JUVENILE MYOCLONIC EPILEPSY AND NEURO REHABLITATION IN CHILDREN

Psychiatry and Clinical Neurosciences, 1992

Thirty-two patients with juvenile myoclonic epilepsy (JME) were studied to evaluate the seizure prognosis. The response to antiepileptic drugs ww excellent in 68%, but the patients, who had much more focal discharges on EEG and were sensitive to neuropsychological EEG activations at the beginning of treatment, had an unfavorable outcome. A combination of absence seizure alone resulted in the excellent prognosis for both absence and myoclonic seizures, and a combination of generalized tonic-clonic seizure on awakening related to rare myoclonic seizures. These findings suggest that the outcome of JME would be predicted by the EEG abnormality and the combination of the other types of seizures, which are probably determined by the pathophysiology at the beginning of treatment.

2017

Journal of the Neurological Sciences, 2001

Juvenile myoclonic epilepsy (JME) is a common idiopathic generalized epileptic syndrome distinctively characterized by myoclonic jerks often associated to generalized tonic-clonic seizures (GTCS) and typical absence seizures. In spite of typical clinical and EEG profiles, JME is widely underdiagnosed. In the present study we retrospectively revised clinical and EEG data of JME patients referring to our Epilepsy Service. A diagnosis of JME could be made in 63 patients, that is 5.7% of all the epileptic patients referring to our Service and 25.9% of those suffering from an idiopathic generalized epilepsy. General features as well as modality of onset and course of the syndrome of our JME subjects were in accordance with literature. Regarding EEG findings, asymmetries were detected in 38.1% of cases. At referral to our Service only 31.7% of JME patients were correctly diagnosed. Main factors responsible for misdiagnosis were failure in eliciting a history of myoclonic jerks and misinterpretation of myoclonic jerks as simple partial seizures. EEG asymmetries were misleading in 13 patients. In conclusion, a correct JME diagnosis is strictly dependent on the knowledge of the syndrome leading the interviewer to look for and correctly interpret myoclonic jerks whereas EEG is just an ancillary diagnostic tool.

Medical review, 2014

Introduction. Juvenile myoclonic epilepsy is considered to be a chronic disease requiring lifelong antiepileptic treatment. The aim of this study was both to identify factors predicting the kind of seizure control and to investigate the outcome in patients after therapy withdrawal. Material and Methods. The study included 87 patients (49 female, 38 male), aged from 17.5 to 43.5 years, referred to our Department between 1987 and 2008, with the seizure onset at the age of 14.3+2.9, and followed up for 13.3+5.8 years on average (from 5 to 23 years). Results. Sixty seven (77.0%) patients were fully controlled; whereas 13.8% had persistent seizures and 9.2% showed pseudoresistance. The combination of three seizure types and focal electroencephalogram features were independent factors of poor seizure control. Therapy was discontinued in 34 patients either by the treating physician (in 21 patients) or by the patients themselves (in 13 cases). In 18 subjects, all seizure types relapsed afte...

Seizure, 2002

We have observed epileptic seizures of juvenile myoclonic epilepsy (JME) to be surprisingly sensitive to higher mental activity. The purpose of the present study was to examine changes over time in seizure susceptibility in two patients with JME who we followed-up for over 20 years. During the period, they were repeatedly subjected to provocative cognitive tasking, that is, to 'neuropsychological EEG activation'. Tasks included reading, speaking, writing, written arithmetic, mental calculation, and spatial construction. During the first 15 years after the onset of symptoms, higher mental activities, mainly associated with use of the hands, i.e. writing, written calculation, and spatial construction, as well as physiological factors, such as sleep deprivation, awakening, and fatigue, precipitated the seizures. Generalized tonic-clonic and absence seizures but not myoclonic seizures disappeared almost completely after antiepileptic treatment. After age 30, the provocative effe...

Seizure, 2017

To evaluate the quality of sleep, its architecture and occurrence of epileptiform discharges with their distribution across various stages of sleep in patients of Juvenile myoclonic epilepsy (JME), both drug naïve as well as those already on treatment. Methods: 99 patients of JME [36 drug naïve, 63 on antiepileptic drug(s) (AED)], and 30 healthy controls were recruited. Sleep quality and daytime sleepiness were evaluated with Pittsburgh Sleep Quality Index (PSQI) and Epworth Sleepiness Scale (ESS), respectively.Polysomnography (PSG) was done to assess the sleep architecture. The EDI (Epileptiform Discharge Index) per stage of sleep was calculated. Results: JME patients had significantly poor quality of sleep by PSQI (p = 0.02).PSG revealed reduced sleep efficiency [p < 0.001], increased sleep latency [p = 0.02], increased%WASO [p < 0.001], increased%N1 [p = 0.01] and decreased% REM sleep [p = 0.002] in the patients compared to controls. Epileptiform discharges were frequent among drug naïve JME patients [drug naïve, 868 vs. 727, treatment group]. EDI was higher in N1 (p = 0.001) and N2 (p = 0.007) in drug naïve compared to JME patients on treatment. EDI in valproate treatment group was relatively lower to other AEDs. Conclusion: JME is associated with poor sleep quality and altered architecture, irrespective of treatment status. REM sleep is significantly decreased in JME patients. Epileptiform discharges are frequent in lighter NREM sleep and EDI is higher in drug naïve patients. Although AEDs disrupt the NREM sleep, their use is associated with arousal stability in lighter stages of sleep and lower EDI, in particular with valproate.

Seizure-european Journal of Epilepsy, 2014

Juvenile myoclonic epilepsy (JME) is the most common type of genetic (idiopathic) generalized epilepsy, comprising 5-10% of all epilepsies. 1 Onset is usually in the second decade, and the cardinal symptom is early-morning myoclonic seizures (MC), often precipitated by sleep deprivation. Approximately 90% of patients have generalized tonic-clonic seizures (GTC), and one third has absence seizures. 2 Although response to appropriate treatment is good for most patients, 3,4 JME has been considered a lifelong disorder with a high risk of seizure relapse on discontinuation of antiepileptic drugs (AEDs). 5-7 Nevertheless, four long-term follow-up studies have shown that some patients may stop AED treatment and remain seizure free. 8-11 In contrast to the seemingly positive seizure outcome in the majority, there is expanding evidence of an unfavorable psychosocial outcome in many patients. 9,12 This has been ascribed to a subtle frontal lobe dysfunction in JME. 13,14 As long-term studies of JME are scarce, there is a need for more clinical research on the course and prognosis of this syndrome. Thus, we aimed to assess the severity of the disorder in a cohort of patients after at least 20 years of follow-up, and to study clinical characteristics in relation to seizure and psychosocial outcome. 2. Methods In 1992, consecutive patients with JME at Trondheim University Hospital were identified for recruitment in a study on the association with human leukocyte antigens. 15 The clinical diagnosis of JME was based on the 1989 classification of epilepsies and epileptic syndromes by the International League Against

Epilepsy &amp; Behavior, 2013

Juvenile myclonic epilepsy (JME) can be firmly diagnosed by a careful interview of the patient focusing on the seizures and by the EEG with the help, if necessary, of long-term video-EEG monitoring using sleep and/or sleep deprivation. Background activity is normal. The interictal EEG shows diffuse or generalized spike-wave (SW) and polyspike-wave (PSW) discharges. In some patients, non-specific changes or misleading features such as focal changes are found. Changes are mostly seen at sleep onset and at awakening. Provoked awakenings are more likely to activate interictal paroxysmal abnormalities than spontaneous awakenings. The presence of a photoparoxysmal response with or without myoclonic jerks (MJ) is common (30% of the cases). Myoclonic jerks are associated with a discharge of fast, irregular, generalized PSWs that predominate anteriorly. Myoclonic jerks appear to be associated with rhythmic EEG (spike) potentials at around 20 Hz. These frequencies are in the range of movement-related fast sensorimotor cortex physiological rhythms. The application of jerk-locked averaging technique has provided findings consistent with a cortical origin of MJ. Paired TMS (transcranial magnetic stimulation) studies showed a defective intracortical inhibition, due to impaired GABA-A mediated mechanisms. In this review, we present the EEG characteristics of JME with particular emphasis on the pathophysiology of MJ and on the role of sleep deprivation on interictal and ictal changes.

Epilepsia, 2007

According to the WHO 50 million people suffer from epilepsy; 80% of them live in resource poor countries (WHO, 2001). In these settings, classification of seizures in view of adequate treatment has been difficult due to lack of diagnostic tools such as electroencephalograms (EEG) and imaging. Drawing from a vast working experience of many years in neurology in developing countries, the authors developed a classification system for seizures suitable for local circumstances. Considering clinical, diagnostic, prognostic and therapeutic needs, we adjusted the International Classification of Epileptic Seizures (ICES) and opted for a simple-structured, easy-to-understand classification of epileptic seizures which is still in accordance with the ICES and in fact shares many similarities with the ILAE version of guidelines for epidemiologic studies on epilepsy (ILAE 1981, ILAE 1993). EEG and neuroimaging are normally not available in developing countries, thus the diagnosis is based on clinical symptomatology alone. We suggest the following classification: 1) Generalised types of seizures: Generalised seizures within a specific age range: primary generalised seizures that start within a specific age group (mainly between 6 and 25 years). There is no obvious cause for the seizures, brain damage is absent. There may however be a positive family history, suggesting a possible genetic background. Seizures of this group may also be termed idiopathic generalised epilepsies. Generalised seizures outside a specific age range: primary generalised seizures that lie outside the specific age range of most of the idiopathic generalised epilepsies, but have no focal start and no clinical signs of brain damage. There may be a cause which cannot be diagnosed with the currently available ancillary means, thus these seizures may be termed "cryptogenic". 2) Partial types of seizures: Generalised seizures with diffuse brain damage: clinically seizures start in a generalised way, however, diffuse brain damage is obvious, which is the major difference when compared to group 1. Causes are mainly due to static encephalopathies. All age groups can be affected, but there tends to be a shift to the younger ages. Generalised seizures with focal signs: secondary generalised seizures with a focal start or clear unilateral seizures but without major brain damage. There may be developmental delay, subtle signs of brain damage and/or focal neurology. Causes are often due to progressive encephalopathies. All age groups can be affected. Complex partial seizures: as defined by the ILAE (ILAE 1981). Simple partial seizures: as defined by the ILAE (ILAE 1981).

Epilepsy & Behavior, 2012

Sleep and epilepsy share a complex pathophysiological association. Juvenile myoclonic epilepsy (JME) is a common sleep-sensitive epilepsy in which the effect of seizures could have therapeutic implications in terms of sleep disturbances and seizure control. This study aimed to analyze the effect of epilepsy on sleep in patients with JME. Fifty patients on valproic acid (VPA) monotherapy, and age-and gender-matched controls were recruited into this prospective, hospital-based, case-control study after informed consent and screening for inclusion criteria. They underwent a detailed clinical assessment, electroencephalogram (EEG) and neuroimaging, and were administered validated sleep questionnaires, which included the Epworth Sleepiness Scale (ESS), Pittsburgh Sleep Quality Index (PSQI) and NIMHANS Sleep Disorders Questionnaire. The patient and control groups had identical numbers of males and females (M: F = 22: 28), without any significant difference in the age and body mass index (BMI). The clinical profile of JME was similar to published literature while the prevalence of EEG abnormalities was less compared to similar studies. The mean ESS and PSQI scores and the number of subjects with abnormal scores on one or both questionnaires were significantly more in patients. Patients had a higher prevalence of sleep disturbances, insomnia and excessive daytime somnolence. No significant seizure-or treatment-related factors influencing sleep could be identified. This study, the first of its kind, revealed that patients with JME have significant sleep disturbances characterized by excessive daytime sleepiness and disturbed night sleep, despite adequate medications and good seizure control. The role of VPA in the genesis of these symptoms needs clarification.

Epilepsy & Behavior, 2018

Introduction: Juvenile Myoclonic Epilepsy (JME) is an epileptic syndrome often regarded as one in which seizures are relatively easy to control. Not infrequently, however, individuals with JME require lifelong therapy to remain seizure-free and a few have refractory epilepsy. We ascertained a population with JME and characterized a refractory subgroup. Material and Methods: We audited and reviewed clinical records of individuals diagnosed with JME identified via a sample of 6,600 individuals in a clinical database at a specialized epilepsy clinic at a tertiary referral center. Results: We identified 240 people with a diagnosis of JME (146 females), with mean age at seizure onset 14.2 years (SD 4.5) and mean age at diagnosis 15.6 years (SD 4.9). Clinical phenotypes seen were classic JME phenotype (88%), childhood absence epilepsy evolving into JME (6%), JME with adolescent absences (4%) and JME with astatic seizures (2%). More than a quarter (28%) had a family Highlights  JME is often said to be benign but not infrequently people have refractory seizures  Classic phenotype is the most frequent in refractory cases  More than a quarter have a family history of epilepsy  During the previous year, seizure freedom was only seen in about half of the cohort  JME has a variable prognosis without clear markers to predict a refractory course

Seizure, 1998

Of 1300 epileptic patients 76 (5.8%) were found to have juvenile myoclonic epilepsy (JME). These 76 patients were examined at the epilepsy outpatient clinic of Bakirkoy State Hospital for Neurological and Psychiatric Diseases between 1991 and 1996 and data obtained were analysed retrospectively. Clinically typical absence seizures were reported in 40.8%, myoclonic jerks in lOO%, and generalized tonic<lonic seizures in 82.9% of the patients. Neurological and mental examination was normal for all patients with the exception of three cases; two with essential tremor and one with minimal dysarthria. Precipitating factors were noted in 85.5% of cases. Abnormal EEG was recorded in 73 (6.1%) patients. Abnormalities mainly consisted of generalized discharges of spike/polyspike and slow-wave (86.6%) and generalized paroxysmal theta or delta (9.2%). Fifteen (19.7%) had focal abnormalities and 20 (26.4%) had photoconvulsive discharges. Of the 76 patients, 40 (52.6%) were not diagnosed at the initial interview; definite diagnosis was delayed by a mean of 5.9 years. As a result of misdiagnosis at the initial interview 40 patients had been administered AED except for valproate. After reassessment of clinical and EEG findings, the medication was changed to valproate therapy. As a result, 65 of our JME patients (85.5%) were seizure free after a one-year follow-up period.

International Journal of Research in Medical Sciences, 2022

Background: In 2017, the international league against epilepsy (ILAE) classification of epilepsies described the "genetic generalized epilepsies", which contained the "idiopathic generalized epilepsies". This study delineates the four syndromes comprising the IGEs: childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy (JME), and epilepsy with generalized tonic-clonic seizures alone (GTCA). JME patients usually present with myoclonic seizures, and GTCA patients present with GTCS only after awakening from sleep. Aim of the study was to identify the differences between juvenile myoclonic epilepsy and epilepsy with generalized tonic-clonic seizures alone by semiology and EEG with updated terminology under the observation of the clinicians. Methods: This was a prospective observational study and was conducted in the epilepsy clinic, department of neurology, Bangabandhu Sheikh Mujib medical university, from February 2021 to July 2022. The sample size was 60. Results: Among 60 patients, family history was present in 12 (20%) and 6 (10%) JME and GTCA patients, respectively. In this study, the EEG finding of generalized spike-wave (2.5-5.5 Hz) was seen in 26 (43%) and 19 (32%) among JME and GTCA patients, respectively. Generalized Polyspike wave (2.5-5.5 Hz) was seen in 26 (43%) JME patients, and EEG was normal in 15 out of 60 patients of epilepsy. In EEG findings, 2.5-5.5 Hz generalized spike-wave should be diagnosed in JME and GTCA patients as a special group of IGEs. Conclusions: In this study, we have recognized and differentiated between juvenile myoclonic epilepsy and generalized tonic-clonic seizures alone by semiology and EEG in IGE syndromes as a special grouping among the IGEs is helpful as they carry prognostic and therapeutic implications.

Jentashapir Journal of Health Research, 2014

Background: Juvenile myoclonic epilepsy is the most common type of generalized idiopathic epilepsy. Sodium valproate is the first line of medications, but has many complications and 15% of patients are resistant to this medicine. This is a lifelong disease and in case of stopping the medication, relapsing of seizures is seen in more than 80% of cases. Objectives: Analysis the effectiveness of these two drugs on controlling patients seizures by comparing them in mono therapy treatment of JME and to represent levetiracetam as a replacement of sodium valproate for first line medication of JME. Patients and Methods: In this study we compared the effectiveness of sodium valproate and levetiracetam for 66 patients having juvenile myoclonic epilepsy and followed them for 6 months. Results: Comparison of mean generalized tonic colonic attacks in two groups with didn't show meaningful differences (P = 0.95) , also, by comparing the mean of myoclonus attacks in patients of two groups before starting study, no meaningful difference was gained (P = 0.71). Conclusions: It became clear at the end of the study that the effectiveness of two drugs were the same and they didn't have any meaningful difference. According to the result gained from this study, levetiracetam is a proper alternative treatment instead of sodium valproate which has appropriate effectiveness along with lower complications.

Seizure, 2015

Juvenile myoclonic epilepsy (JME) is the most common type of idiopathic generalized epilepsy (IGE); comprising 5-10% of all epilepsies [1]. The cardinal symptoms are myoclonic jerks of upper extremities; often precipitated by sleep deprivation [2,3]. Chronosensitivity is necessary for diagnosis. Occurrence of myoclonia exclusively on or after awakening and age of onset between 10 and 25 years are considered Class I diagnostic criteria while Class II comprises myoclonia occurring predominantly on or after awakening; sensitivity to visual stimuli; praxis induction (PI) and a wider 6-25 years range for onset of epilepsy [4]. Generalized tonic-clonic seizures (GTCS) are present in approximately 80-95% of patients and one third has absences [2]. Recently; data regarding long term prognosis of JME have been published [5-10]. Despite the recognition of some prognostic predictors such as presence of all three types of seizures; psychiatric comorbidity and drug resistance [10-13]; clinical diversity of JME is remarkable and the severity of the disorder itself has only rarely been analyzed [14-16]. PI, one of the four reflex epileptic traits that occur in JME, is defined as precipitation of seizures or epileptiform discharges (ED)