Clinical, Genetic, EEG, Neuroimaging Insights and Conservative Treatment in Pediatric Focal Epilepsy: A Retrospective Observational Study

TL;DR

This study examines clinical, genetic, EEG, and neuroimaging features in children with focal epilepsy to understand their impact on treatment decisions.

Contribution

The study emphasizes the diagnostic superiority of EEG over MRI and highlights the overuse of valproic acid in pediatric focal epilepsy.

Findings

EEG demonstrated higher diagnostic sensitivity compared to MRI in pediatric focal epilepsy.

Valproic acid was commonly prescribed despite guidelines recommending it for generalized epilepsy.

MRI-negative cases may still involve lesions, particularly in temporal lobe epilepsy.

Abstract

Objective: Focal epilepsy is the most frequent type of epilepsy in childhood, particularly after the first year of life. This study aims to analyze the clinical aspects, electrophysiological and neuroimaging findings, and genetic predispositions in pediatric focal epilepsy. Specifically, we investigate the association between these parameters and evaluate their impact on therapeutic decisions. Methods: This is a retrospective study, in which we enrolled 39 patients currently receiving follow-up in our unit, 20 male and 19 female. Using the Chi-squared test, we compared them considering several genetic traits, pre/peri/postnatal risk factors, family history, clinical and instrumental features, and treatments. Differences are considered significant with a p value < 0.005. Results: Our findings highlight the multifactorial nature of focal epilepsy, with a combination of genetic and environmental contributions. EEG demonstrated the highest sensitivity among diagnostic tools, being non-significant in only 12.8% of cases, while MRI (p < 0.001), CT (p < 0.04), and brain ultrasound had lower detection rates. MRI findings were significant in 43.6% of patients, predominantly showing vascular malformations (35.8%). MRI-negative findings were more common in temporal and occipital epilepsy, whereas MRI-positive results were observed in 100% of frontal seizures. Importantly, some MRI-negative cases may still be lesional, particularly in temporal lobe epilepsy, where focal cortical dysplasia could be present but undetected with standard imaging. Valproic acid remains the most commonly used anti-seizure medication, and, despite guideline recommendations, it was still prescribed as a first-line treatment in 34.3% of cases and is being used in 23.5% of female patients, raising concerns about its appropriateness. Conclusions: This study highlights the role of genetic and environmental risk factors in pediatric focal epilepsy. EEG showed superior diagnostic sensitivity over MRI, particularly in MRI-negative cases. While high-resolution MRI (3T or 7T) could improve lesion detection, its cost limits accessibility. Valproate was the most prescribed drug, despite its recommended use in generalized epilepsy, emphasizing the need for improved adherence to treatment guidelines. Together with other studies, these findings can contribute to optimizing diagnostic and therapeutic strategies for pediatric focal epilepsy.

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