Down Syndrome Questions & Answers

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10. Ranweiler R. Assessment and care of the newborn with Down syndrome. Adv Neonatal Care. 2009 Feb. 9(1):17-24; Quiz 25-6. [QxMD MEDLINE Link].

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18. Coppus AM, Evenhuis HM, Verberne GJ, et al. Survival in elderly persons with Down syndrome. J Am Geriatr Soc. 2008 Dec. 56(12):2311-6. [QxMD MEDLINE Link].

19. Hartley D, Blumenthal T, Carrillo M, et al. Down syndrome and Alzheimer's disease: common pathways, common goals. Alzheimers Dement. 2015 Jun. 11 (6):700-9. [QxMD MEDLINE Link]. [Full Text].

20. Matthews TJ, Allain DC, Matthews AL, Mitchell A, Santoro SL, Cohen L. An assessment of health, social, communication, and daily living skills of adults with down syndrome. Am J Med Genet A. 2018 Apr 25. [QxMD MEDLINE Link].

21. [Guideline] Cohen WI, ed. Health care guidelines for individuals with Down syndrome (Down syndrome preventative medical check list). Down Syndrome Q. 1996. 1(2):1-10. [Full Text].

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23. Kusters MA, Verstegen RH, Gemen EF, de Vries E. Intrinsic defect of the immune system in children with Down syndrome: a review. Clin Exp Immunol. 2009 May. 156(2):189-93. [QxMD MEDLINE Link]. [Full Text].

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30. Wilms A, Dummer R. [Elastosis perforans serpiginosa in Down syndrome]. Hautarzt. 1997 Dec. 48(12):923-5. [QxMD MEDLINE Link].

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34. Postolache L, Parsa A, Simoni P, et al. Widespread kidney anomalies in children with Down syndrome. Pediatr Nephrol. 2022 Feb 3. [QxMD MEDLINE Link].

35. Zemel BS, Pipan M, Stallings VA, et al. Growth Charts for Children With Down Syndrome in the United States. Pediatrics. 2015 Nov. 136 (5):e1204-11. [QxMD MEDLINE Link]. [Full Text].

36. Annerén G, Gustavson KH, Sara VR, Tuvemo T. Growth retardation in Down syndrome in relation to insulin-like growth factors and growth hormone. Am J Med Genet Suppl. 1990. 7:59-62. [QxMD MEDLINE Link].

37. Bertapelli F, Pitetti K, Agiovlasitis S, Guerra-Junior G. Overweight and obesity in children and adolescents with Down syndrome-prevalence, determinants, consequences, and interventions: a literature review. Res Dev Disabil. 2016 Oct. 57:181-92. [QxMD MEDLINE Link].

38. Popova G, Paterson WF, Brown A, Donaldson MD. Hashimoto's thyroiditis in Down's syndrome: clinical presentation and evolution. Horm Res. 2008. 70(5):278-84. [QxMD MEDLINE Link].

39. Shalitin S, Phillip M. Autoimmune thyroiditis in infants with Down’s syndrome. J Pediatr Endocrinol. 2002. 15:649-652.

40. Idris I, O’Malley BP. Thyrotoxicosis in Down’s and Turner’s syndromes: the likelihood of Hashimoto’s thyroiditis as the underlying aetiology. Int J Clin Pract. 2000. 54:272-273.

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42. Zwaan MC, Reinhardt D, Hitzler J, Vyas P. Acute leukemias in childrenwith Down syndrome. Pediatr Clin N Am. 2008. 55:53-70.

43. Lerner LH, Wiss K, Gellis S, Barnhill R. An unusual pustular eruption in an infant with Down syndrome and a congenital leukemoid reaction. J Am Acad Dermatol. 1996 Aug. 35(2 Pt 2):330-3. [QxMD MEDLINE Link].

44. Hitzler JK, Zipursky A. Origins of leukaemia in children with Down syndrome. Nat Rev Cancer. 2005 Jan. 5(1):11-20. [QxMD MEDLINE Link].

45. Li Z, Godinho FJ, Klusmann JH, Garriga-Canut M, Yu C, Orkin SH. Developmental stage-selective effect of somatically mutated leukemogenic transcription factor GATA1. Nat Genet. 2005 Jun. 37(6):613-9. [QxMD MEDLINE Link].

46. Magalhaes IQ, Splendore A, Emerenciano M, et al. Transient neonatal myeloproliferative disorder without Down syndrome and detection of GATA1 mutation. J Pediatr Hematol Oncol. 2005 Jan. 27(1):50-2. [QxMD MEDLINE Link].

47. Ahmed M, Sternberg A, Hall G, et al. Natural history of GATA-1 mutations in Down syndrome. Blood. 2004. 103:2480-2489.

48. Bhatt S, Schreck R, Graham JM, Korenberg JR, Hurvitz CG, Fischel-Ghodsian N. Transient leukemia with trisomy 21: description of a case and review of the literature. Am J Med Genet. 1995 Sep 25. 58(4):310-4. [QxMD MEDLINE Link].

49. Roderick JA, Bradshaw WT. Transient myeloproliferative disorder in a newborn with Down syndrome. Adv neonat Care. 2008. 8:208-218.

50. Gamis A, Hilden J. Transient myleoproliferative disorder with too few data and many unanswered questions: does it contain an important piece of the puzzle to understanding hemataopoiesis and acute myelogenous leukemia?. J Pediatr Hematol Oncol. 2002. 24:2-5.

51. Ma SK, Wan TS, Chan GC, Ha SY, Fung LF, Chan LC. Relationship between transient abnormal myelopoiesis and acute megakaryoblastic leukaemia in Down's syndrome. Br J Haematol. 2001 Mar. 112(3):824-5. [QxMD MEDLINE Link].

52. Taub J. Down syndrome and megakaryocytic leukemia/transient myeloproliferative disorder: when does it begin?. Blood. 2003. 101:4228-4300.

53. Al Kasim F, Doyle JJ, Massey GV, et al. Incidence and treatment of potentially lethal diseasesin transient leukemia of Down syndrome: Pediatric Oncology Group Study. J Pediatr Hematol Oncol. 2002. 24:9-13.

54. Massey GV, Zipursky A, Chang MN, Doyle JJ, Nasim S, Taub JW. A prospective study of the natural history of transient leukemia (TL) in neonates with Down syndrome (DS): Children's Oncology Group (COG) study POG-9481. Blood. 2006 Jun 15. 107(12):4606-13. [QxMD MEDLINE Link].

55. Krivit W, Good RA. The simultaneous occurrence of leukemia and mongolism; report offour cases. AMA J Dis Child. 1956. 91:218-222.

56. Hasle H, Clemmensen IH, Mikkelsen M. Risks of leukaemia and solid tumours in individuals with Down's syndrome. Lancet. 2000 Jan 15. 355(9199):165-9. [QxMD MEDLINE Link].

57. Jensen KM, Bulova PD. Managing the care of adults with Down's syndrome. BMJ. 2014 Sep 30. 349:g5596. [QxMD MEDLINE Link].

58. Ringman JM, Rao N, Lu PH, Cederbaum S. Mosaicism for trisomy 21 in a patient with young-onset dementia. A case report and brief literature review. Arch Neurol. 2008. 65:412-415.

59. Papavassiliou P, York TP, Gursoy N, Hill G, Nicely LV, Sundaram U. The phenotype of persons having mosaicism for trisomy 21/Down syndrome reflects the percentage of trisomic cells present in different tissues. Am J Med Genet A. 2009 Feb 15. 149A(4):573-83. [QxMD MEDLINE Link].

60. Baum RA, Nash PL, Foster JE, Spader M, Ratliff-Schaub K, Coury DL. Primary care of children and adolescents with down syndrome: an update. Curr Probl Pediatr Adolesc Health Care. 2008 Sep. 38(8):241-61. [QxMD MEDLINE Link].

61. Colvin KL, Yeager ME. What people with Down Syndrome can teach us about cardiopulmonary disease. Eur Respir Rev. 2017 Jan. 26 (143):[QxMD MEDLINE Link]. [Full Text].

62. McDowell KM, Craven DI. Pulmonary complications of Down syndrome during childhood. J Pediatr. 2011 Feb. 158 (2):319-25. [QxMD MEDLINE Link].

63. Alimi A, Taytard J, Abou Taam R, et al. Pulmonary hemosiderosis in children with Down syndrome: a national experience. Orphanet J Rare Dis. 2018 Apr 20. 13 (1):60. [QxMD MEDLINE Link]. [Full Text].

64. Liyanage S, Barnes J. The eye and Down's syndrome. Br J Hosp Med (Lond). 2008 Nov. 69(11):632-4. [QxMD MEDLINE Link].

65. Miyazaki EA. The orthoptics of Down syndrome. Am Orthopt J. 2014. 64:12-6. [QxMD MEDLINE Link].

66. Rabin KR, Whitlock JA. Malignancy in children with trisomy 21. Oncologist. 2009 Feb. 14(2):164-73. [QxMD MEDLINE Link]. [Full Text].

67. Bhatnagar N, Nizery L, Tunstall O, Vyas P, Roberts I. Transient Abnormal Myelopoiesis and AML in Down Syndrome: an Update. Curr Hematol Malig Rep. 2016 Oct. 11 (5):333-41. [QxMD MEDLINE Link]. [Full Text].

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69. Mik G, Gholve PA, Scher DM, Widmann RF, Green DW. Down syndrome: orthopedic issues. Curr Opin Pediatr. 2008 Feb. 20(1):30-6. [QxMD MEDLINE Link].

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Gratias Tom Mundakel, MBBS, DCH Attending Neonatologist, Kings County Hospital; Clinical Assistant Professor, Department of Pediatrics, State University of New York Downstate Medical Center

Gratias Tom Mundakel, MBBS, DCH is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Purushottam Lal, MD Resident Physician, Department of Pediatrics, Children's Hospital at SUNY Downstate

Purushottam Lal, MD is a member of the following medical societies: Delhi Medical Council, Indian Academy of Pediatrics

Disclosure: Nothing to disclose.

Lois J Starr, MD, FAAP Assistant Professor of Pediatrics, Clinical Geneticist, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center

Lois J Starr, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Harold Chen, MD, MS, FAAP, FACMG Professor, Department of Pediatrics, Louisiana State University Medical Center

Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics

Disclosure: Nothing to disclose.

Michael M Henry, MD Fellow in Neonatal/Perinatal Medicine, Children’s Hospital at SUNY Downstate Medical Center

Michael M Henry, MD is a member of the following medical societies: Brooklyn Pediatric Society

Disclosure: Nothing to disclose.

James Bowman, MD Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago

James Bowman, MD is a member of the following medical societies: Alpha Omega Alpha, American Society for Clinical Pathology, American Society of Human Genetics, Central Society for Clinical Research, and College of American Pathologists

Disclosure: Nothing to disclose.

David Flannery, MD, FAAP, FACMG Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia

David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics

Disclosure: Nothing to disclose.

Mary L Windle, PharmD, Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

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