Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS)

BackgroundEpileptic seizures in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) are heterogeneous with no pathognomonic features. We reviewed epilepsy characteristics and clinical outcome exclusively in a pediatric population.MethodsTwenty-two children and adolescents (13 males) with confirmed mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes due to mitochondrial DNA A3243G mutation and epilepsy were recruited. Clinical data including seizure semiology, treatment response, neuroimaging findings, and electroencephalography were analyzed. We also examined the effect of the age at seizure onset and initial symptoms on the clinical variables.ResultsSeizure semiology and electroencephalography abnormalities showed no syndrome-specific findings. Focal seizures occurred in 21 of 22 subjects (95.5%), whereas generalized seizures developed in seven of 22 subjects (31.8%). Twenty of 22 subjects (90.9%) achieved partial to complete reduction of clinical seizures for more than one year with a combination of more than two antiepileptic drugs. The subgroup with earlier seizure onset presented significantly earlier and showed significantly higher rates of drug-resistant epilepsy compared with the late onset group, although there were no significant differences in the initial symptoms. The subjects with severe epileptic conditions tended to have more severe clinical dysfunction and more severe organ involvement.ConclusionsBoth focal and generalized seizures occurred in patients with MELAS. Epilepsy in this population is drug resistant, but a certain degree of clinical seizure reduction was achievable with antiepileptic drugs, with more favorable outcomes than historically expected. Close observation and active epilepsy treatment of individuals with MELAS episodes and earlier seizure onset might improve the prognosis.     

Fever as a seizure precipitant factor in Panayiotopoulos syndrome: a clinical and genetic study

PurposeTo examine fever as a precipitating factor for focal seizures in patients with Panayiotopoulos syndrome (PS) and evaluate the role of SCN1A in PS patients with seizures triggered by fever.MethodsFrom January 2000 to June 2008, we identified patients referred for seizures who fulfilled the criteria of PS. Patients were divided into two groups, according to the presence (group A) or the absence (group B) of seizures triggered by fever. Electroclinical features of the two groups were compared. In addition, an analysis of SCN1A in patients of group A was performed.ResultsThirty patients fulfilled the inclusion criteria. Eleven patients (36%) had at least one focal autonomic seizure triggered by fever (group A). In group A, 7/11 patients (63.5%) had the first focal autonomic seizure during a febrile illness. Two of these 7 patients were misdiagnosed at the onset of PS. The median age at the onset of PS was slightly lower in group A than in group B (p = .050). Moreover, patients in group A more frequently had a positive familial history of febrile seizures (FS) (p = .047). No mutations of SCN1A were found in any of the 10 patients screened.ConclusionFever is a common trigger for focal autonomic seizures in PS. Knowing that an autonomic manifestation during fever can be an epileptic seizure could facilitate diagnosis and prevent unnecessary investigations and erroneous treatments. Moreover, our data show that SCN1A gene does not contribute significantly to susceptibility to autonomic seizures during fever in patients with PS.     

Next generation sequencing in children with unexplained epilepsy: A retrospective cohort study

ObjectiveTo evaluate the clinical utility of next-generation sequencing (NGS) in unexplained pediatric epilepsy, and to identify the potential predictors associated with Mendelian genetic causes.MethodsTwo hundred and ten children with unexplained epilepsy, who underwent NGS test were included. We analyzed the demographic, clinical and genetic characteristics, and executed a Logistic regression analysis for identifying predictors for Mendelian genetic causes. Patients were classified as either with isolated epilepsy or syndromic epilepsy with concurrent neurodevelopmental phenotypes.ResultsThe overall diagnostic yield was 29.0% (61/210). A total of 68 variants spanning 39 genes were identified in 58 patients (27.6%, 58/210) from exome sequencing based testing. Of the 68 variants, 33 were novel ones. Besides, STAR and CNTN2 were identified to be a candidate gene for epilepsy. Patients with syndromic epilepsy had a much higher diagnostic yield than that of isolated epilepsy (53/135, 39.3% vs. 8/75, 10.7%, p = 0.000). The odds ratio of detecting genetic cause was 3.939 (95% CI 1.369–11.332) for syndromic epilepsy without epileptic encephalopathy (EE), 5.814 (95% CI 2.208–15.306) for EE, 2.958 (95% CI 1.093–8.000) for patients with seizure onset <12 months, and 2.932 (95%CI 1.414–6.080) for female. Of the 210 patients, 78.4% of patients (145/185) had at least a 50% reduction in seizure frequency and 58.9% (109/185) reached seizure freedom. There was no difference between seizure prognosis and diagnostic outcomes.SignificanceNGS is effective for Mendelian genetic etiological diagnosis for unexplained pediatric epilepsy. Female patients with syndromic epilepsy with onset within the first year of life are most likely to yield a positive test result.     

Epileptic spasms and partial seizures as a single ictal event

PURPOSE: To investigate the phenomenon of epileptic spasms (ESs) associated with other seizure types in a single ictal event and to study the predictive value of this phenomenon regarding etiology and prognosis. METHODS: We selected retrospectively eight female and five male patients, who had ESs and other seizure types within a single seizure event and for whom a video-EEG recording of the phenomenon was performed in at least one situation. RESULTS: The seizure type associated with ESs was a partial seizure in all patients. We identified three groups with different seizure patterns regarding the temporal association of ES and partial seizures (PSs): (a) PS followed by ES; (b) PS appearing during a cluster of ESs without interrupting the cluster; and (c) complex seizure interaction with a succession of ESs and PSs in a close but variable temporal association. Underlying disorders included cortical dysplasia (three patients), complex cerebral malformations (two patients), and perinatal anoxic-ischemic injuries (two patients); four cases were classified as cryptogenic, and in two children, etiology was unknown, but prenatal origin was suspected. Outcome was poor in nine cases with intractable epilepsy; four cases had a favorable outcome, defined as complete cessation of epileptic seizures. CONCLUSIONS: The phenomenon of associated ESs and PSs as a single ictal event can be related to different etiologies and should not be considered distinctive for cortical malformations or severe brain damage. Different seizure patterns of associated ESs and PSs provide no hint for etiology or prognosis. Outcome is prevalently but not constantly unfavorable in patients with the phenomenon.     

Drug-resistant epilepsy in children with partial onset epilepsy treated with carbamazepine

Objective: To evaluate the outcome, including drug-resistant epilepsy (DRE) in children with newly diagnosed partial onset epilepsy treated with carbamazepine (CBZ). Methods: A retrospective medical records review and telephone questionnaire were undertaken on a total of 100 subjects. Results: Long-term follow-up was obtained on 79 children with a mean duration of 7.1 years from CBZ initiation. A total of 66 (83.5%) subjects achieved 2-year seizure remission, 48 (72.7%) subjects did so with CBZ monotherapy. Seven (10.6%) had seizure recurrence after 2-year seizure remission. DRE was diagnosed in seven (8.9%) subjects and five subjects had epilepsy surgery. The mean duration from seizure onset to epilepsy surgery was 5.3 (±2.1) years. Contributing factors for the prolonged duration from seizure onset to epilepsy surgery were identified including: relapsing–remitting course of seizure, family reluctance for epilepsy surgery and uncontrolled psychological problems. Conclusions: Over 80% of children with newly diagnosed partial onset epilepsy who were initially treated with CBZ achieved 2-year seizure remission, and more than 70% of this group did so with CBZ monotherapy. The majority of these patients maintained seizure remission overtime. However, 8.9% of this population met the criteria for DRE and most of them had epilepsy surgery. The duration from seizure onset to epilepsy surgery is an important potential area for improvement in DRE patient care.     

Analysis of factors influencing admission to intensive care following convulsive status epilepticus in children

ObjectivesTo identify clinical features and therapeutic decisions that influence admission to the Intensive Care unit (ICU) in children presenting with convulsive status epilepticus (CSE).MethodsWe evaluated 47 admissions with status epilepticus to a tertiary paediatric hospital A&;E over a three year period (2003–2006). Following initial management 23 episodes required admission to ICU and 24 were managed on a paediatric ward. We compared clinical, demographic data and compliance with our CSE protocol between the ICU and ward groups.ResultsMedian age at presentation in the ICU group was 17 months (range 3 months–11 years) compared to 46 months in the ward group (range 3 months–10 years). Fifty per cent of patients in both groups had a previous history of seizures. Median duration of pre-hospital seizure activity was 30 min in both groups. More than two doses of benzodiazepines were given as first line medication in 62% of the ICU group and 33% of the ward group. Among children admitted to ICU with CSE, 26% had been managed according to the CSE protocol, compared to 66% of children who were admitted to a hospital ward. Febrile seizures were the most common aetiology in both groups.ConclusionYounger age at presentation, administration of more than two doses of benzodiazepines and deviation from the CSE protocol appear to be factors which influence admission of children to ICU. Recognition of pre-hospital administration of benzodiazepines and adherence to therapeutic guidelines may reduce the need for ventilatory support in this group.     

Convulsive status epilepticus in children with intractable epilepsy is frequently focal in origin

BACKGROUND: Convulsive status epilepticus (CSE) is a common neurological emergency. Our objectives were to study children with recurrent nonfebrile CSE to assess the evidence for focal origin. METHODS: Series of 18 children with recurrent CSE and intractable epilepsy were identified by chart review. Clinical, radiological, and EEG data were reviewed. Focal structural abnormalities were identified on MRI and CT images by one neuroradiologist who was unaware of the clinical details. RESULTS: The patient's ages ranged between 6-22 years (mean 15.3, SD 4), and 67% were males. Most children (89%) had a severe cognitive and / or behavioural disorder. Most patients (89%) had multiple seizure types and 95% of these were partial seizures. Twelve (67%) children had at least one episode of CSE with focal features identified clinically. Focal brain abnormalities were detected on 18% and 55% of CT and MRI films respectively. Overall, 53% had a focal abnormality on structural neuroimaging. Interictal EEG revealed focal or multifocal abnormalities on at least one occasion in 94% and 22% of patients respectively. Overall, 17 patients had focal features on at least one EEG. Thirteen ictal EEGs were recorded on 11 (61%) patients. Ten (91%) of these recordings revealed a focal onset. CONCLUSIONS: Many handicapped children with recurrent CSE have focal clinical, radiological, or electrographic features. This supports a focal origin for CSE in most children with intractable epilepsy.     

Panayiotopoulos syndrome: a prospective study of 192 patients

OBJECTIVES: To characterize the electroclinical features and evolution of Panayiotopoulos Syndrome (PS). METHODS: Children with electroclinical criteria of PS were prospectively identified and followed-up clinically, and with sleep and awake EEGs between February 1990 and 2006. RESULTS: We identified 192 patients with PS. In the same length of time 398 children with benign childhood epilepsy with centro-temporal spikes (BCECTS) were registered. PS had a peak age at onset of 5 years. Autonomic manifestations were one of the most common ictal event. Ictal deviation of the eyes and progression to generalized convulsions were also quite frequent. Approximately one third had partial status epilepticus. In all patients except five, the seizures occurred during sleep. One-third also had fits while awake. Sixteen children had concomitant symptoms of rolandic epilepsy and eight developed rolandic seizures after remission of PS seizures. Prognosis was excellent. Eighty-four (44.2%) had a single seizure, 79 (41.2%) had 2-5 fits, and 28 (14.6%) had frequent seizures. CONCLUSION: PS is less common than BCECTS, but is well defined and easily recognizable by clinical and EEG features, with autonomic manifestations as one of the most common ictal event.     

Predictive value of EEG findings at control of epileptic spasms for seizure relapse in patients with West syndrome

PurposeTo evaluate the prognostic importance of electroencephalography (EEG) findings at cessation of epileptic spasms for seizure outcome.MethodsWe reviewed 71 children with West syndrome (cryptogenic 14) who had obtained control of epileptic spasms with initial treatment (adrenocorticotropic hormone (ACTH) 37, high-dose vitamin B₆ 2, and antiepileptic drugs 32). According to the EEG findings at control of epileptic spasms, the subjects were divided into three groups: normal group (no epileptic activity, n = 12), abnormal group (residual epileptic activity without hypsarrhythmia, n = 53), and hypsarrhythmic group (persisting hypsarrhythmia, n = 6).ResultsOverall, 47 (66%) of the 71 patients (cryptogenic 4) had experienced relapses of seizures (epileptic spasms 23 and focal seizure 24) after initial control of epileptic spasms. Within symptomatic cases, seizure relapse rate varied widely from 0% (Down syndrome) to 100% (tuberous sclerosis), depending on underlying causes. Seizure relapse depended on the EEG findings at control of epileptic spasms. The normal group had a significantly lower seizure relapse rate (17%) in comparison with the abnormal group (75%), the hypsarrhythmic group (83%), and the epileptiform (abnormal plus hypsarrhythmic, 76%) group. No significant difference in seizure relapse rate was observed between non-hypsarrhythmic (normal plus abnormal, 65%) and hypsarrhythmic groups. At the last follow-up, normal group children also showed a favorable seizure prognosis (seizure control 100%).ConclusionsA favorable seizure prognosis is associated with the disappearance of epileptic activity, but not the resolution of hypsarrhythmic pattern on EEG at control of epileptic spasms. We suggest that effective treatment for West syndrome should produce both cessation of epileptic spasms and disappearance of epileptic activity on EEG.     

Long term outcome of benign childhood epilepsy with centrotemporal spikes: Dutch Study of Epilepsy in Childhood

PurposeTo determine long-term outcome in a cohort of children with newly diagnosed benign childhood epilepsy with centrotemporal spikes (BECTS).Methods29 children with BECTS were included in the Dutch Study of Epilepsy in Childhood. Each child was followed for 5 years, and subsequently contacted 12–17 years after enrolment to complete a structured questionnaire. Twenty children had typical BECTS, nine had atypical BECTS (age at onset <4 years, developmental delay or learning difficulties at inclusion, other seizure types, atypical EEG abnormalities).ResultsMean age at onset of epilepsy was 8.0 years with slight male preponderance. Most common seizure-types before enrolment were generalized tonic–clonic seizures (GTCS) and simple partial seizures; in 86% of the children seizures occurred during sleep. After 12–17 years, 96% had a terminal remission (TR_F) of more than 5 years and 89% of more than 10 years. Mean duration of epilepsy was 2.7 years; mean age at reaching TR_F was 10.6 years. Many children (63%) had experienced one or more (secondary) GTCS. Antiepileptic drugs were used by 79% of the children with a mean duration of 3.0 years. None of the children seemed to have developed learning problems or an arrest of cognitive development during follow-up. No significant differences were observed in patient characteristics or outcome between children with typical BECTS and children with atypical BECTS.ConclusionsAll children in our cohort, both those with typical and atypical BECTS, had a very good prognosis with high remission rates after 12–17 years. None of the predictive factors for disease course and outcome observed in earlier studies (other seizure types, age at onset, multiple seizures at onset) were prognostic in our cohort.     

The Role of Continuous Electroencephalography in Childhood Encephalitis

BackgroundSeizures are a known complication of encephalitis. We sought to determine the incidence of seizures and the relative utility of routine and continuous electroencephalography in children with suspected encephalitis.MethodsRecords from all 217 children (ages 0-20 years, enrolled 2004-2011) from our institution who had diagnostic samples sent to the California Encephalitis Project were reviewed.ResultsOne hundred children (46%) had at least one seizure observed clinically or recorded on electroencephalography. Diffuse abnormalities (e.g., generalized slowing) were more common than focal or epileptiform abnormalities (88.9% vs 63.2% and 57.3%, respectively; P < 0.0001), but focal and epileptiform abnormalities were more correlated with seizures (91.0% [P = 0.04] and 89.2% [P = 0.05], respectively vs 76.9%). Fifty-four patients (25%) had at least 1 day of continuous electroencephalography. When used, continuous electroencephalography recorded a seizure in more than half of patients. Six children had no recognized seizure (clinical or electrographic) before continuous electroencephalography was performed. Twenty-two children (10%) had a seizure recorded by continuous electroencephalography after routine electroencephalography did not record a seizure. Overall, continuous electroencephalography was more likely to capture a seizure, capture a subclinical seizure, or rule out a concerning event as a seizure than routine electroencephalography (all comparisons P < 0.0001).ConclusionsChildren with suspected encephalitis are at high risk for seizures. Continuous electroencephalography is better able than routine electroencephalography to determine whether seizures are present. Further, continuous electroencephalography can guide treatment by classifying a clinical event as seizure or seizure-mimic. Our findings support the expanded use of continuous electroencephalography in children with suspected encephalitis.     

Long term effect of vagus nerve stimulation in pediatric intractable epilepsy: an extended follow-up

Purpose

Over the past two decades, vagus nerve stimulation (VNS) has become an accepted and viable treatment modality for intractable epilepsy both in children and adults. Earlier studies have demonstrated short-term seizure outcomes, usually for up to 5 years; so far, none have reported an extended outcome in children. We aimed to assess long term seizure outcome in children with intractable epilepsy for more than 5 years.

Methods

We identified patients who had VNS implantation for treatment of intractable epilepsy from March 2000 to March 2015 at our Epilepsy Center and collected data including demographic, age at epilepsy onset and VNS implantation, duration of epilepsy, seizure type, number of antiepilepsy drugs (AEDs), and monthly seizure frequency before VNS implantation and at the last clinic visit. Phone surveys were conducted with patients without recent clinic follow-up.

Results

Fifty-six patients (aged 4–17 at the time of implant) are the subjects of the study. Seizure reduction of >50 % was achieved in 9.8 % (6th month), 24 % (2nd year), 46.4 % (3rd year), and 54 %(5th year), and overall 35 (62.5 %) of the 56 subjects had a greater than 50 % reduction in seizure frequency at the last follow-up. Eleven patients became seizure free. The results, once obtained, were maintained steadily or even improved over time without any loss of efficacy during the follow-up. The only parameter, significantly related with clinical response, was age at seizure onset. The most frequent adverse events were hoarseness, cough, sore throat, and anorexia, experienced by 13 patients. Two patients had local wound infections and lead to the removal of the stimulator. An improvement in alertness, attention, and psychomotor activity, independent of the efficacy of vagal nerve stimulation, was observed in 8 patients.

Conclusion

To our knowledge, this is the first pediatric study evaluating seizure outcome over more than 5 years of follow-up, and demonstrates a favorable seizure outcome of >50 % seizure frequency in 62.5 % of patients and seizure freedom in 11 patients. It is well tolerated over an extended period of time.

     

Clinical heterogeneity of juvenile myoclonic epilepsy: Follow-up after an interval of more than 20 years

PurposeThe view that juvenile myoclonic epilepsy (JME) is a uniform and life-long disorder is currently being challenged. The aim of this study was to assess the seizure and psychosocial outcome of JME at least 20 years after onset.MethodsIn 1992, 42 patients with JME were identified. In 2012, 37 agreed to a semi-structured interview. In the remaining five, only medical records were available.ResultsOf 40 patients with known seizure outcome, 21 were in remission for >5 years. Seven were off antiepileptic drugs (AEDs), four being seizure free for >10 years. Myoclonic seizures (MC) evolving to generalized tonic–clonic seizures (GTC) were associated with seizure persistence (p = 0.013), whereas >1 year between MC and GTC onset was associated with a trend to GTC remission (p = 0.069). Of 19 patients with uncontrolled seizures, eight experienced remission with second generation AEDs.Favorable psychosocial outcome by interview was found in a third, whereas another third had psychiatric comorbidity, seven with substance or alcohol abuse. Psychosocial and seizure outcome did not correlate.ConclusionThis study corroborates the heterogeneity of JME in terms of seizure and psychosocial outcome, but without a clear association between the two. It confirms that seizure control may persist after AED withdrawal in some and supports MC evolving to GTC as a predictor of seizure persistence. Moreover, it suggests that newer broad spectrum AEDs may improve the prognosis of JME; their impact should be focus of prospective studies.     

The incidence of peri-ictal prone position in patients with generalized convulsive seizures

ObjectiveThe objectives of this study were to determine the incidence of peri-ictal prone position in patients with generalized convulsive seizures (GCS) and to further assess the risk of sudden unexpected death in epilepsy (SUDEP) associated with the prone position.MethodWe retrospectively reviewed the video-EEG data of 308 GCS in 193 patients who underwent long-term video-EEG monitoring in two epilepsy centers. We determined the peri-ictal (preictal, ictal, and/or postictal) body positions.ResultsA peri-ictal prone position was observed in 12 (6.2%) of 193 patients and 13 (4.2%) of 308 GCS. In 5 (1.6%) of 308 GCS, patients in nonprone positions at seizure onset turned into the prone position during versive seizures. In 8 (2.6%) of 308 GCS, patients were sleeping prone at seizure onset. Peri-ictal intervention with body repositioning was provided in 11 of 12 patients and 12 of the 13 GCS. Repositioning was not provided during the remaining seizure; the patient died in the prone position. In the subset of 96 GCS without ictal intervention, patients in a supine position at seizure onset remained in the supine position at seizure termination in 57 (98.3%) of 58 GCS. Patients sleeping prone at seizure onset remained in the prone position at seizure termination in 4 (80%) of 5 GCS.ConclusionOur data suggest that the incidence of peri-ictal prone position in patients with GCS is low. Both prone sleeping and forced ictal version may result in postictal prone position. Although avoiding prone sleeping may reduce the SUDEP risk, influencing forced ictal version may be difficult in the absence of supervision.     

Panayiotopoulos syndrome: A clinical,EEG, and neuropsychological study of 93 consecutive patients

Purpose: To explore the clinical, electroencephalography (EEG), neuropsychological features, and prognosis of Panayiotopoulos syndrome (PS). Methods: Of 1,794 children aged between 1 and 14 years referred for the first afebrile focal seizure, between January 1992 and December 2004, 93 (5.2%) had PS according to clinical criteria. Results: Age at onset ranged from 1.1 to 8.6 years, and was earlier in children with more than one seizure. Autonomic seizures followed a stereotypical onset and progression. Emesis, pallor, or flushing was almost always among the first symptoms that usually culminated in vomiting (77.4% of patients). More than half (55%) of seizures were longer than 30 min but these did not appear to affect remission and number of seizures. Interictal EEG showed great variability, with 79.5% of patients showing spikes of variable localizations and evolution over time; 16.1% had background abnormalities only, and 5.4% had consistently normal EEG studies. Onsets in five ictal EEGs were posterior or anterior—left or right. On neuropsychological testing, IQ and subtests of Wechsler Intelligence Scale for Children–Revised (WISC‐R) were within normal limits, although some minor statistically significant differences were found in arithmetic, comprehension, and picture arrangement in comparison with controls. Cumulative probability of recurrence was 57.6%, 45.6%, 35.1%, and 11.7% at 6, 12, 24, and 36 months, respectively, after the first seizure. Thirty‐four (58.6%) of 59 patients treated with antiepileptic drugs continued having seizures before ultimate remission. Discussion: PS is a uniform childhood susceptibility to autonomic seizures that is related to early age of development and with excellent prognosis with regard to seizure remission and neuropsychological development.     

Predictors of Recording an Event During Prolonged Inpatient Video Electroencephalogram Monitoring in Children

BackgroundDistinguishing between seizures and nonepileptic events is a key challenge in pediatric neurology. The diagnostic gold standard is prolonged inpatient video electroencephalogram monitoring. However, little is known about preadmission characteristics that are predictive of recording an event during such monitoring.MethodsThis is a retrospective chart review of children undergoing prolonged inpatient video electroencephalogram monitoring between 2009 and 2012 at a tertiary referral center for the purpose of distinguishing between seizures and nonepileptic events. Demographic information, medical history, event characteristics, and inpatient monitoring course were abstracted.ResultsTwo-hundred thirteen children were identified. The median recording duration was 25 hours (interquartile range 22.4-48.5), and median time to event of interest (among those with an event recorded) was 4.5 hours (interquartile range 1.4-18.8). An event of interest was recorded in 66% of patients. At the event level, 20% of recorded events were associated with an electroencephalogram correlate, which refers to a change in the pattern seen on the electroencephalogram during a seizure. At the patient level, 112 (79.4%) with events recorded had only nonepileptic events recorded, 25 (17.7%) had only seizures recorded, and 4 (2.8%) had both recorded. Recording an event was predicted by the presence of intellectual disability (P = 0.001), greater preadmission event frequency (P < 0.001), and shorter latency since most recent event (P < 0.001).ConclusionsProlonged inpatient electroencephalogram monitoring captured an event of interest in two-thirds of patients, with most of these events captured within less than four and a half hours of recording onset. Several factors predict a greater yield with prolonged inpatient video electroencephalogram monitoring—including event frequency, latency since the most recent event, and the presence of intellectual disability—and can be used to counsel patients regarding this study for the purpose of event capture in the context of shared decision making.     

Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants

BackgroundWe assessed the clinical utility of routine electroencephalography (EEG) in the prediction of epilepsy onset in asymptomatic infants with tuberous sclerosis complex.MethodsThis multicenter prospective observational study recruited infants younger than 7 months, seizure-free and on no antiepileptic drugs at enrollment, who all underwent serial physical examinations and video EEGs throughout the study. Parental education on seizure recognition was completed at the time of initial enrollment. Once seizure onset occurred, standard of care was applied, and subjects were followed up until 24 months.ResultsForty patients were enrolled, 28 older than 12 months with completed EEG evaluation at the time of this interim analysis. Of those, 19 (67.8%) developed seizures. Epileptic spasms occurred in 10 (52.6%), focal seizures in five (26.3%), generalized tonic-clonic seizure in one (5.3%), and a combination of epileptic spasms and focal seizures in three (15.7%). Fourteen infants (73.6%) had the first emergence of epileptiform abnormalities on EEG at an average age 4.2 months, preceding seizure onset by a median of 1.9 months. Hypsarrhythmia or modified hypsarrhythmia was not found in any infant before onset of epileptic spasms. All children with epileptiform discharges subsequently developed epilepsy (100% positive predictive value), and the negative predictive value for not developing epilepsy after a normal EEG was 64%.ConclusionsSerial routine EEGs in infants with tuberous sclerosis complex is a feasible strategy to identify individuals at high risk for epilepsy. The most frequent clinical presentation was epileptic spasms followed by focal seizures, and then a combination of both seizure types.     

Encephalopathy with hemi-status epilepticus during sleep or hemi-continuous spikes and waves during slow sleep syndrome: A study of 21 patients

PurposeTo retrospectively analyze the electroclinical features, etiology, treatment, and prognosis of 21 patients with encephalopathy with hemi-status epilepticus during sleep (ESES) or hemi-continuous spikes and waves during slow sleep (CSWSS) syndrome.MethodsCharts of 21 patients with hemi-ESES/CSWSS syndrome followed between 1997 and 2012 were analyzed. Inclusion criteria were: (1) Focal seizures or apparently generalized seizures and focal EEG epileptiform discharges; (2) Further occurrence of atypical absences, and myoclonic, atonic, and/or generalized seizures; (3) Cognitive impairment and/or behavioral disturbances; (4) Hemi-continuous spike-and-wave discharges during slow sleep in more than 85% of non-REM sleep at onset and throughout the ESES/CSWSS period.ResultsMean follow-up from onset of hemi-ESES/CSWSS was 8 years (range, 2–15 years). Idiopathic cases were not identified. Unilateral polymicrogyria was found in 11, shunted hydrocephalus in four, a porencephalic cyst associated with polymicrogyria in three, and a thalamic lesion in three children. All started with focal seizures with or without secondary generalization. During the hemi-ESES/CSWSS period, all children developed new types of seizure, such as negative and positive myoclonus, absences, motor deterioration, cognitive impairment, and behavioral disturbances. All AED responders returned to baseline cognitive development. Seven patients were refractory to AEDs.ConclusionOur study suggests that the hemi-ESES/CSWSS syndrome has electroclinical features compatible with an epileptic encephalopathy. The most commonly used treatments were clobazam, ethosuximide, and sulthiame, alone or in combination. In refractory cases, high-dose corticosteroids were administered. Although the number of patients in this study is too low to draw definite conclusions, we consider that in children with hemi-ESES/CSWSS secondary to a unilateral lesion, surgery should be considered.     

Pretreatment electroencephalographic features in patients with childhood absence epilepsy

ObjectiveTo analyze the ictal and interictal electroencephalographic (EEG) features in newly diagnosed childhood absence epilepsy (CAE) and determine the association between seizure onset topography, interictal focal spike-wave discharges (FSWDs) and accompanying clinical features of absence seizures.MethodsThe authors searched the EEG database for a definite diagnosis of CAE according to ILAE 2017 criteria. Video-EEGs of untreated pediatric patients during sleep and wakefulness were evaluated retrospectively.ResultsThe study included 47 patients (25 males, 22 females). Interictal FSWDs were observed in 49% of patients with CAE during wakefulness and in 85.1% during sleep (p = 0.001). Interictal FSWDs were most frequently observed in the frontal regions (awake: 34%; asleep: 74.5%), followed by the posterior temporoparietooccipital region (awake: 21.2%; asleep: 36.1%), and the centrotemporal region (awake: 6.4%; asleep: 8.5%). Eleven patients (23.4%) had polyspikes during sleep. Both bilateral symmetric and asymmetric seizure onset were noted in 32%, whereas focal seizure onset was observed in 14.9% of the patients. Absence seizures with and without motor components were seen in 72.3% and 61.7% of patients, respectively, and in 33% of patients both occurred. There were no associations between the existence of interictal FSWDs, focal/asymmetric seizure onset, and absence seizures with and/or without motor components.ConclusionAsymmetric and/or focal seizure onset, interictal FSWDs, and absence seizures with motor components are commonly observed in drug-naive CAE. This study found no association between seizure onset topography, interictal FSWDs, and semiological features of absence seizures.     

Manifestations and treatment of epilepsy in children with neurometabolic disorders: A series from Jordan

PurposeTo examine the characteristics of epilepsy in children with neurometabolic disorders to reveal co morbidities and optimal treatment.MethodsWe retrospectively reviewed the files of children diagnosed with a neurometabolic disorder and treated at Jordan University Hospital between 2001 and 2012. We examined the incidence, age at onset, clinical characteristics, and medical control of epilepsy.ResultsCases treated (40 boys, 30 girls) included the different categories of neurometabolic diseases. Twenty-nine patients (41.4%) were also diagnosed with epilepsy, with age at seizure onset ranging from 3 days to 7 years. All types of seizures were reported, but generalized tonic–clonic and mixed types were most common (16/29 patients, 55.2%). Patients were on either a single antiepileptic drug (16/29, 55.2%) or multiple drugs (13/29, 44.7%), and most drugs prescribed were older generation anticonvulsants. Complete seizure control was achieved in 19/29 patients (65.5%), partial control in 7/29 (24.1%), and poor or no control in 3/29 (10.3%). EEG recordings were missing from the medical files of 10/29 patients. The first EEG revealed epileptiform activity in 12/19 patients (63.2%) and was normal in 7/19 patients (36.8%).ConclusionsEpilepsy was diagnosed in about half of pediatric neurometabolic disease patients, with the majority of seizure cases well controlled.