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OBJECTIVE: Research around the frequency of psychiatric diseases and psychosocial consequences caused by seizures and stigmatization in patients with epilepsy is important, in terms of multidimensional evaluation of the condition, increasing quality of life, and controlling the frequency of seizures. This prospective study aimed to evaluate relationship between comorbid psychiatric diseases and clinical and sociodemographic data, patients' quality of life and perceived stigma in patients with epilepsy. METHODS: In this prospective single-center study, we evaluated clinical and demographic data, and characteristics of epilepsy. We used the Symptom Check List 90-Revised (SCL-90-R) as a screening test for psychiatric comorbidities and the Mini International Neuropsychiatric Interview (MINI) test for patients who had an SCL90-R general symptom index (GSI) score of ≥1. The frequency of psychiatric comorbidities, the association between comorbid psychiatric disorders and quality of life, and the level of stigmatization in patients with epilepsy was assessed using the Quality of Life in Epilepsy Inventory (QOLIE-10) and Perceived Stigma Scale. RESULTS: SCL90-R GSI scores of ≥1 were found in 122 of 300 patients. Psychiatric comorbidities were found in 24.8% (n = 69) of patients with epilepsy in the MINI test, major depression was found in 16.9 %, (n = 47), and generalized anxiety disorder was the most common (5.7 %, n = 16). The number of anti-seizure medications (p = 0.007), high seizure frequency (p = 0.01), seizure in previous 12 months (p = 0.003), history of epilepsy surgery (p = 0.032) and psychiatric disease (p < 0.001), and high perceived stigma (p < 0.001) and QOLIE-10 (p < 0.001) scores were all correlated with psychiatric comorbidities. CONCLUSIONS: According to the results of our study, an important correlation was determined between psychiatric comorbidities and a history of psychiatric disease, poor quality of life, and high perceived stigma scores in patients with epilepsy. This suggests that screening patients for comorbid psychiatric conditions in epilepsy outpatient clinics is critical, as is establishing a strong collaboration with the psychiatry clinic, to reduce psychosocial issues and the economic burden of stigmatization and improve quality of life.
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Comorbidade , Epilepsia , Transtornos Mentais , Qualidade de Vida , Estigma Social , Humanos , Qualidade de Vida/psicologia , Masculino , Feminino , Epilepsia/psicologia , Epilepsia/epidemiologia , Epilepsia/complicações , Adulto , Pessoa de Meia-Idade , Transtornos Mentais/epidemiologia , Transtornos Mentais/psicologia , Estudos Prospectivos , Adulto Jovem , Adolescente , Idoso , Escalas de Graduação PsiquiátricaRESUMO
OBJECTIVE: The aim of this study was to evaluate caregiver burden and factors associated with caregiver burden in caregivers of adults with epilepsy. MATERIALS AND METHODS: This descriptive cross-sectional study was conducted with 107 patients with epilepsy and 107 their primary caregivers. Personal information form including sociodemographic data and Zarit Caregiver Burden Inventory (ZBI), were used for caregivers, and patient information form, Montreal Cognitive Assessment Scale (MoCA), Hospital Anxiety and Depression Scale (HADS), Epilepsy Quality of Life Scale (QoLIE-31) and Stigma Scale were used for patients. RESULTS: Caregiver burden was found to be related to gender (p = 0.047), marital status (p = 0.008), income (p = 0.003), education level (p = 0.05) age at onset of epilepsy (p = 0.025) and type of therapy (p = 0.005). The scale scores for cognitive functions (p < 0.001), stigma (p < 0.001), anxiety (p = 0.001), depression (p = 0.005), and quality of life (p < 0.001) of the patient showed significant correlations with caregiver burden. In addition, caregiver burden was found to correlate with some caregiver characteristics such as caregivers' age (p = 0.041), gender (p < 0.001), education (p < 0.001), income (p = 0.001) and relationship with the patient (p = 0.016). Time spent on caregiving per day was also positively correlated with caregiving burden (p < 0.001). In regression analysis, the gender of the caregiver, the gender of the patient, the stigma level of patient, and the type of treatment were found to be predictors of care burden (p < 0.05, R2 = 0.61). CONCLUSION: It was found that two-thirds of the families of patients with epilepsy experienced varying degrees of caregiver burden. In addition, it was determined that caregiver burden was associated with sociodemographic and numerous psychosocial factors of the patient as well as the caregiver. It is important that both the caregiver and the patient being cared for are closely evaluated in interventions to reduce the caregiver burden in patients with epilepsy.
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Epilepsia , Qualidade de Vida , Adulto , Humanos , Qualidade de Vida/psicologia , Sobrecarga do Cuidador , Efeitos Psicossociais da Doença , Estudos Transversais , Cuidadores/psicologia , Depressão/psicologiaRESUMO
INTRODUCTION: Pediatric epilepsy surgery is an effective treatment modality for patients with drug-resistant epilepsy (DRE). Early pediatric surgery yields favorable results for DRE in terms of seizure control and neurophysiological outcome. In this study, pediatric patients were categorized based on their age (above 3 years old and below 3 years old) to demonstrate the effectiveness and safety of surgical procedures. METHODS: In this retrospective, single-center study, 60 pediatric patients who underwent epilepsy surgery at Istanbul Faculty of Medicine between 2002 and 2018 were evaluated. Overall morbidity and mortality rates, as well as seizure outcomes of the patients, were assessed and compared based on two age groups: those aged 3 years old or younger and those older than 3 years old. The effectiveness of invasive monitoring was also evaluated in relation to pathological results. The postoperative seizure outcome rates were evaluated using Engel's classification, with an average follow-up period of 8.7 years. RESULTS: Out of the total number of patients, 47 (78.4%) underwent resective surgery, while 13 (21.6%) had palliative surgery. Ten patients (16.6%) had invasive monitoring. Among all patients, 34 were classified as Engel I and II (56.6%), while 26 were classified as Engel III and IV (43.4%) postoperatively. 47% of patients who were under 3 years old, 60.4% of patients who were over 3 years old, and 50% of patients who underwent invasive monitoring had a favorable seizure outcome (Engel I-II). Postoperative morbidity and mortality rates were 35% (n = 21) and 1.6% (n = 1), respectively. CONCLUSION: Pediatric epilepsy surgery is an important treatment modality for preserving cognitive abilities and providing effective treatment for pediatric DRE. In our study, we claim that both invasive monitoring and epilepsy surgery lead to favorable seizure outcomes for all age groups. Further clinical studies should be conducted to provide more reliable data on the safety and effectiveness of the surgery, particularly in patients under the age of three.
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Epilepsia Resistente a Medicamentos , Epilepsia , Criança , Humanos , Pré-Escolar , Epilepsia Resistente a Medicamentos/cirurgia , Estudos Retrospectivos , Eletroencefalografia , Epilepsia/cirurgia , Convulsões , Resultado do TratamentoRESUMO
OBJECTIVE: The present study was aimed at investigating the effects of anti-seizure medications (ASMs), patient demographic characteristics, and the seizure type and frequency on the development of congenital malformations (CMs) in the infants of pregnant women with epilepsy (PWWE). METHODS: PWWE followed up at the neurology outpatient clinic of 21 centers between 2014 and 2019 were included in this prospective study. The follow-up of PWWE was conducted using structured, general pregnant follow-up forms prepared by the Pregnancy and Epilepsy Study Committee. The newborns were examined by a neonatologist after delivery and at 1 and 3 months postpartum. RESULTS: Of the infants of 759 PWWE, 7.2% had CMs, with 5.6% having major CMs. Polytherapy, monotherapy, and no medications were received by 168 (22.1%), 548 (72.2 %), and 43 (5.7 %) patients, respectively. CMs were detected at an incidence of 2.3% in infants of PWWE who did not receive medication, 5.7% in infants of PWWE who received monotherapy, and 13.7% in infants of PWWE who received polytherapy. The risk of malformation was 2.31-fold (95% confidence interval (CI): 1.48-4.61, p < .001) higher in infants of PWWE who received polytherapy. Levetiracetam was the most frequently used seizure medication as monotherapy, with the highest incidence of CMs occurring with valproic acid (VPA) use (8.5%) and the lowest with lamotrigine use (2.1%). The incidence of CMs was 5% at a carbamazepine dose <700 mg, 10% at a carbamazepine dose ≥700 mg, 5.5% at a VPA dose <750 mg, and 14.8% at a VPA dose ≥750 mg. Thus the risk of malformation increased 2.33 times (p = .041) in infants of PWWE receiving high-dose ASMs. SIGNIFICANCE: Birth outcomes of PWWE receiving and not receiving ASMs were evaluated. The risk of CMs occurrence was higher, particularly in infants of PWWE using VPA and receiving polytherapy. The incidence of CMs was found to be lower in infants of PWWE receiving lamotrigine.
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Epilepsia , Complicações na Gravidez , Lactente , Humanos , Feminino , Gravidez , Recém-Nascido , Lamotrigina/uso terapêutico , Gestantes , Estudos Prospectivos , Complicações na Gravidez/tratamento farmacológico , Complicações na Gravidez/epidemiologia , Epilepsia/tratamento farmacológico , Epilepsia/epidemiologia , Anticonvulsivantes/efeitos adversos , Carbamazepina/uso terapêutico , Ácido Valproico/uso terapêuticoRESUMO
Neurodevelopmental disorders (NDDs) have broad heterogeneity both clinically and genetically. Inborn errors of metabolism can be one of the reasons of neurodevelopmental disruption causing specific NDDs. Although there is tremendous advance in molecular identification via next-generation sequencing (NGS), there are still many unsolved patients with NDD. Reanalysis of NGS data with different pipelines can at least partially accomplish this challenge. Herein, we report clinic and genetic components of an adult sib-pair with an undiagnosed NDD condition, which has been solved through reanalysis of whole-exome sequencing (WES). Parallel analysis of SNP-based genotyping and WES was performed to focus on variants only in loci with positive logarithm of the odds scores. WES data was analyzed through three different pipelines with two distinct bed files. Reanalysis of WES data led us to detect a homozygous FOLR1 variant (ENST00000393676.5:c.610C > T, p.(Arg204Ter), rs952165627) in the affected sib-pair. Surprisingly, the variant could not be detected in the first analysis as the variant region is not included in the first bed file which may frequently be used. Biochemical tests of CSF have confirmed the genetic analysis, CSF folic acid levels were detected low in sib-pair, and intravenous folinic acid treatment improved the disease course for the first 6 months of follow-up even at late diagnosis age. Although combined analysis of SNP-based genotyping and WES is a powerful tool to reveal the genetic components of heterogeneous diseases, reanalysis of genome data still should be considered in unsolved patients. Also, biochemical screening helps us to decipher undiagnosed NDD that may be a treatable neurometabolic condition.
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Transtornos do Neurodesenvolvimento , Irmãos , Adulto , Humanos , Sequenciamento do Exoma , Exoma/genética , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/genética , Homozigoto , Receptor 1 de Folato/genéticaRESUMO
PURPOSE: Sepsis-associated encephalopathy (SAE) is a common manifestation of sepsis that may lead to cognitive decline. Our aim was to investigate whether the neurofilament light chain (NFL) and soluble triggering receptor expressed on myeloid cells 2 (sTREM2) could be utilized as prognostic biomarkers in SAE. MATERIALS AND METHODS: In this prospective observational study, baseline serum levels of sTREM2 and cerebrospinal fluid (CSF) levels of sTREM2 and NFL were measured by ELISA in 11 SAE patients and controls. Patients underwent daily neurological examination. Brain magnetic resonance imaging (MRI) and standard electroencephalography (EEG) were performed. Cognitive dysfunction was longitudinally assessed after discharge in 4 SAE patients using the Mini-Mental State Examination (MMSE) and Addenbrooke's Cognitive Examination-Revised (ACE-R) tests. RESULTS: SAE patients showed higher CSF sTREM2 and NFL levels than controls. sTREM2 and NFL levels were not correlated with the severity measures of sepsis. Three months after discharge, 2 SAE patients displayed ACE-R scores congruent with mild cognitive impairment (MCI), persisting in one patient 12 months after discharge. SAE patients with MCI showed higher CSF NFL levels, bacteremia, and abnormal brain MRI. Patients with increased serum/CSF sTREM2 levels showed trends towards displaying poorer attention/orientation and visuo-spatial skills. CONCLUSIONS: sTREM2 and NFL levels may serve as a prognostic biomarker for cognitive decline in SAE. These results lend further support for the involvement of glial activation and neuroaxonal degeneration in the physiopathology of SAE.
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Doença de Alzheimer , Disfunção Cognitiva , Encefalopatia Associada a Sepse , Sepse , Humanos , Encefalopatia Associada a Sepse/diagnóstico por imagem , Encefalopatia Associada a Sepse/patologia , Biomarcadores , Disfunção Cognitiva/etiologia , Disfunção Cognitiva/diagnóstico , Encéfalo/patologia , Sepse/complicações , Doença de Alzheimer/diagnósticoRESUMO
Exome sequencing was performed in 2 unrelated families with progressive myoclonus epilepsy. Affected individuals from both families shared a rare, homozygous c.191A > G variant affecting a splice site in SLC7A6OS. Analysis of cDNA from lymphoblastoid cells demonstrated partial splice site abolition and the creation of an abnormal isoform. Quantitative reverse transcriptase polymerase chain reaction and Western blot showed a marked reduction of protein expression. Haplotype analysis identified a ~0.85cM shared genomic region on chromosome 16q encompassing the c.191A > G variant, consistent with a distant ancestor common to both families. Our results suggest that biallelic loss-of-function variants in SLC7A6OS are a novel genetic cause of progressive myoclonus epilepsy. ANN NEUROL 2021;89:402-407.
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Epilepsias Mioclônicas Progressivas/genética , Peptídeo Hidrolases/genética , Sítios de Splice de RNA/genética , Adolescente , Ataxia/genética , Ataxia/fisiopatologia , Atrofia , Western Blotting , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Criança , Disfunção Cognitiva/genética , Disfunção Cognitiva/fisiopatologia , Disfunção Cognitiva/psicologia , DNA Complementar , Eletroencefalografia , Feminino , Homozigoto , Humanos , Mutação com Perda de Função , Imageamento por Ressonância Magnética , Masculino , Epilepsias Mioclônicas Progressivas/diagnóstico por imagem , Epilepsias Mioclônicas Progressivas/fisiopatologia , Epilepsias Mioclônicas Progressivas/psicologia , Linhagem , Peptídeo Hidrolases/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Adulto JovemRESUMO
OBJECTIVE: The link between headache and epilepsy is more prominent in patients with idiopathic/genetic epilepsy (I/GE). We aimed to investigate the prevalence of headache and to cluster patients with regard to their headache and epilepsy features. METHODS: Patients aged 6-40 years, with a definite diagnosis of I/GE, were consecutively enrolled. The patients were interviewed using standardized epilepsy and headache questionnaires, and their headache characteristics were investigated by experts in headache. Demographic and clinical variables were analyzed, and patients were clustered according to their epilepsy and headache characteristics using an unsupervised K-means algorithm. RESULTS: Among 809 patients, 508 (62.8%) reported having any type of headache; 87.4% had interictal headache, and 41.2% had migraine. Cluster analysis revealed two distinct groups for both adults and children/adolescents. In adults, subjects having a family history of headache, ≥5 headache attacks, duration of headache ≥ 24 months, headaches lasting ≥1 h, and visual analog scale scores > 5 were grouped in one cluster, and subjects with juvenile myoclonic epilepsy (JME), myoclonic seizures, and generalized tonic-clonic seizures (GTCS) were clustered in this group (Cluster 1). Self-limited epilepsy with centrotemporal spikes and epilepsy with GTCS alone were clustered in Cluster 2 with the opposite characteristics. For children/adolescents, the same features as in adult Cluster 1 were clustered in a separate group, except for the presence of JME syndrome and GTCS alone as a seizure type. Focal seizures were clustered in another group with the opposite characteristics. In the entire group, the model revealed an additional cluster, including patients with the syndrome of GTCS alone (50.51%), with ≥5 attacks, headache lasting >4 h, and throbbing headache; 65.66% of patients had a family history of headache in this third cluster (n = 99). SIGNIFICANCE: Patients with I/GE can be clustered into distinct groups according to headache features along with seizures. Our findings may help in management and planning for future studies.
Assuntos
Epilepsia Generalizada , Epilepsia Mioclônica Juvenil , Adolescente , Adulto , Criança , Análise por Conglomerados , Estudos de Coortes , Eletroencefalografia , Epilepsia Generalizada/diagnóstico , Cefaleia/epidemiologia , Humanos , ConvulsõesRESUMO
Developmental and Epileptic Encephalopathies (DEEs) are a group of early-onset syndromic disorders characterized by varying degree of intellectual disability, autism spectrum, seizures, and developmental delay. Herein, we have clinically and genetically dissected three siblings from Turkey with DEE born to first cousin unaffected parents. We identified a homozygous pathogenic variant in ELP2 (ENST00000358232.11:c.1385G>A; p.(Arg462Gln)). Our results, together with in depth literature review, underlie the importance of codon encoding the arginine at position 462 as a hotspot for ELP2 related neurological phenotypes.
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Epilepsia , Deficiência Intelectual , Transtornos do Neurodesenvolvimento , Humanos , Irmãos , Transtornos do Neurodesenvolvimento/genética , Convulsões , Fenótipo , Peptídeos e Proteínas de Sinalização Intracelular/genéticaRESUMO
BACKGROUND: Sepsis-associated encephalopathy (SAE) is frequently encountered in sepsis and is often accompanied by neuroimaging findings indicating ischemia, hemorrhage, and edema. Posterior reversible encephalopathy syndrome (PRES) has been vastly underrecognized in previously reported cohorts of patients with sepsis and SAE. Our aim was to determine the prevalence and distinguishing clinical, neuroimaging, and electroencephalography features of PRES in SAE. METHODS: In this prospective observational study, patients with radiologically identified PRES were selected from a consecutively enrolled cohort of 156 patients with SAE and assessed for neurological outcome using the extended Glasgow Outcome Scale for 12 months. Patients with SAE and PRES and other types of brain lesions were compared in terms of clinical and diagnostic workup features. RESULTS: Fourteen of 156 patients (8.9%) were determined to be radiologically compatible with PRES, whereas 48 patients displayed other types of acute brain lesions. Patients with PRES often showed lesions in atypical regions, including frontal lobes, the corpus callosum, and the basal ganglia. Source of infection was mostly gram-negative bacteria originating from pneumonia or intraabdominal infections. Patients with PRES were not different from other patients with SAE with brain lesions in terms of features of sepsis and neurological outcome. However, patients with PRES showed increased prevalence of seizures and intraabdominal source of infection. CONCLUSIONS: PRES is highly prevalent in SAE, often encompasses unusual brain regions, and usually presents with generalized seizures. Patients with SAE and PRES do not appear to have distinguishing clinical and diagnostic workup features. However, generalized seizures may serve as warning signs for presence of PRES in patients with SAE.
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Encefalopatias , Síndrome da Leucoencefalopatia Posterior , Encefalopatia Associada a Sepse , Sepse , Encefalopatias/complicações , Encefalopatias/etiologia , Humanos , Imageamento por Ressonância Magnética , Síndrome da Leucoencefalopatia Posterior/diagnóstico por imagem , Síndrome da Leucoencefalopatia Posterior/epidemiologia , Síndrome da Leucoencefalopatia Posterior/etiologia , Convulsões/diagnóstico , Sepse/complicações , Sepse/epidemiologia , Encefalopatia Associada a Sepse/epidemiologiaRESUMO
Lafora disease (LD) is a severe form of progressive myoclonus epilepsy inherited in an autosomal recessive fashion. It is associated with biallelic pathogenic variations in EPM2A or NHLRC1, which encode laforin and malin, respectively. The disease usually starts with adolescent onset seizures followed by progressive dementia, refractory status epilepticus and eventually death within 10 years of onset. LD is generally accepted as having a homogenous clinical course with no considerable differences between EPM2A or NHLRC1 associated forms. Nevertheless, late-onset and slow progressing forms of the disease have also been reported. Herein, we have performed clinical and genetic analyses of 14 LD patients from 12 different families and identified 8 distinct biallelic variations in these patients. Five of these variations were novel and/or associated with the LD phenotype for the first time. Interestingly, almost half of the cases were homozygous for the rare rs769301934 (NM_198586.3(NHLRC1): c.436 G > A; p.(Asp146Asn)) allele in NHLRC1. A less severe phenotype with an onset at a later age may be the reason for the biased inflation of this variant, which is already present in the human gene pool and can hence arise in the homozygous form in populations with increased parental consanguinity.
Assuntos
Alelos , Estudos de Associação Genética , Predisposição Genética para Doença , Variação Genética , Doença de Lafora/diagnóstico , Doença de Lafora/genética , Ubiquitina-Proteína Ligases/genética , Consanguinidade , Família , Estudos de Associação Genética/métodos , Genótipo , Humanos , Linhagem , Fenótipo , TurquiaRESUMO
OBJECTIVE: Valproate (VPA) use was restricted due to its teratogenic risks in women with epilepsy (WWE). We aimed to assess the outcome and predictors of treatment decisions of withdrawal/switch or continuation of VPA in WWE. METHODS: We included 214 consecutive WWE with a follow-up time of 9.57⯱â¯7.04â¯years, who have used (nâ¯=â¯142) or are still using VPA (nâ¯=â¯72) during their reproductive ages. The demographic, clinical, and electroencephalography (EEG) properties of WWE who could withdraw (successful withdrawal; nâ¯=â¯142) and could not withdraw VPA (unsuccessful withdrawal; nâ¯=â¯36) were compared statistically. RESULTS: The main reasons for still using VPA were high risk of seizure recurrence (63.9%), cognitive impairment (27.8%), and no pregnancy prospect (8.3%). In the successful withdrawal group, 67 (47.1%) patients maintained remission after VPA withdrawal and 26 of them (38.8%) had relapse during the follow-up. The rate of side effects related to the new drugs (levetiracetam and lamotrigine) was 52/142 (36.6%). The unsuccessful withdrawal rate was 13.9% in focal epilepsy whereas it was 86.1% in generalized epilepsy (pâ¯=â¯0.002). Co-occurrence of three types of seizures and anti-seizure medication (ASM)-resistance was related to unsuccessful withdrawal in genetic generalized epilepsy (GGE) (pâ¯=â¯0.02 for both). CONCLUSIONS: Although women with focal epilepsies are more ASM-resistant and more likely to have continuing seizures, they do not usually deteriorate after VPA discontinuation, therefore posing them to teratogenic risk is often unnecessary. In GGE, certain predictors such as previous ASM-resistance and the presence of three seizure types must be taken into account, before a withdrawal attempt of VPA treatment.
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Epilepsia Generalizada , Epilepsia , Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Epilepsia Generalizada/tratamento farmacológico , Feminino , Humanos , Levetiracetam/uso terapêutico , Ácido Valproico/uso terapêuticoRESUMO
AIM: The aim of the present study was to investigate the effect of a brief seminar focusing on medical and social aspects of epilepsy on information acquisition of and attitudes toward epilepsy among medical school students. METHOD: The sample of this pretest-posttest study consisted of 57 fifth-grade medical students. The students participated in a one-hour seminar including medical and social aspects of epilepsy. An epilepsy-related awareness form developed by researchers and also the Epilepsy Attitude Scale were applied to the participants before and after the seminar. RESULTS: It was determined that half of the students (50.9%) encountered an epileptic seizure and 12.3% of them applied first aid. The students had difficulty in describing the seizure type before education. Before education, the rate of describing the seizure was 47.4% for myoclonic seizure, 50.9% for simple partial seizure, and 64.9% for absence seizure, and after education, these rates increased to 82.5% (pâ¯<â¯0.001), 91.2% (pâ¯<â¯0.001), and 98.2% (pâ¯<â¯0.001), respectively. Students generally well described the seizure triggering factors; however, the rate of students reporting the menstrual period as triggering factors were lower (66.7%), and the rates increased after the education (93.0%) (pâ¯=â¯0.001). The percentages of correct answers increased also for the questions regarding seizure first aid. The percentage of students who felt competent for seizure first-aid management increased from 12.3% to 91.2% (pâ¯<â¯0.001) after the education. The correct response rates of students for social aspects of epilepsy was generally high. In our study, attitude toward epilepsy was also evaluated. After the education, a mild increase in the attitude score of students was found (pâ¯=â¯0.009). Although it is minimal, the number of students who marked more positive attitude increased for each item of the Attitude scale. CONCLUSION: Although a lack of acquaintance was found in some areas, awareness of epilepsy in our sample was at a moderate level. This study showed a positive effect of the education given to students on information acquisition and attitude.
Assuntos
Epilepsia , Estudantes de Medicina , Epilepsia/terapia , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Convulsões , Inquéritos e QuestionáriosRESUMO
OBJECTIVE: The objective of the study was to investigate the effects of slow repetitive transcranial magnetic stimulation (rTMS) on patients with refractory juvenile myoclonic epilepsy (JME). METHODS: One thousand pulses with the intensity of 120% active motor threshold (AMT) at 0.2â¯Hz frequency were applied on 5 consecutive days in 10 patients with refractory JME. Sham rTMS was performed after 3â¯months. Electroencephalography (EEG) examinations were performed before rTMS, on the 5th day, and 1, 2, 4, and 8â¯weeks after rTMS. Resting motor threshold (RMT), AMT, and cortical silent periods (CSPs) were recorded before the application and at the end of day 5. The changes in the quality of life were evaluated using the Quality of Life in Epilepsy Inventory (QOLIE-31). RESULTS: No adverse effects were observed. The number of seizures decreased by 29-50%, and interictal discharge durations decreased 2â¯weeks after the real rTMS. No significant difference was observed between the AMT and RMT values recorded before and after the stimulations. Statistically significant increases in CSP duration and quality of life scores were found following real rTMS. Repetitive transcranial magnetic stimulation may be considered as a safe treatment option in refractory JME. CONCLUSION: This study provides some positive evidence that rTMS may be effective in resistant JME.
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Epilepsia Resistente a Medicamentos , Epilepsia Mioclônica Juvenil , Eletroencefalografia , Humanos , Epilepsia Mioclônica Juvenil/terapia , Qualidade de Vida , Estimulação Magnética TranscranianaRESUMO
High-frequency oscillations in local field potentials recorded with intracranial EEG are putative biomarkers of seizure onset zones in epileptic brain. However, localized 80-500 Hz oscillations can also be recorded from normal and non-epileptic cerebral structures. When defined only by rate or frequency, physiological high-frequency oscillations are indistinguishable from pathological ones, which limit their application in epilepsy presurgical planning. We hypothesized that pathological high-frequency oscillations occur in a repetitive fashion with a similar waveform morphology that specifically indicates seizure onset zones. We investigated the waveform patterns of automatically detected high-frequency oscillations in 13 epilepsy patients and five control subjects, with an average of 73 subdural and intracerebral electrodes recorded per patient. The repetitive oscillatory waveforms were identified by using a pipeline of unsupervised machine learning techniques and were then correlated with independently clinician-defined seizure onset zones. Consistently in all patients, the stereotypical high-frequency oscillations with the highest degree of waveform similarity were localized within the seizure onset zones only, whereas the channels generating high-frequency oscillations embedded in random waveforms were found in the functional regions independent from the epileptogenic locations. The repetitive waveform pattern was more evident in fast ripples compared to ripples, suggesting a potential association between waveform repetition and the underlying pathological network. Our findings provided a new tool for the interpretation of pathological high-frequency oscillations that can be efficiently applied to distinguish seizure onset zones from functionally important sites, which is a critical step towards the translation of these signature events into valid clinical biomarkers.awx374media15721572971001.
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Mapeamento Encefálico , Córtex Cerebral/fisiopatologia , Epilepsias Parciais/patologia , Adolescente , Adulto , Criança , Pré-Escolar , Eletrodos Implantados , Eletroencefalografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , PeriodicidadeRESUMO
OBJECTIVE: The long-term follow-up of patients with epilepsy harboring autoantibodies against the glycine receptor (also glycine receptor antibodies or GlyR-Ab) is not well-known. Our aim was to investigate the 5-year prognosis and treatment response of patients with epilepsy who were seropositive for GlyR-Ab. METHODS: Clinical features; electroencephalogram (EEG), neuroradiological, and neuropathological findings; and treatment responses of patients with epilepsy with GlyR-Ab seropositivity were investigated. RESULTS: Thirteen (5.46%) of 238 patients with epilepsy were GlyR-Ab positive: focal epilepsy of unknown cause (FEoUC) was diagnosed in four (7.27%) out of 55 patients, mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) in five (4.5%) out of 111 patients, epileptic encephalopathy (EE) in two (4%) out of 50 patients, and status epilepticus (SE) in two (9.09%) out of 22 patients. None of the patients developed any other neurological symptoms or cancer during the 5-year follow-up. Seven of them had seizures that were resistant to antiepileptic drug (AED). Immunotherapy was used in two patients (with FEoUC and EE) improving seizure control. Three patients with MTLE-HS benefited from epilepsy surgery, and another patient with EE showed spontaneous remission. CONCLUSION: Glycine receptor antibodies are detected in a wide spectrum of epileptic disorders with unclear pathogenic significance. Two GlyR-Ab seropositive patients with AED-resistant epilepsy treated with intravenous immunoglobulin (IVIg) showed clear benefit from immunotherapy. Future studies will be valuable in determining the role of screening patients with drug-resistant epilepsy for GlyR-Ab in order to identify patients who may benefit or respond to immunotherapy.
Assuntos
Autoanticorpos/sangue , Epilepsia/sangue , Epilepsia/tratamento farmacológico , Imunoglobulinas Intravenosas/uso terapêutico , Receptores de Glicina/sangue , Adulto , Biomarcadores/sangue , Epilepsia Resistente a Medicamentos/sangue , Epilepsia Resistente a Medicamentos/tratamento farmacológico , Epilepsia Resistente a Medicamentos/fisiopatologia , Eletroencefalografia/métodos , Epilepsias Parciais/sangue , Epilepsias Parciais/tratamento farmacológico , Epilepsias Parciais/fisiopatologia , Epilepsia/fisiopatologia , Epilepsia do Lobo Temporal/sangue , Epilepsia do Lobo Temporal/tratamento farmacológico , Epilepsia do Lobo Temporal/fisiopatologia , Feminino , Seguimentos , Células HEK293 , Humanos , Masculino , Pessoa de Meia-Idade , Estado Epiléptico/sangue , Estado Epiléptico/tratamento farmacológico , Estado Epiléptico/fisiopatologia , Adulto JovemRESUMO
OBJECTIVE: Our aim is to assess the types and frequency of seizure-related injuries and to determine their effects on Quality of Life (QoL). METHODS: Fifty-seven patients with epilepsy were included to our study. The demographic and clinical data of all the participants were recorded. All patients completed the Quality of Life in Epilepsy Inventory 89 (QOLIE-89). Injury types were classified as burns, head trauma, dental traumas, fractures, body injuries, penetrating traumas, road injuries, and drowning. RESULTS: Forty-two patients had seizure-related physical injury history whereas 15 of them declared no history of injury. Lower education levels and more frequent seizures were associated with higher seizure-related injury rates (p < 0.05). The most common types of seizure-related injuries were head trauma (22%) and fractures (17%). Fifty-seven (64%)of the injuries took place at home. There was no difference in QOLIE-89 scores between patients with or without seizure-related injury. Multiple injuries, admission to emergency, older than 20 years of the first seizure-related injury, and shorter than 10 years after last seizure-related injury are negatively effective on the QoL scores. CONCLUSION: Patients with epilepsy are likely to have seizure-related injuries which may be severe but do not affect the patients' QoL. Seizure-related injuries most commonly occur at home and therefore simple precautions (supervised bathing, using microwave ovens instead of classical stoves, avoiding electric irons and electric heaters, and sleeping close to the floor to avoid falling) taken to reduce the incidence of seizure-related injuries will help reduce hospitalizations and will also be cost-effective.
Assuntos
Qualidade de Vida/psicologia , Convulsões/complicações , Convulsões/psicologia , Ferimentos e Lesões/etiologia , Acidentes por Quedas , Adulto , Queimaduras , Traumatismos Craniocerebrais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Dor/etiologia , Índice de Gravidade de Doença , Adulto JovemRESUMO
PURPOSE: Epilepsy not only is a medical disorder characterized by seizures, but is also associated with stigma and a neurological disorder that affects quality of life. Insufficient knowledge and misconceptions about epilepsy that causes the development of negative attitudes towards patients with epilepsy increase the stigmatization and psychosocial problems and impact the quality of life. The aim of this study was to examine the relationship between epilepsy knowledge, attitude, stigma, anxiety and depression, and quality of life within the framework of structural equation modeling. METHOD: This research was carried out between May 2015 and May 2016 at the Epilepsy Outpatient Clinic of Istanbul University Istanbul Faculty of Medicine. The Epilepsy Knowledge Scale, Epilepsy Attitude Scale, Stigma Scale, Hospital Anxiety and Depression Scale, and Quality of Life in Epilepsy Scale-10 (QOLIE-10) were used. To determine the relationship between the concepts, research hypotheses were created, and structural equation modeling was made. RESULTS: Two hundred five patients were included in the study, 53.7% were women, and the mean age was 32.5. It was found that 72.2% had generalized seizures, and 46.3% had more than one seizure per month. According to our proposed model, knowledge had a moderate relationship with attitude (including stigma) (râ¯=â¯0.50) that, in turn, had a strong relationship with mental health (râ¯=â¯-0.62) while a moderate relationship with quality of life (râ¯=â¯0.45). Our findings revealed that proposed model accounted for 20% of the variance in quality of life and 39% of the variance in mental health (anxiety and depression). CONCLUSION: Mental health and quality of life of patient with epilepsy are closely related to the knowledge, attitude, and perceived stigma of the patients. Therefore, educating/supporting patients can help increase the mental health and quality of life.
Assuntos
Ansiedade/psicologia , Depressão/psicologia , Epilepsia/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Análise de Classes Latentes , Qualidade de Vida/psicologia , Estigma Social , Adolescente , Adulto , Idoso , Ansiedade/diagnóstico , Ansiedade/epidemiologia , Depressão/diagnóstico , Depressão/epidemiologia , Epilepsia/diagnóstico , Epilepsia/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
OBJECTIVE: Phenylketonuria (PKU) is the most common form of amino acid metabolism disorders with autosomal recessive inheritance. The brain damage can be prevented by early diagnosis and a phenylalanine-restricted diet. Untreated or late-treated patients may show mental retardation and other cognitive dysfunctions, as well as motor disability and/or epilepsy. METHODS: Three patients with PKU and epilepsy were recognized to have reflex epileptic features, and there were ten consecutive adult patients with PKU and epilepsy who were evaluated retrospectively. Medical history, ages at diagnosis and therapy onset, age at seizure onset, seizure types and reflex features, neurological findings, cranial imaging, electroencephalography (EEG) findings, and final clinical condition were evaluated. Reflex epilepsy features were examined in detail. RESULTS: The cases (6 females, 4 males) were diagnosed at ages between 3.5months and 12years. All patients had various degrees of mental-motor retardation and focal or generalized seizures with age at seizure onset varied between neonatal period and 15years. Three patients had febrile seizure, 3 patients had myoclonia, and 3 patients had status epilepticus. All patients had abnormal EEG findings except one. There was a slowing of background activity, and generalized discharges were observed in 7 patients; 3 of them had asymmetrical discharges. One patient had right hippocampal sclerosis (HS), and another patient had hypointensities in the basal ganglia and corpus callosum. Reflex features were clinically observed in 3 of the patients; however, EEG results did not show any related findings. One patient had reflex seizures triggered by photic stimuli, hot water, and startling; one by photic stimuli; and the other one by startling. CONCLUSION: Reports on the clinical and electrophysiological features of adult patients with PKU were scant. We emphasized that reflex clinical features may be observed in this metabolic disease, and focal epileptiform abnormalities and asymmetry may be present in electrophysiological evaluation besides the rare association with HS.
Assuntos
Eletroencefalografia , Epilepsia Reflexa/diagnóstico por imagem , Epilepsia Reflexa/fisiopatologia , Fenilcetonúrias/diagnóstico por imagem , Fenilcetonúrias/fisiopatologia , Adolescente , Adulto , Criança , Pré-Escolar , Eletroencefalografia/métodos , Epilepsia Reflexa/complicações , Feminino , Humanos , Lactente , Masculino , Fenilcetonúrias/complicações , Estudos Retrospectivos , Adulto JovemRESUMO
OBJECTIVE: The objective of this study was to investigate unusual ictal propagation patterns in patients with drug-resistant temporal lobe epilepsy (TLE) and reveal their electrophysiological, neuroimaging, and prognostic properties after surgery. METHODS: Among 248 patients with TLE who underwent scalp video-electroencephalographic (EEG) monitoring, 24 patients with 'switch of lateralization' or 'bilateral asynchrony' in at least one of their seizures (9.3%) were analyzed retrospectively. The postoperative outcome was determined in 16 patients who had undergone epilepsy surgery. RESULTS: All but 5 of the included patients had hippocampal sclerosis (HS) as their magnetic resonance imaging (MRI) findings. Twelve out of 16 patients (75%) who had surgery were seizure-free for at least 1â¯year. Nine out of 12 patients (75%) with good outcome had unilateral interictal EEG discharges in temporal regions whereas 3 out of 4 patients with poor outcome had bilateral temporal interictal spiking (pâ¯=â¯0.018). CONCLUSION: Unusual ictal propagation patterns are not always related to poor prognosis after surgery in patients with TLE. Patients with unilateral interictal spiking in the temporal region tend to have good outcome despite these unusual patterns. These patterns can also be seen in patients with TLE with other etiologies besides the well-known HS in MRI.