Dravet Syndrome − experience of a Neuropediatric Unit
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://revistas.rcaap.pt/nascercrescer/article/view/21347 |
Resumo: | Introduction: Dravet syndrome (DS) is a rare and complex genetic epilepsy syndrome. The first seizures are generally induced by fever in the first year of life of a previously healthy child, and the condition is typically associated with impaired psychomotor development. The authors present a clinical review of DS patients followed at a Neuropediatric Unit of a level III Pediatric Hospital. Material and methods: Retrospective study of pediatric patients with DS followed at a Neuropediatric Unit between 2001 and 2019. Results: Twenty-two patients were diagnosed and followed in this institution. The median (interquartile range [IQR]) age at first seizure was 4.5 (4-5.75) months, which was described as generalized tonic-clonic, focal seizure, or focal to bilateral tonic-clonic seizure, and 95% of patients had fever during this first episode. Neuroimaging and first electroencephalogram (EEG) were normal in all patients. SCN1A gene mutations were detected in 21 (95%) patients. All patients underwent multiple antiepileptic drug (AED) regimens. Psychomotor development was delayed in 20 (91%) patients, and 13 (59%) presented ataxia. At the end of follow-up, the median (IQR) age was 19 (8-23) years, with no reported deaths. Discussion: The characteristics of the first DS seizures are crucial for diagnosis, which can be supported by genetic sequencing, with most patients presenting an SCN1A gene mutation. Neuroimaging and EEG are typically normal at disease onset, but most patients present EEG abnormalities over time. Seizure management can be challenging, requiring a combination of multiple AEDs. Conclusion: DS is a progressive disease associated with poor cognitive and motor skill outcomes, resulting in great morbidity. Early diagnosis can help avoid unnecessary studies, optimize the therapeutic strategy, allow genetic counseling, and improve long-term outcomes. |
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Dravet Syndrome − experience of a Neuropediatric UnitSíndrome de Dravet − experiência de uma Unidade de NeuropediatriaOriginal ArticlesIntroduction: Dravet syndrome (DS) is a rare and complex genetic epilepsy syndrome. The first seizures are generally induced by fever in the first year of life of a previously healthy child, and the condition is typically associated with impaired psychomotor development. The authors present a clinical review of DS patients followed at a Neuropediatric Unit of a level III Pediatric Hospital. Material and methods: Retrospective study of pediatric patients with DS followed at a Neuropediatric Unit between 2001 and 2019. Results: Twenty-two patients were diagnosed and followed in this institution. The median (interquartile range [IQR]) age at first seizure was 4.5 (4-5.75) months, which was described as generalized tonic-clonic, focal seizure, or focal to bilateral tonic-clonic seizure, and 95% of patients had fever during this first episode. Neuroimaging and first electroencephalogram (EEG) were normal in all patients. SCN1A gene mutations were detected in 21 (95%) patients. All patients underwent multiple antiepileptic drug (AED) regimens. Psychomotor development was delayed in 20 (91%) patients, and 13 (59%) presented ataxia. At the end of follow-up, the median (IQR) age was 19 (8-23) years, with no reported deaths. Discussion: The characteristics of the first DS seizures are crucial for diagnosis, which can be supported by genetic sequencing, with most patients presenting an SCN1A gene mutation. Neuroimaging and EEG are typically normal at disease onset, but most patients present EEG abnormalities over time. Seizure management can be challenging, requiring a combination of multiple AEDs. Conclusion: DS is a progressive disease associated with poor cognitive and motor skill outcomes, resulting in great morbidity. Early diagnosis can help avoid unnecessary studies, optimize the therapeutic strategy, allow genetic counseling, and improve long-term outcomes.Introdução: A síndrome de Dravet (SD) é uma síndrome epilética genética rara e complexa. As primeiras crises são habitualmente induzidas por febre no primeiro ano de vida de crianças previamente saudáveis e a doença está tipicamente associada a atraso no desenvolvimento psicomotor. Os autores apresentam uma revisão clínica de doentes com SD seguidos numa Unidade de Neuropediatria de um Hospital Pediátrico de nível III. Material e métodos: Estudo retrospetivo de doentes pediátricos com SD seguidos numa Unidade de Neuropediatria entre 2001 e 2019. Resultados: Vinte e dois doentes foram diagnosticados e seguidos na instituição. A mediana de idades aquando da primeira crise foi de 4.5 meses (intervalo interquartil [IQR] 4-5.75 meses), que foi descrita como tónico-clónica generalizada, focal ou focal com evolução para tónico-clónica bilateral, e 95% dos doentes apresentaram febre associada. O estudo de neuroimagem e o primeiro eletroencefalograma (EEG) foram normais em todos os doentes. Vinte e um doentes (95%) tinham mutação no gene SCN1A. Todos os doentes foram submetidos a múltiplos esquemas de antiepiléticos. Verificou-se atraso do desenvolvimento psicomotor em 20 (91%) doentes e 13 (59%) apresentaram ataxia. No final do período de seguimento, a mediana (IQR) de idades foi de 19 (8-23) anos, não tendo sido reportadas mortes. Discussão: As características das primeiras crises de SD são essenciais para o diagnóstico, o qual pode ser apoiado por estudo genético, com a maioria dos doentes a apresentar mutações no gene SCN1A. Na apresentação, o estudo de neuroimagem e EEG são tipicamente normais, mas a maioria dos doentes apresenta alterações no EEG ao longo do tempo. As crises podem ser de difícil controlo e requerem o uso de múltiplos antiepiléticos. Conclusão: A SD tem um carácter progressivo e está associada a mau prognóstico cognitivo e motor, resultando em grande morbilidade. O diagnóstico precoce pode evitar investigação desnecessária, ajudar a otimizar a estratégia terapêutica, permitir o aconselhamento genético e melhorar os resultados a longo prazo.Centro Hospitalar Universitário do Porto2021-12-27T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://revistas.rcaap.pt/nascercrescer/article/view/21347eng2183-9417Figueiredo, Rafael CostaRocha, RubenFreitas Baptista , CristinaSantos, ManuelaFigueiroa , SóniaCarrilho, InêsTemudo, Teresainfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-09-21T14:55:41Zoai:ojs.revistas.rcaap.pt:article/21347Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T15:56:32.947121Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Dravet Syndrome − experience of a Neuropediatric Unit Síndrome de Dravet − experiência de uma Unidade de Neuropediatria |
title |
Dravet Syndrome − experience of a Neuropediatric Unit |
spellingShingle |
Dravet Syndrome − experience of a Neuropediatric Unit Figueiredo, Rafael Costa Original Articles |
title_short |
Dravet Syndrome − experience of a Neuropediatric Unit |
title_full |
Dravet Syndrome − experience of a Neuropediatric Unit |
title_fullStr |
Dravet Syndrome − experience of a Neuropediatric Unit |
title_full_unstemmed |
Dravet Syndrome − experience of a Neuropediatric Unit |
title_sort |
Dravet Syndrome − experience of a Neuropediatric Unit |
author |
Figueiredo, Rafael Costa |
author_facet |
Figueiredo, Rafael Costa Rocha, Ruben Freitas Baptista , Cristina Santos, Manuela Figueiroa , Sónia Carrilho, Inês Temudo, Teresa |
author_role |
author |
author2 |
Rocha, Ruben Freitas Baptista , Cristina Santos, Manuela Figueiroa , Sónia Carrilho, Inês Temudo, Teresa |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Figueiredo, Rafael Costa Rocha, Ruben Freitas Baptista , Cristina Santos, Manuela Figueiroa , Sónia Carrilho, Inês Temudo, Teresa |
dc.subject.por.fl_str_mv |
Original Articles |
topic |
Original Articles |
description |
Introduction: Dravet syndrome (DS) is a rare and complex genetic epilepsy syndrome. The first seizures are generally induced by fever in the first year of life of a previously healthy child, and the condition is typically associated with impaired psychomotor development. The authors present a clinical review of DS patients followed at a Neuropediatric Unit of a level III Pediatric Hospital. Material and methods: Retrospective study of pediatric patients with DS followed at a Neuropediatric Unit between 2001 and 2019. Results: Twenty-two patients were diagnosed and followed in this institution. The median (interquartile range [IQR]) age at first seizure was 4.5 (4-5.75) months, which was described as generalized tonic-clonic, focal seizure, or focal to bilateral tonic-clonic seizure, and 95% of patients had fever during this first episode. Neuroimaging and first electroencephalogram (EEG) were normal in all patients. SCN1A gene mutations were detected in 21 (95%) patients. All patients underwent multiple antiepileptic drug (AED) regimens. Psychomotor development was delayed in 20 (91%) patients, and 13 (59%) presented ataxia. At the end of follow-up, the median (IQR) age was 19 (8-23) years, with no reported deaths. Discussion: The characteristics of the first DS seizures are crucial for diagnosis, which can be supported by genetic sequencing, with most patients presenting an SCN1A gene mutation. Neuroimaging and EEG are typically normal at disease onset, but most patients present EEG abnormalities over time. Seizure management can be challenging, requiring a combination of multiple AEDs. Conclusion: DS is a progressive disease associated with poor cognitive and motor skill outcomes, resulting in great morbidity. Early diagnosis can help avoid unnecessary studies, optimize the therapeutic strategy, allow genetic counseling, and improve long-term outcomes. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-12-27T00:00:00Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://revistas.rcaap.pt/nascercrescer/article/view/21347 |
url |
https://revistas.rcaap.pt/nascercrescer/article/view/21347 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
2183-9417 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
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openAccess |
dc.publisher.none.fl_str_mv |
Centro Hospitalar Universitário do Porto |
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Centro Hospitalar Universitário do Porto |
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reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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