Lennox-Gastaut syndrome (LGS), Dravet syndrome (DS), and tuberous sclerosis complex (TSC)-associated epilepsy are rare conditions associated with severe childhood-onset epilepsy. Caregivers play a critical role in the patients’ care and may experience significant psychosocial and socioeconomic burden. This cross-sectional study determined the burden of caring for patients with these rare epilepsy conditions in Japan. A quantitative online survey was used to assess patients’ and caregivers’ characteristics and the caregivers’ emotional state, among others. Several validated questionnaires were used: the Hospital Anxiety and Depression Scale (HADS; 0–21 score) assessed the caregivers’ emotional wellbeing, the Pediatric Quality of Life Inventory Family Impact Module (PedsQL FIM; 0–100 score) assessed the health-related quality of life (HRQoL) of the caregivers and their families, and the Work Productivity and Activity Impairment General Health (WPAI:GH; 0–100 % score) questionnaire assessed work productivity. A total of 36 caregivers responded (median [interquartile range (IQR)] age 43.5 [39.5, 48.3] years; 33/36 [92 %] female; 13/36 [36 %] working part-time and 13/36 [36 %] not working). Participants cared for 7/36 (19 %), 19/36 (53 %), and 10/36 (28 %) patients with LGS, DS, and TSC, respectively (median [IQR] age, 11.0 [6.8, 16.3] years; age at first seizure, 0 [0, 0] years). Patients received a median (IQR) of 4 (3, 5) treatment drug types. Patients experienced median (IQR) 3.0 (0, 21.0) epileptic seizures in the previous week; 28/36 (78 %) had severe intellectual disabilities, and 34/36 (94 %) had developmental delays. Caregivers reported stress (17/36 [47 %]), sleep problems (13/36 [36 %]), and anxiety (12/36 [33 %]). They spent a median (IQR) of 50.0 (17.5, 70.0) hours caregiving in the previous week, with 3.0 (1.0, 11.0) hours of seizure-specific care. Caregivers reported that their lives would be easier with a median (IQR) of 1.5 (0, 5.0) hours fewer per week caring for patients during/following seizures. Median HADS scores were 9.5 (‘suspected anxiety diagnosis’) and 7.5 (‘no depression’) for caregivers, and PedsQL FIM Total median score was 60.1, indicating HRQoL impairment for the caregiver and their family. WPAI:GH scores for paid workers indicated important work impairment. Higher caregiving hours (≥ 21 h vs. < 21 h in the previous week) resulted in higher caregiver burden as indicated by the HADS Total score (p = 0.0062) and PedsQL FIM Total score (p = 0.0007). Caregivers of patients with LGS, DS, or TSC in Japan experience a significant time burden, reduced HRQoL, and high level of work/activity impairment. Caregivers provide round-the-clock care to patients and rely on family and specialized caring services to help manage the increased caregiving time, which tends to be associated with greater emotional burden and HRQoL impact.

中文翻译：

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日本 Lennox-Gastaut 综合征、Dravet 综合征和结节性硬化症相关癫痫患者护理负担的定量横断面研究

Lennox-Gastaut 综合征 (LGS)、Dravet 综合征 (DS) 和结节性硬化症 (TSC) 相关癫痫是与严重儿童期癫痫相关的罕见疾病。护理人员在患者护理中发挥着关键作用，可能会承受重大的社会心理和社会经济负担。这项横断面研究确定了日本治疗这些罕见癫痫病患者的负担。使用定量在线调查来评估患者和护理人员的特征以及护理人员的情绪状态等。使用了几份经过验证的问卷：医院焦虑和抑郁量表（HADS；0-21 分）评估了护理人员的情绪健康，儿科生活质量量表家庭影响模块（PedsQL FIM；0-100 分）评估了健康相关的健康状况。护理人员及其家人的生活质量 (HRQoL) 以及工作生产力和活动损害一般健康 (WPAI:GH; 0–100% 分数) 调查问卷评估了工作生产力。共有 36 名护理人员做出了回应（中位[四分位距 (IQR)] 年龄为 43.5 [39.5, 48.3] 岁；33/36 [92 %] 为女性；13/36 [36 %] 从事兼职工作，13/36 [36] %] 不起作用）。参与者分别照顾 7/36 (19 %)、19/36 (53 %) 和 10/36 (28 %) 的 LGS、DS 和 TSC 患者（中位 [IQR] 年龄为 11.0 [6.8, 16.3]岁；首次癫痫发作年龄，0 [0, 0] 岁）。患者接受的中位数 (IQR) 为 4 (3, 5) 种治疗药物类型。患者在前一周经历过中位 (IQR) 3.0 (0, 21.0) 癫痫发作； 28/36 (78%) 的人有严重的智力障碍，34/36 (94%) 的人有发育迟缓。护理人员报告有压力（17/36 [47 %]）、睡眠问题（13/36 [36 %]）和焦虑（12/36 [33 %]）。他们上周花费的中位数 (IQR) 为 50.0 (17.5, 70.0) 小时进行护理，其中 3.0 (1.0, 11.0) 小时用于癫痫发作特定护理。护理人员报告说，如果每周在癫痫发作期间/癫痫发作后护理患者的时间中位数 (IQR) 减少 1.5 (0, 5.0) 小时，他们的生活会更轻松。护理人员的 HADS 中位数得分为 9.5（“疑似焦虑诊断”）和 7.5（“无抑郁”），PedsQL FIM 总中位数得分为 60.1，表明护理人员及其家人的 HRQoL 受损。 WPAI：有偿工人的 GH 分数表明存在严重的工作障碍。 HADS 总分 (p = 0.0062) 和 PedsQL FIM 总分 (p = 0.0007) 表明，较高的护理时间（前一周≥ 21 小时与 < 21 小时）会导致较高的护理人员负担。在日本，LGS、DS 或 TSC 患者的护理人员面临着巨大的时间负担、HRQoL 下降以及严重的工作/活动障碍。护理人员为患者提供全天候护理，并依靠家庭和专业护理服务来帮助管理增加的护理时间，这往往与更大的情绪负担和 HRQoL 影响相关。