Goichiro Tamura, W. Lo, I. Yau, Kerry A. Vaughan, C. Go, W. Singleton, David Hazon, Han Yan, H. Otsubo, E. Donner, J. Rutka, G. Ibrahim
Abstract Clinical responses to vagus nerve stimulation (VNS) therapy for intractable epilepsy can be unpredictable, and factors that predict response to therapy are elusive. Minority of children undergoing VNS achieve seizure freedom. The current study aimed to characterize this exceptional patient population, defined as “super-responders” (SRs). Retrospective data were collected from 150 children who underwent VNS at a single pediatric institution. The patients' mean age at VNS device implantation was 12.0 years (range, 3.09–17.9 years). Ten SRs (6.7%) were identified who achieved and maintained seizure freedom for longer than 1 year following implantation. The interval between epilepsy onset and VNS device implantation was significantly shorter in SRs than in the other children (mean epilepsy duration 5.72 vs. 8.44 years, respectively; p = 0.032). SRs also had a significantly shorter proportion of life with epilepsy compared with the other children (mean ratio of epilepsy duration to age at implantation 0.52 vs. 0.71, respectively; p = 0.023). SRs reported their seizure freedom relatively early (six patients within 6 months and all patients within 12 months after implantation) at relatively low device settings (mean output current 0.81 mA at their last follow-up). Compared with conventional models, responsive VNS models with autostimulation features did not increase the ratio of SRs. No other clinical or imaging characteristic difference between SRs and the other children was found in this cohort. The current study showed a significant association between shorter epilepsy duration and shorter proportion of life with epilepsy and seizure freedom after VNS.
{"title":"Patient Characteristics Associated with Seizure Freedom after Vagus Nerve Stimulation in Pediatric Intractable Epilepsy: An Analysis of “Super-Responders”","authors":"Goichiro Tamura, W. Lo, I. Yau, Kerry A. Vaughan, C. Go, W. Singleton, David Hazon, Han Yan, H. Otsubo, E. Donner, J. Rutka, G. Ibrahim","doi":"10.1055/s-0041-1739489","DOIUrl":"https://doi.org/10.1055/s-0041-1739489","url":null,"abstract":"Abstract Clinical responses to vagus nerve stimulation (VNS) therapy for intractable epilepsy can be unpredictable, and factors that predict response to therapy are elusive. Minority of children undergoing VNS achieve seizure freedom. The current study aimed to characterize this exceptional patient population, defined as “super-responders” (SRs). Retrospective data were collected from 150 children who underwent VNS at a single pediatric institution. The patients' mean age at VNS device implantation was 12.0 years (range, 3.09–17.9 years). Ten SRs (6.7%) were identified who achieved and maintained seizure freedom for longer than 1 year following implantation. The interval between epilepsy onset and VNS device implantation was significantly shorter in SRs than in the other children (mean epilepsy duration 5.72 vs. 8.44 years, respectively; p = 0.032). SRs also had a significantly shorter proportion of life with epilepsy compared with the other children (mean ratio of epilepsy duration to age at implantation 0.52 vs. 0.71, respectively; p = 0.023). SRs reported their seizure freedom relatively early (six patients within 6 months and all patients within 12 months after implantation) at relatively low device settings (mean output current 0.81 mA at their last follow-up). Compared with conventional models, responsive VNS models with autostimulation features did not increase the ratio of SRs. No other clinical or imaging characteristic difference between SRs and the other children was found in this cohort. The current study showed a significant association between shorter epilepsy duration and shorter proportion of life with epilepsy and seizure freedom after VNS.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"60 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2021-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80889213","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract It has been known for several decades that epilepsy and autism spectrum disorders (ASD) are related to each other. Epilepsy frequently accompanies ASD. The purpose of this study was to investigate relationship between clinical and electroencephalogram (EEG) findings in ASD patients and to identify EEG characteristics that may create a disposition to epilepsy in ASD by examining differences in clinical and EEG findings between patients diagnosed with ASD without epilepsy and ASD with epilepsy. A total of 102 patients aged 2 to 18 years and diagnosed with ASD based on Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5) diagnostic criteria between January 2017 and June 2019 were included in the study. Patients were assigned into two groups: (1) ASD with epilepsy and (2) ASD without epilepsy. Clinical findings were retrieved from patients' files, and EEG findings from first EEG records in the EEG laboratory at the time of diagnosis. EEG findings were defined as central, parietal, frontal, temporal, or generalized, depending on the location of rhythmic discharges. The incidence of epilepsy in our ASD patients was 33.7% and that of febrile convulsion was 4%. Generalized motor seizures were the most common seizure type. Epileptic discharges most commonly derived from the central and frontal regions. These abnormalities, especially frontal and central rhythmic discharges, may represent a precursor for the development of epilepsy in ASD patients.
{"title":"Electroencephalogram Abnormalities and Epilepsy in Autism Spectrum Disorders: Clinical and Electroencephalogram Findings","authors":"Fatma Hancı, Sevim Türay, Y. Öztürk, N. Kabakuş","doi":"10.1055/s-0041-1736557","DOIUrl":"https://doi.org/10.1055/s-0041-1736557","url":null,"abstract":"Abstract It has been known for several decades that epilepsy and autism spectrum disorders (ASD) are related to each other. Epilepsy frequently accompanies ASD. The purpose of this study was to investigate relationship between clinical and electroencephalogram (EEG) findings in ASD patients and to identify EEG characteristics that may create a disposition to epilepsy in ASD by examining differences in clinical and EEG findings between patients diagnosed with ASD without epilepsy and ASD with epilepsy. A total of 102 patients aged 2 to 18 years and diagnosed with ASD based on Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5) diagnostic criteria between January 2017 and June 2019 were included in the study. Patients were assigned into two groups: (1) ASD with epilepsy and (2) ASD without epilepsy. Clinical findings were retrieved from patients' files, and EEG findings from first EEG records in the EEG laboratory at the time of diagnosis. EEG findings were defined as central, parietal, frontal, temporal, or generalized, depending on the location of rhythmic discharges. The incidence of epilepsy in our ASD patients was 33.7% and that of febrile convulsion was 4%. Generalized motor seizures were the most common seizure type. Epileptic discharges most commonly derived from the central and frontal regions. These abnormalities, especially frontal and central rhythmic discharges, may represent a precursor for the development of epilepsy in ASD patients.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"407 9","pages":""},"PeriodicalIF":0.2,"publicationDate":"2021-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72448293","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
K. Kchaou, I. Kammoun, S. Chakroun, A. Haddar, K. Masmoudi
Abstract The objective of this study was to identify clinical parameters predicting either a pathological EEG or a subsequent epileptic seizure (SES), based on the relation between paroxysmal EEG abnormalities and clinical features in children who presented at least one febrile seizure (FS). We collected data of children who presented to our department during the period 2013 to 2018 for EEG recording as part of their febrile seizure assessment. Only children aged between 1 month to 5 years were included. Both the clinical and EEG data were retrospectively collected and statistically studied. We performed a detailed analysis of the EEG recordings. SES was identified for patients with sufficient follow-up. A total of 120 children were included in the study, of whom 48% had EEG abnormalities. Psychomotor retardation (p = 0.002), completion of an EEG within 7 days of the last FS (p = 0.046), and late age (> 3 years) of the first FS onset (p = 0.021) were significantly associated with a pathological EEG. In multivariate analysis, performing early EEG (< 7 days from the last FS) (odds ratio [OR]: 2.35; p = 0.043; confidence interval [CI]: 1.028–5.375) and psychomotor retardation (OR: 4.19; p = 0.008; CI: 1.46–12) were independent predictors of a pathological EEG. Of 120 patients, 45 had a follow-up. However, only 10 (22.22%) had SES. Children with SES tended more to have a psychomotor delay, compared with children without SES (50% vs. 14.28%, p = 0.029). Moreover, the percentage of initial abnormal EEG in patients with SES was significantly higher than those without SES (70% vs. 34.28%, p = 0.05). Even though some FS characteristics predict EEG abnormalities, they are not always associated with SES. We highlight the importance of performing an EEG in the group of children who had both FS and psychomotor retardation. This is most likely the group at the highest risk of developing epilepsy.
摘要:本研究的目的是根据至少出现一次发热性癫痫发作(FS)的儿童阵发性脑电图异常与临床特征之间的关系，确定预测病理性脑电图或随后癫痫发作(SES)的临床参数。我们收集了2013年至2018年期间到我科就诊的儿童的数据，用于脑电图记录，作为其热性癫痫发作评估的一部分。仅包括1个月至5岁的儿童。回顾性收集临床和脑电图资料并进行统计学分析。我们对脑电图记录进行了详细分析。对随访充分的患者进行SES鉴定。本研究共纳入120名儿童，其中48%存在脑电图异常。精神运动迟缓(p = 0.002)、最后一次FS发生后7天内完成脑电图(p = 0.046)和首次FS发病的年龄较晚(p = 0.021)与病理性脑电图显著相关。在多变量分析中，早期EEG(距离最后一次FS < 7天)(优势比[OR]: 2.35;p = 0.043;置信区间[CI]: 1.028-5.375)和精神运动迟缓(OR: 4.19;p = 0.008;CI: 1.46-12)是病理性脑电图的独立预测因子。在120名患者中，有45人进行了随访。然而，只有10人(22.22%)患有SES。与非SES儿童相比，SES儿童更倾向于出现精神运动延迟(50% vs. 14.28%， p = 0.029)。有SES的患者初始脑电图异常比例显著高于无SES的患者(70% vs. 34.28%， p = 0.05)。尽管一些FS特征可以预测脑电图异常，但它们并不总是与SES相关。我们强调在患有FS和精神运动迟缓的儿童中进行脑电图的重要性。这很可能是患癫痫风险最高的人群。
{"title":"Clinical Predictive Factors of Pathological EEG in Children with Febrile Seizures and Their Association with Subsequent Epileptic Seizures","authors":"K. Kchaou, I. Kammoun, S. Chakroun, A. Haddar, K. Masmoudi","doi":"10.1055/s-0041-1736214","DOIUrl":"https://doi.org/10.1055/s-0041-1736214","url":null,"abstract":"Abstract The objective of this study was to identify clinical parameters predicting either a pathological EEG or a subsequent epileptic seizure (SES), based on the relation between paroxysmal EEG abnormalities and clinical features in children who presented at least one febrile seizure (FS). We collected data of children who presented to our department during the period 2013 to 2018 for EEG recording as part of their febrile seizure assessment. Only children aged between 1 month to 5 years were included. Both the clinical and EEG data were retrospectively collected and statistically studied. We performed a detailed analysis of the EEG recordings. SES was identified for patients with sufficient follow-up. A total of 120 children were included in the study, of whom 48% had EEG abnormalities. Psychomotor retardation (p = 0.002), completion of an EEG within 7 days of the last FS (p = 0.046), and late age (> 3 years) of the first FS onset (p = 0.021) were significantly associated with a pathological EEG. In multivariate analysis, performing early EEG (< 7 days from the last FS) (odds ratio [OR]: 2.35; p = 0.043; confidence interval [CI]: 1.028–5.375) and psychomotor retardation (OR: 4.19; p = 0.008; CI: 1.46–12) were independent predictors of a pathological EEG. Of 120 patients, 45 had a follow-up. However, only 10 (22.22%) had SES. Children with SES tended more to have a psychomotor delay, compared with children without SES (50% vs. 14.28%, p = 0.029). Moreover, the percentage of initial abnormal EEG in patients with SES was significantly higher than those without SES (70% vs. 34.28%, p = 0.05). Even though some FS characteristics predict EEG abnormalities, they are not always associated with SES. We highlight the importance of performing an EEG in the group of children who had both FS and psychomotor retardation. This is most likely the group at the highest risk of developing epilepsy.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"30 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2021-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76945787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Febrile seizure (FS) is the most common convulsive disorder in children with FS prevalence in Indonesia reaching 2 to 4% in 2008. Although this entity has a good prognosis, it often brings panic, fear, and anxiety to the parents. This seemingly benign condition might lead to changes in family structures resulting in adverse effects on the family's daily lives and affect their overall quality of life (QoL). This study evaluates the QoL of parents whose children have FS. A cross-sectional study done in 47 parents whose children had a FS between ages 1 and 4 years from January 2020 to May 2020 and who were evaluated at the Siloam General Hospital, Lippo Village. Parents were asked to fill in Pediatric Quality of Life Questionnaire parent proxy. Data normality was analyzed using the Shapiro–Wilk's test and the significant impact of parents' QoL using the chi-square and independent t-tests. From a total of 47 parents, 30 (63.8%) parents had children with simple FS and 17 (36.2%) parents had children with complex FS. Parents whose children were in the age group of 1 year to 1 year 11 months had the best mean score of 79.64 (12.17) compared with other age groups. In the subset of 3 to 4 years old, the daily activities domain was significantly affected (p-value = 0.3). Parents with a lower educational level had a higher mean score of 76.53 (14.42) than parents who had a higher educational level, with a total mean of 79.88 (11.85), particularly with the highest mean score of 100 in the communication domain. The occurrence of FSs in children affected their parents' QoL in almost all domains in the Pediatric Quality of Life Inventory questionnaire.
{"title":"Assessment of Parental Quality of Life in Febrile Seizures Using Pediatric Quality of Live Inventory Parental Report","authors":"G. Octavius, Cindy Virliani, A. Juliansen","doi":"10.1055/s-0041-1733954","DOIUrl":"https://doi.org/10.1055/s-0041-1733954","url":null,"abstract":"Abstract Febrile seizure (FS) is the most common convulsive disorder in children with FS prevalence in Indonesia reaching 2 to 4% in 2008. Although this entity has a good prognosis, it often brings panic, fear, and anxiety to the parents. This seemingly benign condition might lead to changes in family structures resulting in adverse effects on the family's daily lives and affect their overall quality of life (QoL). This study evaluates the QoL of parents whose children have FS. A cross-sectional study done in 47 parents whose children had a FS between ages 1 and 4 years from January 2020 to May 2020 and who were evaluated at the Siloam General Hospital, Lippo Village. Parents were asked to fill in Pediatric Quality of Life Questionnaire parent proxy. Data normality was analyzed using the Shapiro–Wilk's test and the significant impact of parents' QoL using the chi-square and independent t-tests. From a total of 47 parents, 30 (63.8%) parents had children with simple FS and 17 (36.2%) parents had children with complex FS. Parents whose children were in the age group of 1 year to 1 year 11 months had the best mean score of 79.64 (12.17) compared with other age groups. In the subset of 3 to 4 years old, the daily activities domain was significantly affected (p-value = 0.3). Parents with a lower educational level had a higher mean score of 76.53 (14.42) than parents who had a higher educational level, with a total mean of 79.88 (11.85), particularly with the highest mean score of 100 in the communication domain. The occurrence of FSs in children affected their parents' QoL in almost all domains in the Pediatric Quality of Life Inventory questionnaire.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"60 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90271117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Although clinical judgement and sedation scales are primarily used in intensive care units (ICUs) to manage sedation, adjunctive data are needed to direct therapy with sedative and hypnotic agents to prevent side effects and long-term sequelae. In this report, we describe three cases where we used quantitative electroencephalogram (qEEG) data in a pediatric ICU (PICU); to manage these specific clinical situations and to identify the limitations of the qEEG data, two patients were admitted for post–cardiac arrest care and the third was admitted for status epilepticus. In post–cardiac arrest patients, qEEG was mainly used for monitoring depth of sedation and drug titration. Unnecessary use of high-drug doses was prevented, and monitoring also helped to guide clinical intervention for the management of seizure activity. In the patient with status epilepticus, qEEG data on burst suppression and depth of sedation were used. In this report, we describe three different cases where we used qEEG data in a PICU, to give insight on the use of data in specific clinical situations and to describe the limitations of the qEEG data monitoring system.
{"title":"Quantitative Electroencephalogram in Pediatric Intensive Care Unit in Three Different Clinical Scenarios","authors":"A. Yetimakman, E. Kıral","doi":"10.1055/s-0041-1733858","DOIUrl":"https://doi.org/10.1055/s-0041-1733858","url":null,"abstract":"Abstract Although clinical judgement and sedation scales are primarily used in intensive care units (ICUs) to manage sedation, adjunctive data are needed to direct therapy with sedative and hypnotic agents to prevent side effects and long-term sequelae. In this report, we describe three cases where we used quantitative electroencephalogram (qEEG) data in a pediatric ICU (PICU); to manage these specific clinical situations and to identify the limitations of the qEEG data, two patients were admitted for post–cardiac arrest care and the third was admitted for status epilepticus. In post–cardiac arrest patients, qEEG was mainly used for monitoring depth of sedation and drug titration. Unnecessary use of high-drug doses was prevented, and monitoring also helped to guide clinical intervention for the management of seizure activity. In the patient with status epilepticus, qEEG data on burst suppression and depth of sedation were used. In this report, we describe three different cases where we used qEEG data in a PICU, to give insight on the use of data in specific clinical situations and to describe the limitations of the qEEG data monitoring system.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"34 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2021-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74969195","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract The neutrophil-to-lymphocyte ratio (NLR), red blood cell distribution width (RDW), platelet count (PLT), and mean platelet volume (MPV)/platelet ratio (MPR) are commonly known inflammatory markers measured by a routine peripheral blood test that have been studied in patients with febrile seizures (FS) and may be useful for the classification of FS types. The aim of this study was to investigate the relationship between FS and inflammatory markers including MPR, RDW, and NLR and also to determine the diagnostic ability of these parameters to identify FS by comparing patients with and without FS, and by comparing patients with FS to their FS types (simple febrile seizure or complex febrile seizure [SFS or CFS]). The study included a total of 537 children aged 6 to 60 months who presented to the emergency service with FS. The FS group was divided into two subgroups based on the type of seizure, SFS, and CFS. MPR, NLR, and RDW predicted a 1.7 (odds ratio [OR], 95% confidence interval [CI]: 1.19–2.45), 1.94 (OR, 95% CI: 1.35–2.79), and 1.8 (OR, 95% CI: 1.25–2.59) times higher risk of FS, respectively. NLR and RDW predicted a 2.64 (OR, 95% CI: 1.17–4.85) and 2.34 (OR, 95% CI: 1.14–4.44) times higher risk of recurrent SFS, respectively. In patients with CFS, NLR ≥ 1.806 had a 3.64 times (OR, 95% CI: 1.83–7.21) and RDW ≥14.55 had a 3.34 times (OR, 95% CI: 1.67–6.65) higher risk of recurrent FS. The results indicated that MPV, NLR, and RDW differentiated not only SFS from CFS but also FS from fever without seizure. The increase in RDW and NLR values and their diagnostic values in patients with recurrent FS and the diagnostic value of these parameters in predicting CFS suggest that NLR and RDW could be effective, practical, and discriminative predictors of FS.
{"title":"The Role of Neutrophil-to-Lymphocyte Ratio, Red Blood Cell Distribution Width, and Mean Platelet Volume in Predicting Febrile Seizures and Differentiating Febrile Seizure Types","authors":"Beril Dilber, G. P. Reis, C. C. Kolaylı, A. Cansu","doi":"10.1055/s-0041-1733904","DOIUrl":"https://doi.org/10.1055/s-0041-1733904","url":null,"abstract":"Abstract The neutrophil-to-lymphocyte ratio (NLR), red blood cell distribution width (RDW), platelet count (PLT), and mean platelet volume (MPV)/platelet ratio (MPR) are commonly known inflammatory markers measured by a routine peripheral blood test that have been studied in patients with febrile seizures (FS) and may be useful for the classification of FS types. The aim of this study was to investigate the relationship between FS and inflammatory markers including MPR, RDW, and NLR and also to determine the diagnostic ability of these parameters to identify FS by comparing patients with and without FS, and by comparing patients with FS to their FS types (simple febrile seizure or complex febrile seizure [SFS or CFS]). The study included a total of 537 children aged 6 to 60 months who presented to the emergency service with FS. The FS group was divided into two subgroups based on the type of seizure, SFS, and CFS. MPR, NLR, and RDW predicted a 1.7 (odds ratio [OR], 95% confidence interval [CI]: 1.19–2.45), 1.94 (OR, 95% CI: 1.35–2.79), and 1.8 (OR, 95% CI: 1.25–2.59) times higher risk of FS, respectively. NLR and RDW predicted a 2.64 (OR, 95% CI: 1.17–4.85) and 2.34 (OR, 95% CI: 1.14–4.44) times higher risk of recurrent SFS, respectively. In patients with CFS, NLR ≥ 1.806 had a 3.64 times (OR, 95% CI: 1.83–7.21) and RDW ≥14.55 had a 3.34 times (OR, 95% CI: 1.67–6.65) higher risk of recurrent FS. The results indicated that MPV, NLR, and RDW differentiated not only SFS from CFS but also FS from fever without seizure. The increase in RDW and NLR values and their diagnostic values in patients with recurrent FS and the diagnostic value of these parameters in predicting CFS suggest that NLR and RDW could be effective, practical, and discriminative predictors of FS.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"65 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2021-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82913969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Electrical status epilepticus during sleep (ESES) is an age-related, self-limited epileptic encephalopathy characterized by heterogeneous clinical manifestations and a specific electroencephalographic pattern of continuous spikes and waves during slow sleep. The etiology of ESES is not completely clear, although structural brain lesions, abnormal immunological markers, and genetic mutations have been associated with the syndrome. ESES was first described in 1971 and since then, the diagnostic criteria have changed multiple times. Additionally, inconsistency between authors in how to record and evaluate the electroencephalogram also leads to variability between studies. These inconsistencies hamper objectivity, comparison, and generalization. Because of this, one of the first priorities of physicians treating this condition should be defining the parameters of this disease so that cooperative building can occur.
{"title":"Electrical Status Epilepticus during Sleep and Evaluating the Electroencephalogram","authors":"Michael Drees, Neil Kulkarni, J. Vidaurre","doi":"10.1055/s-0041-1731412","DOIUrl":"https://doi.org/10.1055/s-0041-1731412","url":null,"abstract":"Abstract Electrical status epilepticus during sleep (ESES) is an age-related, self-limited epileptic encephalopathy characterized by heterogeneous clinical manifestations and a specific electroencephalographic pattern of continuous spikes and waves during slow sleep. The etiology of ESES is not completely clear, although structural brain lesions, abnormal immunological markers, and genetic mutations have been associated with the syndrome. ESES was first described in 1971 and since then, the diagnostic criteria have changed multiple times. Additionally, inconsistency between authors in how to record and evaluate the electroencephalogram also leads to variability between studies. These inconsistencies hamper objectivity, comparison, and generalization. Because of this, one of the first priorities of physicians treating this condition should be defining the parameters of this disease so that cooperative building can occur.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"75 1","pages":"141 - 146"},"PeriodicalIF":0.2,"publicationDate":"2021-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79260085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Evan Jiang, M. Fitzgerald, K. Helbig, Ethan M. Goldberg
Abstract Interleukin-1 receptor accessory protein-like 1 (IL1RAPL1) encodes a protein that is highly expressed in neurons and has been shown to regulate neurite outgrowth as well as synapse formation and synaptic transmission. Clinically, mutations in or deletions of IL1RAPL1 have been associated with a spectrum of neurological dysfunction including autism spectrum disorder and nonsyndromic X-linked developmental delay/intellectual disability of varying severity. Nearly all reported cases are in males; in the few reported cases involving females, the clinical presentation was mild or the deletion was identified in phenotypically normal carriers in accordance with X-linked inheritance. Using genome-wide microarray analysis, we identified a novel de novo 373 kb interstitial deletion of the X chromosome (Xp21.1-p21.2) that includes exons 4 to 6 of the IL1RAPL1 gene in an 8-year-old girl with severe intellectual disability and behavioral disorder with a history of developmental regression. Overnight continuous video electroencephalography revealed electrical status epilepticus in sleep (ESES). This case expands the clinical genetic spectrum of IL1RAPL1-related neurodevelopmental disorders and highlights a new genetic association of ESES.
{"title":"IL1RAPL1 Gene Deletion in a Female Patient with Developmental Delay and Continuous Spike-Wave during Sleep","authors":"Evan Jiang, M. Fitzgerald, K. Helbig, Ethan M. Goldberg","doi":"10.1055/s-0041-1731816","DOIUrl":"https://doi.org/10.1055/s-0041-1731816","url":null,"abstract":"Abstract Interleukin-1 receptor accessory protein-like 1 (IL1RAPL1) encodes a protein that is highly expressed in neurons and has been shown to regulate neurite outgrowth as well as synapse formation and synaptic transmission. Clinically, mutations in or deletions of IL1RAPL1 have been associated with a spectrum of neurological dysfunction including autism spectrum disorder and nonsyndromic X-linked developmental delay/intellectual disability of varying severity. Nearly all reported cases are in males; in the few reported cases involving females, the clinical presentation was mild or the deletion was identified in phenotypically normal carriers in accordance with X-linked inheritance. Using genome-wide microarray analysis, we identified a novel de novo 373 kb interstitial deletion of the X chromosome (Xp21.1-p21.2) that includes exons 4 to 6 of the IL1RAPL1 gene in an 8-year-old girl with severe intellectual disability and behavioral disorder with a history of developmental regression. Overnight continuous video electroencephalography revealed electrical status epilepticus in sleep (ESES). This case expands the clinical genetic spectrum of IL1RAPL1-related neurodevelopmental disorders and highlights a new genetic association of ESES.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"79 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2021-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80146496","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
G. Octavius, Tan G. H. Handoko, C. L. Budiputri, M. Muljono, A. Juliansen
Abstract Febrile seizure (FS) is one of the most common pediatric neurologic disorders, affecting 2 to 5% of children between 6 months and 5 years. In 2008 to 2010, almost half of children with FS in Indonesia experienced recurrences. Various factors have been related to potential predictors for FS recurrence. However, available data reported inconsistent results. Considering its high recurrence rate, this study aimed to determine and assess the factors predicting the recurrence of FS. A cross-sectional study was done in Siloam General Hospital, Lippo Village. The study period was from December 2018 to December 2019, and data were obtained through medical records. Out of 60 participants, 41.7% had recurrent FS. No administration of rectal diazepam before admission (odds ratio [OR] = 6.42; 95% confidence interval [CI]: 1.20–34.2, p = 0.027) was a predictive factor of recurrent FS, while female sex (OR = 0.23; 95% CI: 0.64–0.80, p = 0.025) and shorter duration of the first FS (OR = 0.21; 95% CI 0.06–0.69, p = 0.008) were protective factors of recurrent FS. Identification of factors predicting the recurrence of FS is a powerful tool for clinicians. This study showed that no administration of rectal diazepam before admission was correlated with the risk of FS recurrence, while shorter duration of FS and female sex were protective factors of recurrent FS.
热性惊厥(FS)是最常见的儿童神经系统疾病之一，影响2 - 5%的6个月至5岁儿童。在2008年至2010年期间，印度尼西亚几乎有一半患有FS的儿童复发。各种因素与FS复发的潜在预测因素有关。然而，现有数据报告的结果不一致。考虑到FS的高复发率，本研究旨在确定和评估预测FS复发的因素。横断面研究在力宝村西罗亚总医院进行。研究时间为2018年12月至2019年12月，数据通过病历获取。60名参与者中，41.7%有复发性FS。入院前未直肠给予安定(优势比[OR] = 6.42;95%可信区间[CI]: 1.20 ~ 34.2, p = 0.027)是FS复发的预测因素，而女性(OR = 0.23;95% CI: 0.64-0.80, p = 0.025)，第一次FS持续时间较短(OR = 0.21;95% CI 0.06 ~ 0.69, p = 0.008)是FS复发的保护因素。识别预测FS复发的因素是临床医生的有力工具。本研究显示，入院前未使用直肠安定与FS复发风险相关，而FS持续时间较短和女性是FS复发的保护因素。
{"title":"Factors Predicting the Recurrence of Febrile Seizure in Siloam General Hospital: A Descriptive Analysis","authors":"G. Octavius, Tan G. H. Handoko, C. L. Budiputri, M. Muljono, A. Juliansen","doi":"10.1055/s-0041-1731037","DOIUrl":"https://doi.org/10.1055/s-0041-1731037","url":null,"abstract":"Abstract Febrile seizure (FS) is one of the most common pediatric neurologic disorders, affecting 2 to 5% of children between 6 months and 5 years. In 2008 to 2010, almost half of children with FS in Indonesia experienced recurrences. Various factors have been related to potential predictors for FS recurrence. However, available data reported inconsistent results. Considering its high recurrence rate, this study aimed to determine and assess the factors predicting the recurrence of FS. A cross-sectional study was done in Siloam General Hospital, Lippo Village. The study period was from December 2018 to December 2019, and data were obtained through medical records. Out of 60 participants, 41.7% had recurrent FS. No administration of rectal diazepam before admission (odds ratio [OR] = 6.42; 95% confidence interval [CI]: 1.20–34.2, p = 0.027) was a predictive factor of recurrent FS, while female sex (OR = 0.23; 95% CI: 0.64–0.80, p = 0.025) and shorter duration of the first FS (OR = 0.21; 95% CI 0.06–0.69, p = 0.008) were protective factors of recurrent FS. Identification of factors predicting the recurrence of FS is a powerful tool for clinicians. This study showed that no administration of rectal diazepam before admission was correlated with the risk of FS recurrence, while shorter duration of FS and female sex were protective factors of recurrent FS.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"216 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2021-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79625129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
R. Mishra, Sunita Bijarnia-Mahay, Praveen Kumar, T. Buxi, S. Kulshrestha, J. Kuldeep, D. Gupta, Renu Saxena, R. Sabharwal
Abstract Epileptic seizures are a frequent feature of thiamine transporter deficiency that may present as a clinical continuum between severe epileptic encephalopathy and mixed focal or generalized seizures. Thiamine metabolism dysfunction syndrome 2 (MIM: 607483) or biotin-thiamine-responsive basal ganglia disease (BTBGD) due to biallelic pathogenic mutation in the SLC19A3 gene is a well-recognized cause of early infantile encephalopathy with a Leigh syndrome-like presentation and a lesser-known phenotype of atypical infantile spasms. We reported a 4-month-old infant who presented with progressive epileptic spasms since 1 month of age, psychomotor retardation, and lactic acidosis. Magnetic resonance imaging (MRI) revealed altered signal intensities in bilateral thalamic and basal ganglia, cerebellum, brainstem, cortical and subcortical white matter. Whole exome sequencing identified a homozygous ENST00000258403.3: c.871G > C (p.Gly291Arg) variant in the SLC19A3 gene. We elucidate the features in the proband, which were an amalgamation of both the above subtypes of the SLC19A3 associated with early infantile encephalopathy. We also highlight the features which were atypical for either “Leigh syndrome-like” or “atypical infantile spasm” phenotypes and suggest that the two separate entities can be merged as a clinical continuum. Treatment outcome with high-dose biotin and thiamine is promising. In addition, we report a novel pathogenic variant in the SLC19A3 gene.
癫痫发作是硫胺素转运体缺乏的一个常见特征，可能作为严重癫痫性脑病和混合性局灶性或全身性癫痫发作之间的临床连续体出现。由于SLC19A3基因双等位基因致病性突变引起的硫胺素代谢功能障碍综合征2 (MIM: 607483)或生物素-硫胺素反应性基底神经节病(BTBGD)是一种公认的早期婴儿脑病的病因，具有Leigh综合征样表现和不典型婴儿痉挛的不太为人所知的表型。我们报告了一个4个月大的婴儿，自1个月大以来出现进行性癫痫痉挛，精神运动迟缓和乳酸酸中毒。磁共振成像(MRI)显示双侧丘脑和基底节区、小脑、脑干、皮层和皮层下白质的信号强度发生改变。全外显子组测序鉴定出SLC19A3基因的纯合子ENST00000258403.3: C . 871g > C (p.Gly291Arg)变异。我们阐明了先证者的特征，这是与早期婴儿脑病相关的SLC19A3的上述两种亚型的合并。我们还强调了“Leigh综合征样”或“非典型婴儿痉挛”表型的非典型特征，并建议这两个独立的实体可以合并为一个临床连续体。大剂量生物素和硫胺素的治疗结果是有希望的。此外，我们报告了SLC19A3基因的一种新的致病变异。
{"title":"Early Infantile Thiamine Transporter-2 Deficiency with Epileptic Spasms—A Phenotypic Spectrum with a Novel Mutation","authors":"R. Mishra, Sunita Bijarnia-Mahay, Praveen Kumar, T. Buxi, S. Kulshrestha, J. Kuldeep, D. Gupta, Renu Saxena, R. Sabharwal","doi":"10.1055/s-0041-1731018","DOIUrl":"https://doi.org/10.1055/s-0041-1731018","url":null,"abstract":"Abstract Epileptic seizures are a frequent feature of thiamine transporter deficiency that may present as a clinical continuum between severe epileptic encephalopathy and mixed focal or generalized seizures. Thiamine metabolism dysfunction syndrome 2 (MIM: 607483) or biotin-thiamine-responsive basal ganglia disease (BTBGD) due to biallelic pathogenic mutation in the SLC19A3 gene is a well-recognized cause of early infantile encephalopathy with a Leigh syndrome-like presentation and a lesser-known phenotype of atypical infantile spasms. We reported a 4-month-old infant who presented with progressive epileptic spasms since 1 month of age, psychomotor retardation, and lactic acidosis. Magnetic resonance imaging (MRI) revealed altered signal intensities in bilateral thalamic and basal ganglia, cerebellum, brainstem, cortical and subcortical white matter. Whole exome sequencing identified a homozygous ENST00000258403.3: c.871G > C (p.Gly291Arg) variant in the SLC19A3 gene. We elucidate the features in the proband, which were an amalgamation of both the above subtypes of the SLC19A3 associated with early infantile encephalopathy. We also highlight the features which were atypical for either “Leigh syndrome-like” or “atypical infantile spasm” phenotypes and suggest that the two separate entities can be merged as a clinical continuum. Treatment outcome with high-dose biotin and thiamine is promising. In addition, we report a novel pathogenic variant in the SLC19A3 gene.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"117 1","pages":"168 - 174"},"PeriodicalIF":0.2,"publicationDate":"2021-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89601484","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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