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Down’s Syndrome


Down’s syndrome is a genetic abnormality caused by a defect of chromosome 21. People with Down’s syndrome are mentally retarded and suffer from a wide array of other symptoms, such as premature aging with development of Alzheimer’s disease before the age of 40, short stature and flaccid musculature, frequent infections, autoimmune disease, hypothyroidism, leukemia, and heart defects.1

Down’s syndrome is the most common genetic disorder, occurring at a rate of about one in 700 to 800 births.2


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What are the symptoms of Down’s syndrome?

Newborns with Down’s syndrome may be lethargic, rarely cry, and have extra skin around the neck. Children and adults with Down’s syndrome may have slanted eyes, flattened nose, large tongue, small ears, short fingers, and broad hands, and may have difficulty performing routine activities of daily life.

Lifestyle changes that may be helpful for down’s syndrome

A number of studies have examined the nutritional status of children with Down’s syndrome. These children consume lower amounts of calories but are more likely to be obese and to have specific nutrient deficiencies in their diets.3 4 Malabsorption is thought to contribute to the health consequences of Down’s syndrome, such as cardiovascular disease and Alzheimer’s disease, and in a small preliminary study, stool analyses showed that all of four Down’s syndrome patients examined had insufficient digestion.5 Researchers have long suggested that gluten sensitivity may be a cause for malabsorption in many Down’s syndrome patients.6 7 Many recent studies have established a link between Down’s syndrome and celiac disease.8 9 10 11 12 13 14 15 16 17 The immune systems of individuals with celiac disease produce antibodies to gliadin, a protein from wheat gluten and some other grains, and these antibodies damage the intestines resulting in malabsorption and diarrhea. The treatment for celiac disease is complete avoidance of dietary gluten. The prevalence of celiac disease among people with Down’s syndrome in these studies ranged between 3.9% and 16.9%, more than 100 times the prevalence in the general population. Antibodies to gliadin have been found to be elevated in many people with Down’s syndrome who do not express the severe symptoms of celiac disease.18 19 20 21 One study found antibodies to proteins from egg and dairy to be elevated in a high percentage of Down’s syndrome patients.22 Patients with Down’s syndrome should be evaluated by a doctor for these types of food sensitivities, as well as for celiac disease.

A comparison study found that children with Down’s syndrome were likely to have less physical activity than other children, suggesting that the condition itself may not be responsible for the tendency toward obesity.23 In another study, adults with Down’s syndrome were more likely to be obese if they had poor social connections, even after the effects of physical activity and diet were taken into account.24 People with Down’s syndrome were found to have lower muscle strength and lower bone mineral density than both healthy individuals and people with mental retardation but without Down’s syndrome. These findings have led researchers to emphasize the importance of physical training for individuals with Down’s syndrome.25 Although some studies have found that people with Down’s syndrome do not benefit as much from exercise as people without Down’s syndrome,26 27 28 intervention trials have found that those who become physically active do improve in strength and endurance.29 30 Cardiac effects of Down’s syndrome, such as mitral valve prolapse, may reduce the exercise capacity of these individuals.31 Exercise has been suggested as a preventive measure to improve blood flow to the brain and to protect against Alzheimer’s disease, because people with Down’s syndrome have a high risk for developing this disease at a young age.32 This potential benefit of exercise, however, has not yet been tested.

Nutritional supplements that may be helpful for down’s syndrome

In a double-blind trial, improvement was reported in the intellectual functioning of five children with Down’s syndrome given a daily high-potency multivitamin-mineral supplement.33 This sparked interest in further research, but in a larger double-blind trial that followed, no benefit was observed.34 A later controlled trial found that multivitamin and mineral supplementation had no greater effect than did placebo in children with Down’s syndrome.35 A review of the research found no compelling reason to give multivitamin or B vitamin supplements to people with Down’s syndrome.36

The red blood cells of people with Down’s syndrome are unusual in ways that suggest either vitamin B12 or folic acid deficiency.37 38 39 However, folic acid levels have been found to be normal in each of these studies, and only one study has found lower levels of vitamin B12 in Down’s syndrome as compared with healthy individuals.40 Intervention trials using either vitamin B12 or folic acid have not been done.

Alzheimer’s disease, cataracts, autoimmune diseases, and a general increase in the pace of aging are all seen in people with Down’s syndrome.41 These associated conditions are similar in that they involve damage to body tissues by free radicals. It is believed that the genetic defect that produces Down’s syndrome increases the need for antioxidants (nutrients that prevent free-radical damage), and several studies of blood and urine biochemistry have shown this to be true.42 43 In a preliminary study, vitamin E protected cells of people with Down’s syndrome from the oxidative damage to which they are most susceptible.44 However, blood levels of vitamin C and vitamin E, two antioxidant nutrients, have not been found to be different when compared with those of healthy individuals.45 46 The role of vitamin E and other antioxidants in treating Down’s syndrome needs further exploration.

Blood levels of the antioxidant minerals selenium and zinc were normal in one study of people with Down’s syndrome,47 but others have found selenium48 49 and zinc50 51 52 levels to be low. In some studies more than 60% of patients with Down’s syndrome had low zinc levels.53 54 A preliminary study of selenium supplementation in children with Down’s syndrome found that the antioxidant activity in the body improved; however, the implications of this finding on the long-term health of these people is unclear.55 Zinc is critical for proper immune function, and in one preliminary study the majority of patients with Down’s syndrome examined had low zinc levels and low immune cell activity. Supplementation with zinc resulted in improved immune cell activity.56 In preliminary intervention trials, improved immune cell activity was associated with reduced rates of infection in Down’s syndrome patients given supplemental zinc in the amount of 1 mg per 2.2 pounds of body weight per day.57 58 A controlled trial, however, did not find zinc, at 25 mg daily for children under 10 years of age and 50 mg for older children, to have these benefits.59 Zinc has other roles in the body; preliminary data have indicated that zinc supplementation, at 1 mg per 2.2 pounds of body weight per day, improved thyroid function in Down’s syndrome patients,60 61 62 and increased growth rate in children with Down’s syndrome.63

Acetyl-L-carnitine is a compound that occurs naturally in the brain and plays a role in the normal functioning of the nervous system. In a preliminary trial, patients with Down’s syndrome were given 500 mg of L-acetyl-carnitine three times daily for 90 days and were observed to improve in visual memory and attention. Similar improvement was not seen in untreated patients, nor in patients with mental deficiency unrelated to Down’s syndrome who were also given L-acetyl-carnitine.64 More research into the effects of L-acetyl-carnitine in people with Down’s syndrome is needed.

5-Hydroxytryptophan (5-HTP) is an amino acid used in the body to make the neurotransmitter serotonin, which affects mood and sleep. 5-HTP is produced from the amino acid tryptophan, which occurs naturally in food proteins. Early data indicated that children with Down’s syndrome have low levels of serotonin,65 and several studies showed that infants given 5-HTP experienced improvement in muscle tone and reduction of tongue protrusion.66 67 68 However, side effects from 5-HTP were common and included restlessness, diarrhea, vomiting, muscle spasms, and blood pressure elevation. One study reported seizures as a side effect of 5-HTP supplementation in infants.69 Other studies have failed to find 5-HTP beneficial.70 71 Because of the high incidence side effects and the questionable benefits, supplementation with 5-HTP in infants and children with Down’s syndrome is not recommended at this time.

Are there any side effects or interactions with down’s syndrome?

Refer to the individual supplement for information about any side effects or interactions.