Lack of causal association between epilepsy and dementia: A Mendelian randomization analysis.

OBJECTIVE: Epidemiological studies have reported an association between epilepsy and dementia. However, the causal relationship between epilepsy and the risk of dementia is not clear. We aimed to inspect the causal effect of epilepsy on memory loss and dementia. METHODS: We analyzed summary data of epilepsy, memory loss, and dementia from the genome-wide association study (GWAS) using the two-sample Mendelian randomization (MR) method. We used the estimated odds ratio of memory loss and dementia associated with each of the genetically defined traits to infer evidence for a causal relationship with the following exposures: all epilepsy, focal epilepsy (including focal epilepsy with hippocampal sclerosis, lesion-negative focal epilepsy, and focal epilepsy with other lesions), and genetic generalized epilepsy (including childhood absence epilepsy, generalized tonic-clonic seizures alone, Juvenile absence epilepsy, and Juvenile myoclonic epilepsy). RESULTS: According to the result of MR using the inverse variance weighted method (IVW), we found that genetically predicted epilepsy did not causally increase the risk of memory loss and dementia (p > 0.05). Results of the MR-Egger and weighted median method were consistent with the IVW method. CONCLUSIONS: No evidence has been found to support the notion that epilepsy can result in memory loss and dementia. The associations observed in epidemiological studies could be attributed, in part, to confounding or nongenetic determinants.

The landscape of drug resistant absence seizures in adolescents and adults: Pathophysiology, electroclinical spectrum and treatment options.

The persistence of typical absence seizures (AS) in adolescence and adulthood may reduce the quality of life of patients with genetic generalized epilepsies (GGEs). The prevalence of drug resistant AS is probably underestimated in this patient population, and treatment options are relatively scarce. Similarly, atypical absence seizures in developmental and epileptic encephalopathies (DEEs) may be unrecognized, and often persist into adulthood despite improvement of more severe seizures. These two seemingly distant conditions, represented by typical AS in GGE and atypical AS in DEE, share at least partially overlapping pathophysiological and genetic mechanisms, which may be the target of drug and neurostimulation therapies. In addition, some patients with drug-resistant typical AS may present electroclinical features that lie in between the two extremes represented by these generalized forms of epilepsy.

Assessing seizure burden in pediatric epilepsy using an electronic medical record-based tool through a common data element approach.

OBJECTIVE: Improvement in epilepsy care requires standardized methods to assess disease severity. We report the results of implementing common data elements (CDEs) to document epilepsy history data in the electronic medical record (EMR) after 12 months of clinical use in outpatient encounters. METHODS: Data regarding seizure frequency were collected during routine clinical encounters using a CDE-based form within our EMR. We extracted CDE data from the EMR and developed measurements for seizure severity and seizure improvement scores. Seizure burden and improvement was evaluated by patient demographic and encounter variables for in-person and telemedicine encounters. RESULTS: We assessed a total of 1696 encounters in 1038 individuals with childhood epilepsies between September 6, 2019 and September 11, 2020 contributed by 32 distinct providers. Childhood absence epilepsy (n = 121), Lennox-Gastaut syndrome (n = 86), and Dravet syndrome (n = 42) were the most common epilepsy syndromes. Overall, 43% (737/1696) of individuals had at least monthly seizures, 17% (296/1696) had a least daily seizures, and 18% (311/1696) were seizure-free for >12 months. Quantification of absolute seizure burden and changes in seizure burden over time differed between epilepsy syndromes, including high and persistent seizure burden in patients with Lennox-Gastaut syndrome. Individuals seen via telemedicine or in-person encounters had comparable seizure frequencies. Individuals identifying as Hispanic/Latino, particularly from postal codes with lower median household incomes, were more likely to have ongoing seizures that worsened over time. SIGNIFICANCE: Standardized documentation of clinical data in childhood epilepsies through CDE can be implemented in routine clinical care at scale and enables assessment of disease burden, including characterization of seizure burden over time. Our data provide insights into heterogeneous patterns of seizure control in common pediatric epilepsy syndromes and will inform future initiatives focusing on patient-centered outcomes in childhood epilepsies, including the impact of telemedicine and health care disparities.

Diagnosing and managing childhood absence epilepsy by telemedicine.

The diagnosis of childhood absence epilepsy (CAE) is typically based on history and description of spells, supported by an office-based positive hyperventilation test and confirmed by routine electroencephalography (EEG). In the current coronavirus disease 2019 (COVID-19) pandemic, many pediatric neurologists have switched to telemedicine visits for nonemergent outpatient evaluations. We present a series of children diagnosed as having CAE on the basis of a positive hyperventilation test performed during remote televisits. Several of these children were begun on treatment for CAE prior to obtaining an EEG, with significant seizure reduction. Our series documents the feasibility of CAE diagnosis and management by telemedicine.

Absence epilepsy: Characteristics, pathophysiology, attention impairments, and the related risk of accidents. A narrative review.

OBJECTIVE: Absence epilepsy (AE) is related to both cognitive and physical impairments. In this narrative review, we critically discuss the pathophysiology of AE and the impairment of attention in children and adolescents with AE. In particular, we contextualize the attentive dysfunctions of AE with the associated risks, such as accidental injuries. DATA SOURCE: An extensive literature search on attention deficits and the rate of accidental injuries in AE was run. The search was conducted on Scopus, Pubmed, and the online libraries of the University of Twente and Maastricht University. Relevant references of the included articles were added. Retrospective and prospective studies, case reports, meta-analysis, and narrative reviews were included. Only studies written in English were considered. Date of last search is February 2020. The keywords used were "absence epilepsy" AND "attention"/"awareness", "absence epilepsy" AND "accidental injuries"/"accident*"/"injuries". RESULTS: Ten retrospective and two prospective studies on cognition and AE were fully screened. Seventeen papers explicitly referring to attention in AE were reviewed. Just one paper was found to specifically focus on accidental injuries and AE, while twelve studies generally referring to epilepsy syndromes - among which AE - and related accidents were included. CONCLUSION: Absence epilepsy and attention deficits show some patterns of pathophysiological association. This relation may account for dysfunctions in everyday activities in the pediatric population. Particular metrics, such as the risk related to biking in children with AE, should be used in future studies to address the problem in a novel way and to impact clinical indications.

Treatment of epilepsy in adults: Expert opinion in South Korea.

OBJECTIVE: The aim of this study was to gather the expert opinions of Korean epileptologists regarding the treatment of adult patients with epilepsy. METHODS: A total of 42 neurologists who specialized in epilepsy were surveyed. They completed an online questionnaire describing multiple patient scenarios. Using these scenarios, they evaluated treatment strategies and gave their preference for specific antiepileptic drugs (AEDs) used to treat genetically mediated generalized epilepsy and focal epilepsy. RESULTS: Initial AED monotherapy, followed by a second form of alternative monotherapy or an add-on combination therapy, was the preferred treatment strategy. The experts reached consensus for 87.2% of the items. The most commonly selected AEDs for the initial monotherapy for patients with generalized epilepsy were levetiracetam or valproate. For those with focal epilepsy, levetiracetam, oxcarbazepine, or lamotrigine were the most popular selections. Ethosuximide was the treatment of choice only for patients with generalized epilepsy with prominent absence seizures. Levetiracetam was preferred as an add-on therapy for both generalized and focal epilepsy. For special populations of patients, such as elderly adults or those with comorbid diseases, levetiracetam or lamotrigine was selected as the treatment of choice. CONCLUSION: Most of the survey results were in accordance with the US expert opinion survey published in 2016. This survey can assist clinicians in making clinical decisions when treating individual adult patients with epilepsy.

Idiopathic (genetic) generalized epilepsies with absences: clinical and electrographic characteristics and seizure outcome.

PURPOSE: We compared various syndromes of idiopathic (genetic) generalized epilepsy (IGE) with absences based on their demographic, clinical, and electroencephalographic (EEG) findings, and their seizure outcome. METHODS: In this retrospective study, all patients with a clinical diagnosis of childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), idiopathic epilepsy with phantom absences (PAs), and Jeavons syndrome (JS) were recruited at the outpatient epilepsy clinic at Shiraz University of Medical Sciences, from 2008 until 2019. Age, gender, age at seizure onset, seizure type(s), epilepsy risk factors, history of seizure-related injuries, EEG findings, and seizure outcome of all patients were registered routinely. RESULTS: Six hundred one patients with IGE were registered at our epilepsy clinic. Two hundred thirteen patients (35.4%) were diagnosed as having IGE with absences [111 patients (52.1%) had JAE, 82 patients (38.5%) had CAE, 12 people (5.6%) had JS, and eight patients (3.8%) had PA]. A history of experiencing generalized tonic-clonic seizures and a history of seizure-related injury were significantly different between the syndromes. There were no significant differences between the syndromes with regard to their EEG findings. Seizure outcome showed a trend to be different between the syndromes of IGE (p = 0.06). CONCLUSION: Syndromes of IGE with absences are common occurrences at epilepsy clinics. Making a syndromic diagnosis could have significant clinical implications. In doing so, interictal EEG cannot differentiate between different syndromes of IGE and the key element in making a correct syndromic diagnosis is a detailed clinical history.

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.

Juvenile myoclonic epilepsy (JME) is a common syndrome of genetic generalized epilepsies (GGEs). Linkage and association studies suggest that the gene encoding the bromodomain-containing protein 2 (BRD2) may increase risk of JME. The present methylation and association study followed up a recent report highlighting that the BRD2 promoter CpG island (CpG76) is differentially hypermethylated in lymphoblastoid cells from Caucasian patients with JME compared to patients with other GGE subtypes and unaffected relatives. In contrast, we found a uniform low average percentage of methylation (<4.5%) for 13 CpG76-CpGs in whole blood cells from 782 unrelated European Caucasians, including 116 JME patients, 196 patients with genetic absence epilepsies, and 470 control subjects. We also failed to confirm an allelic association of the BRD2 promoter single nucleotide polymorphism (SNP) rs3918149 with JME (Armitage trend test, P = 0.98), and we did not detect a substantial impact of SNP rs3918149 on CpG76 methylation in either 116 JME patients (methylation quantitative trait loci [meQTL], P = 0.29) or 470 German control subjects (meQTL, P = 0.55). Our results do not support the previous observation that a high DNA methylation level of the BRD2 promoter CpG76 island is a prevalent epigenetic motif associated with JME in Caucasians.

Absence epilepsy beyond adolescence: an outcome analysis after 45 years of follow-up.

OBJECTIVES: Depending on patient age at onset, absence epilepsy is subdivided into childhood and juvenile forms. Absence seizures can occur several times per day (pyknoleptic course) or less frequently than daily (non-pyknoleptic course). Seizures typically terminate before adulthood, but a quarter of patients need ongoing treatment beyond adolescence. Little is known about their long-term seizure and psychosocial outcome. METHODS: Files of 135 outpatients with absence epilepsy (76 females; 123 had additional generalised tonic-clonic seizures) were retrospectively analysed after a median follow-up of 45.4 years (IQR: 31.9-56.2). Eighty-two subjects completed an additional interview. Patients were dichotomised according to age at epilepsy onset (childhood: n=82; juvenile: n=53) and course of absence seizures (pyknoleptic: n=80; non-pyknoleptic: n=55). RESULTS: Among all patients, 53% achieved 5-year terminal seizure remission, 16% without antiepileptic medication. Median age at last seizure was lower in patients with childhood onset of absence epilepsy (37.7 years) versus juvenile onset (44.4 years; P≤0.01). However, rates and duration of terminal seizure remission were similar. Pyknoleptic versus non-pyknoleptic course of absence seizures made no difference for long-term seizure outcome. Multivariate analysis identified only higher age at investigation to be associated with terminal 5-year seizure remission. Regarding aspects of psychosocial outcome, there were no significant differences between the respective subgroups. CONCLUSIONS: These data indicate that if absence epilepsy persists beyond adolescence, long-term seizure and psychosocial outcome do not differ between childhood and juvenile onset or between pyknoleptic and non-pyknoleptic course of absence epilepsy. However, higher patient age increases the chance of terminal seizure remission.

Pediatric Headache and Epilepsy Comorbidity in the Pragmatic Clinical Setting.

INTRODUCTION: Demographic and clinical data were collected from three cross-sectional samples, from the headache and epilepsy clinics according to respective protocols. During structured interviews, we examined the co-occurrence of headaches and epilepsy in children and their families: (1) 172 children from the headache clinic, were questioned for the number and type of epileptic seizures and epilepsy diagnosis. (2) Around 70 children from the epilepsy clinic for the frequency and type of headaches and headache syndrome diagnosis. (3) A total of 149 parents of children with benign childhood epilepsy with centro-temporal spikes (BCECTS) and childhood absence epilepsy (CAE), for the relative frequency of headaches in first- and second-degree relatives. RESULTS: Out of 172, 84 (48.8%) children with headache had a migraine and 60 (34.9%) had tension headaches; 3 children (1.7%) had epilepsy or unprovoked seizures. Migraine and epilepsy, co-occurred in 2/84 (2.3%). Eight out of 70 patients with epilepsy had headaches (11.4%); none had migraine. Around 43% of patients with BCECTS or CAE had a family history of headache, more prevalent in first-degree relatives of children with BCECTS than CAE. CONCLUSION: Contrary to existing literature, migraine and epilepsy, co-occurred infrequently in these highly selected samples. Family history of headache was frequent in patients with BCECTS and CAE, without any significant difference between the two.

Seizure outcome in patients with juvenile absence epilepsy.

The purpose of this study was to identify seizure outcome and factors potentially predictive for seizure outcome in patients with juvenile absence epilepsy (JAE). In this case-control study all patients with JAE were recruited at the outpatient epilepsy clinic at Shiraz University of Medical Sciences from 2008 till 2012. All patients had to be under the care of the epileptologist for at least 18 months. We divided the patients into two groups: patients who were seizure free in the last 12 months of their follow-up period and those who had any seizures. During the study period, 2750 patients with epilepsy were registered at our epilepsy clinic; 641 patients (23.3 %) had idiopathic generalized epilepsy (IGE). Among patients with IGE, 81 patients (12.6 %) were diagnosed as having JAE and of these, 33 patients (20 women and 13 men) were eligible to enter into the study. Ten patients (30.3 %) were seizure free in the last 12 months of their follow-up and 23 (69.6 %) patients reported at least one seizure of any type. We could not identify any factor to be associated with seizure outcome in these patients. All studies in the literature suffer from small number of patients; so does our study. Besides, they used different methodologies. A large multicenter study is required to explore the variables that predict seizure outcome in patients with juvenile absence epilepsy. This is particularly needed to provide an appropriate counselling for patients and their families and also to formulate better individualized treatment plans for the patients.

Spike-and-wave discharge mediated reduction in hippocampal HCN1 channel function associates with learning deficits in a genetic mouse model of epilepsy.

The GABAAγ2(R43Q) mouse is an established model of absence epilepsy displaying spontaneous spike-and-wave discharges (SWD) and associated behavioral arrest. Absence epilepsy typically results from cortico-thalamic networks. Nevertheless, there is increasing evidence for changes in hippocampal metabolism and electrical behavior, consistent with a link between absence seizures and hippocampus-related co-morbidities. Hyperpolarization-activated-cyclic-nucleotide-gated (HCN) channels are known to be transcriptionally regulated in a number of seizure models. Here we investigate the expression and function of these channels in the hippocampus of the genetic epilepsy model. A reduction in HCN1, but not HCN2 transcript, was observed in GABAAγ2(R43Q) mice relative to their littermate controls. In contrast, no change in HCN1 transcript was noted at an age prior to seizure expression or in a SWD-free model in which the R43Q mutation has been crossed into a seizure-resistant genetic background. Whole-cell recordings from CA1 pyramidal neurons confirm a reduction in Ih in the GABAAγ2(R43Q) mouse. Further, a left-shift in half-activation of the Ih conductance-voltage relationship is consistent with a reduction in HCN1 with no change in HCN2 channel expression. Behavioral analysis using the Morris water maze indicates that GABAAγ2(R43Q) mice are unable to learn as effectively as their wildtype littermates suggesting a deficit in hippocampal-based learning. SWD-free mice harboring the R43Q mutation had no learning deficit. We conclude that SWDs reduce hippocampal HCN1 expression and function, and that the reduction associates with a spatial learning deficit.

Quality of life in adolescent absence epilepsy at Queen Sirikit National Institute of Child Health.

OBJECTIVE: To compare the QoL between adolescents with absence epilepsy and the other types of epilepsies. MATERIAL AND METHOD: A prospective cohort study was conducted in adolescents aged 10-18 years that have been diagnosed with epilepsy at QSNICH between 2000 and 2012. The QoL was assessed using the QoLIE-AD-48, Thai version. RESULTS: Seventy-three adolescents were included in this study, of which 27 had absence epilepsy. The mean total QoLIE-AD-48 score was 63.94 (17.14). The absence group had a mean score of 74.45 (9.83), while the non-absence group had a score of 57.78 (17.57), p-value < 0.001. CONCLUSION: The QoL of adolescents with inactive absence epilepsy was significantly higher than those suffering with other types of epilepsy. The QoL in this study was similar to prior studies.

Childhood Absence Epilepsy- Electroclinical Profile and Prevalence of Attention-Deficit/Hyperactivity Disorder Among a Cohort of 47 Children.

BACKGROUND: We aimed to find the proportion of attention-deficit/hyperactivity disorder (ADHD) among children with childhood absence epilepsy (CAE) and to describe their electroclinical features. METHODS: Video electroencephalography (EEG) was performed on 47 children who fulfilled International League Against Epilepsy criteria for CAE. These children were also assessed for the presence of ADHD. RESULTS: Of the 47 children, 27 (57%) met criteria for the diagnosis of ADHD. Majority (74%) of them had inattentive type of ADHD. Age at onset of absences ranged from three to 12 years (mean 7.2 ± 2.47). We analyzed 219 seizures (154 electroclinical and 65 electrographic). The average seizure duration was 7.1 seconds (range 1 to 38 [S.D. 5.81]). Of the 154 clinical absences, ictal discharges were less than or equal to two seconds in nine of 154 (5.8%); greater than two to less than or equal to four seconds in 33 of 154 (21.4%), and longer than 20 seconds in 11 of 154 (7%). The longest duration of ictal discharge recorded was 38 seconds, and the shortest duration was one second. The onset of ictal discharge had a "lead in" focus in 81% (177 of 219). CONCLUSIONS: The proportion of ADHD among children with CAE is high. A "lead in" focus of the generalized ictal discharges was observed frequently, lending support to the theory that the origin of seizure discharges in CAE is indeed cortical. The shortest ictal discharge recorded was one second.

Early onset absence epilepsy of childhood: Epidemiologic data, treatment and outcome in a sample of 56 patients born between 2000 and 2018.

PURPOSE: The aim of our work is to describe the characteristics of Early Onset Absence Epilepsy (EOAE) and to observe whether specific anamnestic, clinical or electroencephalographic characteristics can influence the drug sensitivity of this pathology. METHODS: We carried out a retrospective study of patients affected by absence epilepsy with onset under four years of age, born between January 1st 2000 and December 31st 2018, who were reffered to the Regional Epilepsy Center of Spedali Civili of Brescia. We then divided the sample into three groups based on the age of onset. RESULTS: Our sample is composed of 56 patients. Among the children with epilepsy onset under two years of age (11), all were still on therapy after three and six years of follow-up, and 64 % of them required polytherapy. Among patients with epilepsy onset between two and three years of age (24), 87 % were still on therapy after three years of follow-up and 68 % after six years of follow-up; 46 % of these subjects required polytherapy. Among patients with epilepsy onset between three and four years of age (21), 89 % were still on therapy after three years of follow-up and 38 % after six years of follow-up; 38 % of them required polytherapy. CONCLUSIONS: We observe that patients with an earlier epilepsy onset have a worse outcome and a lower drug sensitivity. This may allow to predict in which cases it would be appropriate to maintain antiseizure therapy for a prolonged period.

Early onset absence epilepsy with onset in the first year of life: a multicenter cohort study.

PURPOSE: Absence epilepsy with onset before age 4 years, or early onset absence epilepsy (EOAE), has been rarely reported, and children with onset in the first year of life are considered almost exceptional. We aimed to report the clinical and electrophysiologic features of a cohort of children with absence epilepsy starting within the first year of life. METHODS: This was a multicenter study including patients with absence epilepsy starting within the first year of life and identified over a 20-year period (1991-2011). KEY FINDINGS: We identified 16 patients with absence epilepsy starting within the first year of life with a mean follow-up of 6.4 years. Mean age at seizure onset was 10.3 ± (standard deviation)1.4 months (range 8-12). Two patients experienced rare tonic-clonic seizures that started later than the absences. None of the subjects had episodes of absence status epilepticus. Eleven subjects were seizure-free with the first antiepileptic drug. In eight children, therapy was withdrawn after a mean 3.2 years of treatment. None evolved into a different form of idiopathic generalized epilepsy. SLC2A1 gene analysis in 12 children (75%) failed to reveal glucose transporter 1 deficiency. SIGNIFICANCE: EOAE, including patients with onset within the first year of life, should be no more considered a distinct idiopathic generalized epilepsy (IGE) syndrome, as it shows electroclinical features, response to therapy, and prognosis similar to childhood absence epilepsy. Moreover, early age of onset is not predictive of GLUT-1 deficiency and genetic analysis may be therefore avoided in patients meeting strict inclusion criteria.

Use of the modified Atkins diet for treatment of refractory childhood epilepsy: a randomized controlled trial.

PURPOSE: The aim of this study was to evaluate the efficacy of the modified Atkins diet in a randomized controlled trial in children with refractory epilepsy. METHODS: Children aged 2-14 years who had daily seizures despite the appropriate use of at least three anticonvulsant drugs were enrolled. Children were randomized to receive either the modified Atkins diet or no dietary intervention for a period of 3 months. The ongoing anticonvulsant medications were continued unchanged in both the groups. Seizure control at 3 months was the primary end point. Analysis was intention to treat. Adverse effects of the diet were assessed by parental reports (ClinicalTrials.gov Identifier: NCT00836836). KEY FINDINGS: Among a total of 102 children, 50 were in the diet group and 52 in the control group. Four children discontinued the diet before the study end point, and three children in the control group were lost to follow-up. The mean seizure frequency at 3 months, expressed as a percentage of the baseline, was significantly less in the diet group: 59 ± 54 (95% confidence interval [CI] 44-74.5) versus 95.5 ± 48 (95% CI 82-109), p = 0.003. The proportion of children with >90% seizure reduction (30% vs. 7.7%, p = 0.005) and >50% seizure reduction was significantly higher in the diet group (52% vs. 11.5%, p < 0.001). Constipation was the most common adverse effect among children on the diet (23, 46%). SIGNIFICANCE: The modified Atkins diet was found to be effective and well tolerated in children with drug-refractory epilepsy.

Neurobehavioral comorbidities of pediatric epilepsies are linked to thalamic structural abnormalities.

PURPOSE: Neurobehavioral comorbidities are common in pediatric epilepsy with enduring adverse effects on functioning, but their neuroanatomic underpinning is unclear. Striatal and thalamic abnormalities have been associated with childhood-onset epilepsies, suggesting that epilepsy-related changes in the subcortical circuit might be associated with the comorbidities of children with epilepsy. We aimed to compare subcortical volumes and their relationship with age in children with complex partial seizures (CPS), childhood absence epilepsy (CAE), and healthy controls (HC). We examined the shared versus unique structural-functional relationships of these volumes with behavior problems, intelligence, language, peer interaction, and epilepsy variables in these two epilepsy syndromes. METHODS: We investigated volumetric differences of caudate, putamen, pallidum, and thalamus in children with CPS (N = 21), CAE (N = 20), and HC (N = 27). Study subjects underwent structural magnetic resonance imaging (MRI), intelligence, and language testing. Parent-completed Child Behavior Checklists provided behavior problem and peer interaction scores. We examined the association of age, intelligence quotient (IQ), language, behavioral problems, and epilepsy variables with subcortical volumes that were significantly different between the children with epilepsy and HC. KEY FINDINGS: Both children with CPS and CAE exhibited significantly smaller left thalamic volume compared to HC. In terms of developmental trajectory, greater thalamic volume was significantly correlated with increasing age in children with CPS and CAE but not in HC. With regard to the comorbidities, reduced left thalamic volumes were related to more social problems in children with CPS and CAE. Smaller left thalamic volumes in children with CPS were also associated with poor attention, lower IQ and language scores, and impaired peer interaction. SIGNIFICANCE: Our study is the first to directly compare and detect shared thalamic structural abnormalities in children with CPS and CAE. These findings highlight the vulnerability of the thalamus and provide important new insights on its possible role in the neurobehavioral comorbidities of childhood-onset epilepsy.

School performance and psychiatric comorbidity in childhood absence epilepsy: A Danish cohort study.

The aim was to determine school performance and psychiatric comorbidity in children with childhood absence epilepsy (CAE). We reviewed the medical records in children with ICD-10 codes for idiopathic generalized epilepsy before 18 years of age, and pediatric neurologists confirmed the International League Against Epilepsy criteria for CAE were met. Control groups were the general pediatric population or children with non-neurological chronic disease. Outcomes were from nationwide and population-based registers on school performance and psychiatric comorbidity. We compared the mean grade point average using linear regression and estimated hazard ratios (HR) using Cox regression for the other outcomes. Analyses were adjusted for the child's sex, and year of birth, and parental highest education, receipt of cash benefits or early disability pension. We included 114 children with CAE with a median age at onset of 5.9 years (interquartile range = 4.5-7.3 years). Compared with both population controls and non-neurological chronically ill children, children with CAE had increased hazard of special needs education (HR = 2.7, 95% confidence interval (CI) = 1.8-4.1, p < 0.0001), lower grade point average at 9th grade by 1.7 grade points (95% CI = -2.5 to -1.0, p < 0.001), increased ADHD medicine use (HR = 4.4, 95% CI = 2.7-7.2, p < 0.001), increased sleep medicine use (HR = 2.7, 95% CI = 1.7-4.3, p < 0.001), and increased psychiatry visits (HR = 2.1, 95% CI = 1.1-4.0, p = 0.03). In conclusion, children with CAE have increased psychiatric comorbidity and a considerable proportion of these children receive special needs education in primary/secondary school, albeit insufficient to normalize their considerably lower grade point average in the 9th grade.

[Idiopathic generalized epilepsies: Analysis of 101 patients]. / Epilepsias generalizadas idiopáticas: análisis de 101 pacientes.

INTRODUCTION: Idiopathic generalized epilepsies (IGI) are an electroclinical syndrome that includes four subsyndromes according to the ILAE 2017 classification. The long-term prognosis of these syndromes is uncertain due to the scarcity and heterogeneity of the studies. The objective of this study is to analyze the long-term prognosis of these syndromes, pharmacological treatment and the seizure recurrence. METHOD: Observational and retrospective study of a serie of patients diagnosed with EGI. Epidemiological variables, pharmacological treatment, freedom of seizures and recurrence after withdrawal of treatment were collected. RESULTS: We included 101 patients, the majority women (56.4%), with a median evolution of epilepsy of 17 years (interquartile range: 7-31). The most frequent syndrome was juvenile myoclonic epilepsy (46.5%), followed by epilepsy with generalized tonic-clonic seizures alone (25.7%), juvenile absence epilepsy (13.9%) and childhood absence epilepsy (13.9%). The 71.29% were on monotherapy and 20.79% on polytherapy, with significant differences between the different syndromes (P=.001). The most widely used drug was valproic acid. 39.6% presented seizure remission at 5 years, but we did not observe significant differences between the different syndromes (P=.982). The recurrence rate was 71.4% after withdrawal of treatment. CONCLUSION: Juvenile myoclonic epilepsy was the most frequent subtype of IGE. We observed significant differences in terms of polytherapy in the different syndromes, although not in the rates of remission of seizures at one year and at five years. The majority of patients with treatment withdrawal relapsed.