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Health Condition

Down Syndrome

About This Condition

Down syndrome is a genetic abnormality caused by a defect of chromosome 21. People with Down 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 syndrome is the most common genetic disorder, occurring at a rate of about one in 700 to 800 births.2

Symptoms

Newborns with Down syndrome may be lethargic, rarely cry, and have extra skin around the neck. Children and adults with Down 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.

Other Therapies

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

References

1. Reading CM. Down's syndrome: nutritional intervention. Nutr Health 1984;3:91-111 [review].

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

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

4. 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.

5. 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.

6. 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.

7. 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.

8. 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.

9. 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.

10. 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.

11. 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.

12. 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.

13. 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.

14. 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.

15. 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.

16. 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.

17. 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.

18. 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.

19. 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].

20. De la Torre R, De Sola S, Hernandez G, et al. Safety and efficacy of cognitive training plus epigallocatechin-3-gallate in young adults with Down's syndrome (TESDAD): a double-blind, randomised, placebo-controlled, phase 2 trial. Lancet Neurol 2016;15:801–10.

21. De la Torre R, De Sola S, Pons M, et al. Epigallocatechin-3-gallate, a DYRK1A inhibitor, rescues cognitive deficits in Down syndrome mouse models and in humans. Mol Nutr Food Res 2014;58:278–88.

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

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

24. 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.

25. 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.

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

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

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

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

30. Harrell RF, Capp RH, Davis DR, et al. Can nutritional supplements help mentally retarded children? An exploratory study. Proc Natl Acad Sci 1981;78:574-8.

31. 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.

32. 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.

33. 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].

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

35. 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.

36. 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.

37. 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.

38. 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.

39. 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.

40. 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.

41. 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.

42. 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.

43. 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.

44. 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.

45. 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.

46. 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.

47. 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.

48. 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.

49. 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.

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

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

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

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

54. Luke A, Sutton M, Schoeller DA, Roizen NJ. Nutrient intake and obesity in prepubescent children with Down syndrome. J Am Diet Assoc 1996;96:1262-7.

55. Chad K, Jobling A, Frail H. Metabolic rate: a factor in developing obesity in children with Down syndrome? Am J Ment Retard 1990;95:228-35.

56. Abalan F, Jouan A, Weerts MT, et al. A study of digestive absorption in four cases of Down's syndrome. Down's syndrome, malnutrition, malabsorption, and Alzheimer's disease. Med Hypotheses 1990;31:35-8.

57. Reading CM. Down's syndrome: nutritional intervention. Nutr Health 1984;3:91-111 [review].

58. Storm W. Prevalence and diagnostic significance of gliadin antibodies in children with Down syndrome. Eur J Pediatr 1990;149:833-4.

59. Zubillaga P, Vitoria JC, Arrieta A, et al. Down's syndrome and celiac disease. J Pediatr Gastroenterol Nutr 1993;16:168-71.

60. Castro M, Crino A, Papadatou B, et al. Down's syndrome and celiac disease: the prevalence of high IgA-antigliadin antibodies and HLA-DR and DQ antigens in trisomy 21. J Pediatr Gastroenterol Nutr 1993;16:265-8.

61. Jansson U, Johansson C. Down syndrome and celiac disease. J Pediatr Gastroenterol Nutr 1995;21:443-5.

62. George EK, Mearin ML, Bouquet J, et al. High frequency of celiac disease in Down syndrome. J Pediatr 1996;128:555-7.

63. George EK, Mearin ML, Bouquet J, et al. Screening for coeliac disease in Dutch children with associated diseases. Acta Paediatr Suppl 1996;412:52-3.

64. Bonamico M, Rasore-Quartino A, Mariani P, et al. Down syndrome and coeliac disease: usefulness of antigliadin and antiendomysium antibodies. Acta Paediatr 1996;85:1503-5.

65. Gale L, Wimalaratna H, Brotodiharjo A, Duggan JM. Down's syndrome is strongly associated with coeliac disease. Gut 1997;40:492-6.

66. 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.

67. Hansson T, Anneren G, Sjoberg O, et al. Celiac disease in relation to immunologic serum markers, trace elements, and HLA-DR and DQ antigens in Swedish children with Down syndrome. J Pediatr Gastroenterol Nutr 1999;29:286-92.

68. Pueschel SM, Romano C, Failla P, et al. A prevalence study of celiac disease in persons with Down syndrome residing in the United States of America. Acta Paediatr 1999;88:953-6.

69. Lazzari R, Collina A, Arena G, et al. Celiac disease in children with Down's syndrome. Pediatr Med Chir 1994;16:467-70 [in Italian].

70. Kanavin O, Scott H, Fausa O, et al. Immunological studies of patients with Down's syndrome. Measurements of autoantibodies and serum antibodies to dietary antigens in relation to zinc levels. Acta Med Scand 1988;224:473-7.

71. Sharav T, Bowman T. Dietary practices, physical activity, and body-mass index in a selected population of Down syndrome children and their siblings. Clin Pediatr 1992;31:341-4.

72. Fujiura GT, Fitzsimons N, Marks B, Chicoine B. Predictors of BMI among adults with Down syndrome: the social context of health promotion. Res Dev Disabil 1997;18:261-74.

73. Angelopoulou N, Matziari C, Tsimaras V, et al. Bone mineral density and muscle strength in young men with mental retardation (with and without Down syndrome). Calcif Tissue Int 2000;66:176-80.

74. 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.

75. Pitetti KH, Climstein M, Campbell KD, et al. The cardiovascular capacities of adults with Down syndrome: a comparative study. Med Sci Sports Exerc 1992;24:13-9.

76. Millar AL, Fernhall B, Burkett LN. Effects of aerobic training in adolescents with Down syndrome. Med Sci Sports Exerc 1993;25:270-4.

77. Peran S, Gil JL, Ruiz F, Fernandez-Pastor V. Development of physical response after athletics training in adolescents with Down's syndrome. Scand J Med Sci Sports 1997;7:283-8.

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

79. Crawford JG. Alzheimer's disease risk factors as related to cerebral blood flow. Med Hypotheses 1996;46:367-77 [review].

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The information presented by 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. Self-treatment is not recommended for life-threatening conditions that require medical treatment under a doctor's care. 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 December 2018.