EXPLORING THE CLINICAL AND ETIOLOGICAL SPECTRUM OF INFANTILE SPASMS: A COMPREHENSIVE STUDY
DOI:
https://doi.org/10.22159/ijcpr.2025v17i2.6054Keywords:
Infantile spasm, West syndrome, EpilepsyAbstract
Objective: Infantile spasm (IS) is a severe epilepsy disorder affecting infants and young children, often presenting in conjunction with West syndrome. Recognized as a true Epileptic Encephalopathy, IS was first described by West in 1841. The disorder manifests through sudden, symmetric flexion and/or extension of the body, involving both flexor and extensor spasms. IS is relatively rare, affecting approximately 1.6 to 4.5 per 10,000 live births each year, with an onset typically between 3 and 7 mo. Studies reveal a slightly higher prevalence in males, though findings vary.
Methods: The study was conducted in Department of Pediatrics, S. M. S. Medical College, Jaipur, aimed to explore the clinical and etiological dimensions of IS. The objective was to enable early diagnosis and identify potentially preventable causes of IS. A retrospective analysis of patient data was employed to examine the clinico-etiological spectrum associated with the disorder.
Results: IS shows a rare incidence and a varied age of onset, ranging from the first week of life to 4.5 y. The development of IS is influenced by diverse etiological factors such as neurocutaneous syndromes, metabolic disorders, cortical malformations, perinatal brain injuries, postnatal infections, head trauma, and genetic anomalies. The pathophysiology of IS remains elusive, with prevailing theories suggesting either nonspecific insults during critical brain development phases or disruptions in the hypothalamic-pituitary-adrenal axis.
Conclusion: Prompt diagnosis and intervention are crucial for managing infantile spasms. Hormonal therapy using corticotropin, ACTH, or steroids represents the primary treatment approach. In cases resistant to initial treatments and where structural abnormalities or neurodevelopmental regression are evident, surgical interventions may be warranted. Early identification and treatment correlate with more favorable responses and enhanced developmental outcomes. Despite this, delays in diagnosing and treating IS persist, highlighting the need for further investigation into how etiology affects treatment efficacy.
Downloads
References
Wirrell EC. Infantile spasms: diagnosis and treatment. J Child Neurol. 2017;32(8):675-80. doi: 10.1177/0883073817714606.
Lux AL, Osborne JP. A proposal for case definitions and outcome measures in studies of infantile spasms and west syndrome: consensus statement of the west delphi group. Epilepsia. 2004;45(11):1416-28. doi: 10.1111/j.0013-9580.2004.02404.x, PMID 15509243.
Pellock JM, Hrachovy R, Shinnar S, Baram TZ, Bettis D, Dlugos DJ. Infantile spasms: a U.S. consensus report. Epilepsia. 2010;51(10):2175-89. doi: 10.1111/j.1528-1167.2010.02657.x, PMID 20608959.
O Callaghan FJ, Lux AL, Darke K, Edwards SW, Hancock E, Johnson AL. The effect of lead time to treatment and of age of onset on developmental outcome at 4 y in infantile spasms: evidence from the United Kingdom infantile spasms study. Epilepsia. 2011;52(7):1359-64. doi: 10.1111/j.1528-1167.2011.03127.x, PMID 21668442.
Hayes SH, Radziwon KE, Stolzberg DJ, Salvi RJ. Behavioral models of tinnitus and hyperacusis in animals. Front Neurol. 2014 Sep 17;5:179. doi: 10.3389/fneur.2014.00179, PMID 25278931.
GO CY, Mackay MT, Weiss SK, Stephens D, Adams Webber T, Ashwal S. Evidence-based guideline update: medical treatment of infantile spasms report of the guideline development subcommittee of the American academy of neurology and the Practice Committee of the Child Neurology Society. Neurology. 2012;78(24):1974-80. doi: 10.1212/WNL.0b013e318259e2cf, PMID 22689735.
Mytinger JR, Quigg M, Taft WC, Buck ML, Rust RS. Outcomes in treatment of infantile spasms with pulse methylprednisolone. Epilepsy Res. 2012;102(1-2):103-7. doi: 10.1016/j.eplepsyres.2012.05.009.
Hancock EC, Osborne JP, Edwards SW. Treatment of infantile spasms. Cochrane Database Syst Rev. 2013 Jun 5;2013(6):CD001770. doi: 10.1002/14651858.CD001770.pub3.
Saemundsen E, Ludvigsson P, Rafnsson V. Autism spectrum disorders in children with a history of infantile spasms: a population based study. J Child Neurol. 2007;22(9):1102-7. doi: 10.1177/0883073807306251, PMID 17890408.
GO CY, Mackay MT, Weiss SK, Stephens D, Adams Webber T, Ashwal S. Evidence-based guideline update: medical treatment of infantile spasms. Report of the guideline development subcommittee of the American academy of neurology and the Practice Committee of the Child Neurology Society. Neurology. 2012;78(24):1974-80. doi: 10.1212/WNL.0b013e318259e2cf, PMID 22689735.
Lux AL, Osborne JP. A proposal for case definitions and outcome measures in studies of infantile spasms and west syndrome: consensus statement of the west delphi group. Epilepsia. 2004;45(11):1416-28. doi: 10.1111/j.0013-9580.2004.02404.x, PMID 15509243.
Riikonen R. A long term-follow up study of 214 children with the syndrome of infantile spasms. Neuropediatrics. 1982;13(1):14-23. doi: 10.1055/s-2008-1059590, PMID 6281679.
Baram TZ, Mitchell WG, Tournay A, Snead OC, Hanson RA, Horton EJ. High-dose corticotropin (ACTH) versus prednisone for infantile spasms: a prospective randomized blinded study. Pediatrics. 1996;97(3):375-9. doi: 10.1542/peds.97.3.375, PMID 8604274.
Wilmshurst JM, Gaillard WD, Vinayan KP, Tsuchida TN, Plouin P, Van Bogaert P. Summary of recommendations for the management of infantile seizures: task force report for the ilae commission of pediatrics. Epilepsia. 2015;56(8):1185-97. doi: 10.1111/epi.13057, PMID 26122601.
O Callaghan FJ, Lux AL, Darke K, Edwards SW, Hancock E, Johnson AL. The effect of lead time to treatment and of age of onset on developmental outcome at 4 y in infantile spasms: evidence from the United Kingdom Infantile Spasms Study. Epilepsia. 2011;52(7):1359-64. doi: 10.1111/j.1528-1167.2011.03127.x, PMID 21668442.
Guerrini R, Belmonte A, Canapicchi R. Idiopathic cryptogenic focal epilepsy of infancy: electroclinical picture and diagnosis. Epilepsia. 1996;37(8):764-71.
Chugani HT, Shewmon DA, Sankar R, Chen BC, Phelps ME. Infantile spasms: II. lenticular nuclei and brain stem activation on positron emission tomography. Ann Neurol. 1992;31(2):212-9. doi: 10.1002/ana.410310212, PMID 1575460.
Arzimanoglou A, Resnick TJ, Ville D. Video-EEG monitoring in a child with typical and atypical rolandic seizures and electrical status epilepticus during slow-wave sleep: implications for pathophysiology and therapy. Epileptic Disord. 2003;5(2):97-101.
Published
How to Cite
Issue
Section
Copyright (c) 2025 PRAJJWAL JAIN, AKHILESH KUMAR SHARMA, SHASHI KANT MEENA
This work is licensed under a Creative Commons Attribution 4.0 International License.