Infantile spasms.

Department of Neurology, The John M. Freeman Pediatric Epilepsy Center, The Johns Hopkins Hospital, Baltimore, MD 21287, USA.
The Neurologist (Impact Factor: 1.08). 03/2010; 16(2):69-75. DOI: 10.1097/NRL.0b013e3181d1416c
Source: PubMed

ABSTRACT Infantile spasms (West syndrome) is an epilepsy condition affecting 1 in 2000 infants. Perhaps no more worrisome neurologic disorder exists because of its frequent association with delayed development and cognition at such a young age. Despite its existence in the literature since 1841, proven therapies are limited because of efficacy, tolerability, at times even availability.
In this review, the clinical features, electroencephalogram (EEG) findings (hypsarrhythmia), prognostic factors, and myriad of treatment options for this condition will be discussed. Guidelines, surveys, and practice parameters have judged adrenocorticotropin hormone and vigabatrin to be the most proven treatments, with the latter indicated for tuberous sclerosis. However, potentially helpful therapies with fewer side effects have recently emerged including high-dose oral prednisolone, ketogenic diet, and topiramate. Additionally, advances in the past several years include the creation of viable animal models for testing new treatments.
At no other time since its first description in 1841 has the field of infantile spasms research been so rapidly changing. For the thousands of infants faced with this potentially devastating disorder, there is no time like the present.

  • Pediatrics in Review 04/2014; 35(4):e20-4. DOI:10.1542/pir.35-4-e20 · 0.82 Impact Factor
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    ABSTRACT: The current spectrum of disorders associated to clinical spasms with onset in infancy is wider than previously thought; accordingly, its terminology has changed. Nowadays, the term Infantile spasms syndrome (ISs) defines an epileptic syndrome occurring in children younger than 1year (rarely older than 2years), with clinical (epileptic: i.e., associated to an epileptiform EEG) spasms usually occurring in clusters whose most characteristic EEG finding is hypsarrhythmia [the spasms are often associated with developmental arrest or regression]. The term West syndrome (WS) refers to a form (a subset) of ISs, characterised by the combination of clustered spasms and hypsarrhythmia on an EEG and delayed brain development or regression [currently, it is no longer required that delayed development occur before the onset of spasms]. Less usually, spasms may occur singly rather than in clusters [infantile spasms single-spasm variant (ISSV)], hypsarrhythmia can be (incidentally) recorded without any evidence of clinical spasms [hypsarrhythmia without infantile spasms (HWIS)] or typical clinical spasms may manifest in absence of hypsarrhythmia [infantile spasms without hypsarrhythmia (ISW)]. There is a growing evidence that ISs and related phenotypes may result, besides from acquired events, from disturbances in key genetic pathways of brain development: specifically, in the gene regulatory network of GABAergic forebrain dorsal-ventral development, and abnormalities in molecules expressed at the synapse. Children with these genetic associations also have phenotypes beyond epilepsy, including dysmorphic features, autism, movement disorders and systemic malformations. The prognosis depends on: (a) the cause, which gives origin to the attacks (the complex malformation forms being more severe); (b) the EEG pattern(s); (c) the appearance of seizures prior to the spasms; and (d) the rapid response to treatment. Currently, the first-line treatment includes the adrenocorticotropic hormone ACTH and vigabatrin. In the near future the gold standard could be the development of new therapies that target specific pathways of pathogenesis. In this article we review the past and growing number of clinical, genetic, molecular and therapeutic discoveries on this expanding topic.
    Brain & development 11/2013; DOI:10.1016/j.braindev.2013.10.008 · 1.54 Impact Factor
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    ABSTRACT: Global DNA hypomethylation is correlated with infantile spasms.•No association between DNA methylation and ACTH efficacy.•Epigenetic therapies might be a strategy for the treatment of infantile spasms
    Epilepsy Research 10/2014; 109. DOI:10.1016/j.eplepsyres.2014.10.007 · 2.19 Impact Factor


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