Clinical Characteristics and Prognosis of Juvenile Myoclonic Epilepsy: Single-Center Retrospective Study

IF 0.2 Q4 PEDIATRICS

Journal of Pediatric Epilepsy Pub Date : 2022-12-21 DOI:10.1055/s-0043-1764390

T. Çelik, H. Başpınar

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Abstract

Abstract Juvenile myoclonic epilepsy (JME) is one of the most common idiopathic (genetic) generalized epilepsy syndromes. It occurs in healthy adolescents and is characterized by the triad of myoclonic jerks, generalized tonic-clonic seizures (GTCs), and absence seizures. The study's primary aim was to determine the demographic and clinical characteristics, family history of seizure, electroencephalogram findings, treatments, and short-term prognosis of patients diagnosed with JME. Patients diagnosed with JME at the Pediatric Neurology Department of Sağlık Bilimleri University Adana Numune Training and Research Hospitals were enrolled. Thirteen (30%) of 44 patients were male, whereas 31 (70%) were female, with a mean age at diagnosis of 14 ± 1.3 years. In total, 21 patients (48%) had a family history of epilepsy, and 14 patients (32%) had JME in their families. Those having a family history of JME seizures were identified at a younger age. Thirty (68%) patients presented with GTCs, while 14 (32%) presented with myoclonic seizures at the time of diagnosis. In the history, 98% of patients had myoclonus and one patient had an absence seizure. Patients with the first seizure type GTCs were diagnosed later, while patients with myoclonus were diagnosed earlier ( p < 0,05). The most precipitating factors for seizures were sleep deprivation and stress. Thirty-eight (86%) of the EEGs recorded during the initial admission was abnormal. Valproic acid was administered to 32 patients (73%), while levetiracetam was administered to 12 patients (27%) as the initial treatment. Forty-one (93%) of the patients exhibited a complete response to the initial medication therapy, while forty (91%) of the patients received monotherapy, and only four (9%) received polytherapy. JME may be well-controlled epilepsy with early diagnosis and appropriate treatment. A family history of JME is also common among patients with JME. Patients with the myoclonus as a first seizure type are diagnosed earlier than GTCs because of family awareness. A family history of JME may facilitate the diagnosis of new cases in the family.

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青少年肌阵挛性癫痫的临床特点及预后:单中心回顾性研究

青少年肌阵挛性癫痫(JME)是最常见的特发性(遗传性)全身性癫痫综合征之一。它发生在健康青少年中，以肌阵挛抽搐、全身性强直-阵挛发作(GTCs)和失神发作为特征。该研究的主要目的是确定JME患者的人口学和临床特征、癫痫家族史、脑电图结果、治疗方法和短期预后。在Sağlık Bilimleri大学Adana Numune培训和研究医院儿科神经内科诊断为JME的患者被纳入研究。44例患者中男性13例(30%)，女性31例(70%)，平均诊断年龄14±1.3岁。共有21例患者(48%)有癫痫家族史，14例患者(32%)有家族性癫痫。那些有JME发作家族史的人在更年轻的时候就被发现了。30例(68%)患者表现为gtc, 14例(32%)患者在诊断时表现为肌阵挛性发作。病史中，98%的患者有肌阵挛，1例患者有失神性癫痫发作。首次发作型gtc患者诊断较晚，而肌阵挛型患者诊断较早(p < 0.05)。导致癫痫发作的最主要因素是睡眠不足和压力。初次入院时记录的脑电图中有38例(86%)异常。32例(73%)患者使用丙戊酸，12例(27%)患者使用左乙拉西坦作为初始治疗。41例(93%)患者对初始药物治疗有完全反应，40例(91%)患者接受单一治疗，只有4例(9%)患者接受综合治疗。通过早期诊断和适当治疗，JME可能是一种控制良好的癫痫。JME的家族史在JME患者中也很常见。由于家庭意识的提高，首次发作类型为肌阵挛的患者比gtc更早被诊断出来。JME家族史有助于诊断家族新发病例。

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来源期刊

Journal of Pediatric Epilepsy PEDIATRICS-

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期刊介绍： The Journal of Pediatric Epilepsy is an English multidisciplinary peer-reviewed international journal publishing articles on all topics related to epilepsy and seizure disorders, epilepsy surgery, neurology, neurosurgery, and neuropsychology in childhood. These topics include the basic sciences related to the condition itself, the differential diagnosis, natural history, and epidemiology of seizures, and the investigation and practical management of epilepsy (including drug treatment, neurosurgery and non-medical and behavioral treatments). Use of model organisms and in vitro techniques relevant to epilepsy are also acceptable. Journal of Pediatric Epilepsy provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis and treatment of childhood epilepsy.