Down’s Syndrome, Trisomy 21

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Down’s Syndrome

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Also indexed as: Trisomy 21

Enjoy a higher quality of life by managing the medical conditions often associated with this genetic disease. According to research or other evidence, the following self-care steps may be helpful:

Think zinc
With a healthcare provider's supervision, improve immune function, reduce infection rates, and stimulate growth by taking 1 mg per 2.2 pounds of body weight per day, along with a copper supplement

Get some extra E
Check with a nutritional health professional for advice on taking 100 to 400 IU per day vitamin E to improve antioxidant protection

Discover acetyl-L-carnitine
Take 500 mg of this nutritional supplement three times per day to improve visual memory and attention

Get a checkup
Work with a qualified healthcare provider to find out if celiac disease or other causes of food sensitivities may be compromising nutritional health

Work in a workout
Increase physical activity to improve strength and endurance that can be compromised in people with Down’s syndrome

These recommendations are not comprehensive and are not intended to replace the advice of your doctor or pharmacist. Continue reading the full Down’s syndrome article for more in-depth, fully-referenced information on medicines, vitamins, herbs, and dietary and lifestyle changes that may be helpful.

About Down’s syndrome

Down’s syndrome is a genetic abnormality caused by a defect of chromosome 21. People with Down’s syndrome have varying degrees of cognitive and developmental disabilities 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

Product ratings for Down’s syndrome

Science Ratings	Nutritional Supplements	Herbs
	Zinc
	Acetyl-L-Carnitine Vitamin E
	Folic acid Multivitamin Selenium Vitamin B12
Reliable and relatively consistent scientific data showing a substantial health benefit. Contradictory, insufficient, or preliminary studies suggesting a health benefit or minimal health benefit. For an herb, supported by traditional use but minimal or no scientific evidence. For a supplement, little scientific support and/or minimal health benefit.

What are the symptoms?

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.

Medical options

Treatment consists of management of medical conditions associated with this syndrome, such as thyroid deficiency, cardiac malformations, hearing loss, and difficulties with vision.

Lifestyle changes that may be helpful

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.

Vitamins that may be helpful

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

References:

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2. Teksen F, Sayli BS, Aydin A, et al. Antioxidative metabolism in Down syndrome. Biol Trace Elem Res 1998;63:123–7.

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21. Carlsson A, Axelsson I, Borulf S, et al. Prevalence of IgA-antigliadin antibodies and IgA-antiendomysium antibodies related to celiac disease in children with Down syndrome. Pediatrics 1998;101:272–5.

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26. Eberhard Y, Eterradossi J, Therminarias A. Biochemical changes and catecholamine responses in Down’s syndrome adolescents in relation to incremental maximal exercise. J Ment Defic Res 1991;35:140–6.

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31. Pueschel SM, Werner JC. Mitral valve prolapse in persons with Down syndrome. Res Dev Disabil 1994;15:91–7.

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34. Smith GF, Spiker D, Peterson CP, et al. Use of megadoses of vitamins and minerals in Down’s syndrome. J Pediatr 1984;105:228–34.

35. Bidder RT, Gray P, Newcombe RG, et al. The effects of multivitamins and minerals on children with Down syndrome. Dev Med Child Neurol 1989;31:532–7.

36. Kleijnen J, Knipschild P. Niacin and vitamin B6 in mental functioning: a review of controlled trials in humans. Biol Psychiatry 1991;29:931–41 [review].

37. Roizen NJ, Amarose AP. Hematologic abnormalities in children with Down syndrome. Am J Med Genet 1993;46:510–2.

38. David O, Fiorucci GC, Tosi MT, et al. Hematological studies in children with Down syndrome. Pediatr Hematol Oncol 1996;13:271–5.

39. Ibarra B, Rivas F, Medina C, et al. Hematological and biochemical studies in children with Down syndrome. Ann Genet 1990;33:84–7.

40. Hestnes A, Stovner LJ, Husoy O, et al. Hormonal and biochemical disturbances in Down’s syndrome. J Ment Defic Res 1991;35:179–93.

41. Jovanovic SV, Clements D, MacLeod K. Biomarkers of oxidative stress are significantly elevated in Down syndrome. Free Radic Biol Med 1998;25:1044–8.

42. Jovanovic SV, Clements D, MacLeod K. Biomarkers of oxidative stress are significantly elevated in Down syndrome. Free Radic Biol Med 1998;25:1044–8.

43. Bras A, Monteiro C, Rueff J. Oxidative stress in trisomy 21. A possible role in cataractogenesis. Ophthalmic Paediatr Genet 1989;10:271–7.

44. Pincheira J, Navarrete MH, de la Torre C, et al. Effect of vitamin E on chromosomal aberrations in lymphocytes from patients with Down’s syndrome. Clin Genet 1999;55:192–7.

45. Bras A, Monteiro C, Rueff J. Oxidative stress in trisomy 21. A possible role in cataractogenesis. Ophthalmic Paediatr Genet 1989;10:271–7.

46. Metcalfe T, Bowen DM, Muller DP. Vitamin E concentrations in human brain of patients with Alzheimer’s disease, fetuses with Down’s syndrome, centenarians, and controls. Neurochem Res 1989;14:1209–12.

47. Teksen F, Sayli BS, Aydin A, et al. Antioxidative metabolism in Down syndrome. Biol Trace Elem Res 1998;63:123–7.

48. Kadrabova J, Madaric A, Sustrova M, Ginter E. Changed serum trace element profile in Down’s syndrome. Biol Trace Elem Res 1996;54:201–6.

49. Neve J, Sinet PM, Molle L, Nicole A. Selenium, zinc and copper in Down’s syndrome (trisomy 21): blood levels and relations with glutathione peroxidase and superoxide dismutase. Clin Chim Acta 1983;133:209–14.

50. Purice M, Maximilian C, Dumitriu I, Ioan D. Zinc and copper in plasma and erythrocytes of Down’s syndrome children. Endocrinologie 1988;26:113–7.

51. Bruhl HH, Foni J, Lee YH, Madow A. Plasma concentrations of magnesium, lead, lithium, copper, and zinc in mentally retarded persons. Am J Ment Defic 1987;92:103–11.

52. Anneren G, Johansson E, Lindh U. Trace element profiles in individual blood cells from patients with Down’s syndrome. Acta Paediatr Scand 1985;74:259–63.

53. Stabile A, Pesaresi MA, Stabile AM, et al. Immunodeficiency and plasma zinc levels in children with Down’s syndrome: a long-term follow-up of oral zinc supplementation. Clin Immunol Immunopathol 1991;58:207–16.

54. Anneren G, Gebre-Medhin M. Trace elements and transport proteins in serum of children with Down syndrome and of healthy siblings living in the same environment. Hum Nutr Clin Nutr 1987;41:291–9.

55. Antila E, Nordberg UR, Syvaoja EL, Westermarck T. Selenium therapy in Down syndrome (DS): a theory and a clinical trial. Adv Exp Med Biol 1990;264:183–6.

56. Stabile A, Pesaresi MA, Stabile AM, et al. Immunodeficiency and plasma zinc levels in children with Down’s syndrome: a long-term follow-up of oral zinc supplementation. Clin Immunol Immunopathol 1991;58:207–16.

57. Licastro F, Chiricolo M, Mocchegiani E, et al. Oral zinc supplementation in Down’s syndrome subjects decreased infections and normalized some humoral and cellular immune parameters. J Intellect Disabil Res 1994;38:149–62.

58. Franceschi C, Chiricolo M, Licastro F, et al. Oral zinc supplementation in Down’s syndrome: restoration of thymic endocrine activity and of some immune defects. J Ment Defic Res 1988;32:169–81.

59. Lockitch G, Puterman M, Godolphin W, et al. Infection and immunity in Down syndrome: a trial of long-term low oral doses of zinc. J Pediatr 1989;114:781–7.

60. Bucci I, Napolitano G, Giuliani C, et al. Zinc sulfate supplementation improves thyroid function in hypozincemic Down children. Biol Trace Elem Res 1999;67:257–68.

61. Licastro F, Mocchegiani E, Zannotti M, et al. Zinc affects the metabolism of thyroid hormones in children with Down’s syndrome: normalization of thyroid stimulating hormone and of reversal triiodothyronine plasmic levels by dietary zinc supplementation. Int J Neurosci 1992;65:259–68.

62. Napolitano G, Palka G, Lio S, et al. Is zinc deficiency a cause of subclinical hypothyroidism in Down syndrome? Ann Genet 1990;33:9–15.

63. Napolitano G, Palka G, Grimaldi S, et al. Growth delay in Down syndrome and zinc sulphate supplementation. Am J Med Genet Suppl 1990;7:63–5.

64. De Falco FA, D’Angelo E, Grimaldi G, et al. Effect of the chronic treatment with L-acetylcarnitine in Down’s syndrome. Clin Ter 1994;144:123–7 [in Italian].

65. Bazelon M, Paine RS, Coeiw VA, et al. Reversal of hypotonia in infants with Down’s syndrome by administration of 5-hydroxytryptophan. Lancet 1967;1:1130–3.

66. Bazelon M, Paine RS, Coeiw VA, et al. Reversal of hypotonia in infants with Down’s syndrome by administration of 5-hydroxytryptophan. Lancet 1967;1:1130–3.

67. Coleman M. Infantile spasms associated with 5-hydroxytryptophan administration in patients with Down’s syndrome. Neurology 1971;21:911–9.

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69. Coleman M. Infantile spasms associated with 5-hydroxytryptophan administration in patients with Down’s syndrome. Neurology 1971;21:911–9.

70. Partington MW, MacDonald MR. 5-hydroxytryptophan (5-HTP) in Down’s syndrome. Dev Med Child Neurol 1971;13:362–72.

71. Weise P, Koch R, Shaw KN, Rosenfeld MJ. The use of 5-HTP in the treatment of Down’s syndrome. Pediatrics 1974;54:165–8.

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The information presented in Truestar Healthnotes is for informational purposes only. It is based on scientific studies (human, animal, or in vitro), clinical experience, or traditional usage as cited in each article. The results reported may not necessarily occur in all individuals. For many of the conditions discussed, treatment with prescription or over-the-counter medication is also available. Consult your doctor, practitioner, and/or pharmacist for any health problem and before using any supplements or before making any changes in prescribed medications. Information expires September 2014.