Personality profile of patients with juvenile myoclonic epilepsy

In the study described here we attempted to evaluate the personality profiles of 25 patients with juvenile myoclonic epilepsy (JME) at the time of diagnosis, before treatment, and to explore a potential relationship between behavioral aspects and clinical outcome. For this purpose we employed a standardized and objective instrument, the Minnesota Multiphasic Personality Inventory (MMPI), and found that patients with JME have a personality profile similar to that of the control group, which corresponds to the 3,1 code type MMPI profile. We also noted that the characteristics of this personality type include those described in patients with long-duration JME by previous researchers. Consequently, we conclude that personality aberrations are not a feature of this syndrome. Furthermore, we observed that under treatment, EEGs normalized in patients who had exhibited “psychotic tendencies” pretreatment. The credibility of our results is supported by the fact that assessment of the personality profile was not confounded by medication or the longitudinal burden of epileptic seizures.     

Personality profile of patients with juvenile myoclonic epilepsy

In the study described here we attempted to evaluate the personality profiles of 25 patients with juvenile myoclonic epilepsy (JME) at the time of diagnosis, before treatment, and to explore a potential relationship between behavioral aspects and clinical outcome. For this purpose we employed a standardized and objective instrument, the Minnesota Multiphasic Personality Inventory (MMPI), and found that patients with JME have a personality profile similar to that of the control group, which corresponds to the 3,1 code type MMPI profile. We also noted that the characteristics of this personality type include those described in patients with long-duration JME by previous researchers. Consequently, we conclude that personality aberrations are not a feature of this syndrome. Furthermore, we observed that under treatment, EEGs normalized in patients who had exhibited “psychotic tendencies” pretreatment. The credibility of our results is supported by the fact that assessment of the personality profile was not confounded by medication or the longitudinal burden of epileptic seizures.     

Topiramate in patients with juvenile myoclonic epilepsy

BACKGROUND: Topiramate is a broad-spectrum agent effective against primarily generalized tonic-clonic seizures (PGTCS) as well as partial-onset seizures. Juvenile myoclonic epilepsy is one of the most common idiopathic generalized epilepsies, with most patients experiencing PGTCS. OBJECTIVE: To evaluate topiramate as add-on therapy in patients with juvenile myoclonic epilepsy. DESIGN: Post-hoc analysis of a patient subset from 2 multicenter, double-blind, randomized, placebo-controlled, parallel-group trials. SETTING: Eighteen centers in the United States; 10 centers in Europe; 1 center in Costa Rica (primary trials). PATIENTS: A total of 22 patients with juvenile myoclonic epilepsy participating in placebo-controlled trials assessing topiramate (target dose, 400 mg/d in adults) in inadequately controlled PGTCS. MAIN OUTCOME MEASURE: Reduction of PGTCS. RESULTS: A 50% or more reduction of PGTCS in 8 of 11 topiramate-treated patients (73%) and 2 of 11 placebo-treated patients (18%) (P = .03). Reductions in myoclonic, absence, and total generalized seizures were also observed, although topiramate vs placebo differences did not achieve statistical significance. CONCLUSION: As a broad-spectrum agent, topiramate is an effective option for patients with juvenile myoclonic epilepsy.     

Treatment of myoclonic seizures in patients with juvenile myoclonic epilepsy

Drug treatment of Juvenile myoclonic epilepsy (JME) is mainly based on clinical experience and prospective and retrospective studies, with little evidence from randomized clinical trials. There are no head-to-head comparisons between old and new antiepileptic drugs (AEDs) and no drugs licensed specifically for JME. Valproate is unquestionably the drug of the first choice in men with JME. In women, lamotrigine should be preferred regarding teratogenicity and side effects of valproate. In addition, levetiracetam and topiramate are effective and can be use in combination or as second line treatment. Some AEDs can aggravate JME. In addition of AEDs, non-pharmacological treatments are important in JME. JME usually require lifelong treatment because seizures nearly always return after withdrawal of therapy.     

Neuropsychological EEG activation in patients with juvenile myoclonic epilepsy

We studied the effects of higher mental activity on the EEG, i.e., neuropsychological EEG activation (NPA), in patients with juvenile myoclonic epilepsy (JME). Thirty patients with JME underwent a conventional EEG recording and EEG recording during performance of a battery of twelve neuropsychological tasks, which involved decision making, reading, calculations, constructive activities and drawing. Twenty-three JME patients (76.6%) responded (i.e., showed EEG activation) to at least one neuropsychological task (p = 0.003). Four neuropsychological tasks, two involving the use of the hands and two without manual involvement, were associated with a high frequency of EEG activation (40-60% of JME patients), although statistical analysis did not reveal any one test as the most significant for NPA activation. Neuropsychological EEG activation, using a variety of tasks both manual and non-manual, is a useful tool in evaluating patients with JME.     

Personality disorder traits in patients with epilepsy

OBJECTIVE AND METHODS: The Questionnaire on Personality Traits (VKP: Vragenlijst voor Kenmerken van de Persoonlijkheid) was used to investigate personality disorder (PD) traits in 203 patients with epilepsy and a control group of 332 subjects from the general population. Furthermore, the association of PD traits with epilepsy-related variables was studied, as well as the association between PD traits and level of psychopathology. RESULTS: The results showed that, compared with the control group, patients with epilepsy had higher dimensional VKP scores for several Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) and International Classification of Diseases (ICD-10) PDs. Associations were found between PD traits and age at onset of epilepsy, duration of epilepsy, seizure frequency and number of anti-epileptic drugs. Anxiety and depression were not associated with PD traits. CONCLUSION: It is likely that suffering from epileptic seizures negatively influences personality development and can result in the development of maladaptive PD traits. The results also support the idea that PD traits are not (completely) covered by axis I psychopathology and therefore should be separately investigated.     

Analysis of background EEG activity in patients with juvenile myoclonic epilepsy

PURPOSE: To analyze background EEG activity of patients with juvenile myoclonic epilepsy (JME) with and without antiepileptic drugs. METHODS: We studied the background EEG activity in 18 patients with JME. The qEEG analysis included absolute power (AP), relative power (RP) and mean frequency (MF) of delta, theta, alpha and beta bands. The Z scores were calculated by comparison with population parameters based on the age-dependent regression function. Seven patients were unmedicated (UM) and eleven medicated (M). RESULTS: The UM group presented 69 (4.32%) abnormal Z scores and 227 (9.05%) in the M group (P<0.001). In the UM group, AP delta abnormal Z scores were identified in frontotemporal and occipital leads. In AP alpha and beta bands an increase in Z scores was encountered in frontoparietal leads in three patients. In addition, in three patients, the AP theta Z scores were below -1.96 and distributed in all regions. In the M group, AP beta Z scores were above 1.96 in frontoparietal leads in 7 of 11 patients. The AP delta increased above 1.96 in frontotemporal and occipital leads in 6 patients of 11. The AP alpha showed an abnormal decrease in Z scores in 5 of 11 patients, whereas other 5 patients presented normal scores. The AP theta presented 7 normal Z scores out of 11; this band exhibited the lowest number of abnormalities of the 4. CONCLUSION: Patients with JME have an increase in AP delta, alpha and beta bands, which is more evident in frontoparietal regions.     

Voxel-based morphometry evaluation of patients with photosensitive juvenile myoclonic epilepsy

We aim to investigate structural brain abnormalities in juvenile myoclonic epilepsy (JME) patients with photosensitivity (PS). Sixty JME patients, 19 (32%) of whom were photosensitive, were submitted to 1.5 T magnetic resonance voxel-based morphometry (VBM). The control group (CTL) consisted of 30 sex-matched healthy volunteers. JME patients with (JME-PS) and without (JME-NPS) PS did not differ in their duration of disease, treatment or seizure control. VBM revealed significantly reduced bilateral gray matter volume (GMV) in thalami, insula cortices and cerebellar hemispheres; while significantly increased GMV was observed in the right superior frontal, orbitofrontal and medial frontal gyri of the JME group compared to CTL. JME-PS had reduced bilateral GMV of visual cortices when compared with CTL; while it was not seen among JME-NPS patients. Reduced left hippocampus and left inferior frontal gyrus volume was observed among JME-PS compared with JME-NPS. This study demonstrates structural abnormalities beyond the limits of the frontal lobes and provides evidence for the role of the occipital cortex in human PS, reinforcing the existence of functional-anatomic ictogenic networks in JME and the concept of ‘system epilepsies’.     

Language- and praxis-induced jerks in patients with juvenile myoclonic epilepsy.

Reflex traits have been described in patients with idiopathic generalized epilepsy. We report on four patients with juvenile myoclonic epilepsy in whom the coexistence of praxis- and language-induced jerks was documented in video-polygraphic EEG recordings.[Published with video sequences].     

Focal clinical and electroencephalographic features in patients with juvenile myoclonic epilepsy

Jayalakshmi SS, Srinivasa Rao B, Sailaja S. Focal clinical and electroencephalographic features in patients with juvenile myoclonic epilepsy.
Acta Neurol Scand: 2010: 122: 115–123.
© 2009 The Authors Journal compilation © 2009 Blackwell Munksgaard. Objective – To identify prevalence and factors associated with occurrence of focal clinical and electroencephalogram (EEG) abnormalities in patients with juvenile myoclonic epilepsy (JME). Materials and methods – Clinical asymmetries in the seizures and focal EEG abnormalities were analyzed in 266 patients with JME. Results – All the patients had myoclonic jerks (MJ) and generalized tonic‐clonic seizures (GTCS); 56 (21%) had absence seizures. Asymmetry in clinical seizures was reported in 45 (16.9%) and focal EEG abnormalities were noted in 92 (45.5%) patients. Amplitude asymmetry or focal onset of generalized discharges was noted in 41 (44.6%) and independent focal EEG abnormalities in 30 (32.6%) patients. A statistically significant association was seen with the presence of GTCS and MJ (P = 0.007), a family history of epilepsy (P = 0.001) and drug resistance (P = 0.04) and the occurrence of focal EEG abnormalities. Conclusion – Patients with JME showed focal clinical and EEG features. These features should not be misinterpreted as indicative of partial epilepsy.     

CBF changes in drug naive juvenile myoclonic epilepsy patients

Abstract Purpose The role of thalamus and brainstem in generalized epilepsy has been suggested in previous studies. The aim of the present study was to assess regional cerebral blood flow (rCBF) abnormality in juvenile myoclonic epilepsy (JME) patients. Methods ^99mTc-ethylcysteinate dimer brain single photon emission computed tomography (SPECT) was performed in 19 drug naive JME patients and 25 normal controls with the similar age and gender distribution. Differences of rCBF between a JME group and a normal control group were examined by the statistical parametric mapping of brain SPECT images using independent t test. The regression analyses in SPM were also performed between rCBF and the age of seizure onset or the disease duration in JME group. Results Compared to normal controls, the JME group showed a significant rCBF reduction in bilateral thalami, red nucleus, midbrain, pons, left hippocampus, and in the cerebelli (FDR corrected p < 0.01) whereas rCBF increase in the left superior frontal gyrus (uncorrected p < 0.001 but FDR corrected p > 0.05). Disease duration was negatively correlated with rCBF in bilateral frontal cortices, caudate nuclei, brainstem and cerebellar tonsils. Conclusions Our results suggest that abnormal neural networks in the thalamus, hippocampus, brainstem and cerebellum are associated with JME.     

Focal semiologic and electroencephalographic features in patients with juvenile myoclonic epilepsy

PURPOSE: A few reports have described focal electroencephalographic or clinical features or both of juvenile myoclonic epilepsy (JME), but without video-EEG documentation. We examined focal clinical and EEG features in patients with JME who underwent video-EEG monitoring. METHODS: Twenty-six patients (nine males and 17 females) who had seizures recorded during video-EEG monitoring were included. Age at seizure onset was 0 to 22 years (mean, 12.3 years), and age at monitoring was 12 to 44 years (mean, 26.5 years). In one patient with left parietooccipital epilepsy, primary generalized tonic-clonic seizures developed after resection of the parietal tumor. Two patients had both temporal lobe epilepsy and JME. Videotaped seizures in each patient were analyzed. Interictal and ictal EEG also were analyzed for any focal features. RESULTS: Focal semiologic features were observed in 12 (46%) of 26 patients. Six patients had focal myoclonic seizures, and two had Figure 4 sign: one with version to the left, and another had left version followed by Figure 4 sign, and left arm clonic seizure. Their ictal EEGs were generalized at onset but with a lateralized evolution over the right hemisphere. The patient who had both JME and left parietooccipital epilepsy, right arm clonic seizure, and Figure 4 sign was seen during a generalized EEG seizure. Interictally, one patient had temporal sharp waves, and another had run of spikes in the right frontal region. CONCLUSIONS: Fourteen (54%) of 26 patients with JME exhibited focal semiologic or electroencephalographic features or both. Video-EEG was essential in reaching a correct diagnosis and choosing an appropriate antiepileptic drug regimen.     

Occurrence of only myoclonic jerks in juvenile myoclonic epilepsy

Objectives - The clinical data on individuals who were diagnosed to have juvenile myoclonic epilepsy (JME) on the basis of myoclonic jerks alone has been analysed. The points in favour and against individuals with only myoclonic jerks being classified as "affected" for research on JME are discussed.
Materials and methods - We studied 15 persons diagnosed with JME on the basis of only myoclonic jerks in a series of 161 patients with JME and their relatives. Detailed information on the seizure types in JME patients and their family members was collected. All affected individuals were examined by one person and had at least one conventional scalp EEG. CT/MRI of the brain was done as and when indicated.
Results - Nine of these were probands while 6 were the relatives of JME patients. The EEG was abnormal in 8 of 9 probands and 1 of 6 relatives with only myoclonic jerks. All the 9 probands and 2 relatives with only myoclonic jerks were treated with anti-epileptic drugs. Three of the 4 relatives had spontaneous remission of jerks after variable intervals. Four of 15 persons with only myoclonic jerks had a first degree relative with definite JME.
Conclusions - It appears that persons with myoclonic jerks alone may represent a benign subgroup of JME that may be genetically distinct from classic JME and the jerks may even spontaneously remit in a few cases. It is suggested that those persons with only myoclonic jerks and a first degree relationship with a definite diagnosis of JME can be classified as "affected" for inclusion into molecular studies, till molecular tools are available to settle the issue of phenotypic variations in hereditary neurological disorders like JME.     

Epidemiology of juvenile myoclonic epilepsy

Juvenile myoclonic epilepsy (JME) is a widely recognized presumed genetic, electroclinical idiopathic generalized epilepsy syndrome. The prevalence of JME in large cohorts has been estimated to be 5% to 10% of all epilepsies and around 18% of idiopathic generalized epilepsies but may be lower in some settings. There is a marked female predominance. However, some of the basic epidemiology of JME is not well known, possibly because the syndrome is not sharply defined. A questionnaire study about the diagnostic criteria for JME suggests that diagnosis of JME can be made with the history of myoclonus plus a single generalized tonic-clonic seizure plus generalized fast spike–waves or polyspike–waves on the EEG. However, until these diagnostic criteria are fully accepted, the detailed epidemiology of JME will remain imprecise.This article is part of a supplemental special issue entitled Juvenile Myoclonic Epilepsy: What is it Really?     

Management of juvenile myoclonic epilepsy

Juvenile myoclonic epilepsy (JME) is a common form of epilepsy and a fairly lifelong disorder that may significantly lower a patient's expectations and potential for a full life. Luckily, it is also a highly treatable disorder, and up to 85% of patients with JME will enjoy satisfactory seizure control. Among anticonvulsants, valproate still stands out as the most efficacious drug, but may be poorly tolerated by some, and is considered unsafe for the fetuses of pregnant women. Alternatives have emerged in recent years, especially levetiracetam, but also topiramate, zonisamide or lamotrigine. In some cases, combination therapy may be useful or even required. One should not forget the potential aggravation induced not only by some commonly used anticonvulsants, especially carbamazepine and oxcarbazepine, but also, in some patients, by lamotrigine. In special settings, older drugs like benzodiazepines and barbiturates may be useful. But the management of JME should also include intervention in lifestyle, with strict avoidance of sleep deprivation and the management of copathologies, including the cognitive and psychiatric problems that are often encountered. With adequate management, there will only remain a small proportion of patients with uncontrolled epilepsy and all of its related problems. Juvenile myoclonic epilepsy is a condition in which the clinician has a fair chance of significantly helping the patient with medication and counseling.This article is part of a supplemental special issue entitled Juvenile Myoclonic Epilepsy: What is it Really?     

Neurophysiology of juvenile myoclonic epilepsy

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.This article is part of a supplemental special issue entitled Juvenile Myoclonic Epilepsy: What is it Really?     

Treatment of juvenile myoclonic epilepsy

Drug treatment of juvenile myoclonic epilepsy (JME) is mainly based on clinical experience and prospective and retrospective studies, with little evidence from randomized clinical trials. There are almost no head-to-head comparisons between old and new antiepileptic drugs (AEDs). Valproate is the drug of the first choice in men with JME. In women, lamotrigine (LTG) should be preferred regarding teratogenicity and side effects of valproate. Levetiracetam (LEV) is also effective. Recent data suggest that it may soon be used as first line treatment. Some AEDs can aggravate JME. In addition to AEDs, nonpharmacological treatments are important in JME. JME usually requires lifelong treatment because seizures nearly always return after withdrawal of therapy.