The aim of the study was to assess the self-reported burden of disease in people with idiopathic/genetic generalized epilepsy and risk factors associated with high disease burden.

We performed a nationwide online survey on epilepsy characteristics/treatment, quality of life/daily living followed by Standardized Assessment of Personality-Abbreviated Scale, Major Depression Inventory, Barratt Impulsiveness Scale (brief) and the brief Epilepsy Anxiety Survey Instrument. The survey was sent to 275 representative patients with IGE (‘Funen cohort’) and later publicly distributed via the Danish Epilepsy Association.

The characteristics of the responders of the ‘Funen cohort’ (n = 119) did not differ from non-responders and previously assessed data. Out of 753 persons accessing the public survey, 167 had probable IGE. As compared to the ‘Funen cohort’, patients from the public survey reported similar age, time since last seizure, years with disease, seizure types, and IGE syndromes but more current and previously tried anti-seizure medications (ASMs). In both cohorts, patients had higher scores for depression, impulsivity, and personality disorders as compared to Danish normal values irrespective of seizure control or medication. Higher depression and anxiety scores but neither impulsivity nor personality disorders were associated with ongoing seizures. Overall health condition was estimated as bad by 28%. In the last four weeks, 20.4% reported limitations of activities of daily living due to epilepsy; 27.8% felt fed up because of their epilepsy. Patients with high subjective disease burden had more current ASMs, shorter time since last seizure and increased scores for depression, anxiety, impulsivity, and personality disorders.

In conclusion, having IGE was associated with higher scores for impulsivity, depression, and personality disorders irrespective of seizure control and current treatment. High subjective disease burden was common and associated with ongoing seizures, absence/myoclonic seizures and high scores for impulsivity, depression, anxiety, and personality disorders.

该研究的目的是评估特发性/遗传性全身性癫痫患者自我报告的疾病负担以及与高疾病负担相关的危险因素。

我们对癫痫特征/治疗、生活质量/日常生活进行了全国性的在线调查，随后进行了人格缩略量表的标准化评估、重度抑郁量表、Barratt 冲动量表（简要）和简要的癫痫焦虑调查工具。该调查发送给 275 名 IGE 代表性患者（“Funen 队列”），随后通过丹麦癫痫协会公开分发。

“Funen 队列”反应者的特征 ( n = 119) 与无反应者和先前评估的数据没有区别。在访问公共调查的 753 人中，167 人可能患有 IGE。与“Funen 队列”相比，来自公共调查的患者报告的年龄、上次癫痫发作时间、患病年限、癫痫发作类型和 IGE 综合征相似，但更多的是当前和以前尝试过的抗癫痫药物 (ASM)。在两个队列中，与丹麦正常值相比，无论癫痫发作控制或药物治疗，患者的抑郁、冲动和人格障碍得分更高。较高的抑郁和焦虑评分，但冲动和人格障碍均与持续癫痫发作无关。整体健康状况估计为糟糕的 28%。在过去 4 周内，20.4% 的患者报告因癫痫导致日常生活活动受限；27. 8% 的人因为癫痫而感到厌烦。主观疾病负担高的患者有更多的当前 ASM，自上次癫痫发作以来的时间更短，抑郁、焦虑、冲动和人格障碍的评分增加。

总之，无论癫痫控制和当前治疗如何，IGE 都与冲动、抑郁和人格障碍的得分较高有关。高主观疾病负担很常见，并且与持续的癫痫发作、失神/肌阵挛性癫痫发作以及冲动、抑郁、焦虑和人格障碍的高分有关。