2017 年和 2022 年 ILAE 癫痫分类系统确定了护理中的需求和机遇：一项儿科医院为基础的研究。

Department of Paediatrics, Galway University Hospital, Ireland.

Epilepsy Behav. 2024 Aug;157:109804. doi: 10.1016/j.yebeh.2024.109804. Epub 2024 Jun 10.

OBJECTIVES

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.

CONCLUSION

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.

目的

使用 2017 年和 2022 年国际抗癫痫联盟（ILAE）分类系统在日常临床实践中报告癫痫谱的研究很少。为了确定护理中的差距和机会，我们评估了一个基于医院的队列，应用这些癫痫分类系统，包括病因和合并症，以及分子遗传学诊断在确定可用的精准治疗方法方面的作用。

方法

对 2017 年至 2022 年在戈尔韦大学医院就诊的所有≤16 岁的癫痫儿童进行横断面回顾性研究。为了确保系统的方法和最近的 ILAE 分类和术语（2017 年和 2022 年）的应用，对每个病例的数据收集和分析进行了标准化。获得了伦理批准。

结果

在 356 名儿童中，癫痫分为局灶性（46.1%）、全面性（38.8%）、混合性（6.2%）和未知性（9%）。确定了 145/356（40.7%）例癫痫综合征，包括 24 种不同的综合征，最常见的是选择性癫痫综合征（9%）、儿童全面性癫痫伴热性惊厥附加症（7%）、婴儿痉挛症（6.2%）和婴儿癫痫伴游走性局灶性发作（5.9%）。确定了新的病因特异性综合征（如 CDKL5-DEE）。分子诊断在 19.9%（n=71）的患者中得到了证实，其中包括单基因（13.8%）和染色体病/CNV（6.2%）。另有 35.7%（n=127）的患者被认为具有癫痫的遗传病因。剩余病因包括结构性（18.8%，n=67）、感染性（2%，n=7）、代谢性（1.7%，n=6）和未知性（30.3%，n=108）。182 名患者（38.8%为 DE，另有 11.8%为 DEE）进行了脑病分类，伴有一系列共病，包括全球发育迟缓（29.2%，n=104）、严重神经功能障碍（16.3%，n=58）和自闭症谱系障碍（14.6%，n=52）。认为有 21/356（5.9%）名患者有分子“精准治疗”，13/356（3.7%）名患者采用了“分子精准”方法，在整个队列的 6/356（1.7%）或分子队列的 6/71（8.5%）的患者中观察到一些获益。