Síndrome de Down

Bull MJ, Trotter T, Santoro SL, et al. Health supervision for children and adolescents with Down syndrome. Pediatrics. 2022 May 1;149(5):e2022057010.Texto completo

American College of Obstetricians and Gynecologists. Practice bulletin no. 77: screening for fetal chromosomal abnormalities. Oct 2020 [internet publication].Texto completo

1. Bull MJ. Down syndrome. N Engl J Med. 2020 Jun 11;382(24):2344-52. Resumo

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3. de Graaf G, Buckley F, Skotko BG. Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States. Am J Med Genet A. 2015 Apr;167A(4):756-67.Texto completo  Resumo

4. de Graaf G, Buckley F, Skotko BG. Estimation of the number of people with Down syndrome in the United States. Genet Med. 2017 Apr;19(4):439-47.Texto completo  Resumo

5. Hunter AGW. Down syndrome. In: Cassidy SB, Allanson JE, eds. Management of genetic syndromes, 2nd ed. Hoboken, NJ: Wiley-Liss; 2005:191-210.

6. Roubertoux PL, Kerdelhue B. Trisomy 21: from chromosomes to mental retardation. Behav Genet. 2006;36:346-54. Resumo

7. Dunn PM. Dr Langdon Down (1828-1896) and 'mongolism'. Arch Dis Child. 1991;66:827-8.Texto completo  Resumo

8. Book JA, Fraccaro M, Lindsten J. Cytogenetical observations in mongolism. Acta Paediatr. 1959;48:453-68. Resumo

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10. Gomez D, Solsona E, Guitart M, et al. Origin of trisomy 21 in Down syndrome cases from a Spanish population registry. Ann Genet. 2000;43:23-8. Resumo

11. Freeman SB, Allen EG, Oxford-Wright CL, et al. The National Down Syndrome Project: design and implementation. Public Health Rep. 2007;122:62-72.Texto completo  Resumo

12. Nussbaum R, McInnes R, Willard H, et al. Thompson & Thompson genetics in medicine, 6th ed. Philadelphia, PA: Saunders; 2004:157-79.

13. Reeves RH, Garner CC. A year of unprecedented progress in Down syndrome basic research. Ment Retard Dev Disabil Res Rev. 2007;13:215-20. Resumo

14. Salehi A, Faizi M, Belichenko PV, et al. Using mouse models to explore genotype-phenotype relationship in Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13:207-14. Resumo

15. Sherman SL, Freeman SB, Allen EG, et al. Risk factors for nondisjunction of trisomy 21. Cytogenet Genome Res. 2005;111:273-80. Resumo

16. Hook EB, Fabia JJ. Frequency of Down syndrome in livebirths by single-year maternal age interval: results of a Massachusetts study. Teratology. 1978;17:223-8. Resumo

17. Bull MJ, Trotter T, Santoro SL, et al. Health supervision for children and adolescents with Down syndrome. Pediatrics. 2022 May 1;149(5):e2022057010.Texto completo

18. Jones KL. Smith's recognizable patterns of human malformation, 6th ed. Philadelphia, PA: Elsevier Saunders; 2006:7-11.

19. Skotko B. Mothers of children with Down syndrome reflect on their postnatal support. Pediatrics. 2005;115:64-77. Resumo

20. Skotko BG, Capone GT, Kishnani PS; Down Syndrome Diagnosis Study Group. Postnatal diagnosis of Down syndrome: synthesis of the evidence on how best to deliver the news. Pediatrics. 2009;124:e751-8. Resumo

21. Skotko BG. Prenatally diagnosed Down syndrome: mothers who continued their pregnancies evaluate their health care providers. Am J Obstet Gynecol. 2005;192:670-7. Resumo

22. Skotko BG, Kishnani PS, Capone GT; Down Syndrome Diagnosis Study Group. Prenatal diagnosis of Down syndrome: how best to deliver the news. Am J Med Genet A. 2009;149A:2361-7. Resumo

23. Melyn MA, White DT. Mental and developmental milestones of noninstitutionalized Down's syndrome children. Pediatrics. 1973;52:542-5. Resumo

24. Vicari S. Motor development and neuropsychological patterns in persons with Down syndrome. Behav Genet. 2006;36:355-64. Resumo

25. Baumer N, DePillis R, Pawlowski K, et al. Developmental milestones for children with Down syndrome. Pediatrics. 2024 Oct 1;154(4):e2023065402. Resumo

26. Dykens EM, Hodapp RM, Evans DW. Profiles and development of adaptive behavior in children with Down syndrome. Am J Ment Retard. 1994;98:580-7. Resumo

27. Nicham R, Weitzdorfer R, Hauser E, et al. Spectrum of cognitive, behavioural and emotional problems in children and young adults with Down syndrome. J Neural Transm Suppl. 2003;(67):173-91. Resumo

28. Van Cleve SN, Cohen WI. Part I: clinical practice guidelines for children with Down syndrome from birth to 12 years. J Pediatr Health Care. 2006;20:47-54. Resumo

29. Peterson JK, Clarke S, Gelb BD, et al. Trisomy 21 and congenital heart disease: impact on health and functional outcomes from birth through adolescence: a scientific statement from the American Heart Association. J Am Heart Assoc. 2024 Oct;13(19):e036214.Texto completo  Resumo

30. Bermudez BEBV, de Oliveira CM, de Lima Cat MN, et al. Gastrointestinal disorders in Down syndrome. Am J Med Genet A. 2019 Aug;179(8):1426-31. Resumo

31. Public Health England. Newborn blood spot screening: programme overview. Nov 2018 [internet publication].Texto completo

32. Public Health England. Newborn hearing screening: programme overview. Nov 2016 [internet publication].Texto completo

33. Loffredo CA, Hirata J, Wilson PD, et al. Atrioventricular septal defects: possible etiologic differences between complete and partial defects. Teratology. 2001;63:87-93. Resumo

34. Shott SR, Joseph A, Heithaus D. Hearing loss in children with Down syndrome. Int J Pediatr Otorhinolaryngol. 2001;61:199-205. Resumo

35. Van Cleve SN, Cannon S, Cohen WI. Part II: clinical practice guidelines for adolescents and young adults with Down syndrome: 12 to 21 years. J Pediatr Health Care. 2006;20:198-205. Resumo

36. American College of Obstetricians and Gynecologists. Practice bulletin no. 77: screening for fetal chromosomal abnormalities. Oct 2020 [internet publication].Texto completo

37. NHS England. Screening for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome. Dec 2024 [internet publication].​Texto completo

38. Wapner R, Thom E, Simpson JL, et al. First-trimester screening for trisomies 21 and 18. N Engl J Med. 2003;349:1405-13.Texto completo  Resumo

39. Spencer K, Spencer CE, Power M, et al. Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three years prospective experience. BJOG. 2003;110:281-6.Texto completo  Resumo

40. Alldred SK, Takwoingi Y, Guo B, et al. First trimester serum tests for Down's syndrome screening. Cochrane Database Syst Rev. 2015;(11):CD011975.Texto completo  Resumo

41. Alldred SK, Takwoingi Y, Guo B, et al. First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening. Cochrane Database Syst Rev. 2017 Mar 15;3(3):CD012600.Texto completo  Resumo

42. Alldred SK, Takwoingi Y, Guo B, et al. First and second trimester serum tests with and without first trimester ultrasound tests for Down's syndrome screening. Cochrane Database Syst Rev. 2017 Mar 15;3(3):CD012599.Texto completo  Resumo

43. Malone FD, Canick JA, Ball RH, et al. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med. 2005;353:2001-11.Texto completo  Resumo

44. Smith-Bindman R, Hosmer W, Feldstein VA, et al. Second-trimester ultrasound to detect fetuses with Down syndrome: a meta-analysis. JAMA. 2001;285:1044-55. Resumo

45. Dungan JS, Klugman S, Darilek S, et al. Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 Feb;25(2):100336.Texto completo  Resumo

46. Smith M, Visootsak J. Noninvasive screening tools for Down syndrome: a review. Int J Womens Health. 2013;5:125-31.Texto completo  Resumo

47. Porreco RP, Garite TJ, Maurel K, et al. Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA. Am J Obstet Gynecol. 2014;211:365.Texto completo  Resumo

48. Badeau M, Lindsay C, Blais J et al. Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women. Cochrane Database Syst Rev. 2017 Nov 10;11:CD011767.Texto completo  Resumo

49. American College of Obstetricians and Gynecologists. Committee opinion no. 640: cell-free DNA screening for fetal aneuploidy. Obstet Gynecol. 2015;126:e31-7. Resumo

50. Winders PC. Gross motor skills in children with Down syndrome: a guide for parents and professionals. Bethesda, MD: Woodbine House; 1997:1-4.

51. Kumin L. Speech and language skills in children with Down syndrome. Ment Retard Dev Disabil. 1996;2:109-15.

52. Lemons CJ, Fuchs D. Phonological awareness of children with Down syndrome: its role in learning to read and the effectiveness of related interventions. Res Dev Disabil. 2010;31:316-30. Resumo

53. Wehman P, Hill M, Hill JW, et al. Competitive employment for persons with mental retardation: a follow-up six years later. Ment Retard. 1985;23:274-81. Resumo

54. Down Syndrome Medical Interest Group. Basic medical surveillance essentials for people with Down Syndrome: ophthalmic problems. Mar 2012. http://www.dsmig.org.uk/ (last accessed 24 Jul 2017).Texto completo

55. Down's Syndrome Medical Interest Group. Basic medical surveillance essentials for people with Down’s Syndrome: hearing impairment. Nov 2007. http://www.dsmig.org.uk/ (last accessed 24 Jul 2017).Texto completo

56. Down's Syndrome Medical Interest Group. Basic medical surveillance essentials for people with Down’s Syndrome: cardiac disease - congenital and acquired. Dec 2007. http://www.dsmig.org.uk (last accessed 24 Jul 2017).Texto completo

57. Salman M. Systematic review of the effect of therapeutic dietary supplements and drugs on cognitive function in subjects with Down syndrome. Eur J Paediatr Neurol. 2002;6:213-9. Resumo

58. Livingstone N, Hanratty J, McShane R, et al. Pharmacological interventions for cognitive decline in people with Down syndrome. Cochrane Database Syst Rev. 2015;(10):CD011546.Texto completo  Resumo

59. American College of Medical Genetics. Statement on nutritional supplements and piracetam for children with Down syndrome. 1996. http://www.acmg.net (last accessed 24 Jul 2017).Texto completo

60. National Down Syndrome Society. Vitamin therapy position statement. http://www.ndss.org (last accessed 24 Jul 2017).Texto completo

61. Fernandez F, Morishita W, Zuniga E, et al. Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome. Nat Neurosci. 2007;10:411-3. Resumo

62. Wiseman FK. Cognitive enhancement therapy for a model of Down syndrome. Sci Transl Med. 2009;18;1:7ps9. Resumo

63. Goeldner C, Kishnani PS, Skotko BG, et al. A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABA(A)-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome. J Neurodev Disord. 2022 Feb 5;14(1):10.Texto completo  Resumo

64. Baird PA, Sadovnick AD. Life expectancy in Down syndrome adults. Lancet. 1988;2:1354-6. Resumo

65. Yang Q, Rasmussen SA, Friedman JM. Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study. Lancet. 2002;359:1019-25. Resumo

66. Rasmussen SA, Wong LY, Correa A, et al. Survival in infants with Down syndrome, Metropolitan Atlanta, 1979-1998. J Pediatr. 2006;148:806-12. Resumo

67. Bittles AH, Bower C, Hussain R, et al. The four ages of Down syndrome. Eur J Public Health. 2007;17:221-5. Resumo

68. Glasson EJ, Jacques A, Wong K, et al. Improved survival in Down syndrome over the last 60 years and the impact of perinatal factors in recent decades. J Pediatr. 2016;169:214-20.Texto completo  Resumo

69. Wang Y, Liu G, Canfield MA, et al. Racial/ethnic differences in survival of United States children with birth defects: a population-based study. J Pediatr. 2015;166:819-26.Texto completo  Resumo

70. Shott SR. Down syndrome: common otolaryngologic manifestations. Am J Med Genet C Semin Med Genet. 2006;142C:131-40. Resumo

71. Shott SR, Amin R, Chini B, et al. Obstructive sleep apnea: should all children with Down syndrome be tested? Arch Otolaryngol Head Neck Surg. 2006;132:432-6.Texto completo  Resumo

72. Trois MS, Capone GT, Lutz JA, et al. Obstructive sleep apnea in adults with Down syndrome. J Clin Sleep Med. 2009;5:317-23.Texto completo  Resumo

73. Zigman WB, Lott IT. Alzheimer's disease in Down syndrome: neurobiology and risk. Ment Retard Dev Disabil Res Rev. 2007;13:237-46. Resumo

74. Santoro JD, Patel L, Kammeyer R, et al. Assessment and diagnosis of Down syndrome regression disorder: International Expert Consensus. Front Neurol. 2022 Jul 15;13:940175.Texto completo  Resumo

75. Rubenstein E, Tewolde S, Michals A, et al. Alzheimer dementia among individuals with Down syndrome. JAMA Netw Open. 2024 Sep 3;7(9):e2435018.Texto completo  Resumo

76. Cronk C, Crocker AC, Pueschel SM, et al. Growth charts for children with Down syndrome: 1 month to 18 years of age. Pediatrics. 1988;81:102-10. Resumo

77. DiGuiseppi C, Hepburn S, Davis JM, et al. Screening for autism spectrum disorders in children with Down syndrome: population prevalence and screening test characteristics. J Dev Behav Pediatr. 2010;31:181-91. Resumo

78. Capone G, Goyal P, Ares W, et al. Neurobehavioral disorders in children, adolescents, and young adults with Down syndrome. Am J Med Genet C Semin Med Genet. 2006;142C:158-72. Resumo

79. Tunstall O, Bhatnagar N, James B, et al; British Society for Haematology. Guidelines for the investigation and management of transient leukaemia of Down syndrome. Br J Haematol. 2018 Jul;182(2):200-11.Texto completo  Resumo

80. Hitzler JK, Zipursky A. Origins of leukaemia in children with Down syndrome. Nat Rev Cancer. 2005;5:11-20. Resumo

81. Goldberg-Stern H, Strawsburg RH, Patterson B, et al. Seizure frequency and characteristics in children with Down syndrome. Brain Dev. 2001;23:375-8. Resumo

82. Hasle H, Friedman JM, Olsen JH, et al. Low risk of solid tumors in persons with Down syndrome. Genet Med. 2016 Nov;18(11):1151-57.Texto completo  Resumo

83. Zemel BS, Pipan M, Stallings VA, et al. Growth charts for children with Down Syndrome in the United States. Pediatrics. 2015;136:e1204-11.Texto completo  Resumo