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Brain & Development Nov 2001West syndrome (WS) is commonly associated with a poor long-term outcome including a small but significant mortality, infantile spasms that are resistant to treatment,... (Review)
Review
West syndrome (WS) is commonly associated with a poor long-term outcome including a small but significant mortality, infantile spasms that are resistant to treatment, the development of other seizure types and impaired cognitive and psychosocial functioning. It is important to understand that the families of these children also experience significant psychosocial morbidity, which is usually, but not invariably, correlated with persisting seizures beyond the first or second year of life. One of the fundamental points about the prognosis of this epilepsy syndrome is that the natural history (i.e. the outcome of spasms without any medical or surgical intervention) is not known. Numerous factors have been implicated as being important in influencing the long-term prognosis of children with WS. However, the majority of these factors have been identified from retrospective and markedly heterogeneous studies, including different populations and different treatment regimes. The most important prognostic factors are generally recognised to be the underlying aetiology of the syndrome and the presence or absence of pre-existing seizures and/or developmental abnormalities. The rapidity with which the diagnosis is made and treatment started from the onset of spasms (often termed the 'treatment lag') is a possible, though controversial and as yet unproven, factor in the prognosis of WS.
Topics: Humans; Infant; Prognosis; Social Support; Spasms, Infantile
PubMed: 11701278
DOI: 10.1016/s0387-7604(01)00264-9 -
Revista de NeurologiaThe author presents a review and actualization of West syndrome related knowledges, ethiological issues, clinics, and the EEG tracings. It is also include a literature... (Review)
Review
The author presents a review and actualization of West syndrome related knowledges, ethiological issues, clinics, and the EEG tracings. It is also include a literature review about different therapeutic treatments emphasizing the use of vigabatrin.
Topics: Anticonvulsants; Electroencephalography; Humans; Intellectual Disability; Psychomotor Disorders; Spasms, Infantile; Vigabatrin
PubMed: 10797924
DOI: No ID Found -
Monatsschrift Kinderheilkunde : Organ... Aug 1992West-Syndrome is an age-dependent early epileptic encephalopathy manifesting during the first year of life. It carries a high risk for an unfavourable longterm... (Review)
Review
West-Syndrome is an age-dependent early epileptic encephalopathy manifesting during the first year of life. It carries a high risk for an unfavourable longterm prognosis, especially for the prevailing group of patients with the symptomatic form. Etiologically associated factors are heterogeneous. Among them fetal developmental defects and perinatal hypoxic-ischemic complications predominate. Infantile spasms difficult to control and early manifesting defects in social and communicative capacities determine the poor outlook for longterm mental prognosis. Benefits and risks of currently used anticonvulsant medication are discussed. The need for systematic multimodal longterm care is stressed.
Topics: Adrenal Cortex Hormones; Adrenocorticotropic Hormone; Brain Damage, Chronic; Diagnosis, Differential; Dose-Response Relationship, Drug; Electroencephalography; Humans; Infant; Neuropsychological Tests; Prognosis; Spasms, Infantile
PubMed: 1331781
DOI: No ID Found -
Brain & Development Nov 2001The combination of axial spasms in clusters, hypsarrhythmia, and psychomotor delay beginning in the first year of life defines West syndrome. Variants of this classical... (Review)
Review
The combination of axial spasms in clusters, hypsarrhythmia, and psychomotor delay beginning in the first year of life defines West syndrome. Variants of this classical triad comprise variations of age of onset ranging from the first month to 4 years, spasms that may be asymmetrical or combined with focal seizures, asymmetrical, synchronous or fragmented hypsarrhythmia, and psychomotor function which may be delayed, deteriorated or normal. These variations mainly seem to depend on etiology, and specific patterns have been identified for the various causes. Most causes relate to non-progressive uni- or multifocal cortical lesions, although some are due to inborn errors of metabolism. Ten to 20% exhibit no evidence of brain lesion and are considered idiopathic. This condition is intermediary between epilepsy in which the disorder is limited to paroxysmal events during which time the patient returns to his prior condition, and status epilepticus in which the paroxysmal activity is not interrupted. Here, there are both paroxysmal events and a continuous non-convulsive paroxysmal activity that contributes to the deterioration. In the present understanding of pathophysiology, spasms seem to involve subcortical structures, whereas hypsarrhythmia affects cortical areas, also causing psychomotor deterioration. Deafferentation of subcortical structures by the continuous spiking and slow wave activity could account for release of autonomic activity in the basal ganglia. Cortical paroxysmal activity could be caused by age-related hyperexcitability linked to the development of cortical neuronal networks throughout infancy. The mode of action of steroid and vigabatrin therapies, the two therapies with demonstrated efficacy, can be explained on this basis.
Topics: Brain; Electroencephalography; Humans; Infant; Spasms, Infantile
PubMed: 11701238
DOI: 10.1016/s0387-7604(01)00268-6 -
Brain & Development 1996
Review
Topics: Adrenocorticotropic Hormone; Humans; Infant; Spasms, Infantile
PubMed: 8980845
DOI: 10.1016/s0387-7604(96)00050-2 -
Pediatrics International : Official... 2023
Topics: Humans; Infant; Spasms, Infantile; Adrenocorticotropic Hormone; Anticonvulsants; Rhabdomyolysis; Treatment Outcome; Electroencephalography
PubMed: 37551657
DOI: 10.1111/ped.15583 -
Epilepsy Research Aug 2020Collagen type IV, alpha-1 (COL4A1) variants can cause cerebrovascular diseases, such as porencephaly and cerebral hemorrhage, in addition to other autosomal dominant...
Collagen type IV, alpha-1 (COL4A1) variants can cause cerebrovascular diseases, such as porencephaly and cerebral hemorrhage, in addition to other autosomal dominant hereditary diseases. Patients with COL4A1 variants can present with epilepsy, most commonly focal epilepsy. In this paper, we present five patients, three of whom were examined by the authors, and two who were previously reported. Clinically, these five patients were characterized by the presence of West syndrome (WS), periventricular leukomalacia (PVL), and microcephaly, but none had a history of premature birth or hypoxic ischemic encephalopathy (HIE). Genetic testing results indicated that all patients had heterozygous variants of COL4A1. Genetic testing for the COL4A1 variants should be considered when a patient without a history of prematurity or HIE develops WS with PVL and microcephaly.
Topics: Cerebral Hemorrhage; Child; Child, Preschool; Collagen Type IV; Female; Heterozygote; Humans; Infant; Male; Mutation; Spasms, Infantile
PubMed: 32446163
DOI: 10.1016/j.eplepsyres.2020.106349 -
Advances in Experimental Medicine and... 2002West's syndrome is a serious epileptic syndrome which usually begins in the first year of life. It involves seizures known as "infantile spasms". Dr. Hrachovy describes... (Review)
Review
West's syndrome is a serious epileptic syndrome which usually begins in the first year of life. It involves seizures known as "infantile spasms". Dr. Hrachovy describes the disorder and its symptoms.
Topics: Child; Child, Preschool; Diagnosis, Differential; Electroencephalography; Humans; Infant; Infant, Newborn; Remission, Spontaneous; Spasm; Spasms, Infantile
PubMed: 11993738
DOI: No ID Found -
Epilepsy Research Aug 2006Symptomatic West syndrome has heterogeneous backgrounds. Recently, two novel genes, ARX and CDKL5, have been found to be responsible for cryptogenic West syndrome or... (Review)
Review
Symptomatic West syndrome has heterogeneous backgrounds. Recently, two novel genes, ARX and CDKL5, have been found to be responsible for cryptogenic West syndrome or infantile spasms. Both are located in the human chromosome Xp22 region and are mainly expressed and play roles in fetal brain. Moreover, several genes responsible for brain malformations including lissencephaly, which is frequently associated with West syndrome or infantile spasms, have been found, and the mechanisms responsible for the neural network disorders in these brain malformations are rapidly being determined. Findings of animal and in vitro studies and mutation analyses in humans are delineating the molecular and cellular basis of West syndrome. Mutations of the ARX gene controlling the development of GABAergic interneurons exhibit pleiotropic effects including lissencephaly with a strong genotype-phenotype correlation. An expansion mutation of the first polyalanine tract of ARX is more strongly related to infantile spasms than is that of the second polyalanine tract. Although the phenotype of CDKL5 mutation is similar to Rett syndrome caused by MECP2 mutation, the former is characterized by early-onset seizures and association with West syndrome. Lissencephaly caused by LIS1 or DCX mutation frequently results in West syndrome, while lissencephaly due to ARX mutation is associated with the most severe form of epilepsy but never results in West syndrome nor infantile spasms. Both LIS1 and DCX participate in the development of GABAergic interneurons as well as pyramidal neurons, while ARX participates only in that of interneurons. Individuals with lissencephaly due to ARX mutation lack non-pyramidal or GABAergic interneurons. ARX is crucial for the development of GABAergic interneuron, so abnormal interneurons in patients with ARX mutation are thought to be implicated in the pathological mechanism, even though brain MRI is normal. Abnormal interneurons appear to play an essential role in the pathogenesis of West syndrome or infantile spasms, which can be considered an interneuronopathy.
Topics: 1-Alkyl-2-acetylglycerophosphocholine Esterase; Brain; Doublecortin Domain Proteins; Doublecortin Protein; Homeodomain Proteins; Humans; Infant; Microtubule-Associated Proteins; Mutation; Neuropeptides; Protein Serine-Threonine Kinases; Spasms, Infantile; Transcription Factors
PubMed: 16806828
DOI: 10.1016/j.eplepsyres.2006.02.008 -
Seminars in Pediatric Neurology Jul 2021The term infantile spasms has been used inconsistently within the medical literature for decades. We are also without formal consensus on the diagnostic criteria for... (Review)
Review
The term infantile spasms has been used inconsistently within the medical literature for decades. We are also without formal consensus on the diagnostic criteria for West syndrome. Author-specific definitions for these terms will determine the populations studied within research studies and thus impact the relevance of the data acquired. In addition, how one defines these terms may have serious consequences for children presenting with infantile spasms such as the inappropriate withholding of standard therapy in those who fail to meet criteria for West syndrome. The overreliance on the term hypsarhythmia is particularly problematic given that many children presenting with infantile spasms will not have this classic pattern and because the determination of hypsarhythmia has poor inter-rater reliability. Herein I review historical perspectives, relying heavily on published monographs and consensus statements, and promote practical definitions and diagnostic criteria for infantile spasms and West syndrome. In an effort to encourage best clinical practice and research methodology, I include guidance for the diagnosis of infantile spasms (a seizure type) and West syndrome (an epilepsy syndrome).
Topics: Anticonvulsants; Child; Humans; Infant; Reproducibility of Results; Seizures; Spasms, Infantile
PubMed: 34183140
DOI: 10.1016/j.spen.2021.100893