Abstract：
OBJECTIVE: There is a paucity of studies reporting the epilepsy spectrum using the 2017 and 2022 ILAE classification systems in everyday clinical practice. To identify gaps and opportunities in care we evaluated a hospital-based cohort applying these epilepsy classification systems, including aetiology and co-morbidity, and the utility of molecular genetic diagnosis to identify available precision therapies.
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.
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.
摘要：
目的：在日常临床实践中，很少有研究报告使用2017年和2022年ILAE分类系统的癫痫谱。为了确定护理中的差距和机会，我们评估了应用这些癫痫分类系统的基于医院的队列。包括病因和合并症，以及分子遗传诊断在识别可用的精确疗法方面的实用性。
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.
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.
