Publication
Dravet Syndrome − experience of a Neuropediatric Unit
| dc.contributor.author | Figueiredo Costa, Marcos | |
| dc.contributor.author | Rocha, Ruben | |
| dc.contributor.author | Baptista, Cristina Freitas | |
| dc.contributor.author | Santos, Manuela | |
| dc.contributor.author | Figueiroa, Sónia | |
| dc.contributor.author | Carrilho, Inês | |
| dc.contributor.author | Temudo, Teresa | |
| dc.date.accessioned | 2022-11-29T15:14:45Z | |
| dc.date.available | 2022-11-29T15:14:45Z | |
| dc.date.issued | 2021-12 | |
| dc.description.abstract | 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. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Nascer e Crescer - Birth and Growth Medical Journal 2021;30(4):213-218. doi:10.25753/BirthGrowthMJ.v30.i4.21347 | pt_PT |
| dc.identifier.doi | https://doi.org/10.25753/BirthGrowthMJ.v30.i4.21347 | pt_PT |
| dc.identifier.issn | 2183-9417 | |
| dc.identifier.uri | http://hdl.handle.net/10400.16/2750 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Centro Hospitalar Universitário do Porto | pt_PT |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc/4.0/ | pt_PT |
| dc.subject | Dravet Syndrome | pt_PT |
| dc.subject | SCN1A gene | pt_PT |
| dc.subject | severe myoclonic epilepsy in infancy | pt_PT |
| dc.title | Dravet Syndrome − experience of a Neuropediatric Unit | pt_PT |
| dc.title.alternative | Síndrome de Dravet − experiência de uma Unidade de Neuropediatria | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Porto | pt_PT |
| oaire.citation.endPage | 218 | pt_PT |
| oaire.citation.issue | 4 | pt_PT |
| oaire.citation.startPage | 213 | pt_PT |
| oaire.citation.title | Nascer e Crescer - Birth and Growth Medical Journal | pt_PT |
| oaire.citation.volume | 30 | pt_PT |
| person.familyName | Figueiredo Costa | |
| person.familyName | Rocha | |
| person.familyName | Baptista | |
| person.givenName | Marcos | |
| person.givenName | Ruben | |
| person.givenName | Cristina Freitas | |
| person.identifier.ciencia-id | 731B-8049-FA18 | |
| person.identifier.orcid | 0000-0002-4313-539X | |
| person.identifier.orcid | 0000-0002-5523-538X | |
| person.identifier.orcid | 0000-0003-3848-4031 | |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |
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