Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry

TOSCA; Epilepsia; Registro

Detalhes bibliográficos
Autores: Nabbout, Rima, Belousova, Elena, Perkovic Benedik, Mirjana, Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Macaya Ruíz, Alfons
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:España
Recursos:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:11351/7400
Acesso em linha:https://hdl.handle.net/11351/7400
Access Level:acceso abierto
Palavra-chave:Avaluació de resultats (Assistència sanitària)
Epilèpsia - Diagnòstic
Esclerosi tuberosa - Complicacions
DISEASES::Nervous System Diseases::Nervous System Diseases::Neurocutaneous Syndromes::Nervous System Diseases::Tuberous Sclerosis
Other subheadings::Other subheadings::Other subheadings::/complications
DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Epilepsy
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso::síndromes neurocutáneos::enfermedades del sistema nervioso::esclerosis tuberosa
Otros calificadores::Otros calificadores::Otros calificadores::/complicaciones
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::epilepsia
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento
id ES_4b004988fcc4b03f583ddf40ea6bb135
oai_identifier_str oai:recercat.cat:11351/7400
network_acronym_str ES
network_name_str España
repository_id_str
dc.title.none.fl_str_mv Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry
title Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry
spellingShingle Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry
Nabbout, Rima
Avaluació de resultats (Assistència sanitària)
Epilèpsia - Diagnòstic
Esclerosi tuberosa - Complicacions
DISEASES::Nervous System Diseases::Nervous System Diseases::Neurocutaneous Syndromes::Nervous System Diseases::Tuberous Sclerosis
Other subheadings::Other subheadings::Other subheadings::/complications
DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Epilepsy
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso::síndromes neurocutáneos::enfermedades del sistema nervioso::esclerosis tuberosa
Otros calificadores::Otros calificadores::Otros calificadores::/complicaciones
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::epilepsia
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento
title_short Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry
title_full Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry
title_fullStr Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry
title_full_unstemmed Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry
title_sort Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry
dc.creator.none.fl_str_mv Nabbout, Rima
Belousova, Elena
Perkovic Benedik, Mirjana
Carter, Tom
Cottin, Vincent
Curatolo, Paolo
Macaya Ruíz, Alfons
author Nabbout, Rima
author_facet Nabbout, Rima
Belousova, Elena
Perkovic Benedik, Mirjana
Carter, Tom
Cottin, Vincent
Curatolo, Paolo
Macaya Ruíz, Alfons
author_role author
author2 Belousova, Elena
Perkovic Benedik, Mirjana
Carter, Tom
Cottin, Vincent
Curatolo, Paolo
Macaya Ruíz, Alfons
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Institut Català de la Salut
[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
Vall d'Hebron Barcelona Hospital Campus
dc.subject.none.fl_str_mv Avaluació de resultats (Assistència sanitària)
Epilèpsia - Diagnòstic
Esclerosi tuberosa - Complicacions
DISEASES::Nervous System Diseases::Nervous System Diseases::Neurocutaneous Syndromes::Nervous System Diseases::Tuberous Sclerosis
Other subheadings::Other subheadings::Other subheadings::/complications
DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Epilepsy
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso::síndromes neurocutáneos::enfermedades del sistema nervioso::esclerosis tuberosa
Otros calificadores::Otros calificadores::Otros calificadores::/complicaciones
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::epilepsia
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento
topic Avaluació de resultats (Assistència sanitària)
Epilèpsia - Diagnòstic
Esclerosi tuberosa - Complicacions
DISEASES::Nervous System Diseases::Nervous System Diseases::Neurocutaneous Syndromes::Nervous System Diseases::Tuberous Sclerosis
Other subheadings::Other subheadings::Other subheadings::/complications
DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Epilepsy
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso::síndromes neurocutáneos::enfermedades del sistema nervioso::esclerosis tuberosa
Otros calificadores::Otros calificadores::Otros calificadores::/complicaciones
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::epilepsia
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento
description TOSCA; Epilepsia; Registro
publishDate 2021
dc.date.none.fl_str_mv 2021
2022
2022
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/11351/7400
url https://hdl.handle.net/11351/7400
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Frontiers in Neurology;12
https://doi.org/10.3389/fneur.2021.697467
dc.rights.none.fl_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Frontiers Media
publisher.none.fl_str_mv Frontiers Media
dc.source.none.fl_str_mv Scientia
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869407530921230336
spelling Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA RegistryNabbout, RimaBelousova, ElenaPerkovic Benedik, MirjanaCarter, TomCottin, VincentCuratolo, PaoloMacaya Ruíz, AlfonsAvaluació de resultats (Assistència sanitària)Epilèpsia - DiagnòsticEsclerosi tuberosa - ComplicacionsDISEASES::Nervous System Diseases::Nervous System Diseases::Neurocutaneous Syndromes::Nervous System Diseases::Tuberous SclerosisOther subheadings::Other subheadings::Other subheadings::/complicationsDISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::EpilepsyANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment OutcomeENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso::síndromes neurocutáneos::enfermedades del sistema nervioso::esclerosis tuberosaOtros calificadores::Otros calificadores::Otros calificadores::/complicacionesENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::epilepsiaTÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamientoTOSCA; Epilepsia; RegistroTOSCA; Epilèpsia; RegistreTOSCA; Epilepsy; RegistryBackground: 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.The study was funded by Novartis Pharma AG. Novartis has contributed to study design, data analysis and the decision to publish. Novartis authors reviewed the draft for submission.Frontiers MediaInstitut Català de la Salut[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, SpainVall d'Hebron Barcelona Hospital Campus202220222021info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/11351/7400Scientiareponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésFrontiers in Neurology;12https://doi.org/10.3389/fneur.2021.697467Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:11351/74002026-05-29T05:05:01Z
score 15.812429

Registos relacionados