Prevalence, nature, and severity of the psychiatric comorbidities and their impact on quality of life in adolescents with Juvenile myoclonic epilepsy.

INTRODUCTION: Adults with Juvenile myoclonic epilepsy (JME) are at increased risk for psychiatric comorbidities, personality traits, and abnormality in executive function. But studies on adolescents and their impact on quality of life are scarce in the literature. MATERIALS AND METHODS: This cross-sectional study was performed between August 2019 and October 2022 to compare the prevalence of psychiatric comorbidities in adolescents with JME and age and gender-matched healthy controls. After completing DSM-5 Structured Clinical Interview (SCID-5) initially in all patients, we measured the severity of individual psychiatric problems like anxiety, depression, and somatic symptoms by using an appropriate psychometric scale. We also measured both groups' intelligence quotient (IQ), executive function, and quality of life. RESULTS: One hundred patients with JME (14.3 ± 2.5 years, 48 boys) and 100 controls were enrolled. Psychiatric disorders were observed in 46% of JME and 6% of controls (p < 0.01). Psychiatric comorbidities noted in the patients with JME were: somatic symptom and related disorders(n = 14), anxiety (n = 13), adjustment disorders (n = 12), depression (n = 11), oppositional defiant disorder (n = 6), conduct disorder (n = 5), anorexia nervosa (n = 3), narcissistic (n = 3), histrionic (n = 1), substance-related disorder (n = 1), borderline (n = 2) and antisocial personality disorder (n = 2). The prevalence of depressive disorders, anxiety disorders, adjustment disorders, somatic symptoms, related disorders, and any personality disorder was significantly more in the JME group (p < 0.01 for all). Female gender, higher Epilepsy Stigma Scale score, and lower Epilepsy Outcome Expectancy Scale were significantly associated with depressive disorders (p = 0.04, 0.03, 0.03 respectively). Similarly, for anxiety, only female gender and lower Epilepsy Outcome Expectancy Scale were significant associated factors (p = 0.03, 0.02 respectively). CONCLUSIONS: Psychiatric disorders like anxiety, depression, and personality disorders are more frequent in adolescents with JME than in controls.

Prevalence of headache disorders in patients living with epilepsy in rural region in western part of India.

BACKGROUND AND AIMS: Headache disorders cause significant distress in patients living with epilepsy (PWE) and are underreported. This study aimed to evaluate the prevalence of various forms of headache in PWE. METHODOLOGY: Two hundred and three PWE were evaluated for the presence and type of headache as per the International Classification of Headache Disorders (ICHD)-3 classification criteria. The severity was graded using the Headache Under Response to Treatment (HURT)-3. A subgroup analysis of headache and epilepsy was done. The World Health Organization-5 (WHO-5) questionnaire was used to assess mental well-being. The Mini International Neuropsychiatric Interview (MINI) questionnaire was used to study the psychiatric comorbidities, which were classified according to the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV classification. RESULTS: The prevalence of headaches in PWE was 45% [60% females]. Female gender and younger age were significantly associated with migraine (p values of 0.03 and 0.05, respectively). Migraine was the most common type of headache (71%), followed by tension-type headache (TTH) (23%) in PWE. The headache was inter-ictal in 80% of PWE. In PWE with migraine, both juvenile myoclonic epilepsy (JME) and frontal lobe epilepsy (FLE) had a 28% prevalence. In PWE with TTH, FLE was more common (43%). The prevalence of migralepsy in PWE was 4% [n = 4; 2 each of occipital lobe epilepsy (OLE) and idiopathic generalized epilepsy (IGE)]. A psychiatric illness was more than two times more likely in PWE with headache (n = 34; 37%) as compared to PWE without headache (n = 19; 17%). Patients living with epilepsy with headaches and psychiatric comorbidities had significantly lower mental well-being (p = 0.001). Forty five percent of PWE with headaches required acute management, and 35% required prophylactic management for their headache. CONCLUSION: Headache is frequently ignored in PWE. It can affect their mental health and quality of life. Evaluation and management of headache in PWE is very important.

Trait impulsivity correlates with active myoclonic seizures in genetic generalized epilepsy.

BACKGROUND: Juvenile myoclonic epilepsy (JME) is a common subtype of genetic generalized epilepsy (GGE) arising in adolescence and is often associated with executive function (EF) deficits. Some EF components like response inhibition have been extensively evaluated in JME, but few studies have focused upon trait impulsivity or compared between GGE subtypes. The aim of the present study was to compare the association of trait impulsivity in JME with other GGE subtypes. METHODS: Patients with GGE aged between 14 and 40 years (n = 137) were divided into those with JME (n = 92) and those with other GGEs (n = 45: 8 childhood absence epilepsy (CAE), 22 juvenile absence epilepsy (JAE), and 15 epilepsy with generalized tonic-clonic seizures only (EGTCS)). The study participants were recruited through medical records of the general population of Buskerud County and the neighboring municipalities, covering 477,000 people or 9.1% of Norway's total population. All participants underwent a clinical interview including the Barratt Impulsiveness Scale (BIS), an established measure of trait impulsivity. We controlled for other potential predictors of BIS score using analysis of covariance (ANCOVA). RESULTS: There were no differences between JME and other types of GGE for BIS scores, but the presence of myoclonic seizures within the last year, irrespective of GGE subtype, was independently associated with significantly increased behavioral impulsivity. CONCLUSIONS: This study demonstrates that trait impulsivity in GGE is most strongly related to the recent occurrence of myoclonic seizures rather than GGE subtype.

The association between temperament features and childhood traumas in patients with juvenile myoclonic epilepsy

Background/aim: Epilepsy is a common chronic neurological problem that impairs daily activities, functionality, and quality of life. Childhood traumas (CTs) are known to be critical factors in the onset or development of many psychiatric and medical disorders. They also play a critical role in the development of temperament and personality. This study aimed to investigate the association between CTs and common temperament patterns and features seen in epilepsy patients. Materials and methods: The study included 38 patients who were diagnosed with juvenile myoclonic epilepsy (JME) and volunteered to participate in the study. In addition to the sociodemographic form and questions on disease features, Structured Clinical Interview for DSM-IV Axis I Disorders, Temperament Evaluation of Memphis, Pisa, Paris and San Diego Questionnaire (TEMPS-A), Childhood Trauma Questionnaire (CTQ), Beck Depression Inventory (BDI), and Beck Anxiety Inventory (BAI) were administered to all participants. In the present study, a cut-off value of 35 was used for the CTQ scale. The patients with CTQ scores lower than 35 (50%, n = 19, Group 1) and the patients with CTQ scores above 35 (50%, n = 19, Group 2) were compared. Results: The comparison of TEMPS-A and its subscale scores in the JME patients in the groups with CTQ scores above or below a cut-off value detected significant differences between the groups in depressive and irritable temperament scores. The mean BDI scores were also different between the two groups. Furthermore, a significant positive correlation was detected between the disease duration, anxiety, and depression scores in the JME patients. A significant relationship was detected between the emotional neglect subscale score of the JME patients and the BDI scores. A significant positive correlation was found between the total disease duration, BDI, and BAI. Significant moderate-level relationships were found between the BDI score and irritable, depressive, cyclothymic, and anxious temperaments and between the BAI score and irritable, depressive, cyclothymic, and anxious temperaments. Conclusion: Several temperamental features of JME patients are related to CTs. More depressive symptoms are seen in JME patients with higher disease durations.

Psychosocial complications in juvenile myoclonic epilepsy.

Juvenile myoclonic epilepsy (JME) constitutes about 10% of all epilepsies. Because of executive dysfunction, people with JME may be prone to impulsivity and risk-taking behavior. Our aim was to investigate whether psychosocial issues associated with impulsivity are more prominent in people with JME than in those with other types of genetic generalized epilepsy (GGE). Patients with GGE were recruited retrospectively through the Drammen Hospital records in Buskerud County, Norway, 1999-2013. They were invited to a semi-structured interview, either at the hospital or at home. Ninety-two patients with JME and 45 with other types of GGE were interviewed. Variables were evaluated in terms of their association with JME versus other GGE diagnosis using a logistic regression model. Juvenile myoclonic epilepsy was associated with use of illicit recreational drugs and police charges, although with borderline significance (odds ratio [OR] 3.4, p = 0.087 and OR 4.2, p = 0.095); JME was also associated with being examined for attention-deficit hyperactivity disorder (ADHD) in females (OR 15.5, p = 0.015), a biological parent with challenges like addiction or violent behavior (OR 3.5, p = 0.032), and use of levetiracetam (OR 5.1, p = 0.014). After controlling for group differences, we found psychosocial complications to be associated with JME, potentially influencing the lives of the individuals and their families to a greater extent than the seizures per se. Thus, JME should be considered a disorder of the brain in a broader sense than a condition with seizures only.

Impact of sleep disorders on the risk of seizure recurrence in juvenile myoclonic epilepsy.

OBJECTIVE: The aim of this study was to investigate the presence of sleep disturbances in patients with juvenile myoclonic epilepsy (JME) using sleep questionnaires. Further, we tried to evaluate whether alterations in sleep quality may influence the clinical expression of JME. METHODS: Sixty-two patients with JME treated with levetiracetam were included. Demographic and clinical variables were collected. Moreover, all patients submitted the Pittsburgh Sleep Quality index (PSQI) and the Epworth Sleepiness Scale (ESS) in order to respectively assess sleep quality during the last month and daytime sleepiness. All patients were followed up for a 6-month period and divided in two groups: seizure-free (Group 1) and seizure recurrence (Group 2). The PSQI and ESS scores were synthesized as binary variables <5/≥5 and <10/≥10, respectively. A comprehensive analysis was performed to evaluate the independent effect of the sleep quality and daytime sleepiness on the risk of having seizures during the follow-up. RESULTS: Both reduced sleep quality during the last month and daytime sleepiness were associated with an increased risk of suffering from seizures during the follow-up period. In fact, a PSQI score<5 or an ESS score<10 resulted significantly associated with the absence of seizure recurrence (p<0.004 and p<0.001, respectively). Increasing age had a significantly protective effect in the risk of seizure relapse. CONCLUSIONS: Our findings show that reduced sleep quality and daytime sleepiness in patients with JME increase the risk of seizure occurrence in spite of an appropriate pharmacological treatment. This negative effect seems to be more relevant in younger patients. Sleep disorders and their specific correction should be taken into consideration for the management of patients with JME.

Juvenile myoclonic epilepsy and sleep.

Juvenile myoclonic epilepsy (JME) is a sleep-related epilepsy syndrome, and only a few studies have addressed the relationship between JME and sleep disorders. In this review, the sleep characteristics of patients with JME were summarized based on the features of circadian rhythm, the possible cause of the early morning seizures, the common subjective and objective sleep disorders, the alterations in sleep architecture, and the effect of sleep deprivation and sodium valproate (VPA). The aims of this study were to summarize the interaction between JME and sleep, to reveal JME sleep characteristics, to encourage clinicians to focus on JME and sleep, to heighten the positive diagnosis rate, to guide the treatment, to improve the prognosis, and to enhance the daily life quality of patients with JME. At the same time, this study aimed to present existing controversies, in order to necessitate further studies.

Prevalence and clinical characteristics of headache in juvenile myoclonic epilepsy: experience from a tertiary epilepsy center.

The comorbidity of headache and epilepsy is often seen in neurological practice. The objective of this study was to assess the prevalence, types of, and risk factors for headache in juvenile myoclonic epilepsy (JME). We assessed a total of 200 patients and 100 healthy controls in our study. Headache was classified in participants using a self-administered questionnaire. Demographical, clinical features and headache characteristics were recorded. Seizure and headache temporal profiles were noted. Headache was present in 111 (56%) patients and 50 (50%) healthy participants. From these patients, 47 (42.3%) JME patients had migraine [30 (27%) migraine without aura (MO), 17 (15.3%) migraine with aura (MA)], 52 (46.8%) had tension type headache (TTH), 4 (3.6%) had both migraine and TTH, and 8 (7.2%) had other non-primary headaches. In the healthy control group, migraine was detected in 16 (32%) subjects, TTH in 33 (66%), both migraine and TTH in 1 (2%) subject. A positive migraine family history and symptom relief with sleep were more frequent in JME patients (p = 0.01). Headache was classified as inter-ictal in 82 (79.6%) patients and peri-ictal in 21 (20.4%) patients. In conclusion, the present study revealed that headache frequency was not significantly different between JME patients and healthy controls (p > 0.05). However, migraine frequency was higher in JME patients than healthy controls. Some migraine and TTH characteristics were different in between groups. We suggest that our results support both genetic relationship and shared underlying hypothetical pathopysiological mechanisms between JME and headache, especially migraine.

Ictal Cardiorespiratory Arrest Associated with Status Epilepticus in Panayiotopoulos Syndrome.

A healthy 10-year-old boy vomited during sleep and later complained of abdominal pain; he became drowsy and uncommunicative. At the nearby hospital E.R., he deteriorated rapidly, and his respiratory movements were absent with cardiac arrest. He was immediately resuscitated. Brain MRI showed no abnormalities. EEG revealed an abnormal pattern with recurrent multifocal epileptiform activity over the bilateral occipital and frontal regions during sleep. Based on the clinical/radiological findings we diagnosed Panayiotopoulos syndrome (PS), a benign form of early-onset pediatric epilepsy characterized by autonomic symptoms. Lifethreating cardiopulmonary arrest is rare in PS, but long seizure duration of PS may associate with apnea and bradycardia.

Epilepsy in fragile-X-syndrome mimicking panayiotopoulos syndrome: Description of three patients.

Fragile-X-syndrome is the most common cause of inherited intellectual disability. Epilepsy is reported to occur in 10-20% of individuals with Fragile-X-syndrome. A frequent seizure/electroencephalogram (EEG) pattern resembles that of benign rolandic epilepsy. We describe the clinical features, EEG findings and evolution in three patients affected by Fragile-X-syndrome and epilepsy mimicking Panayiotopoulos syndrome. Age at seizure onset was between 4 and about 7 years. Seizures pattern comprised a constellation of autonomic symptoms with unilateral deviation of the eyes and ictal syncope. Duration of the seizures could be brief or lengthy. Interictal EEGs revealed functional multifocal abnormalities. The evolution was benign in all patients with seizures remission before the age of 14. This observation expands the spectrum of benign epileptic phenotypes present in Fragile-X-syndrome and may be quite helpful in guiding anticonvulsant management and counseling families as to expectations regarding seizure remission.

Microstructural white matter changes and their relation to neuropsychological deficits in patients with juvenile myoclonic epilepsy.

OBJECTIVE: Juvenile myoclonic epilepsy (JME) is the most common idiopathic generalized epilepsy syndrome. Neuropsychological, electrophysiological, and neuroimaging studies have led to the hypothesis that JME is related to dysfunction of frontal brain regions and mainly frontal thalamocortical networks. METHODS: We investigated possible microstructural white matter abnormalities of 20 patients with JME as compared with 20 healthy control subjects using diffusion tensor imaging (DTI). We analyzed whole-head DTI scans without an a-priori hypothesis using Tract-Based Spatial Statistics (TBSS). To analyze associated gray matter changes, we applied voxel-based morphometry (VBM) to a 3D T1 magnetization prepared rapid gradient echo (MPRAGE) sequence. Neuropsychological testing and personality trait tests were performed to bridge the gap between structure and function. RESULTS: In patients, DTI revealed microstructural white matter changes in anterior parts of the Corpus callosum, anterior parts of the cingulate gyrus, and widespread frontal white matter bilaterally as well as in anterior parts of the right thalamus, which were not accompanied by gray matter changes in VBM. Microstructural changes in the cingulum correlated with personality traits. Neuropsychological test results showed impaired attention and executive functions and reduced short-term memory in the patient group. Also, there was a tendency toward alexithymia and significantly higher scores on depression. SIGNIFICANCE: The present study results showed neuropsychological deficits including frontal lobe cognitive performance and a tendency toward alexithymia as well as accompanying microstructural neuroimaging changes in patients with JME, which all point to alterations in frontal brain regions and frontal thalamocortical networks in these patients.

Comparing sleep profiles between patients with juvenile myoclonic epilepsy and symptomatic partial epilepsy: Sleep questionnaire-based study.

OBJECTIVES: Patients with epilepsy commonly report excessive daytime sleepiness and daytime fatigue, which may be attributed to the direct effect of seizures, a side effect of antiepileptic drugs or a combination of the two. The aim of the study was to compare sleep profiles in patients with juvenile myoclonic epilepsy (JME) and symptomatic partial epilepsy (PE) in drug naïve and treated patients using standardized sleep questionnaires. METHODS: Three study groups: - 1) juvenile myoclonic epilepsy (N=40) [drug naïve (N=20); On sodium valproate (SVA) (N=20)]; 2) symptomatic partial epilepsy (N=40) [drug naïve (N=20); On carbamazepine (CBZ) (N=20)]; 3) healthy controls (N=40) completed 3 standardized sleep questionnaires - Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index, and NIMHANS Comprehensive Sleep Disorders Questionnaire. Scores were compared using t-test and Chi-squared tests (P≤0.005). RESULTS: The mean PSQI scores as well as the proportion of subjects with abnormal PSQI scores were higher in patients with JME and PE compared to controls. Although the mean ESS scores were comparable between patients with epilepsy and controls, the percentage of patients with partial epilepsy having abnormal ESS scores was higher. No significant differences were present between drug naïve and treatment monotherapy groups. Excessive daytime somnolence was reported more often by patients with JME compared to patients with partial epilepsy and controls. CONCLUSION: This study found that patients with epilepsy have a higher prevalence of poor sleep quality compared to controls. Moreover, a significantly higher percentage of patients with partial epilepsy had higher ESS scores compared to healthy controls. However, there was no difference between ESS and PSQI scores between drug naïve and treated patients with JME or PE. SIGNIFICANCE: Poor sleep quality is more prevalent in patients with epilepsy irrespective of the use of antiepileptic medications. Excessive daytime somnolence is more commonly seen in patients with partial epilepsy when compared to the general population.

Is there a creative functional paradoxical facilitation in juvenile myoclonic epilepsy?

OBJECTIVE: In patients with juvenile myoclonic epilepsy (JME), a specific personality profile suggestive of frontal lobe dysfunctions has been described. From a neurobiological point of view, the frontal lobe seems to be crucial for creative processes, although the exact role remains unclear. The theory of creative paradoxical functional facilitation (PFF) assumes that disinhibited frontal lobe function can enhance creative abilities. The aim of the current study was to explore our hypothesis that JME is associated with higher artistic creativity based on the theory of PFF. METHODS: We assessed 25 patients with JME aged 18 to 40years in regard to neuropsychological creativity testing. Results were compared with those of 25 age-, sex-, and level of education-matched healthy control subjects (HC) and patients with temporal lobe epilepsy (TLE). Creative abilities were assessed using two validated and standardized tests: 1) nonverbal: the incomplete figure task of Torrance Test of Creative Thinking and 2) verbal: verbal creativity test. Additionally, a basic assessment of fluid intelligence (test for problem solving) and frontal lobe function (trail-making test) was administered to all participants. RESULTS: Verbal creativity was impaired in both groups with epilepsy compared with that in HC (specific score: JME vs. HC, p=0.008; TLE vs. HC, p=0.003). In regard to nonverbal creative abilities, both groups with epilepsy exhibited fair performance. Level of fluid intelligence was even in all groups (p=0.433). Only patients with JME showed deficits in the frontal lobe test of psychomotor speed (time in seconds: 67.7 JME vs. 54.6 TLE vs. 52.8 HC; p=0.045). CONCLUSIONS: Overall, our study did not reveal increased creativity in JME. The current findings provide insights into creative abilities in two different epilepsy syndromes. Knowledge on specific neuropsychological strengths or deficits in patients with epilepsy may be useful for treatment or counseling.

Psychiatric comorbidities in patients from seven families with autosomal dominant cortical tremor, myoclonus, and epilepsy.

OBJECTIVE: The objective of this report was to assess the psychiatric comorbidity in a group of patients affected by autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME). METHODS: Reliable and validated psychodiagnostic scales including the BDI (Beck Depression Inventory), STAI-Y1 and 2 (State-Trait Anxiety Inventory - Y; 1 and 2), MMPI-2 (Minnesota Multiphasic Personality Inventory - 2), and QoLIE-31 (Quality of Life in Epilepsy Inventory - 31) were administered to 20 patients with ADCME, 20 patients with juvenile myoclonic epilepsy (JME), and 20 healthy controls. RESULTS: There was a higher prevalence of mood disorders in patients with ADCME compared to patients with JME and healthy controls, particularly depression (p=0.035 and p=0.017, respectively) and state anxiety (p=0.024 and p=0.019, respectively). Trait anxiety was not different from JME (p=0.102) but higher than healthy controls (p=0.017). The myoclonus score positively correlated with both state (rho: 0.58, p=0.042) and trait anxiety (rho: 0.65, p=0.011). These psychiatric features were also often associated with pathological traits of personality: paranoid (OR: 25.7, p=0.003), psychasthenia (OR: 7.0, p=0.023), schizophrenia (OR: 8.5, p=0.011), and hypomania (OR: 5.5, p=0.022). Finally, in patients with ADCME, decreased quality of life correlated with these psychiatric symptoms. SIGNIFICANCE: Patients with ADCME show a significant psychiatric burden that impairs their quality of life. A comprehensive psychiatric evaluation should be offered at the time of diagnosis to detect these comorbidities and to treat them.

Psychiatric disorders among 165 patients with juvenile myoclonic epilepsy in India and association with clinical and sociodemographic variables.

OBJECTIVE: The current study evaluated the association between clinical variables and psychiatric disorders (PDs) in patients with juvenile myoclonic epilepsy (JME). METHODS: Consecutive patients with JME who had at least two years of regular follow-up from May 2011 to April 2014 formed the study population. The association between clinical and sociodemographic data with psychiatric evaluation on structured clinical interview and quality of life in epilepsy - 31 (QOLIE-31) was evaluated using logistic regression analysis. RESULTS: Out of 165 patients in the current study, 77 (46.6%) patients were diagnosed with PDs; while 50 were categorized to having anxiety disorders, 27 patients had depressive disorders. The mean age of the study population was 25.35 ± 7.6 years with 37.52% women. Patients with PDs had lower overall QOLIE score (55.84 ± 13.07 vs 68.70 ± 11.23, p<0.001) and lower social function score (80.95 ± 19.22 vs 91.09 ± 14.74, p<0.001). Being married was the strongest predictor of depressive disorders (ß=8.59; 95% CI, 1.44-51.28; p=0.018); whereas, lower emotional well-being (ß=0.942; 95% CI, 0.907-0.978; p=0.002) was the only variable associated with anxiety disorders. Patients with depressive disorders had longer duration of PDs (11.85 ± 8.68 years vs 7.75 ± 6.70 years, p=0.039), and a majority of them were married (66.7% vs 26.0%, p=0.001). Patients with depressive disorders scored low on emotional well-being (50.81 ± 14.62 vs 61.02 ± 13.05, p=0.002), energy levels (52.78 ± 11.71 vs 62.80 ± 10.84, p<0.001), and social function (70.96 ± 20.69 vs 86.34 ± 16.16, p=0.001). Depressive disorders were more prevalent among married patients above 35 years of age (5.2% vs 36.8%, p=0.042). SIGNIFICANCE: Nearly half of the patients with JME had coexisting PDs. The psychological profile of anxiety disorders was different from depressive disorders in patients with JME. Depressive disorders were more prevalent among older patients with JME, and marriage was strongly associated with depressive disorders.

Juvenile myoclonic epilepsy and narcolepsy: A series of three cases.

OBJECTIVE: This paper sets out to demonstrate the coexistence of juvenile myoclonic epilepsy (JME) and narcolepsy that raises the possibility of a shared genetic predisposition to both conditions. METHODS: The electronic medical records (EMRs) were searched for narcolepsy and JME over 10years. RESULTS: We identified three young adult women diagnosed with JME in their teenage years, with myoclonic, generalized tonic-clonic, and absence seizure semiologies, along with psychiatric comorbidity, well managed on lamotrigine and/or levetiracetam. Our patients were also found to have disturbed sleep preceding the diagnosis of JME by many years, including excessive daytime sleepiness (EDS), fragmented nocturnal sleep, hypnagogic vivid hallucinations, and REM behavior disorder along with daytime cataplexy. They were ultimately diagnosed with coexisting narcolepsy, confirmed by sleep studies and multiple sleep latency testing, along with positive genetic testing for HLA-DQB1*0602 in all three patients. Stimulants, selective serotonin receptor inhibitors, and/or sodium oxybate were used to successfully treat their narcolepsy. SIGNIFICANCE: The coexistence of JME and narcolepsy has not been well recognized and may be clinically relevant. In addition, it raises the possibility of a shared genetic predisposition to both conditions.

Mixed myoclonic-absence status epilepticus in juvenile myoclonic epilepsy.

Myoclonic status epilepticus or mixed absence-myoclonic status is uncommon in juvenile myoclonic epilepsy (JME), often precipitated by sleep deprivation, withdrawal of medication, or inadequate antiepileptic drugs (Thomas et al., 2006; Crespel et al., 2013). Such episodes respond well to benzodiazepines or valproate (Crespel et al., 2013). We present the video-EEG of a 24-year-old woman with JME and bipolar disorder. She had a confusional state five days after withdrawal of clonazepam (14 mg/d) and introduction of oxazepam (200 mg/d), followed by catatonic stupor with subtle myoclonus of the face and the arms. The EEG showed absence status (figures 1, 2), which stopped after IV injection of clonazepam (1 mg) (figure 3). Consciousness returned to normal [Published with video sequence and figures (1)].

Executive functions and psychiatric symptoms in drug-refractory juvenile myoclonic epilepsy.

PURPOSE: The pattern of executive dysfunction reported in juvenile myoclonic epilepsy (JME) resembles that of patients with cluster B personality disorders. This study examined whether executive dysfunction and maladaptive behavior reported in patients with JME are related. METHOD: Sixty patients with drug-refractory JME were administered tests of intellect, memory, and executive dysfunction. Anxiety, depression, personality traits, impact of epilepsy, and perceived cognitive effects of antiepileptic drugs were measured. RESULTS: Half of the cohort exhibited moderate to severe anxiety symptoms. The patients performed most poorly on naming ability and inhibition switching. Duration of epilepsy exacerbated poor performance on inhibition switching. Females presented with pathological scores for neurotic and introvert traits and males for introvert traits. Abnormal personality traits and psychiatric disorders were associated with worse intellectual and executive functioning. People with extreme Eysenck Personality Scale - Brief Version (EPQ-BV) scores demonstrated the greatest level of executive impairment. Furthermore, the same degree of dysfunction was not seen in any individual with unremarkable EPQ-BV scores. CONCLUSION: This study indicates that specific patterns of executive dysfunction are related to maladaptive behavior in JME. Distinct behavioral patterns may be used to identify functional and anatomical differences between people with JME and for stratification to enable gene discovery.

A comprehensive neuropsychological description of cognition in drug-refractory juvenile myoclonic epilepsy.

The study of juvenile myoclonic epilepsy is important in that: it is common and heterogeneous; the etiology is unknown; and patients report broad cognitive problems. We utilized a broad battery of neuropsychometric tests to assess the following: intellectual function, memory, language and naming, executive function, the impact of epilepsy, and antiepilepsy drug side effects. Sixty people with drug-refractory JME were interviewed, and performance was profoundly impaired across the range of tests. Impairments included the following: full-scale IQ (89, p<0.001); processing speed (86, p<0.001); visual memory (immediate and delayed) more affected than verbal memory; verbal fluency and inhibition (p<0.001); and self-reported drug side effects (p<0.001). Eighty-three percent of patients exhibited frank executive dysfunction, which was moderate to severe in 66%. Regression modeling confirmed that an early age at onset and the need for polytherapy were associated with poorer cognitive outcomes. This study confirms previous reports of executive dysfunction in a larger cohort and with greater statistical rigor. We also identified a high prevalence of neurotoxicity symptoms such as fatigue and poorer functioning across intellectual and memory tests than had previously been reported.

Impact of family support on psychiatric disorders and seizure control in patients with juvenile myoclonic epilepsy.

OBJECTIVE: Psychiatric disorders (PDs) are frequently observed in patients with juvenile myoclonic epilepsy (JME). In this study, we aimed to assess factors associated with PDs in patients with JME. METHODS: Retrospective analysis of data of 90 consecutive patients with JME was performed. Assessment of DSM-IV Axis I clinical disorders was done using Structured Clinical Interview for Axis I. Diagnosis of PDs is made when the score exceeds the threshold provided by the DSM-IV. We also applied the Global Assessment of Functioning (GAF) scale which is part of the multiaxial evaluation of the DSM-IV (Axis-V). Using seizure frequency score at presentation, we classified subjects into controlled and uncontrolled groups. RESULTS: In the current cohort, 29 (32.2%) patients were diagnosed with PDs. Fewer patients with PDs had family support (48.3% vs. 83.6%; p=0.001). Lifetime prevalence of PDs was higher among patients with current PDs (96.6% vs. 18.0%; p<0.0001). Subthreshold illness was not different between the groups (17.2% vs. 27.9%; p=0.204). Mean GAF was higher in patients without PDs than in patients with PDs (89.19±6.92 vs. 64.22±9.76; p<0.0001). Patients with PDs had lower seizure control (7.8% vs. 73.1%; p<0.0001) compared with patients without PDs. Logistic regression analysis for factors associated with diagnosis of PDs revealed that none of the factors significantly affected the odds of seizure control. Patients with lack of family support had poor seizure control (0% vs. 36.9%; p<0.0001); 51.7% of patients with JME with PDs reported lack of family support. Patients with family support had lower lifetime prevalence of PDs (30.8% vs. 76.0%; p<0.0001), whereas patients with JME without family support had lower levels of education (8.0% vs. 35.4%; p=0.009). CONCLUSION: Lack of family support is associated with poor seizure control and higher incidence of PDs in patients with JME. Lack of family support increases neither the odds of PDs nor seizure control.