婴儿痉挛综合征

参考文献

关键文献

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

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

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.全文  摘要

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. 摘要

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

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.全文  摘要

参考文献

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. 摘要

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.全文  摘要

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.全文  摘要

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. 摘要

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

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

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

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. 摘要

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. 摘要

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. 摘要

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. 摘要

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

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

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.全文

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.全文  摘要

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. 摘要

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

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.全文  摘要

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

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

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. 摘要

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

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. 摘要

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. 摘要

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

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

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

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

29. 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.全文  摘要

30. 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. 摘要

31. 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.全文  摘要

32. 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.全文  摘要

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

34. 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.全文  摘要

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

36. 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. 摘要

37. 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.全文  摘要

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

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

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

41. 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.全文  摘要

42. 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.全文  摘要

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

44. 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. 摘要

45. 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. 摘要

46. 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. 摘要

47. 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.全文  摘要

48. 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.全文  摘要

49. 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.全文  摘要

50. 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.全文  摘要

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

52. 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. 摘要

53. 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. 摘要

54. 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. 摘要

55. 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.全文  摘要

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

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

58. 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. 摘要

59. 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. 摘要

60. 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.全文  摘要

61. 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. 摘要

62. 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. 摘要

63. 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.全文  摘要

64. 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. 摘要

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. 摘要

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. 摘要

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. 摘要

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. 摘要

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. 摘要

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. 摘要

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. 摘要

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. 摘要

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. 摘要

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. 摘要

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. 摘要

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

77. 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.全文  摘要

78. Riikonen R. Infantile spasms: outcome in clinical studies. Pediatr Neurol. 2020 Jul;108:54-64.全文  摘要

79. 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. 摘要

80. 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.全文  摘要

81. 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. 摘要

82. 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.全文  摘要

83. 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.全文  摘要

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

85. 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.全文  摘要

86. 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. 摘要

87. 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.全文  摘要

内容使用需遵循免责声明