A retrospective study on aetiology based outcome of infantile spasms

Karvelas, Georges; Lortie, Anne; Scantlebury, Morris H.; Duy, Paul T.; Cossette, Patrick; Carmant, Lionel

doi:10.1016/j.seizure.2008.09.006

Cited by 56 publications

(67 citation statements)

References 32 publications

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“…Although several reports showed that the patients who had cryptogenic etiology responded better to TPM than did the symptomatic patients18,31,32), different results were also reported28,33). In our study, 4 of 7 cryptogenic patients had complete disappearance of spasms and hypsarrhythmia, and 6 of 7 cryptogenic patients (85%) achieved a ≥50% reduction in seizure frequencies.…”

Section: Discussioncontrasting

confidence: 62%

Short term outcomes of topiramate monotherapy as a first-line treatment in newly diagnosed West syndrome

Lee

et al. 2011

Korean J Pediatr

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PurposeTo investigate the efficacy of topiramate monotherapy in West syndrome prospectively.MethodsThe study population included 28 patients (15 male and 13 female children aged 2 to 18 months) diagnosed with West syndrome. After a 2-week baseline period for documentation of the frequency of spasms, topiramate was initiated at 2 mg/kg/day. The dose was increased by 2 mg/kg every week to a maximum of 12 mg/kg/day. Clinical assessment was based on the parents' report and a neurological examination every 2 weeks for the first 2 months of treatment. The baseline electroencephalograms (EEGs) were compared with the post-treatment EEGs at 2 weeks and 1 month.ResultsWest syndrome was considered to be cryptogenic in 7 of the 28 patients and symptomatic in 21 patients. After treatment, 11 patients (39%) became spasm-free, 6 (21%) had more than 50% spasmsreduction, 3 (11%) showed less than 50% reduction, and 8 (29%) did not respond. The effective daily dose for achieving more than 50% reduction in spasm frequency, including becoming spasm-free, was found to be 5.8±1.1 mg/kg/day. Nine patients (32%) showed complete disappearance of spasms and hypsarrhythmia, and 11 (39%) showed improved EEG results. Despite adverse events (4 instances of irritability, 3 of drowsiness, and 1 of decreased feeding), no patients discontinued the medication.ConclusionTopiramate monotherapy seems to be effective and well tolerated as a first line therapy for West syndrome and is not associated with serious adverse effects.

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Section: Discussioncontrasting

confidence: 62%

Short term outcomes of topiramate monotherapy as a first-line treatment in newly diagnosed West syndrome

Lee

et al. 2011

Korean J Pediatr

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“…The estimated incidence of WS is low, occurring in one out of 3-5000 live births, but its consequences are grave. Depending on the underlying etiology, the majority of infants remain with cognitive or neurodevelopmental deficits ( 50% -60% of infants with IS of unknown etiology; 84% -98% of infants with IS caused by structural/metabolic etiology) or persisting epilepsy, which is usually drug resistant (Baram et al 1996;Karvelas et al 2009;Pellock et al 2010;Auvin et al 2012;Vendrame et al 2012;Lee et al 2013).…”

Section: Animal Models Of Epileptic/is and West Syndromementioning

confidence: 99%

“…Significant interest was drawn toward targeting the mTOR pathway, given the association of several disorders of the mTOR pathway with IS. The classical genetic cause of mTOR overactivation, tuberous sclerosis, is diagnosed in 5% -10% of infants with IS, and 38% of infants with tuberous sclerosis have IS (Sidenvall and Eeg-Olofsson 1995;Curatolo et al 2001;Riikonen 2001;Karvelas et al 2009;Bombardieri et al 2010;Chu-Shore et al 2010;Osborne et al 2010). Mutations in pathways that cross talk and increase the activity of mTOR have been identified in patients with IS as a result of hemimegalencephaly or polyhydramnios, microcephaly, and symptomatic epilepsy (PMSE).…”

Section: Animal Models Of Early-life Epilepsymentioning

confidence: 99%

Neonatal and Infantile Epilepsy: Acquired and Genetic Models

Galanopoulou

Moshé

2015

Cold Spring Harb Perspect Med

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The incidence of seizures and epilepsies is particularly high during the neonatal and infantile periods. We will review selected animal models of early-life epileptic encephalopathies that have addressed the dyscognitive features of frequent interictal spikes, the pathogenesis and treatments of infantile spasms (IS) or Dravet syndrome, disorders with mammalian target of rapamycin (mTOR) dysregulation, and selected early-life epilepsies with genetic defects. Potentially pathogenic mechanisms in these conditions include interneuronopathies in IS or Dravet syndrome and mTOR dysregulation in brain malformations, tuberous sclerosis, and related genetic disorders, or IS of acquired etiology. These models start to generate the first therapeutic drugs, which have been specifically developed in immature animals. However, there are challenges in translating preclinical discoveries into clinically relevant findings. The advances made so far hold promise that the new insights may potentially have curative or disease-modifying potential for many of these devastating conditions. T he neonatal and infantile periods show relatively high age-adjusted incidence of epilepsy compared with other ages of life (Hauser et al. 1993). The etiology of newly diagnosed epilepsies at these ages also is distinct, showing greater representation of epilepsies of unknown, genetic, or congenital etiologies (Hauser et al. 1993). The semiology and syndromic phenotypes of epilepsies that first appear in this early life period are also distinct and often more fulminant, appearing with evident neurodevelopmental problems or regression (e.g., epileptic encephalopathies) or characteristic seizure types (e.g., infantile spasms [IS], multifocal clonic seizures) ( Table 1). In addition, the treatments for epilepsies of these age groups can be specialized, as is the case with the use of hormonal therapies (e.g., adrenocorticotropic hormone [ACTH] in certain epileptic encephalopathies). Given the serious repercussions for the development of these neonates and infants and the importance of finding better therapies with disease-modifying potential, several efforts have been made to create animal models of these conditions to increase our understanding and ability to treat them. Here, we will review selected animal models, genetic or induced, that address epilepsies and epileptic encephalopathies characteristic of neonates and infants.

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“…[98,99] Başta ACTH ve vigabatrin yardımıyla nöbet kontrolünün sağlan-ması LGS'ye progresyon oranını düşürmüştür. [100] Etiyolojiye göre değerlendirildiğinde, kriptojenik olguların %51'ine karşın, semptomatik olguların yalnızca %7'si normal gelişim göstermektedir. Bazı serilerde olguların yaklaşık %17'si LGS'ye dönüşmektedir.…”

Section: Eeg Bulgularıunclassified

Epileptic Syndromes With Possible Immunological Mechanisms (Rasmussen Encephalitis, FIRES, West Syndrome, Landau-Kleffner Syndrome)

Kınay¹

2015

Epilepsi

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SummarySome of childhood epileptic syndromes reminds immunological etiologies with their good response to immuno-therapy and histopathological findings. These syndromes, such as Rasmussen encephalitis, FIRES, West syndrome, and Landau-Kleffner syndrome each of which are proceeding with severe epileptic encephalopathy are discussed with their physiopathological, clinical, EEG, laboratory, treatment and prognostic characteristics by the help of current literatüre.

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A retrospective study on aetiology based outcome of infantile spasms

Abstract: The aetiology and prognosis of infantile spasms is evolving. To improve outcome, we need to reduce the delay to diagnosis and develop prospective double-blind randomized clinical trials looking at not only the epileptic outcome but also cognitive outcome of these children.

Cited by 56 publications

References 32 publications

Short term outcomes of topiramate monotherapy as a first-line treatment in newly diagnosed West syndrome

Short term outcomes of topiramate monotherapy as a first-line treatment in newly diagnosed West syndrome

Neonatal and Infantile Epilepsy: Acquired and Genetic Models

Epileptic Syndromes With Possible Immunological Mechanisms (Rasmussen Encephalitis, FIRES, West Syndrome, Landau-Kleffner Syndrome)

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