背景:Lennox-Gastaut综合征(LGS)和Dravet综合征(DS)很少见,儿童期发病条件与严重,治疗抗性癫痫和发育问题,包括运动和认知障碍。结节性硬化症(TSC)是一种罕见的遗传性疾病,通常与癫痫和其他神经精神疾病有关。这个横截面,基于访谈的研究检查了护理LGS患者的定性影响,DS,以及日本护理人员的TSC相关癫痫,从护理人员和医生的角度来看。
方法:调查包括一个面试前的工作表,描述照顾者的情感旅程,接下来是≤60分钟的一对一面试。符合条件的参与者是LGS患者的日本护理人员,DS,或TSC治疗癫痫症状,和日本居住的儿科医生或神经科医生治疗≥3例LGS患者,DS,和/或TSC。对面试问题的回答进行了内容分析,以确定最常见的回答倾向和主题。
结果:26名护理人员回答(平均[标准差(SD)]年龄,45.9[9.5]岁;年龄范围29-68岁;92%为女性),照顾LGS患者(n=5),DS(n=10),和TSC(n=11);患者平均(SD)年龄,13.6(10.0)岁;年龄范围2-44;27%的成年人;50%的女性。19位医生,治疗LGS患者(n=9),DS(n=7),和TSC(n=10),参与。护理人员和医生通常在影响护理人员情绪状态/生活质量(QoL)的因素上保持一致。在诊断时,最常报告的护理人员情绪是休克和沮丧,对未来的焦虑,并在接受诊断时感到宽慰。在整个疾病进展期间,直到调查时间的负面情绪主要是由癫痫发作恶化引起的,持续照顾/缺乏空闲时间的负担,和病人的发育问题。积极的情绪与有效治疗/减少癫痫发作有关;由于使用设施,空闲时间增加,服务,或其他护理支持;和发展进步。医生承认,护理人员需要咨询服务来支持他们的情感需求。在未满足的需求方面,护理人员和医生的反应是一致的服务/设施的可用性不足,缺乏有效的治疗方法,以及成人患者护理的不确定性。
结论:LGS患者的护理人员,DS,或日本的TSC相关癫痫报告了与频繁发作相关的高度情绪负担,发展问题,和不断的照顾。治疗效果欠佳的负担,获得支持服务的机会有限,长期护理的不确定性强调了重要的未满足的治疗需求。
BACKGROUND: Lennox-Gastaut syndrome (LGS) and Dravet syndrome (DS) are rare, childhood-onset conditions associated with severe, treatment-resistant epilepsy and developmental issues, including motor and cognitive impairment. Tuberous sclerosis complex (TSC) is a rare genetic disease commonly associated with epilepsy and other neuropsychiatric disorders. This cross-sectional, interview-based study examined the qualitative impact of caring for patients with LGS, DS, and TSC-associated epilepsy on caregivers in Japan, from the perspective of both caregivers and physicians.
METHODS: The survey included a pre-interview worksheet to describe caregivers\' emotional journeys, followed by a ≤ 60-minute one-on-one interview. Eligible participants were Japanese caregivers of patients with LGS, DS, or TSC treated for epilepsy symptoms, and Japan-residing pediatricians or neurologists treating ≥ 3 patients with LGS, DS, and/or TSC. Interview question responses were subjected to content analysis to identify the most common response tendencies and themes.
RESULTS: Twenty-six caregivers responded (mean [standard deviation (SD)] age, 45.9 [9.5] years; age range 29-68; 92 % female), caring for patients with LGS (n = 5), DS (n = 10), and TSC (n = 11); patient mean (SD) age, 13.6 (10.0) years; age range 2-44; 27 % adults; 50 % female. Nineteen physicians, treating patients with LGS (n = 9), DS (n = 7), and TSC (n = 10), participated. Caregivers and physicians generally aligned on the factors affecting caregivers\' emotional states / quality of life (QoL). The most frequently reported caregiver emotions at the time of diagnosis were shock and discouragement, anxiety for the future, and relief at receiving a diagnosis. Negative emotions throughout disease progression up until the time of survey were mainly caused by worsening of seizures, burden of constant caregiving / lack of free time, and patient\'s developmental issues. Positive emotions were linked to effective treatment / reduced seizures; more free time owing to the use of facilities, services, or other caregiving support; and developmental progress. Physicians acknowledged that caregivers required consultation services to support their emotional needs. In terms of unmet needs, caregiver and physician responses were aligned on the insufficient availability of services/facilities, the lack of effective treatments, and the uncertainties of adult patient care.
CONCLUSIONS: Caregivers of patients with LGS, DS, or TSC-associated epilepsy in Japan reported a high degree of emotional burden related to frequent seizures, developmental issues, and constant caregiving. The burden of suboptimal treatment effectiveness, limited access to support services, and uncertainties in long-term care emphasize important unmet treatment needs.