Down syndrome

References

Key articles

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. Abstract

Bull MJ; Committee on Genetics, American Academy of Pediatrics. Health supervision for children with Down syndrome. Pediatrics. 2011;128:393-406.Full text  Abstract

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. Abstract

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. Abstract

Reference articles

1. Parker SE, Mai CT, Canfield MA, et al. Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res A Clin Mol Teratol. 2010;88:1008-16. Abstract

2. Christianson AL, Kromberg JG, Viljoen E. Clinical features of Black African neonates with Down's syndrome. East Afr Med J. 1995;72:306-310. Abstract

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

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

5. Dunn PM. Dr Langdon Down (1828-1896) and 'mongolism'. Arch Dis Child. 1991;66:827-8.Full text  Abstract

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

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8. 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. Abstract

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

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

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

12. 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. Abstract

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

14. 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. Abstract

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

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

17. 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. Abstract

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

19. 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. Abstract

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

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

22. 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. Abstract

23. 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. Abstract

24. 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. Abstract

25. Bull MJ; Committee on Genetics, American Academy of Pediatrics. Health supervision for children with Down syndrome. Pediatrics. 2011;128:393-406.Full text  Abstract

26. 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. Abstract

27. 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.Full text  Abstract

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

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

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

31. 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. Abstract

32. 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. Abstract

33. ACOG Committee on Practice Bulletins. ACOG practice bulletin no. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2020 Oct;136(4):e48-e69. Abstract

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

35. 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.Full text  Abstract

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

37. 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.Full text  Abstract

38. 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.Full text  Abstract

39. Smith M, Visootsak J. Noninvasive screening tools for Down syndrome: a review. Int J Womens Health. 2013;5:125-31.Full text  Abstract

40. 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.Full text  Abstract

41. Badeau M, Lindsay C, Blais J, et al. Genomics-based non-invasive prenatal testing for detection of fetal chromosomalaneuploidy in pregnant women. Cochrane Database Syst Rev. 2017 Nov 10;11:CD011767.Full text  Abstract

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

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.Full text  Abstract

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. Abstract

45. Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016 Oct;18(10):1056-65.Full text  Abstract

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

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

48. 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. Abstract

49. 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. Abstract

50. Tsou AY, Bulova P, Capone G, et al; Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup. Medical care of adults with Down syndrome: a clinical guideline. JAMA. 2020 Oct 20;324(15):1543-56. Abstract

51. 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. Abstract

52. 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.Full text  Abstract

53. 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).Full text

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

55. 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. Abstract

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

57. 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.Full text  Abstract

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

59. 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. Abstract

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

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

62. 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.Full text  Abstract

63. 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.Full text  Abstract

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

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

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

67. 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. Abstract

68. 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. Abstract

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

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

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