Abstract Details

Title Revealing the Diagnostic Gap in Dravet Syndrome: A Retrospective Cohort of Pediatric Patients from Mexico

Topic Epilepsy/Clinical Neurophysiology (EEG)

Presentation(s) P2 - Poster Session 2 (11:45 AM-12:45 PM)

Poster/Presentation
Number 10-010

Objective To highlight the need to reduce diagnostic delays and ensure timely initiation of appropriate treatment for Dravet syndrome (DS) in pediatric patients.

Background DS is a severe developmental and epileptic encephalopathy often misdiagnosed in early childhood, leading to inappropriate use of contraindicated antiseizure medications and suboptimal disease control. Early recognition and access to genetic testing are essential for improving outcomes.

Design/Methods We conducted a retrospective observational study including 20 pediatric patients with DS managed at Hospital Civil Fray Antonio Alcalde and in two private neuropediatric practices in Mexico. Data were collected from medical records using a standardized form capturing demographics, seizure history, diagnostic pathway, genetic testing, and treatment. Variables included time from first seizure to diagnosis, number of contraindicated medications, access to genetic testing, receipt of first-, second-, and third-line treatments, and treatment changes following diagnosis. Descriptive statistics are presented as median (IQR) or n (%).

Results Of 20 patients (60% female), 60% had genetically confirmed DS, while 40% lacked access to molecular testing. The median diagnostic delay was 35 months (IQR 13.5–61.5), with 80% experiencing delays ≥12 months. Half (50%) received at least one contraindicated sodium channel–blocking antiseizure medication (mean 0.95 per patient). Following diagnostic confirmation, treatment was modified in 50% of cases. Appropriate first-line therapies were used in 95% of patients, whereas only 65% and 30% received second- and third-line options, respectively. The median clinical phenotype score was 11 (IQR 8–12), consistent with a typical DS presentation.

Conclusions Diagnostic delays remain substantial among DS patients, leading to frequent exposure to inappropriate medications and delayed initiation of targeted therapy. Expanding access to genetic testing and increasing physician awareness are critical to shorten diagnostic latency and optimize disease management in Dravet syndrome.

Authors/Disclosures
Paloma Hurtado Cuan PRESENTER	No disclosure on file
Enrique Gomez Figueroa, MD, MSc	Dr. Gomez Figueroa has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen Mexico. Dr. Gomez Figueroa has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Astra Zeneca Mexico. Dr. Gomez Figueroa has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Johnson & Johnson LATAM.
Amado Jimenez Ruiz (Hospital Civil de Guadalajara Fray Antonio Alcalde)	Dr. Jimenez Ruiz has nothing to disclose.
Rosa Marquez, MD	Dr. Marquez has nothing to disclose.
Melissa F. Castillo, Jr., MD	Dr. Castillo has received personal compensation in the range of $500-$4,999 for serving as a Consultant for UCB. Dr. Castillo has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for UCB.

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