DAFTAR PUSTAKA

1.

Wiseman FK, Alford KA, Tybulewicz VLJ, Fisher EM. Down syndrome-recent progress
and future prospects. Hum Mol Genet. 2009;18(1):75-83.

2.

Bull MJ. Clinical report - health supervision for children with Down syndrome.
Pediatrics. 2011;128(2):393-405.

3.

Kawanto FH, Soedjatmiko. Pemantauan tumbuh kembang anak dengan sindrom Down.
Sari Pediatri. 2007;9(3):185-90.

4.

Harasi SMA. Down syndrome in Oman: etiology, prevalence ang potential risk factors- a
cytogenetic, molecular genetic and epidemiological study. Berlin: Freie Universitat
Berlin; 2010.

5.

Myrelid A. Current knowledge on growth hormone and insulin-like growth factors and
their role in the central nervous system: growth hormone in down syndrome. Open
Endocrinol J. 2012;6(1):103-9.

6.

Kimura J, Tachibana K, Imaizumi K, Kurosawa K, Kuroki Y. Longitudinal growth and

height velocity of Japanese children with Down's syndrome. Acta Pediatr.
2003;92(9):1039-42.

7.

Clemons D. Clinical utility of measurements of insulin-like growth factor 1. Nat Clin

Pract Endocrinol Metab. 2006;2(8):436-46.

8.

Skottner A. Biosynthesis of growth hormone and insulin-like growth factor-I and the
regulation of their secretion. Open Endocrinol J. 2012;6(1):3-12.

9.

Ragusa L, Protob C, Alberti A, Romano C, Rossodivita A, Colabucci F. IGF-1 levels in

Down syndrome. Downs Syndr Res Pract. 1998;5(3):123-5.

10. Roper RJ, Reeves RH. Understanding the basis for Down sydrome phenotypes. Plos
Genet. 2006;2(3):231-6.
11. Kaur A, Kaur A. Cytogenetic findings and risk factors for Down syndrome in Punjab. Int
J Hum Genet. 2013;13(2):113-8.
12. Parker S, Mai C, Canfield M. Update 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.
13. Bittles A, Bower C, Glasson E. The four age of Down syndrome. Eur J Public Health.
2007;17(2):221-5.

14. Henderson A, Lynch S, Wilkinson S, Hunter M. Adults with Down's syndrome: the
prevalence of complications and health care in the community Br J Gen Pract.
2007;57(534):50-5.
15. Shin M, Besser LM, Kucik JE, Lu C, Siffel C, Correa A. Prevalence of Down syndrome
among children and adolescents in 10 regions of the united states. Pediatrics.
2009;124(6):1565-71.
16. Roizen NJ, Patterson D. Down's syndrome. Lancet. 2003;361:1281-89.
17. Hidajat S, Garna H, Idjradinata PS, Surjono A. Pemeriksaan dermatoglifik dan penilaian
fenotip sindrom Down sebagai uji diagnostik kariotip aberasi penuh trisomi 21. Sari
Pediatri. 2005;7(2):97-104.
18. Chen H. Down syndrome. Medscape; 2013 [updated July 15, 2013;cited 2014 January
16]; Available from: http://emedicine.medscape.com/article/943216.
19. Situmorang C. Hubungan sindrom down dengan umur ibu, pendidikan ibu, pendapatan
keluarga, dan faktor lingkungan. Jurnal Kedokteran Indonesia. 2011;2(1):96-101.
20. Malini SS, Ramachandra NB. Possible risk factors faor Down syndrome and sex
chromosomal aneuploidy in Mysore, South India. Indian J Hum Genet. 2007;13(3):1028.
21. Girirajan S. Parental-age effects in Down syndrome. J Genet. 2009;88(1):1-7.
22. Shalaby HMA. A study of new potential risk factors for Down syndrome in Upper Egypt.
Egypt J Med Hum Genet. 2011;12:15-9.
23. Bound JP, Francis BJ, Harvey PW. Down's syndrome: prevalence and ionising radiation
in an area of north west England 1957-91. J Epidemiol Community Health. 1995;49:16470.
24. Hall JG. Chromosomal clinical abnormalities. In: Behrman RE, Kliegman RM, Jenson
HB, editors. Nelson Textbook of Pediatrics. 17th ed. Pennsylvania: Saunders; 2004. p.
384-6.
25. Saenz RB. Primary care of infants and young children with Down syndrome. Am Fam
Phys. 1999;59(2):381-90.
26. Shafi BBB. Prenatal imaging finding in Down syndrome. Medscape; 2013 [updated
October

23,

2013;

cited

2014

January

16];

Available

from:

http://emedicine.medscape.com/article/402863.
27. Cleve SNV, Cohen WI. Part I: clinincal practice guidelines for children with Down
syndrome from birth to 12 years. J Pediatr Health Care. 2006;20:47-54.

28. Judarwanto W. Down syndrome: deteksi dini, pencegahan dan penatalaksanaan sindrom
down. Jakarta: Grow up Clinic Jakarta; 2010 [updated Oktober 24, 2010; cited 2014 5
Jan]; Available from: http://childrenclinic.wordpress.com/2010/10/24/down-syndromedeteksi-dini-pencegahan-dan-penatalaksanaan-sindrom-down/.
29. Korenberg JR, Chen XN, Schipper R, Sun Z, Gonsky R, Gerwehr S, et al. Down
syndrome phenotypes: the consequences of chromosomal imbalance. Proc Natl Acad Sci.
1994;91:4997-5001.
30. Marder E, Dennis J. Medical management of children with Down's syndrome. Curr
Pediatr. 2001;11:57-63.
31. Martinez-Quintana E, Rodriguez-Gonzales F, Medina-Gil JM, Agredo-Munoz J, NietoLago V. Clinical outcome in Down syndrome patients with congenital hearth disease. Cir
Cir. 2010;78(3):245-50.
32. Ghafar S, Lemler MS, Fixier DE, Ramaciotti C. Trisomy 21 and congenital heart disease:
effect of timing of initial echocardiogram. Clin Pediatr. 2005;44:39-42.
33. Sacks B, Wood A. Hearing disorders in children with Down syndrome. Downs Syndr
News Update. 2003;3(2):38-41.
34. Mitchell RB, Call E, Kelly J. Ear, nose and throat disorders in children with Down
syndrome. Laryngoscope. 2009;113(2):259-63.
35. Kusters MAA, Verstegen RHJ, Gemen EFA, Vries ED. Intrinsic defect of the immune
system in children with Down syndrome: a review. Clin Exp Immunol. 2009;156:189-93.
36. Tanuwidjaya S. Konsep umum tumbuh kembang anak. In: Narendra MB, Sularyo TS,
Soetjiningsih, Suyitno H, Ranuh IG, editors. Buku Ajar Tumbuh Kembang Anak dan
Remaja. 2nd ed. Jakarta: Sagung Seto; 2005.
37. Narendra MB. Penilaian pertumbuhan dan perkembangan. In: Narendra MB, Sularyo TS,
Soetjiningsih, Suyitno H, Ranuh IG, editors. Buku Ajar Tumbuh Kembang Anak dan
Remaja. 1st ed. Jakarta: Sagung Seto; 2002.
38. Styles ME, Cole TJ, Dennis J, Preece MA. New cross sectional stature, weight, and head
circumference references for Down's syndrome in the UK and Republic of Ireland. Arch
Dis Child. 2002;87:104-8.
39. Myrelid A, Gustafsson J, Ollars B, Anneren G. Growth charts for Down's syndrome from
birth to 18 years of age. Arch Dis Child. 2002;87:97-103.
40. Stimulasi, deteksi dan intervensi dini tumbuh kembang anak di tingkat pelayanan
kesehatan dasar. Jakarta: Departemen Kesehatan R I; 2005.

41. Cunningham C. Down syndrome: an introduction for parents and carers. 3rd ed.
Manchester: Souvenir Press; 2006.
42. Chen H. Down syndrome treatment and management. Medscape; 2013 [updated July 15,
2013;

cited

2014

16

January

2014];

Available

from:

http://emedicine.medscape.com/article/943216-treatment.
43. Ani C, Grantham-McGregor S, Muller D. Nutritional supplementation in Down
syndrome: theoritical considerations and current status. Dev Med Child Neurol.
2000;42:207-13.
44. Stem cell transplantation. Bio-cellular Research Organization; 2012 [updated July 2012;
cited

2014

16

January];

Available

from:

http://www.stem-cell-

transplantation.com/Down_Syndrome_Genetic_Diseases_Birth_Injuries.html
45. Nelson RM. Overview of FDA perspective on the ethics of stem cell therapy. US Food
and Drug Administration; 2010.
46. Puche JE, Cortazar IC. Human conditions of insulin-like growth factor-I (IGF-I)
deficiency. J Transl Med. 2012;10(224):1-29.
47. Rosen CJ. Serum insulin-like growth factors and insulin-like growth factor-binding
proteins: clinical implication. Clin Chem. 1999;45(8):1384-90.
48. Laron Z. Insulin-like growth factor (IGF-1): a growth hormone. J Clin Pathol.
2001;54:311-6.
49. Yadav S, Krishnamurthy S. Insulin like growth factors and growth hormone deficiency.
Indian Pediatr. 2007;44:349-79.
50. Gunnell D, Miller LL, Rogers I, Holly JMP. Association of insulin-like growth factor I
and insulin-like growth factor-binding protein-3 with intelegence quotient among 8- to 9year-old children in the avon longitudinal study of parents and children. Pediatrics.
2005;116(5):e681-6.
51. Lelbach A, Muzes G, Feher J. The insulin-like growth factor system: IGFs, IGF-binding
proteins and IGFBP-proteases. Acta Pharm Hung. 2005;92(2):97-107.
52. Batubara J, Triadjaja B, Pulungan A. Pertumbuhan dan gangguan pertumbuhan. Di
dalam: Buku Ajar Endokrinologi Anak. Jakarta: Badan Penerbit IDAI; 2010. p. 19-28.
53. Rossenfeld RG. Insulin-like growth factors and the basis of growth. N Engl J Med.
2003;349(23):2184-6.
54. Bosetti M, Sabbatini M, Nicoli E, Fusaro L, Cannas M. Effects and differentiation
activity of IGF-I, IGF-II, insulin and preptin on human primary bone cells. Growth
Factor. 2013;31(2):57-65.

55. D'Ercole AJ, Ye P. Expanding the mind: insulin-like growth factor-1 and brain
development. Endocrinology. 2008;149(12):5958-62.
56. Kumar PA, Brosius FC, Menon RK. The glomerular podocyte as a target of growth
hormone action: implications for the pathogenesis of diabetic nephropathy. Curr Diabetes
Rev. 2011;7(1):50-5.
57. Chisalita SI, Johansson GS, Liefvendahl E, Back K, Arngvist HJ. Human aortic smooth
muscle cells are insulin resistant at the receptor level but sensitive to IGF1 and IGF2. J
Mol Endocrinol. 2009;43(6):231-9.
58. Monzavi R, Cohen P. IGFs and IGFBPs: role in health and disease. Best Pract Res Cl En.
2002;16(3):433-47.
59. Hestnes A, Stovner LJ, Husoy O, Folling I, Sjaastad O. Somatomedin C (insulin-like
growth factor 1) in adults with Down's syndrome. J Ment Defiency Research.
1991;35:204-8.
60. Ragusa L, Valetto MR, Proto C, Alberti A, Romano C, Rossodivita A, et al. IGF-1 levels
in prepubertal and pubertal children with Down syndrome. Minerva Endocrinol.
1998;23(2):31-6.
61. Anneren G, Sara VR, Hall K, Tuvemo T. Growth and somatomedin responses to growth
hormone in Down's syndrome. Arch Dis Child. 1986;61:48-52.
62. Anneren 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.
63. Anneren G, Tuverno T, Skwirut CC, Lonnerholm T, Bang P, Sara VR. Growth hormone
treatment in young children with Down's syndrome: effects on growth and psychomotor
development. Arch Dis Child. 1999;80:334-8.
64. Torrado C, Bastian W, Wisniewski KE, Castells S. Treatment of children with Down
syndrome and growth retardation with recombinant human growth hormone. J Pediatr.
1991;119(3):478-83.
65. Myrelid A, Frisk P, Stidsberg M, Anneren G, Gustafsson J. Normal growth hormone
secretion in overweight young adults with Down syndrome. Growth Hormone and IGF
Research. 2009;20:174-8.
66. Myrelid A, Bergman S, Stromberg ME, Jonsson B, Nyberg F, Gustafsson J, et al. Late
effects of early growth hormone treatment in Down syndrome. Acta Pediatr.
2010;99:763-9.

67. Cowans NJ, Stamatopoulou A, Spencer K. First trimester maternal serum placental
growth factor in trisomy 21 pregnancies. Prenat Diagn. 2010;30:449-53.