METHODS: Cross sectional retrospective study of all children with epilepsy (≤16 years) attending University Hospital Galway (2017-2022). Data collection and analysis of each case was standardised to ensure a systematic approach and application of the recent ILAE categorisation and terminology (2017 and 2022). Ethics approval was obtained.
RESULTS: Among 356 children, epilepsy was classified as focal (46.1 %), generalised (38.8 %), combined (6.2 %), and unknown (9 %). Epilepsy syndrome was determined in 145/356 (40.7 %), comprising 24 different syndromes, most commonly SeLECTS (9 %), CAE (7 %), JAE (6.2 %) and IESS (5.9 %). New aetiology-specific syndromes were identified (e.g. CDKL5-DEE). Molecular diagnosis was confirmed in 19.9 % (n = 71) which encompassed monogenic (13.8 %) and chromosomopathy/CNV (6.2 %). There was an additional 35.7 % (n = 127) of patients who had a presumed genetic aetiology of epilepsy. Remaining aetiology included structural (18.8 %, n = 67), infectious (2 %, n = 7), metabolic (1.7 %, n = 6) and unknown (30.3 %, n = 108). Encephalopathy categorisation was determined in 182 patients (DE in 38.8 %; DEE in a further 11.8 %) associated with a range of co-morbidities categorised as global delay (29.2 %, n = 104), severe neurological impairment (16.3 %, n = 58), and ASD (14.6 %, n = 52). Molecular-based \"precision therapy\" was deemed available in 21/356 (5.9 %) patients, with \"molecular precision\" approach utilised in 13/356 (3.7 %), and some benefit noted in 6/356 (1.7 %) of overall cohort or 6/71 (8.5 %) of the molecular cohort.
CONCLUSIONS: Applying the latest ILAE epilepsy classification systems allow comparison across settings and identifies a major neuro-developmental co-morbidity rate and a large genetic aetiology. We identified very few meaningful molecular-based disease modifying \"precision therapies\". There is a monumental gap between aetiological identification, and impact of meaningful therapies, thus the new 2017/2022 classification clearly identifies the major challenges in the provision of routine epilepsy care.
方法:在高威大学医院(2017-2022年)就诊的所有癫痫患儿(≤16岁)的横断面回顾性研究。每个案例的数据收集和分析都是标准化的,以确保最近的ILAE分类和术语(2017年和2022年)的系统方法和应用。获得伦理批准。
结果:在356名儿童中,癫痫被归类为局灶性癫痫(46.1%),广义(38.8%),合并(6.2%),未知(9%)。在145/356(40.7%)中确定了癫痫综合征,包括24种不同的综合征,最常见的排泄物(9%),CAE(7%),JAE(6.2%)和IESS(5.9%)。鉴定了新的病因特异性综合征(例如CDKL5-DEE)。在19.9%(n=71)中确认了分子诊断,其中包括单基因(13.8%)和染色体病/CNV(6.2%)。另外35.7%(n=127)的患者患有癫痫的遗传病因。其余病因包括结构性(18.8%,n=67),传染性(2%,n=7),代谢(1.7%,n=6)和未知(30.3%,n=108)。在182例患者中确定了脑病分类(DE占38.8%;DEE占11.8%),与一系列归类为全球延迟的合并症(29.2%,n=104),严重的神经功能缺损(16.3%,n=58),和ASD(14.6%,n=52)。基于分子的“精确治疗”被认为在21/356(5.9%)患者中可用,在13/356(3.7%)中使用了“分子精度”方法,总体队列的6/356(1.7%)或分子队列的6/71(8.5%)中注意到一些益处。
结论:应用最新的ILAE癫痫分类系统可以在不同的环境中进行比较,并确定主要的神经发育共病率和大的遗传病因。我们发现很少有有意义的基于分子的疾病修饰“精确疗法”。在病因鉴定之间存在巨大的差距,以及有意义的疗法的影响,因此,新的2017/2022分类清楚地确定了提供常规癫痫治疗的主要挑战.