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Neurological Sciences : Official... Dec 2020Since its first clinical description (on his son) by William James West (1793-1848) in 1841, and the definition of the classical triad of (1) infantile spasms; (2)... (Review)
Review
Since its first clinical description (on his son) by William James West (1793-1848) in 1841, and the definition of the classical triad of (1) infantile spasms; (2) hypsarrhythmia, and (3) developmental arrest or regression as "West syndrome", new and relevant advances have been recorded in this uncommon disorder. New approaches include terminology of clinical spasms (e.g., infantile (IS) vs. epileptic spasms (ES)), variety of clinical and electroencephalographic (EEG) features (e.g., typical ictal phenomena without EEG abnormalities), burden of developmental delay, spectrum of associated genetic abnormalities, pathogenesis, treatment options, and related outcome and prognosis. Aside the classical manifestations, IS or ES may present with atypical electroclinical phenotypes (e.g., subtle spasms; modified hypsarrhythmia) and may have their onset outside infancy. An increasing number of genes, proteins, and signaling pathways play crucial roles in the pathogenesis. This condition is currently regarded as a spectrum of disorders: the so-called infantile spasm syndrome (ISs), in association with other causal factors, including structural, infectious, metabolic, syndromic, and immunologic events, all acting on a genetic predisposing background. Hormonal therapy and ketogenic diet are widely used also in combination with (classical and recent) pharmacological drugs. Biologically targeted and gene therapies are increasingly studied. The present narrative review searched in seven electronic databases (primary MeSH terms/keywords included West syndrome, infantile spasms and infantile spasms syndrome and were coupled to 25 secondary clinical, EEG, therapeutic, outcomes, and associated conditions terms) including MEDLINE, Embase, Cochrane Central, Web of Sciences, Pubmed, Scopus, and OMIM to highlight the past knowledge and more recent advances.
Topics: Electroencephalography; Humans; Infant; Prognosis; Spasms, Infantile
PubMed: 32827285
DOI: 10.1007/s10072-020-04600-5 -
Journal of Child Neurology Jan 2002West's syndrome (infantile spasms) can be considered the classic disorder of the catastrophic childhood epilepsies. Although West's syndrome was identified 160 years... (Review)
Review
West's syndrome (infantile spasms) can be considered the classic disorder of the catastrophic childhood epilepsies. Although West's syndrome was identified 160 years ago, it is still not fully understood today. Because of the multiple etiologies associated with West's syndrome, the evaluation and treatment of the disease are complex, and, to date, there are no drugs approved by the US Food and Drug Administration specifically for the treatment of infantile spasms. The multiple etiologies associated with infantile spasms require that physicians take a broad look at all therapeutic options. There are, however, logical sequences that physicians should pursue when trying to treat this disorder. This article reviews the etiologies associated with West's syndrome, antiepilepsy drug therapies currently being used to treat the syndrome, and other treatment options available to clinicians.
Topics: Anticonvulsants; Child; Child, Preschool; Electroencephalography; Humans; Infant; Infant, Newborn; Spasms, Infantile
PubMed: 11918468
DOI: 10.1177/08830738020170011101 -
Indian Journal of Pediatrics Dec 2020Infantile spasms, though long recognised, are still a cause of significant morbidity in children. The knowledge of their etiology and pathogenesis is still evolving.... (Review)
Review
Infantile spasms, though long recognised, are still a cause of significant morbidity in children. The knowledge of their etiology and pathogenesis is still evolving. Even the management strategies vary among different centres. Hormonal treatments and vigabatrin have been recognised as effective but controversies prevail on the exact protocols that best balance the risk benefit ratio. Collaborative studies have begun to provide some clarity on some of the management issues but further large scale studies that further standardise protocols are a felt need. This article attempts to provide a clinically relevant summary of the current knowledge.
Topics: Anticonvulsants; Humans; Infant; Risk Assessment; Spasms, Infantile; Vigabatrin
PubMed: 32557136
DOI: 10.1007/s12098-020-03279-y -
International Review of Neurobiology 2002
Review
Topics: Brain Diseases; Cognition Disorders; Electroencephalography; Humans; Infant; Spasms, Infantile; Syndrome
PubMed: 12040888
DOI: 10.1016/s0074-7742(02)49003-4 -
Brain & Development Jan 1998West syndrome is a multi-etiological condition. Recent progress in perinatal medicine and the recent development of new neuroimaging techniques may have changed the... (Review)
Review
West syndrome is a multi-etiological condition. Recent progress in perinatal medicine and the recent development of new neuroimaging techniques may have changed the etiological panorama of West syndrome. Our recent study has disclosed an increasing percentage of the perinatal group and a decreasing percentage of the doubtful group. The increase of the perinatal group is due to an increased proportion of very low-birthweight infants and periventricular leucomalacia (PVL). Among various etiological factors added to the long list of causes of West syndrome, focal cortical dysplasia is another newly emerging etiological factor associated with this syndrome. Patients with unilateral focal dysplasia more commonly have partial seizures, but may show infantile spasms transiently during infancy. They may have partial seizures preceding, in combination with or following infantile spasms. Follow-up MRI is necessary to detect delayed myelination because it is not disclosed at common ages of onset of this syndrome. PET is useful to further differentiate the cryptogenic group. Although West syndrome is regarded as one of the intractable epilepsies, the prognosis differs widely according to etiology. Follow-up PET is also useful to predict seizure and psychomotor prognosis.
Topics: Fetus; Humans; Infant, Low Birth Weight; Infant, Newborn; Prognosis; Risk Factors; Spasms, Infantile
PubMed: 9533552
DOI: 10.1016/s0387-7604(97)00085-5 -
Electroencephalography and Clinical... 1982
Topics: Electroencephalography; Humans; Infant; Spasms, Infantile
PubMed: 6956512
DOI: No ID Found -
Pediatric Neurology Jan 2013West syndrome constitutes the most frequent of all seizure types in infants with Down syndrome. We retrospectively reviewed records of 12 infants with Down syndrome and... (Review)
Review
West syndrome constitutes the most frequent of all seizure types in infants with Down syndrome. We retrospectively reviewed records of 12 infants with Down syndrome and West syndrome, accounting for 5% of 239 infants with West syndrome from a comprehensive epilepsy database during a 17-year period. All demonstrated classic hypsarrhythmia on video electroencephalograms. One had clinically responded to clonazepam, and one was not treated because the parents refused any treatment. Seven of 10 infants demonstrated a complete response to high-dose natural adrenocorticotrophic hormone. Four (57%) of these seven infants relapsed. Relapses occurred as long as 2 years after cessation of the initial presentation of infantile spasms. At most recent follow-up (median age, 5 years), 8/12 (67%) were seizure-free, and seven were off any medications. Two of three nonresponders manifested intractable epilepsy and profound mental retardation. Developmentally, 6/8 who could be assessed met criteria for autistic spectrum disorder. Close follow-up is necessary even after successful initial treatment, because relapses are frequent and can occur as long as 2 years later.
Topics: Adrenocorticotropic Hormone; Anticonvulsants; Cognition Disorders; Databases, Factual; Down Syndrome; Electroencephalography; Female; Humans; Infant; Longitudinal Studies; Male; Neuropsychological Tests; Outcome Assessment, Health Care; Retrospective Studies; Spasms, Infantile; Treatment Outcome; Video Recording
PubMed: 23290019
DOI: 10.1016/j.pediatrneurol.2012.09.006 -
The Pediatric Infectious Disease Journal Dec 2021Congenital Zika infection has been linked with a characteristic phenotype including neurologic sequelae. However, West syndrome has not been previously well described as...
Congenital Zika infection has been linked with a characteristic phenotype including neurologic sequelae. However, West syndrome has not been previously well described as a consequence. We aim to show this association through a retrospective descriptive study performed in Ecuador. Among 147 infants with congenital Zika infection, 7.5% suffered from West syndrome. Vigabatrin seems to be effective to control the spasms.
Topics: Anticonvulsants; Ecuador; Female; Humans; Infant; Male; Microcephaly; Phenotype; Pregnancy; Pregnancy Complications, Infectious; Retrospective Studies; Spasms, Infantile; Vigabatrin; Zika Virus; Zika Virus Infection
PubMed: 34321446
DOI: 10.1097/INF.0000000000003230 -
Brain & Development Mar 2011West syndrome is one of the most refractory epileptic syndromes in infancy, and many researchers have made great effort to find optimal treatment modalities for this... (Review)
Review
West syndrome is one of the most refractory epileptic syndromes in infancy, and many researchers have made great effort to find optimal treatment modalities for this syndrome. In this review, previous literature on optimal treatments of West syndrome and its refractory nature were briefly presented, followed by an introduction of recent publication of expert opinions from the US and Europe. An Asian expert opinion generated by a short questionnaire survey was then presented. It was shown that medically proven optimal treatment of West syndrome is not always the practical treatment of choice in Asian countries. Cost and geographical regions should also be taken into account in making practical choices for treatment of West syndrome.
Topics: Anticonvulsants; Asia; Child; Child, Preschool; Drug Resistance; Health Care Surveys; Humans; Infant; Meta-Analysis as Topic; Neurology; Pediatrics; Spasms, Infantile; Surveys and Questionnaires; Textbooks as Topic
PubMed: 21196092
DOI: 10.1016/j.braindev.2010.12.004 -
Brain & Development Oct 2014The current spectrum of disorders associated to clinical spasms with onset in infancy is wider than previously thought; accordingly, its terminology has changed.... (Review)
Review
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 1 year (rarely older than 2 years), 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.
Topics: Brain; Cognition; Humans; Infant; Spasms, Infantile
PubMed: 24268986
DOI: 10.1016/j.braindev.2013.10.008