Caraballo Roberto H, Fortini Sebastian, Beltrán Lucas, Semprino Marcos, Galicchio Santiago, Espeche Alberto, Reyes Valenzuela Gabriela, Chacón Santiago, Gamboni Beatriz, Adi Javier, Fasulo Lorena, Calvo Agustin, Cachia Pedro
Hospital de Pediatría Prof. Dr. Juan P Garrahan, Buenos Aires, Argentina.
Centro Equipo de Neurodesarrollo INZIO, Tucumán, Argentina.
Brain Dev. 2025 Aug;47(4):104385. doi: 10.1016/j.braindev.2025.104385. Epub 2025 Jun 18.
Epilepsy is a common finding in children with autism spectrum disorders (ASD), but few studies describe the characteristics of epilepsy in these children. Our study aimed to characterize the electroclinical features of children with ASD and epilepsy through a retrospective multicenter study.
Patients with ASD who subsequently developed epilepsy seen at nine pediatric neurology departments were included. Patients with developmental and epileptic encephalopathies (DEE), chronic neurological diseases with epilepsy who developed autism, and those with non-epileptic paroxysmal disorders were excluded.
Overall, 74 patients were included, accounting for 15 % of 494 children with ASD seen between 2015 and 2023; 39 were female (52.7 %) and 35 male (47.3 %). Focal epilepsies were identified in 43 patients (58.1 %), which were non-self-limited in 24 and self-limited in 19. Generalized epilepsies were observed in 19 (25.7 %), including six with generalized tonic-clonic seizures alone (one in childhood, five in adolescence), nine with juvenile myoclonic epilepsy, one with childhood absence epilepsy, and three with juvenile absence epilepsy. Eight patients (10.8 %) had epileptic encephalopathies: EE-SWAS in six and epilepsy with myoclonic atonic seizures in two. Four patients (5.4 %) had combined focal and generalized epilepsy. No significant differences were found between epilepsy syndrome or type of epilepsy, seizure type, and comorbidities.
No specific epilepsy phenotype was identified in our patients with ASD; the types of epilepsy and syndromes were similar to those seen in the general population. Management should address both epilepsy and the broader complexities of ASD through an integrated approach.
癫痫是自闭症谱系障碍（ASD）儿童中的常见表现，但很少有研究描述这些儿童癫痫的特征。我们的研究旨在通过一项回顾性多中心研究来描述ASD合并癫痫儿童的电临床特征。
纳入在九个儿科神经科就诊的ASD且随后发生癫痫的患者。排除患有发育性和癫痫性脑病（DEE）、伴有癫痫的慢性神经疾病且继发自闭症的患者，以及患有非癫痫性发作性疾病的患者。
总体而言，共纳入74例患者，占2015年至2023年间就诊的494例ASD儿童的15%；其中女性39例（52.7%），男性35例（47.3%）。43例患者（58.1%）为局灶性癫痫，其中24例为非自限性，19例为自限性。19例（25.7%）为全身性癫痫，包括6例仅伴有全身强直阵挛发作（1例在儿童期，5例在青少年期）、9例青少年肌阵挛癫痫、1例儿童失神癫痫和3例青少年失神癫痫。8例患者（10.8%）患有癫痫性脑病：6例为癫痫伴慢波睡眠期持续棘慢波，2例为癫痫伴肌阵挛失张力发作。4例患者（5.4%）为局灶性和全身性癫痫合并。在癫痫综合征、癫痫类型、发作类型和合并症方面未发现显著差异。
在我们的ASD患者中未发现特定的癫痫表型；癫痫类型和综合征与普通人群相似。管理应通过综合方法兼顾癫痫和ASD更广泛的复杂性。
