Clinical and Therapeutic Profile of Dravet Syndrome in Patients Followed at a Brazilian Pediatric Referral Center: Real-World Data from a Tertiary Service
4 affiliations
- 1Faculdades Pequeno Príncipe, Curitiba 80230-020, PR, Brazil
- 2Hospital Pequeno Príncipe, Curitiba 80250-060, PR, Brazil
- 3Instituto de Pesquisa Pelé Pequeno Príncipe, Curitiba 80250-060, PR, Brazil
- 4Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90025, USA
Abstract
Background: 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. Methods: 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. Results: 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. Conclusions: 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.
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BibTeX
@article{rigoldi2026clinical,
title = {{Clinical and Therapeutic Profile of Dravet Syndrome in Patients Followed at a Brazilian Pediatric Referral Center: Real-World Data from a Tertiary Service}},
author = {Lisandra Coneglian de Farias Rigoldi and Daniel Almeida do Valle and Mayla Cristine de Souza and Maria Augusta Kormann and Solena A. Fidalski and Mara Lucia S. F. Santos and Mara L. Cordeiro},
journal = {Journal of Clinical Medicine},
year = {2026},
month = oct,
doi = {10.3390/jcm15208034},
url = {https://www.mdpi.com/2077-0383/15/20/8034},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Clinical and Therapeutic Profile of Dravet Syndrome in Patients Followed at a Brazilian Pediatric Referral Center: Real-World Data from a Tertiary Service
AU - Lisandra Coneglian de Farias Rigoldi
AU - Daniel Almeida do Valle
AU - Mayla Cristine de Souza
AU - Maria Augusta Kormann
AU - Solena A. Fidalski
AU - Mara Lucia S. F. Santos
AU - Mara L. Cordeiro
PY - 2026
DA - 2026/10/01
JO - Journal of Clinical Medicine
DO - 10.3390/jcm15208034
UR - https://www.mdpi.com/2077-0383/15/20/8034
AB - Background: 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. Methods: 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. Results: 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. Conclusions: 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.
SN - 2077-0383
ER -