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Journal of Clinical Medicine
Par Lisandra Coneglian Farias Rigoldi, Daniel Almeida do Valle, Mayla Cristine de Souza et 4 autres.
Contenu en anglais
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Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy, and data from low- and middle-income countries remain scarce. We characterized the clinical, genetic, and therapeutic profiles of patients with DS at a Brazilian tertiary referral center.
This retrospective cross-sectional study included 27 patients with clinically and genetically confirmed DS (pathogenic/likely pathogenic SCN1A variants). Outcomes were ≥6-month and ≥12-month seizure freedom and seizure control in the previous month, described by treatment exposure without inferential testing.
The median age at seizure onset was 4 months and at diagnosis 42 months; the median individual onset-to-diagnosis interval was 29 months (range, 4–283; n = 14). All patients received polytherapy; 51.9% used cannabidiol, 40.7% vagus nerve stimulation, and 7.4% fenfluramine. Only 2/20 patients (10.0%) achieved ≥6-month and 1/20 (5.0%) ≥ 12-month seizure freedom. All six patients seizure-free in the previous month were receiving valproate, a descriptive finding likely reflecting confounding by indication. Recorded comorbidities, mainly autism spectrum disorder (29.6%), were likely underestimated in the absence of systematic neurodevelopmental assessment.
This Brazilian DS cohort showed marked diagnostic delay, high seizure burden, and limited access to DS-specific therapies. These findings support earlier genetic testing and broader access to recommended treatments and generate hypotheses for larger prospective studies.
Publié dans Journal of Clinical Medicine. Le résumé est reproduit tel qu’il a été publié et reste l’œuvre de ses auteurs ; lisez l’article complet à la source.
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