Infantile spasms syndrome

References

Key articles

Hancock EC, Osborne JP, Edwards SW. Treatment of infantile spasms. Cochrane Database Syst Rev. 2013 Jun 5;(6):CD001770.Full text  Abstract

Go CY, Mackay MT, Weiss SK, et al; Child Neurology Society; American Academy of Neurology. Evidence-based guideline update: medical treatment of infantile spasms. Neurology. 2012 Jun 12;78(24):1974-80.Full text  Abstract

Lux AL, Edwards SW, Hancock E, et al. The United Kingdom Infantile Spasms Study (UKISS) comparing hormone treatment with vigabatrin on developmental and epilepsy outcomes to age 14 months: a multicentre randomised trial. Lancet Neurol. 2005 Nov;4(11):712-7. Abstract

National Institute for Health and Care Excellence. Epilepsies in children, young people and adults. Apr 2022 [internet publication].Full text

O'Callaghan FJ, Edwards SW, Alber FD, et al. Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial. Lancet Neurol. 2017 Jan;16(1):33-42.Full text  Abstract

Willmore LJ, Abelson MB, Ben-Menachem E, et al. Vigabatrin: 2008 update. Epilepsia. 2009 Feb;50(2):163-73. Abstract

Reference articles

1. Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia. 1989 Jul-Aug;30(4):389-99. Abstract

2. Berg AT, Berkovic SF, Brodie MJ, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia. 2010 Apr;51(4):676-85.Full text  Abstract

3. Fisher RS, Cross JH, French JA, et al. Operational classification of seizure types by the International League Against Epilepsy: position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017 Apr;58(4):522-30.Full text  Abstract

4. RamachandranNair R, Ochi A, Akiyama T, et al. Partial seizures triggering infantile spasms in the presence of a basal ganglia glioma. Epileptic Disord. 2005 Dec;7(4):378-82. Abstract

5. Drury I, Beydoun A, Garofalo EA, et al. Asymmetric hypsarrhythmia: clinical electroencephalographic and radiological findings. Epilepsia. 1995 Jan;36(1):41-7. Abstract

6. Cowan LD, Hudson LS. The epidemiology and natural history of infantile spasms. J Child Neurol. 1991 Oct;6(4):355-64. Abstract

7. Sidenvall R, Eeg-Olofsson O. Epidemiology of infantile spasms in Sweden. Epilepsia. 1995 Jun;36(6):572-4. Abstract

8. Riikonen R, Donner M. Incidence and aetiology of infantile spasms from 1960 to 1976: a population study in Finland. Dev Med Child Neurol. 1979 Jun;21(3):333-43. Abstract

9. Kalra V, Gulati S, Pandey RM, et al. West syndrome and other infantile epileptic encephalopathies: Indian hospital experience. Brain Dev. 2002 Mar;24(2):130-9. Abstract

10. Matsuo A, Matsuzaka T, Tsuru A, et al. Epidemiological and clinical studies of West syndrome in Nagasaki Prefecture, Japan. Brain Dev. 2001 Nov;23(7):575-9. Abstract

11. Cowan LD, Bodensteiner JB, Leviton A, et al. Prevalence of the epilepsies in children and adolescents. Epilepsia. 1989 Jan-Feb;30(1):94-106. Abstract

12. Happ HC, Carvill GL. A 2020 view on the genetics of developmental and epileptic encephalopathies. Epilepsy Curr. 2020 Mar;20(2):90-6.Full text  Abstract

13. Thiele EA. Managing epilepsy in tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):680-6. Abstract

14. Zeng LL, Luo R, Zhang L. Efficacy of high-dose ACTH versus low-dose ACTH in infantile spasms: a meta-analysis with direct and indirect comparison of randomized trials. J Pediatr Neurol. 2011;9(2):141-9.Full text

15. Marsh ED, Golden JA. Developing an animal model for infantile spasms: pathogenesis, problems and progress. Dis Model Mech. 2009 Jul-Aug;2(7-8):329-35.Full text  Abstract

16. Rosser TL, Acosta MT, Packer RJ. Aicardi syndrome: spectrum of disease and long-term prognosis in 77 females. Pediatr Neurol. 2002 Nov;27(5):343-6. Abstract

17. Ohtsuka Y, Tanaka A, Kobayashi K, et al. Childhood-onset epilepsy associated with polymicrogyria. Brain Dev. 2002 Dec;24(8):758-65. Abstract

18. Mathern GW, Andres M, Salamon N, et al. A hypothesis regarding the pathogenesis and epileptogenesis of pediatric cortical dysplasia and hemimegalencephaly based on MRI cerebral volumes and NeuN cortical cell densities. Epilepsia. 2007;48 Suppl 5:74-8.Full text  Abstract

19. Golomb MR, Garg BP, Williams LS. Outcomes of children with infantile spasms after perinatal stroke. Pediatr Neurol. 2006 Apr;34(4):291-5. Abstract

20. Watanabe K. West syndrome: etiological and prognostic aspects. Brain Dev. 1998 Jan;20(1):1-8. Abstract

21. Kaźmierczuk-Skubis ME, Zatorska-Karpuś M, Pac-Kozuchowska E, et al. Non-ketotic hyperglycinemia as the cause of infant seizures: the case study. Ann Univ Mariae Curie Sklodowska Med. 2004;59(1):237-41. Abstract

22. Tsuji M, Kuroki S, Maeda H, et al. Leigh syndrome associated with West syndrome. Brain Dev. 2003 Jun;25(4):245-50. Abstract

23. Shah NS, Mitchell WG, Boles RG. Mitochondrial disorders: a potentially under-recognized etiology of infantile spasms. J Child Neurol. 2002 May;17(5):369-72. Abstract

24. Soman TB, Moharir M, deVeber G, et al. Infantile spasms as an adverse outcome of neonatal cortical sinovenous thrombosis. J Child Neurol. 2006 Feb;21(2):126-31. Abstract

25. Askenasi A, Snead OC 3rd. Infantile spasms secondary to brain tumor. J Child Neurol. 1991 Apr;6(2):180-2. Abstract

26. Hancock EC, Osborne JP, Edwards SW. Treatment of infantile spasms. Cochrane Database Syst Rev. 2013 Jun 5;(6):CD001770.Full text  Abstract

27. Gibbs FA, Gibbs EL. Atlas of encephalography, vol 2: epilepsy, 2nd ed. Cambridge, MA: Addison-Wesley; 1952.

28. Yuskaitis CJ, Ruzhnikov MRZ, Howell KB, et al. Infantile spasms of unknown cause: predictors of outcome and genotype-phenotype correlation. Pediatr Neurol. 2018 Oct;87:48-56.Full text  Abstract

29. Ko A, Youn SE, Kim SH, et al. Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy. Epilepsy Res. 2018 Mar;141:48-55. Abstract

30. Symonds JD, Elliott KS, Shetty J, et al. Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants. Brain. 2021 Oct 22;144(9):2879-91.Full text  Abstract

31. Symonds JD, Zuberi SM, Stewart K, et al. Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain. 2019 Aug 1;142(8):2303-18.Full text  Abstract

32. Michaud JL, Lachance M, Hamdan FF, et al. The genetic landscape of infantile spasms. Hum Mol Genet. 2014 Sep 15;23(18):4846-58. Abstract

33. Wolff M, Cassé-Perrot C, Dravet C. Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings. Epilepsia. 2006;47 Suppl 2:45-8.Full text  Abstract

34. Vigevano F, Fusco L, Di Capua M, et al. Benign infantile familial convulsions. Eur J Pediatr. 1992 Aug;151(8):608-12. Abstract

35. Paro-Panjan D, Neubauer D. Benign neonatal sleep myoclonus: experience from the study of 38 infants. Eur J Paediatr Neurol. 2008 Jan;12(1):14-8. Abstract

36. Scheffer IE, Berkovic S, Capovilla G, et al. ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017 Apr;58(4):512-21.Full text  Abstract

37. Pellock JM, Hrachovy R, Shinnar S, et al. Infantile spasms: a U.S. consensus report. Epilepsia. 2010 Oct;51(10):2175-89.Full text  Abstract

38. Lombroso CT. A prospective study of infantile spasms: clinical and therapeutic correlations. Epilepsia. 1983 Apr;24(2):135-58. Abstract

39. Riikonen R. A long-term follow-up study of 214 children with the syndrome of infantile spasms. Neuropediatrics. 1982 Feb;13(1):14-23. Abstract

40. Go CY, Mackay MT, Weiss SK, et al; Child Neurology Society; American Academy of Neurology. Evidence-based guideline update: medical treatment of infantile spasms. Neurology. 2012 Jun 12;78(24):1974-80.Full text  Abstract

41. Shumiloff NA, Lam WM, Manasco KB. Adrenocorticotropic hormone for the treatment of West syndrome in children. Ann Pharmacother. 2013 May;47(5):744-54. Abstract

42. Hrachovy RA, Frost JD Jr, Glaze DG. High-dose, long-duration versus low-dose, short-duration corticotropin therapy for infantile spasms. J Pediatr. 1994 May;124(5 pt 1):803-6. Abstract

43. Yanagaki S, Oguni H, Hayashi K, et al. A comparative study of high-dose and low-dose ACTH therapy for West syndrome. Brain Dev. 1999 Oct;21(7):461-7. Abstract

44. Lux AL, Edwards SW, Hancock E, et al. The United Kingdom Infantile Spasms Study (UKISS) comparing hormone treatment with vigabatrin on developmental and epilepsy outcomes to age 14 months: a multicentre randomised trial. Lancet Neurol. 2005 Nov;4(11):712-7. Abstract

45. Wanigasinghe J, Arambepola C, Sri Ranganathan S, et al. Randomized, single-blind, parallel clinical trial on efficacy of oral prednisolone versus intramuscular corticotropin on immediate and continued spasm control in West syndrome. Pediatr Neurol. 2015 Sep;53(3):193-9.Full text  Abstract

46. Wanigasinghe J, Arambepola C, Ranganathan SS, et al. Randomized, single-blind, parallel clinical trial on efficacy of oral prednisolone versus intramuscular corticotropin: a 12-month assessment of spasm control in West syndrome. Pediatr Neurol. 2017 Nov;76:14-9.Full text  Abstract

47. Gowda VK, Hiremath R, Gornale V, et al. A randomized controlled trial on the study of effectiveness and safety of hormonal (ACTH) treatment alone versus hormonal (ACTH) with levetiracetam for epileptic spasms. J Neurosci Rural Pract. 2022 Jul;13(3):403-10.Full text  Abstract

48. Basit A, Noreen N, Saleem SF, et al. Comparison of efficacy and safety of low- versus high-dose oral prednisolone in infantile spasm (IS): an open label randomized controlled trial at the Children's Hospital & Institute of Child Health, Multan, Pakistan. Cureus. 2022 Mar;14(3):e23164.Full text  Abstract

49. Riikonen R. The latest on infantile spasms. Curr Opin Neurol. 2005 Apr;18(2):91-5. Abstract

50. Hancock E, Osborne JP. Vigabatrin in the treatment of infantile spasms in tuberous scerosis: literature review. J Child Neurol. 1999 Feb;14(2):71-4. Abstract

51. Appleton RE, Peters AC, Mumford JP, et al. Randomised, placebo-controlled study of vigabatrin as first-line treatment of infantile spasms. Epilepsia. 1999 Nov;40(11):1627-33. Abstract

52. Elterman RD, Shields WD, Bittman RM, et al. Vigabatrin for the treatment of infantile spasms: final report of a randomized trial. J Child Neurol. 2010 Nov;25(11):1340-7. Abstract

53. You SJ, Ahn H, Ko TS. Vigabatrin and visual field defects in pediatric epilepsy patients. J Korean Med Sci. 2006 Aug;21(4):728-32.Full text  Abstract

54. Wheless JW, Ramsay RE, Collins SD. Vigabatrin. Neurotherapeutics. 2007 Jan;4(1):163-72. Abstract

55. Spencer EL, Harding GF. Examining visual field defects in the paediatric population exposed to vigabatrin. Doc Ophthalmol. 2003 Nov;107(3):281-7. Abstract

56. Gross-Tsur V, Banin E, Shahar E, et al. Visual impairment in children with epilepsy treated with vigabatrin. Ann Neurol. 2000 Jul;48(1):60-4. Abstract

57. Maguire MJ, Hemming K, Wild JM, et al. Prevalence of visual field loss following exposure to vigabatrin therapy: a systematic review. Epilepsia. 2010 Dec;51(12):2423-31. Abstract

58. Westall CA, Wright T, Cortese F, et al. Vigabatrin retinal toxicity in children with infantile spasms: an observational cohort study. Neurology. 2014 Dec 9;83(24):2262-8.Full text  Abstract

59. Schwarz MD, Li M, Tsao J, et al. A lack of clinically apparent vision loss among patients treated with vigabatrin with infantile spasms: the UCLA experience. Epilepsy Behav. 2016 Apr;57(Pt A):29-33. Abstract

60. Fong CY, Osborne JP, Edwards SW, et al. An investigation into the relationship between vigabatrin, movement disorders, and brain magnetic resonance imaging abnormalities in children with infantile spasms. Dev Med Child Neurol. 2013 Sep;55(9):862-7. Abstract

61. Hussain SA, Tsao J, Li M, et al. Risk of vigabatrin-associated brain abnormalities on MRI in the treatment of infantile spasms is dose-dependent. Epilepsia. 2017 Apr;58(4):674-82.Full text  Abstract

62. Reyes Valenzuela G, Crespo A, Princich J, et al. Vigabatrin-associated brain abnormalities on MRI and other neurological symptoms in patients with West syndrome. Epilepsy Behav. 2022 Apr;129:108606. Abstract

63. National Institute for Health and Care Excellence. Epilepsies in children, young people and adults. Apr 2022 [internet publication].Full text

64. O'Callaghan FJ, Edwards SW, Alber FD, et al. Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial. Lancet Neurol. 2017 Jan;16(1):33-42.Full text  Abstract

65. Darke K, Edwards SW, Hancock E, et al; trial steering committee on behalf of participating investigators. Developmental and epilepsy outcomes at age 4 years in the UKISS trial comparing hormonal treatments to vigabatrin for infantile spasms: a multi-centre randomised trial. Arch Dis Child. 2010 May;95(5):382-6. Abstract

66. Lux AL, Edwards SW, Hancock E, et al. The United Kingdom Infantile Spasms Study comparing vigabatrin with prednisolone or tetracosactide at 14 days: a multicentre, randomised controlled trial. Lancet. 2004 Nov 13-19;364(9447):1773-8. Abstract

67. Song JM, Hahn J, Kim SH, et al. Efficacy of treatments for infantile spasms: a systematic review. Clin Neuropharmacol. 2017 Mar/Apr;40(2):63-84. Abstract

68. Fallah R, Salor F, Akhavan Karbasi S, et al. Randomised clinical efficacy trial of topiramate and nitrazepam in treatment of infantile spasms. Iran J Child Neurol. 2014 Winter;8(1):12-9. Abstract

69. Prezioso G, Carlone G, Zaccara G, et al. Efficacy of ketogenic diet for infantile spasms: a systematic review. Acta Neurol Scand. 2018 Jan;137(1):4-11. Abstract

70. Dressler A, Benninger F, Trimmel-Schwahofer P, et al. Efficacy and tolerability of the ketogenic diet versus high-dose adrenocorticotropic hormone for infantile spasms: a single-center parallel-cohort randomized controlled trial. Epilepsia. 2019 Mar;60(3):441-51. Abstract

71. Zhang J, Chen G, Wang J, et al. Efficacy of the ketogenic diet on ACTH- or corticosteroid-resistant infantile spasm: a multicentre prospective control study. Epileptic Disord. 2021 Apr 1;23(2):337-45. Abstract

72. Ohtsuka Y, Ogino T, Asano T, et al. Long-term follow-up of vitamin B(6)-responsive West syndrome. Pediatr Neurol. 2000 Sep;23(3):202-6. Abstract

73. Kunnanayaka V, Jain P, Sharma S, et al. Addition of pyridoxine to prednisolone in the treatment of infantile spasms: a pilot, randomized controlled trial. Neurol India. 2018 Mar-Apr;66(2):385-90. Abstract

74. Guerin A, Aziz AS, Mutch C, et al. Pyridox(am)ine-5-phosphate oxidase deficiency treatable cause of neonatal epileptic encephalopathy with burst suppression: case report and review of the literature. J Child Neurol. 2015 Aug;30(9):1218-25. Abstract

75. Chugani HT, Ilyas M, Kumar A, et al. Surgical treatment for refractory epileptic spasms: the Detroit series. Epilepsia. 2015 Dec;56(12):1941-9. Abstract

76. Willmore LJ, Abelson MB, Ben-Menachem E, et al. Vigabatrin: 2008 update. Epilepsia. 2009 Feb;50(2):163-73. Abstract

77. Riikonen R. Infantile spasms: outcome in clinical studies. Pediatr Neurol. 2020 Jul;108:54-64.Full text  Abstract

78. Osborne JP, Edwards SW, Dietrich Alber F, et al. The underlying etiology of infantile spasms (West syndrome): information from the International Collaborative Infantile Spasms Study (ICISS). Epilepsia. 2019 Sep;60(9):1861-9. Abstract

79. Granström ML, Gaily E, Liukkonen E. Treatment of infantile spasms: results of a population-based study with vigabatrin as the first drug for spasms. Epilepsia. 1999 Jul;40(7):950-7.Full text  Abstract

80. Cohen-Sadan S, Kramer U, Ben-Zeev B, et al. Multicenter long-term follow-up of children with idiopathic West syndrome: ACTH versus vigabatrin. Eur J Neurol. 2009 Apr;16(4):482-7. Abstract

81. Kivity S, Lerman P, Ariel R, et al. Long-term cognitive outcomes of a cohort of children with cryptogenic infantile spasms treated with high-dose adrenocorticotropic hormone. Epilepsia. 2004 Mar;45(3):255-62.Full text  Abstract

82. Gaily E, Lommi M, Lapatto R, et al. Incidence and outcome of epilepsy syndromes with onset in the first year of life: a retrospective population-based study. Epilepsia. 2016 Oct;57(10):1594-601.Full text  Abstract

83. Jeavons PM, Bower BD, Dimitrakoudi M. Long-term prognosis of 150 cases of "West syndrome". Epilepsia. 1973 Jun;14(2):153-64. Abstract

84. O'Callaghan FJ, Lux AL, Darke K, et al. The effect of lead time to treatment and of age of onset on developmental outcome at 4 years in infantile spasms: evidence from the United Kingdom Infantile Spasms Study. Epilepsia. 2011 Jul;52(7):1359-64.Full text  Abstract

85. Auvin S, Hartman AL, Desnous B, et al. Diagnosis delay in West syndrome: misdiagnosis and consequences. Eur J Pediatr. 2012 Nov;171(11):1695-701. Abstract

86. Primec ZR, Stare J, Neubauer D. The risk of lower mental outcome in infantile spasms increases after three weeks of hypsarrhythmia duration. Epilepsia. 2006 Dec;47(12):2202-5.Full text  Abstract

Use of this content is subject to our disclaimer