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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorNabbout, Rima
dc.contributor.authorBelousova, Elena
dc.contributor.authorPerkovic Benedik, Mirjana
dc.contributor.authorCarter, Tom
dc.contributor.authorCottin, Vincent
dc.contributor.authorCuratolo, Paolo
dc.contributor.authorMacaya Ruíz, Alfons
dc.date.accessioned2022-04-25T13:18:35Z
dc.date.available2022-04-25T13:18:35Z
dc.date.issued2021-09
dc.identifier.citationNabbout R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, et al. Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry. Front Neurol. 2021 Sep;12:697467.
dc.identifier.issn1664-2295
dc.identifier.urihttp://hdl.handle.net/11351/7400
dc.descriptionTOSCA; Epilepsy; Registry
dc.description.abstractBackground: Epilepsy is the most common neurological manifestation in individuals with tuberous sclerosis complex (TSC). However, real-world evidence on diagnosis and treatment patterns is limited. Here, we present data from TuberOus Sclerosis registry to increase disease Awareness (TOSCA) on changes in patterns of epilepsy diagnosis, treatments, and outcomes over time, and detailed epilepsy characteristics from the epilepsy substudy. Methods: TuberOus Sclerosis registry to increase disease Awareness (TOSCA) was a multicentre, international disease registry, consisting of a main study that collected data on overall diagnostic characteristics and associated clinical features, and six substudies focusing on specific TSC manifestations. The epilepsy substudy investigated detailed epilepsy characteristics and their correlation to genotype and intelligence quotient (IQ). Results: Epilepsy was reported in 85% of participants, more commonly in younger individuals (67.8% in 1970s to 91.8% in last decade), while rate of treatments was similar across ages (>93% for both infantile spasms and focal seizures, except prior to 1960). Vigabatrin (VGB) was the most commonly used antiepileptic drugs (AEDs). Individuals with infantile spasms showed a higher treatment response over time with lower usage of steroids. Individuals with focal seizures reported similar rates of drug resistance (32.5–43.3%). Use of vagus nerve stimulation (VNS), ketogenic diet, and surgery remained low. Discussion: The epilepsy substudy included 162 individuals from nine countries. At epilepsy onset, most individuals with infantile spasms (73.2%) and focal seizures (74.5%) received monotherapies. Vigabatrin was first-line treatment in 45% of individuals with infantile spasms. Changes in initial AEDs were commonly reported due to inadequate efficacy. TSC1 mutations were associated with less severe epilepsy phenotypes and more individuals with normal IQ. In individuals with TSC diagnosis before seizure onset, electroencephalogram (EEG) was performed prior to seizures in only 12.5 and 25% of subsequent infantile spasms and focal seizures, respectively. Conclusions: Our study confirms the high prevalence of epilepsy in TSC individuals and less severe phenotypes with TSC1 mutations. Vigabatrin improved the outcome of infantile spasms and should be used as first-line treatment. There is, however, still a need for improving therapies in focal seizures. Electroencephalogram follow-up prior to seizure-onset should be promoted for all infants with TSC in order to facilitate preventive or early treatment.
dc.language.isoeng
dc.publisherFrontiers Media
dc.relation.ispartofseriesFrontiers in Neurology;12
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectAvaluació de resultats (Assistència sanitària)
dc.subjectEpilèpsia - Diagnòstic
dc.subjectEsclerosi tuberosa - Complicacions
dc.subject.meshTuberous Sclerosis
dc.subject.mesh/complications
dc.subject.meshEpilepsy
dc.subject.meshTreatment Outcome
dc.titleHistorical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.3389/fneur.2021.697467
dc.subject.decsesclerosis tuberosa
dc.subject.decs/complicaciones
dc.subject.decsepilepsia
dc.subject.decsresultado del tratamiento
dc.relation.publishversionhttps://doi.org/10.3389/fneur.2021.697467
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Nabbout R] Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Member of EPICARE Network, Necker Enfants Malades Hospital, Université de Paris, Institut Imagine (Inserm U1163), Paris, France. [Belousova E] Department of Pediatrics, Research and Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia. [Benedik MP] Department of Pediatric Neurology, SPS Paediatric Clinic, Ljubljana, Slovenia. [Carter T] Tuberous Sclerosis Association, Nottingham, United Kingdom. [Cottin V] Department of Respiratory Medicine, Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France. [Curatolo P] Department of Neurology, Tor Vergata University Hospital, Rome, Italy. [Macaya A] Servei de Neurologia Pediàtrica, Vall d'Hebron Hospital Universitari, Barcelona, Spain
dc.identifier.pmid34566842
dc.identifier.wos000697609400001
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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