唐氏综合征

Bull MJ, Trotter T, Santoro SL, et al. Council on Genetics, American Academy of Pediatrics. Health supervision for children and adolescents with Down syndrome. Pediatrics. 2022;149 (5): e2022057010.全文

ACOG Committee on Practice Bulletins. ACOG practice bulletin no. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2020 Oct;136(4):e48-69. 摘要

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

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

3. 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. 摘要

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

5. Christianson AL, Kromberg JG, Viljoen E. Clinical features of Black African neonates with Down's syndrome. East Afr Med J. 1995;72:306-10. 摘要

6. 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.全文  摘要

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

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

9. Dunn PM. Dr Langdon Down (1828-1896) and 'mongolism'. Arch Dis Child. 1991;66:827-8.全文  摘要

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

11. Penrose LS. Genetical aspects of mental deficiency. Proceedings of the International Copenhagen Congress on the Scientific Study of Mental Retardation. Copenhagen, 7-14 August, 1964:165-72.

12. 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. 摘要

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

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

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

16. 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. 摘要

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

18. 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. 摘要

19. Bull MJ, Trotter T, Santoro SL, et al. Council on Genetics, American Academy of Pediatrics. Health supervision for children and adolescents with Down syndrome. Pediatrics. 2022;149 (5): e2022057010.全文

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

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

22. 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. 摘要

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

24. 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. 摘要

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

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

27. 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. 摘要

28. 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. 摘要

29. 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. 摘要

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. 摘要

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

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

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. 摘要

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

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. 摘要

36. ACOG Committee on Practice Bulletins. ACOG practice bulletin no. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2020 Oct;136(4):e48-69. 摘要

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

38. 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.全文  摘要

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

40. 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.全文  摘要

41. 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.全文  摘要

42. Smith M, Visootsak J. Noninvasive screening tools for Down syndrome: a review. Int J Womens Health. 2013;5:125-31.全文  摘要

43. 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.全文  摘要

44. 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.全文  摘要

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

46. 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.全文  摘要

47. 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. 摘要

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

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

50. 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. 摘要

51. 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. 摘要

52. 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).全文

53. 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).全文

54. 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).全文

55. 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. 摘要

56. 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.全文  摘要

57. 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).全文

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

59. 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. 摘要

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

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

62. 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. 摘要

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

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

65. 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.全文  摘要

66. 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.全文  摘要

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

68. 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.全文  摘要

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

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

71. 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. 摘要

72. 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. 摘要

73. 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. 摘要

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

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

76. 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.全文  摘要

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