The improvement in diagnosis and epilepsy managing in children with progressive myoclonus epilepsy during the last decade — A tertiary center experience in cohort of 51 patients

Abstract

The aim of the study was to explore whether diagnosis and managing children with progressive myoclonus epilepsy (PME) were improved during the last decade. Methods: The retrospective study included children with PME treated in the Institute during the last 25 years. Investigation time was divided in two periods (groups): before December 2010 (the first group) and after this period up to December 2019 (the second group). Inclusion criteria are as follows: patients aged from 0.2–18 years and with PME. Evaluated parameters are etiology, age at seizure onset, diagnosis delay, epilepsy phenotype, and, as a measure of epilepsy control — status epilepticus (SE) frequency and recurrence rate. Statistical analysis included the following tests: Chi-Square, Mann–Whitney, and analysis of variance (ANOVA), using SPSS version 25. Results: The study included 51 patients, 27 in the first, and 24 in the second group. The underlying diseases were: neuronal ceroid lipofuscinosis (NCL; 30), Gaucher (5), Niemann–Pick (4), mitochondrial (4), Lafora (3), Krabbe (2), and KCNC1 gene mutation (2). The average duration from initial symptoms to diagnosis was 3.2 ± 3 years (first group) vs. 1.4 ± 0.9 years (second). Both SE frequency rate (55.5% vs. 37.5%) and recurrence rate (66.7% vs. 22.2%) were higher in the first group, showing tendency towards, but not statistically significant difference. Conclusion: The diagnosis and epilepsy managing children with PME were improved during the last decade. Earlier genetic diagnosis, appropriate antiseizure medications, education of parents/caregivers of children in high risk for SE, and availability of effective prehospital rescue medications contributed to significantly decreased frequency and recurrence rate of SE. © 2020 Elsevier Inc.