Młodzieńcza epilepsja miokloniczna – obraz kliniczny zależy od wieku rozpoczęcia się napadów i podtypów
Juvenile myoclonic epilepsy – clinical picture depends on the age of seizure onset and subsyndromes
W skrócie
[Preprint - wstępne wyniki] Badanie wykazało, że młodzieńcza epilepsja miokloniczna rozpoczynająca się u dzieci poniżej 10 lat przebiega ciężej niż u nastolatków, z wyższym odsetkiem oporności na leki i częstszymi napadami absencji. Epilepsja rozpoczynająca się w nastoletnim wieku ma korzystniejsze rokowanie, szczególnie w klasycznej postaci. Wyniki podkreślają, że wiek początku choroby powinien być ważnym czynnikiem biorącym pod uwagę przy diagnozowaniu i leczeniu tej epilepsji.
Oryginalny abstract (angielski)
Abstract Purpose : Juvenile myoclonic epilepsy (JME) is a prevalent epilepsy syndrome that commonly presents in adolescence, but the clinical phenotype and prognosis may differ based on the age of onset. While the characteristics of JME in adolescents and adults are well delineated, there is limited understanding of how early-onset (≤10 years) JME differs from adolescent-onset JME (>10 years). This study aims to systematically compare the clinical features, drug resistance, and electroencephalographic (EEG) findings in patients with JME onset in childhood versus adolescence, with a particular focus on the four main subsyndromes of JME: classic JME, childhood absence epilepsy with JME (CAE/JME), juvenile absence epilepsy with JME (JAE/JME), and JME with astatic seizures. Methods A retrospective cohort study was conducted involving 100 patients diagnosed with JME at a single medical center between January 2008 and December 2018. Participants were stratified into two groups based on the age of onset: "children" (≤10 years) and "adolescents" (>10 years). Demographic, clinical, familial, and EEG data were extracted from medical records. Drug-resistant epilepsy was defined as failure to achieve seizure freedom following two appropriately selected antiseizure medications (ASM). Statistical comparisons were performed using chi-square tests, with a significance level set at p Results Children with early-onset JME exhibited significantly higher rates of drug resistance (p Conclusions The age of onset significantly influences the clinical presentation and prognosis of JME. Early-onset JME, particularly CAE/JME, is associated with a more severe disease course, higher drug resistance, and a greater likelihood of persistent absence seizures. In contrast, adolescent-onset JME, predominantly of the classic subtype, tends to have a more favorable prognosis. These findings underscore the importance of age-specific considerations in the diagnosis, management, and long-term treatment of JME. Future research should explore the genetic and neurobiological mechanisms underlying these age-related differences.