box type=”shadow” ]Here Are Major Inflammatory Food Types That Reduce Healing:

• Damaging Foods. In susceptible persons, includes corn, dairy (cow), and soy. Lactose, the sugar in any animal milk disrupts intestinal permeability causing leaky gut.⁹
• Allergenic Foods. Includes foods that trigger the immune sytem to produce IgE antibodies. Allergy testing is the usual way to discover these offending foods.
• Shelf Stable Processed Foods. Includes any that contain additives and preservatives. Look for them on the nutrition label of the box or package. Additives and preservatives also disrupt intestinal permeability causing leaky gut.⁹
• Fats. Limit deep fried foods, trans-fats, saturated fats (animal fat/butter), and EXCESSIVE omega-6 fatty acid oils like corn oil. Rancid fats, sodium caprate (a medium chain fat), and sucrose monester fatty acid (a food grade surfactant) induce significant disruption of the intestinal barrier that causes leaky gut.⁹.
• Excessive Refined White Flours (bran layer removed). Includes products made from them such as cookies, bread, cakes, pies. Bran contains the vitamins and minerals that metabolize grains and slows the otherwise rapid entry of sugar from their digestion into the bloodstream. Also disrupt intestinal permeability causing leaky gut.⁹
• Refined Sugars.  Includes white sugar, corn fructose and high fructose corn syrup.
• Certain Spices. Includes paprika and cayenne pepper which disrupt intestinal permeability causing leaky gut.⁹
• Alcohol and Caffeine. Disrupt intestinal permeability causing leaky gut.⁹[/box]

[box type=”shadow” ]Here Are Important Anti-Inflammatory Food Types to Promote Health:

• Fruits. Contain ample amounts of vitamins, minerals and phytochemicals which are naturally occuring components in plants that detoxify toxins, carcinogens (reducing the risk by 50%) and mutagens.
• Non-Starchy Vegetables. Support intestinal integrity and provide ample amounts of vitamins, minerals and phytochemicals. Includes green leafy vegetables such as lettuce and kale, also onion, broccoli, garlic, and others.
• High Quality Complex Carbohydrates. Provide vitamins, minerals, and fiber while boosting serotonin levels to help you relax and feel calm. Includes whole grains, legumes, and root vegetables such as carrots, parsnips, sweet potatoes, turnips, red beets, and others.
• Antioxidants. Protect the body from inflammatory oxidant molecules that continually occur and help us handle stress and reduce irritability. Includes vitamin C-containing foods such as lemon, grapefruit, apricot, Brussels sprouts and strawberries, and others. Also, includes vitamin E-containing foods such as nuts, seeds, avocado, olive oil, and others. Cocoa is good, too.
• Omega-3 Fatty Acids. Balance opposing omega-6 fatty acids and bad fats. Fish sources includes tuna, salmon, cod, and others. Plants sources include flax, chia seeds, canola oil, and others.
• Probiotics. Supply normal microbes needed for colon health and health of the body such as these fermented foods: yogurt, kefir, and unpasteurized apple cider vinegar.
• Prebiotics/ High Fiber Foods.  Food with fiber keeps our population of colonic microbes healthy.
• Protective Herbs and Spices.  See below #6 below for examples.[/box]

• [dropcap]3[/dropcap] Information Sheet You Can Take to Your Doctor or Other Health Professional:

Click here.

• [dropcap]4[/dropcap] Manage Your Medications Safely:

[box type=”shadow” ]

Certain medications deplete zinc which can cause Down syndrome at conception of an offspring. Ask your doctor or pharmacist about this possible adverse effect if you are taking any of the drugs listed below. Do not stop prescribed medications without supervision.

This is not a complete listing.

ANTACIDS / ULCER MEDICATIONS

• Pepcid®, Tagamet®, Zantac® deplete Zinc.
• Magnesium and Aluminum Antacid preparations (Gaviscon®, Maalox®, Mylanta®) deplete Zinc.

ANTIBIOTICS disrupt intestinal permeability which complicates celiac disease.

•  Tetracyclines deplete Zinc.
• Cipro depletes Zinc.

ANTI-INFLAMMATORIES disrupt intestinal permeability which complicates celiac disease.

• Corticosteroids (Prednisone, Medrol®, Aristocort®, Decadron) deplete Zinc.

ANTICONVULSANTS

• Phenobarbital and Barbituates; and Dilantin®, Tegretol®, Mysoline®, Depakane/Depacon® deplete Zinc.

ANTIVIRAL AGENTS

• Zidovudine (Retrovir®, AZT and other related drugs) deplete Zinc.

CARDIOVASCULAR DRUGS

• Antihypertensives (Catapres®, Aldomet) deplete Zinc.
• ACE Inhibitors (Capoten®, Vasotec®, Monopril® and others) deplete Zinc.

DIURETICS

• Thiazide Diuretics (Hydrochlorothiazide, Enduron®, Diuril®, Lozol®, Zaroxolyn®, Hygroton® and others) deplete Zinc.
• Loop Diuretics (Lasix®, Bumex®, Edecrin®) deplete Zinc.
• Potassium Sparing Diuretics (Midamor®, Aldactone®, Dyrenium® and others) deplete Zinc.

FEMALE HORMONES disrupt intestinal permeability which complicate celiac disease.

• Oral Contraceptives (Norinyl®, Ortho-Novum®, Triphasil®, and others) deplete Zinc.
• Oral Estrogen/Hormone Replacement (Evista®, Prempro®, Premarin®, Estratab® and others) deplete Zinc.[/box]

• [dropcap]5[/dropcap]Nutritional Supplements To Help Correct Deficiencies:

[box type=”shadow” ]

The type and quantity of nutritional supplements that may be needed depend on which nutrients are deficient.

• Multivitamin/mineral combination once a day is useful to improve overall nutrient levels. This is a safe dose, but always check with your doctor to avoid interactions with medications.
• Chelated zinc as prescribed but do not take at same time as calcium because they compete for absorption.

Storage Note: Store container tightly sealed, away from heat, moisture and direct light to avoid loss of potency. That is, in a safe kitchen cabinet – not in the bathroom or on the kitchen table.[/box]

• [dropcap]6[/dropcap]Manage Natural Remedies: 

[box type=”shadow” ]Hydration:

• Eight glasses of water are recommended per day unless there is a contraindication such as kidney or heart disease. The Institute of Medicine recommends approximately 2.7 liters (91 ounces) of total water, from all beverages and foods, each day for women and 3.7 liters (125 ounces) daily of total water for men.
• If you are thirsty, drink water. Add fresh, squeezed lemon to water. Lemon is anti-inflammatory, alkalizing and provides vitamin C.
• Hydration Test: Urine should be pale yellow. Fingertips should be plump, without pruning but this may not be reliable when fingers are swollen with edema. Lips should be plump, without puckering. The feeling of thirst can be unreliable.
• What is wrong with soda, coffee, tea, and alcohol? These drinks are dehydrating, increase acid, and deplete nutrients.[/box]

[box type=”shadow” ]Carminatives. The following  anti-inflammatory plant sources called carminitives help heal the digestive tract. They also tone the digestive muscles which improves peristalsis, thus aiding in the expulsion of gas from the stomach and intestine to relieve digestive colic and gastric discomfort.

Carminative Food Remedies:

• Raspberry.
• Carrot is also a cleansing digestive tonic.
• Grape is also bile stimulating and a cleansing remedy for sluggish digestion and laxative.
• Redbeets also stimulate and improve digestion and are easily digested.
• Cabbage also stimulates and improves digestion and is also a liver decongestant.
• Lettuce also stimulates and improves digestion and is also an alterative, meaning it improves the function of organs involved with the digestion and excretion of waste products to bring about a gradual change.
• Potatoes are antispasmodic (due to atropine like properties) and a liver remedy.

Carminative Herb Remedies:

• Sage is also a digestive, astringent, bile stimulant and energy tonic that heals the mucosa.  Drink as tea or use in cooking.
• Chamomile, lemon balm, and fennel, (as a tea) also help relieve nervous tension.
• Parsley also relieves indigestion.
• Rosemary as a tea and in cooking also is a nervous system tonic for stress and fatigue, bile stimulant, and can relieve headaches and indigestion.
• Thyme is also soothing remedy useful for stimulating digestion of rich, fatty foods.

Carminative Spice Remedies:

• Cloves are also antispasmodic.
• Nutmeg is also useful for indigestion.
• Ginger.[/box]

[box type=”shadow” ]Exercise Helps:

Exercise improves circulation and rids the body of toxins.

• Walking is aerobic exercise that reconditions the whole body to improve stamina. Read more about Exercise and Fitness.
• Weight training builds muscle. Read more about Exercise and Fitness.
• Stretching improves flexibilty. Read more about Exercise and Fitness.

Note: Exercise is important, but the amount and type of exercise undertaken depends on your health. Your first priority is to heal. [/box]

What Do Medical Research Studies Tell About Down Syndrome In Celiac Disease and/or Gluten Sensitivity?

RESEARCH STUDY SUMMARIES

“Down syndrome is associated with elevated risk of celiac disease: a nationwide case-control study.” In this nationwide Swedish case-control study, the risk of celiac disease in individuals with Down syndrome born between 1973 and 2008 was examined and found a sixfold increased risk of celiac disease in individuals with Down syndrome. Study participants consisted of 2 populations: 11,749 patients with biopsy-verified CD (villous atrophy), equivalent to Marsh grade III) who were identified through histopathology reports from the 28 pathology departments in Sweden and 53,887 population-based controls matched for sex, age, calendar year of birth, and county of residence. Prospectively recorded data from Swedish health registers was used to identify individuals with Down syndrome.

Of the 11,749 individuals with celiac disease, 165 had a diagnosis of Down syndrome (1.4%) compared with 55/53,887 controls (0.1%). This corresponded to an OR of 6.15 (95% CI = 5.09-7.43) for subsequent celiac disease in individuals with Down syndrome compared with the general population. The association between Down syndrome and celiac disease was not affected by maternal age at delivery, infant sex, or presence of type 1 diabetes mellitus in the child. This study adds precision to the previously reported association between Down syndrome and celiac disease.¹⁰

“The prevalence of coeliac disease in Down’s syndrome in Malta.” This study investigating incidence of Celiac Disease in children and adults demonstrated a much greater frequency than that in the general population. Screening in all cases of Down syndrome for Celiac Disease is recommended.¹¹

“Celiac disease in children with Down syndrome: importance of follow-up and serological screening.” This study investigating the incidence of celiac disease in children with Down syndrome, to assess the availability of IgA AGA and EMA for serologic screening, and to highlight the importance of follow-up demonstrated that children with Down syndrome should be carefully examined in their follow-up, and Celiac Disease should be considered in cases with growth retardation. All study patients with abnormal biopsy were below the 10th percentile for weight and height. Positivity of both IgA AGA and EMA serologic screening tests gave the most reliable results. Hypothyroidism was detected in one of 11 cases where at least one serologic marker was positive.¹²

CASE REPORT SUMMARIES

“Psychosis revealing a silent celiac disease in a young women with trisomy 21.” This case report describes a spectacular and lasting improvement of both psychotic and depressive symptoms in a 41-year-old woman with Down’s syndrome after 12 months of gluten-free diet. She was living with her parents and had a normal social life. She suddenly experienced some esthesic hallucinations, depression, anorexia, affective flattening and autistic behavior. Biological evaluation revealed macrocytosis, polyclonal IgA and IgG hypergammaglobulinemia and strong positivity for anti-gliadin antibodies of IgG and IgA isotypes. Brain CT scan was normal. Since digestive specimen biopsies did not evidence villous atrophy, we concluded silent celiac disease.

The effects of abnormal interaction between the immune system and gluten can be expressed not only in the gut (coeliac disease) but also in the brain (psychosis) in genetically predisposed patients, such as those suffering from Down’s syndrome. Our case report shows that, before concluding in Alzheimer-type dementia in Down’s syndrome, a biological search for celiac disease is useful since a gluten-free diet may improve the psychiatric symptoms.⁷

Sources:

1. http://learn.genetics.utah.edu/content/disorders/whataregd/down/ [↩]
2. Serratrice J, Disdier P, Kaladjian A, Granel B, Azorin JM, Laugier R, Berenguer M, Weiller PJ. Psychosis revealing a silent celiac disease in a young women with trisomy 21. Presse Med. 2002 Oct 12;31(33):1551-3. [↩]
3. Cogulu O, Ozkinay F, Gunduz C, et al. Celiac disease in children with Down syndrome: importance of follow-up and serological screening. Pediatrics International: Official Journal of the Japan Pediatric Society. Aug 2003;45(4):395-9. [↩] [↩]
4. Sciberras C, Vella C, Grech V. The prevalence of coeliac disease in Down’s syndrome in Malta. Annals of Tropical Paediatrics. Mar 2004;24(1):81-3. [↩]
5. Cogulu O, Ozkinay F, Gunduz C, et al. Celiac disease in children with Down syndrome: importance of follow-up and serological screening. Pediatrics International: Official Journal of the Japan Pediatric Society. Aug 2003;45(4):395-9. [↩]
6. Mårild K, Stephansson O, Grahnquist L, Cnattingius S, Söderman G, Ludvigsson JF. Down syndrome is associated with elevated risk of celiac disease: a nationwide case-control study. J Pediatr. 2013 Jul;163(1):237-42. doi: 10.1016/j.jpeds.2012.12.087. Epub 2013 Feb 8. [↩]
7. Serratrice J, Disdier P, Kaladjian A, Granel B, Azorin JM, Laugier R, Berenguer M, Weiller PJ. Psychosis revealing a silent celiac disease in a young women with trisomy 21. Presse Med. 2002 Oct 12;31(33):1551-3. [↩] [↩]
8. Cummins AG, Thompson FM, Butler RN, et al. Improvement in intestinal permeability precedes morphometric recovery of the small intestine in coeliac disease. Clinical Science. Apr 2001;100(4):379-86. [↩]
9. Farhadi A, Banan A, Fields J, Keshavarzian A. Intestinal barrier: an interface between health and disease. Journal of Gastroenterology and Hepatology. 2003;18:479-91. [↩] [↩] [↩] [↩] [↩] [↩]
10. Mårild K, Stephansson O, Grahnquist L, Cnattingius S, Söderman G, Ludvigsson JF. Down syndrome is associated with elevated risk of celiac disease: a nationwide case-control study. J Pediatr. 2013 Jul;163(1):237-42. doi: 10.1016/j.jpeds.2012.12.087. [↩]
11. Sciberras C, Vella C, Grech V. The prevalence of coeliac disease in Down’s syndrome in Malta. Annals of Tropical Paediatrics. Mar 2004;24(1):81-3. [↩]
12. Cogulu O, Ozkinay F, Gunduz C, et al. Celiac disease in children with Down syndrome: importance of follow-up and serological screening. Pediatrics International: Official Journal of the Japan Pediatric Society. Aug 2003;45(4):395-9. [↩]