Infantile spasms: A U.S. consensus report

The diagnosis, evaluation, and management of infantile spasms (IS) continue to pose significant challenges to the treating physician. Although an evidence‐based practice guideline with full literature review was published in 2004, diversity in IS evaluation and treatment remains and highlights the need for further consensus to optimize outcomes in IS. For this purpose, a working group committed to the diagnosis, treatment, and establishment of a continuum of care for patients with IS and their families—the Infantile Spasms Working Group (ISWG)—was convened. The ISWG participated in a workshop for which the key objectives were to review the state of our understanding of IS, assess the scientific evidence regarding efficacy of currently available therapeutic options, and arrive at a consensus on protocols for diagnostic workup and management of IS that can serve as a guide to help specialists and general pediatricians optimally manage infants with IS. The overall goal of the workshop was to improve IS outcomes by assisting treating physicians with early recognition and diagnosis of IS, initiation of short duration therapy with a first‐line treatment, timely electroencephalography (EEG) evaluation of treatment to evaluate effectiveness, and, if indicated, prompt treatment modification. Differences of opinion among ISWG members occurred in areas where data were lacking; however, this article represents a consensus of the U.S. approach to the diagnostic evaluation and treatment of IS.

[1]  P. Curatolo,et al.  Early control of seizures improves long-term outcome in children with tuberous sclerosis complex. , 2010, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[2]  M. Wong Mammalian target of rapamycin (mTOR) inhibition as a potential antiepileptogenic therapy: From tuberous sclerosis to common acquired epilepsies , 2010, Epilepsia.

[3]  R. Riikonen,et al.  Favourable prognostic factors with infantile spasms. , 2008, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[4]  M. D. Del Bigio,et al.  Pathological Evidence of Vacuolar Myelinopathy in a Child Following Vigabatrin Administration , 2009, Journal of child neurology.

[5]  R. Kuzniecky,et al.  Guidelines for imaging infants and children with recent‐onset epilepsy , 2009, Epilepsia.

[6]  Katsuya Yamamoto,et al.  Reduced levels of interleukin-1 receptor antagonist in the cerebrospinal fluid in patients with West syndrome , 2009, Epilepsy Research.

[7]  C. Westall,et al.  Reduced grating acuity associated with retinal toxicity in children with infantile spasms on vigabatrin therapy. , 2009, Investigative ophthalmology & visual science.

[8]  S. Christian,et al.  Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. , 2009, Brain : a journal of neurology.

[9]  L. Zeng,et al.  The Mammalian Target of Rapamycin Signaling Pathway Mediates Epileptogenesis in a Model of Temporal Lobe Epilepsy , 2009, The Journal of Neuroscience.

[10]  O. Snead,et al.  Infantile Spasms and Down Syndrome: A New Animal Model , 2009, Pediatric Research.

[11]  C. Stafstrom Infantile Spasms: A Critical Review of Emerging Animal Models , 2009, Epilepsy currents.

[12]  E. Kossoff,et al.  High-dose oral prednisolone for infantile spasms: An effective and less expensive alternative to ACTH , 2009, Epilepsy & Behavior.

[13]  L. Folio,et al.  Tuberous Sclerosis with Epilepsy , 2009 .

[14]  E. Gaily,et al.  Visual fields at school‐age in children treated with vigabatrin in infancy , 2009, Epilepsia.

[15]  H. Goodkin,et al.  Cerebral MRI abnormalities associated with vigabatrin therapy , 2009, Epilepsia.

[16]  L. Carmant,et al.  Magnetic resonance imaging abnormalities associated with vigabatrin in patients with epilepsy , 2009, Epilepsia.

[17]  L. James Willmore,et al.  Vigabatrin: 2008 Update , 2009, Epilepsia.

[18]  E. Saemundsen,et al.  Risk of autism spectrum disorders after infantile spasms: A population‐based study nested in a cohort with seizures in the first year of life , 2008, Epilepsia.

[19]  L. Zou,et al.  Genetic polymorphisms of MC2R gene associated with responsiveness to adrenocorticotropic hormone therapy in infantile spasms. , 2008, Chinese medical journal.

[20]  E. Kossoff,et al.  A case‐control evaluation of the ketogenic diet versus ACTH for new‐onset infantile spasms , 2008, Epilepsia.

[21]  N. Sharma,et al.  Outcome in West syndrome. , 2008, Indian pediatrics.

[22]  J. Cross,et al.  The ketogenic diet for the treatment of childhood epilepsy: a randomised controlled trial , 2008, The Lancet Neurology.

[23]  D. Gutmann,et al.  Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex , 2008, Annals of neurology.

[24]  A. Algra,et al.  Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations , 2008, Neurology.

[25]  P. Čičovački SOCIETY , 2008, Society.

[26]  J. Frost,et al.  A new animal model of infantile spasms with unprovoked persistent seizures , 2008, Epilepsia.

[27]  M. Conway,et al.  Visual Field Severity Indices Demonstrate Dose‐Dependent Visual Loss from Vigabatrin Therapy , 2008, Epilepsia.

[28]  A. Zaslavsky,et al.  The Financial Implications of Availability and Quality of a Usual Source of Care for Children with Special Health Care Needs , 2008, Maternal and Child Health Journal.

[29]  Mattias Ekman,et al.  Estimating the Cost of Epilepsy in Europe: A Review with Economic Modeling , 2007, Epilepsia.

[30]  Arthur Partikian,et al.  Major Adverse Events Associated With Treatment of Infantile Spasms , 2007, Journal of child neurology.

[31]  L. Zou,et al.  Analysis of single nucleotide polymorphisms in the melanocortin-4 receptor promoter in infantile spasms. , 2007, Neuropediatrics.

[32]  C. Camfield,et al.  Long‐term social outcomes for children with epilepsy , 2007, Epilepsia.

[33]  J. Wheless,et al.  Treatment of pediatric epilepsy: European expert opinion, 2007. , 2007, Epileptic disorders : international epilepsy journal with videotape.

[34]  E. Saemundsen,et al.  Autism Spectrum Disorders in Children With a History of Infantile Spasms: A Population-Based Study , 2007, Journal of child neurology.

[35]  M. Ganz,et al.  The lifetime distribution of the incremental societal costs of autism. , 2007, Archives of pediatrics & adolescent medicine.

[36]  O. Dulac,et al.  Severe Relapse of Epilepsy after Vigabatrin Withdrawal: For How Long Should We Treat Symptomatic Infantile Spasms? , 2007, Epilepsia.

[37]  T. Baram,et al.  Models for infantile spasms: An arduous journey to the holy grail… , 2007, Annals of neurology.

[38]  L. Velíšek,et al.  Model of infantile spasms induced by N‐methyl‐D‐aspartic acid in prenatally impaired brain , 2007, Annals of neurology.

[39]  E. Thiele,et al.  Cognitive prognosis of patients with tuberous sclerosis complex , 2007, Neurology.

[40]  Hoon-Chul Kang,et al.  Safe and Effective Use of the Ketogenic Diet in Children with Epilepsy and Mitochondrial Respiratory Chain Complex Defects , 2007, Epilepsia.

[41]  D. Braddock Washington rises: public financial support for intellectual disability in the United States, 1955-2004. , 2007, Mental retardation and developmental disabilities research reviews.

[42]  S. Moshé,et al.  Catastrophic epilepsies of infancy: From bedside to the bench and back , 2007 .

[43]  이준수,et al.  Safe and Effective Use of the Ketogenic Diet in Children with Epilepsy and Mitochondrial Respiratory Chain Complex Defects , 2007 .

[44]  Janez Stare,et al.  The Risk of Lower Mental Outcome in Infantile Spasms Increases after Three Weeks of Hypsarrhythmia Duration , 2006, Epilepsia.

[45]  W. Shields Infantile Spasms: Little Seizures, BIG Consequences , 2006, Epilepsy currents.

[46]  Anthony L. Johnson,et al.  UK Infantile Spasms Study: neurodevelopmental outcome at 4.2 years of age , 2006 .

[47]  J. Wheless,et al.  Treatment of Pediatric Epilepsy: Expert Opinion, 2005 , 2005, Journal of child neurology.

[48]  J. Osborne,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 , 2005, The Lancet Neurology.

[49]  D. Kwiatkowski,et al.  Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex , 2005, Neurology.

[50]  J. Frost,et al.  Pathogenesis of Infantile Spasms: A Model Based on Developmental Desynchronization , 2005, Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society.

[51]  Anthony L. Johnson,et al.  The United Kingdom Infantile Spasms Study comparing vigabatrin with prednisolone or tetracosactide at 14 days: a multicentre, randomised controlled trial , 2004, The Lancet.

[52]  J. Osborne,et al.  A Proposal for Case Definitions and Outcome Measures in Studies of Infantile Spasms and West Syndrome: Consensus Statement of the West Delphi Group , 2004, Epilepsia.

[53]  M. Mackay,et al.  CME Practice Parameter : Medical Treatment of Infantile Spasms , 2004 .

[54]  S. Shinnar,et al.  Long‐term Cognitive Outcomes of a Cohort of Children with Cryptogenic Infantile Spasms Treated with High‐dose Adrenocorticotropic Hormone , 2004, Epilepsia.

[55]  Amanda Honeycutt,et al.  Economic costs associated with mental retardation, cerebral palsy, hearing loss, and vision impairment--United States, 2003. , 2004, MMWR. Morbidity and mortality weekly report.

[56]  James D Frost,et al.  Infantile Epileptic Encephalopathy with Hypsarrhythmia (Infantile Spasms/West Syndrome) , 2003, Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society.

[57]  G. Dellatolas,et al.  Infantile spasms in Down syndrome—effects of delayed anticonvulsive treatment , 2003, Epilepsy Research.

[58]  N. Kocer,et al.  Magnetic Resonance Imaging Findings in Infantile Spasms: Etiologic and Pathophysiologic Aspects , 2003, Journal of child neurology.

[59]  J. Osborne,et al.  Randomized trial of vigabatrin in patients with infantile spasms. , 2002, Neurology.

[60]  S. Vanhatalo,et al.  Visual Field Constriction in 91 Finnish Children Treated with Vigabatrin , 2002, Epilepsia.

[61]  W. Shields Medical versus surgical treatment: which treatment when. , 2002, International review of neurobiology.

[62]  Raili Riikonen,et al.  Epidemiological data of West syndrome in Finland , 2001, Brain and Development.

[63]  R. Riikonen Long-term outcome of patients with West syndrome , 2001, Brain and Development.

[64]  W. Shields,et al.  Randomized trial of vigabatrin in patients with infantile spasms , 2001, Neurology.

[65]  T. Baram,et al.  Corticotropin (ACTH) acts directly on amygdala neurons to down‐regulate corticotropin‐releasing hormone gene expression , 2001, Annals of neurology.

[66]  Guideline for prescribing vigabatrin in children has been revised , 2000, BMJ : British Medical Journal.

[67]  A. Midelfart Visual field defect associated with vigabatrin. Means of selecting patients was misleading. , 2000, BMJ.

[68]  Jeffrey A. Cohen,et al.  The Potential for Vigabatrin‐Induced Intramyelinic Edema in Humans , 2000, Epilepsia.

[69]  A. Peters,et al.  Randomised, Placebo‐Controlled Study of Vigabatrin as First‐Line Treatment of Infantile Spasms , 1999, Epilepsia.

[70]  H. Oguni,et al.  A comparative study of high-dose and low-dose ACTH therapy for West syndrome , 1999, Brain and Development.

[71]  M. Yeargin-Allsopp,et al.  The Descriptive Epidemiology of Infantile Spasms Among Atlanta Children , 1999, Epilepsia.

[72]  M. Çalışkan,et al.  Neuroradiologic aspects of West syndrome. , 1998, Pediatric neurology.

[73]  M. Cilio,et al.  Vigabatrin Versus ACTH as First‐Line Treatment for Infantile Spasms: A Randomized, Prospective Study , 1997, Epilepsia.

[74]  M. Yeargin-Allsopp,et al.  Prevalence and Descriptive Epidemiology of Lennox‐Gastaut Syndrome Among Atlanta Children , 1997, Epilepsia.

[75]  R. Uehara,et al.  Rapid enlargement of cardiac rhabdomyoma during corticotropin therapy for infantile spasms. , 1997, The Canadian journal of cardiology.

[76]  Kazuyoshi Watanabe,et al.  Cortical Hypometabolism and Delayed Myelination in West Syndrome , 1996, Epilepsia.

[77]  R. Riikonen Long‐Term Outcome of West Syndrome: A Study of Adults with a History of Infantile Spasms , 1996, Epilepsia.

[78]  T. Baram,et al.  High-dose corticotropin (ACTH) versus prednisone for infantile spasms: a prospective, randomized, blinded study. , 1996, Pediatrics.

[79]  J. Osborne,et al.  MORBIDITY ASSOCIATED WITH TUBEROUS SCLEROSIS: A POPULATION STUDY , 1996, Developmental medicine and child neurology.

[80]  K. Aso,et al.  Do ictal, clinical, and electroencephalographic features predict outcome in West syndrome? , 1995, Pediatric neurology.

[81]  T. Baram,et al.  ACTH Does Not Control Neonatal Seizures Induced by Administration of Exogenous Corticotropin‐Releasing Hormone , 1995, Epilepsia.

[82]  A. Beydoun,et al.  Asymmetric Hypsarrhythmia: Clinical Electroencephalographic and Radiological Findings , 1995, Epilepsia.

[83]  J. Frost,et al.  Coupling of focal electrical seizure discharges with infantile spasms: incidence during long-term monitoring in newly diagnosed patients. , 1994, Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society.

[84]  W. Hauser,et al.  Epidemiologic Features of Infantile Spasms in Iceland , 1994, Epilepsia.

[85]  J. Frost,et al.  High-dose, long-duration versus low-dose, short-duration corticotropin therapy for infantile spasms. , 1994, The Journal of pediatrics.

[86]  P. K. Sher,et al.  Therapeutic efficacy of ACTH in symptomatic infantile spasms with hypsarrhythmia. , 1993, Pediatric neurology.

[87]  O. Dulac,et al.  Twenty‐Four‐Hour Ambulatory EEG Monitoring in Infantile Spasms , 1993, Epilepsia.

[88]  Kazuyoshi Watanabe,et al.  Reappraisal of Interictal Electroencephalograms in Infantile Spasms , 1993, Epilepsia.

[89]  F. Vigevano,et al.  Ictal Clinical Electroencephalographic Findings of Spasms in West Syndrome , 1993, Epilepsia.

[90]  Tallie A. Baram Pathophysiology of massive infantile spasms: Perpective on the putative role of the brain adrenal axis , 1993, Annals of neurology.

[91]  H. Chugani,et al.  Treatment of Infantile Spasms: Medical or Surgical? , 1992, Epilepsia.

[92]  O. Snead,et al.  Brain‐adrenal axis hormones are altered in the CSF of infants with massive infantile spasms , 1992, Neurology.

[93]  O. Snead,et al.  Corticotropin‐releasing hormone–induced seizures in infant rats originate in the amygdala , 1992, Annals of neurology.

[94]  K. Hayakawa,et al.  Magnetic Resonance Imaging in Infantile Spasms: Effects of Hormonal Therapy , 1992, Epilepsia.

[95]  H. Chugani,et al.  Workshop on Infantile Spasms , 1992 .

[96]  D. E. Loudy,et al.  Chronic Toxicity Studies with Vigabatrin, A GABA-Transaminase Inhibitor , 1990, Toxicologic pathology.

[97]  M. Nieto Barrera [Infantile spasms]. , 1990, Anales espanoles de pediatria.

[98]  K. Jellinger Neuropathological aspects of infantile spasms , 1987, Brain and Development.

[99]  D. King,et al.  Infantile spasms: ictal phenomena. , 1985, Pediatric neurology.

[100]  J D Frost,et al.  Hypsarrhythmia: Variations on the Theme , 1984, Epilepsia.

[101]  M. T. Rezkallah-Iwasso,et al.  Demonstration of antibody and cellular immune response to brain extract in West and Lennox-Gastaut syndromes. , 1984, Arquivos de neuro-psiquiatria.

[102]  J. Frost,et al.  Double-blind study of ACTH vs prednisone therapy in infantile spasms. , 1983, The Journal of pediatrics.

[103]  C. Lombroso A Prospective Study of Infantile Spasms: Clinical and Therapeutic Correlations , 1983, Epilepsia.

[104]  R. Riikonen A Long-term Follow-up Study of 214 Children with the Syndrome of Infantile Spasms , 1982, Neuropediatrics.

[105]  R. Riikonen,et al.  Psychiatric Disorders in Children with Earlier Infantile Spasms , 1981, Developmental medicine and child neurology.

[106]  R. Riikonen,et al.  ACTH therapy in infantile spasms: side effects. , 1980, Archives of disease in childhood.

[107]  E. Rabe,et al.  The effect of ACTH therapy upon infantile spasms. , 1980, The Journal of pediatrics.

[108]  J D Frost,et al.  Precise characterization and quantification of infantile spasms , 1979, Annals of neurology.

[109]  J. Farriaux,et al.  [WEST'S SYNDROME]. , 1965, Lille medical : journal de la Faculte de medecine et de pharmacie de l'Universite de Lille.

[110]  P. Jeavons,et al.  Infantile Spasms. A Review of the Literature and a Study of 112 Cases , 1965 .

[111]  G. Mathern,et al.  Epilepsia , 1991, NEURO FUNDAMENTAL.

[112]  W. J. West,et al.  ON A PECULIAR FORM OF INFANTILE CONVULSIONS , 1841 .