Choudhury Cankatika, Sahib Akhil, Chaudhry Neera, Gupta Manushree, Chandan Shishir K, Laskar Sanghamitra
Neurology, Govind Ballabh Pant Institute of Postgraduate Medical Education and Research, New Delhi, IND.
Psychiatry, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, IND.
Cureus. 2024 Sep 11;16(9):e69228. doi: 10.7759/cureus.69228. eCollection 2024 Sep.
Juvenile myoclonic epilepsy (JME) is a well-controlled genetic generalized epilepsy (GGE) syndrome with a favourable prognosis but the long-term outcome is still controversial due to the presence of personality traits, executive dysfunction, and psychiatric disorders inherent to this condition. Also, the existing literature on quality of life (QoL) in adolescent patients of JME is sparse. This study was done to assess the QoL, its determinants, and the presence of psychiatric comorbidities in JME.
The study was a hospital-based observational cross-sectional study of 50 participants done over 18 months. Patients of JME aged over 11 years fulfilling the diagnostic and electroencephalographic criteria were included in the study. Adolescent and adult JME participants were interviewed with the Quality of Life in Epilepsy-Adolescents-48 (QOLIE-AD-48) and patient-weighted Quality Of Life in Epilepsy-31 (QOLIE-31-P), respectively, for assessment of QoL, the domains affected, and its impact on overall QoL. They were also screened for psychiatric disorders with Mini International Neuropsychiatric Interview 7.0.2 (M.I.N.I. 7.0.2), a brief diagnostic-structured interview that has modules for each diagnostic category. The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) was used for further diagnostic categorization.
Fifty patients with JME were enrolled. The mean age was 24.14 ± 7.7 years, of which 32 (64%) were female patients. The overall QOLIE-31-P score in adult JME participants was fair (62.29 ± 25.02). The impacted subdomains in adults were of seizure worry (47.73 ± 24.62) and cognitive functioning (46.41 ± 25.32). The mean QOLIE-48-AD score of adolescent JME study participants was fair (69.71 ± 13.13). The physical functioning (57.36 ± 18.94) and health perception (56.5 ± 16.9) domains were found to be impacted in adolescents. Five (10%) of the patients had anxiety and three (6%) of the participants had depression. A significant association was seen between the occurrence of generalized tonic-clonic seizure (GTCS) frequency (per year) and the presence of psychiatric comorbidity (p-value < 0.05).
JME may have a negative impact on overall QoL in both adolescents and adults despite adequate seizure control. Fear of seizure recurrence, cognitive issues, negative perception of health, and comorbid psychiatric disorders need to be addressed simultaneously and treated holistically as part of comprehensive epilepsy care to improve long-term outcomes.
青少年肌阵挛性癫痫（JME）是一种控制良好的遗传性全面性癫痫（GGE）综合征，预后良好，但由于该疾病固有的人格特质、执行功能障碍和精神障碍，其长期预后仍存在争议。此外，关于JME青少年患者生活质量（QoL）的现有文献较少。本研究旨在评估JME患者的生活质量、其决定因素以及精神共病情况。
本研究是一项基于医院的观察性横断面研究，共纳入50名参与者，研究历时18个月。年龄超过11岁且符合诊断和脑电图标准的JME患者被纳入研究。分别使用癫痫青少年生活质量量表-48（QOLIE-AD-48）和患者加权癫痫生活质量量表-31（QOLIE-31-P）对青少年和成年JME参与者进行访谈，以评估生活质量、受影响的领域及其对整体生活质量的影响。他们还使用迷你国际神经精神访谈7.0.2（M.I.N.I. 7.0.2）进行精神障碍筛查，这是一种简短的诊断性结构化访谈，每个诊断类别都有相应模块。使用《精神疾病诊断与统计手册》第五版（DSM-5）进行进一步的诊断分类。
共纳入50例JME患者。平均年龄为24.14±7.7岁，其中32例（64%）为女性患者。成年JME参与者的QOLIE-31-P总分中等（62.29±25.02）。成年患者中受影响的子领域是癫痫担忧（47.73±24.62）和认知功能（46.41±25.32）。JME青少年研究参与者的QOLIE-48-AD平均得分中等（69.71±13.13）。青少年的身体功能（57.36±18.94）和健康感知（56.5±16.9）领域受到影响。5例（10%）患者有焦虑症，3例（6%）参与者有抑郁症。全身性强直阵挛发作（GTCS）频率（每年）的发生与精神共病之间存在显著关联（p值<0.05）。
尽管癫痫发作得到了充分控制，但JME可能对青少年和成年人的整体生活质量产生负面影响。癫痫复发的恐惧、认知问题、对健康的负面认知以及共病的精神障碍需要同时得到解决，并作为综合癫痫护理的一部分进行整体治疗，以改善长期预后。
