The coronavirus disease 2019 pandemic has led to significant changes in hospital visits worldwide. The admission rates have remarkably decreased. This study investigates the characteristics of 104 patients (54 girls, 50 boys) who presented to our pediatric emergency department (ED) with seizures during the pandemic between May 2020 and May 2021. Regarding seizure type, 84 generalized and 20 focal seizures had occurred. Tonic, tonic–clonic, clonic, and hypomotor seizures were seen in descending order. Thirty-seven patients were diagnosed with epilepsy, and 32 patients with first afebrile, 25 first febrile, and 10 recurrent febrile seizures. No patients had acute symptomatic seizures. In 85 patients, the seizures had stopped before the ED visit; only one lasted >60 minutes. Benzodiazepines were administered as a first-line drug. Demographical features, electroencephalogram (EEG), and cranial imaging findings, laboratory test results, and distribution by month and by the hour of ED visit were analyzed. Study data was in accordance with the literature by seizure types, seizure management, and cranial imaging rates but differed by distribution in terms of month and the hour of ED visit. The EEG abnormality rate was higher among the first afebrile seizure cases. The number of patients with seizures was 69, that is, 0.3% of emergency admissions, for the 4 months of 2019 before the pandemic, and 104, that is, 0.4% of emergency admissions for the whole initial year of the pandemic thereafter. So, the number of patients with seizures had decreased, but their rate had increased, which could be attributed to a decrease in the number of nonurgent presentations to the ED during the pandemic.
{"title":"Evaluation of Patients Presenting to the Pediatric Emergency Department with Seizures during the COVID-19 Pandemic","authors":"E. Tekin, Betul Diler Durgut, H. Akoğlu","doi":"10.1055/s-0042-1746429","DOIUrl":"https://doi.org/10.1055/s-0042-1746429","url":null,"abstract":"The coronavirus disease 2019 pandemic has led to significant changes in hospital visits worldwide. The admission rates have remarkably decreased. This study investigates the characteristics of 104 patients (54 girls, 50 boys) who presented to our pediatric emergency department (ED) with seizures during the pandemic between May 2020 and May 2021. Regarding seizure type, 84 generalized and 20 focal seizures had occurred. Tonic, tonic–clonic, clonic, and hypomotor seizures were seen in descending order. Thirty-seven patients were diagnosed with epilepsy, and 32 patients with first afebrile, 25 first febrile, and 10 recurrent febrile seizures. No patients had acute symptomatic seizures. In 85 patients, the seizures had stopped before the ED visit; only one lasted >60 minutes. Benzodiazepines were administered as a first-line drug. Demographical features, electroencephalogram (EEG), and cranial imaging findings, laboratory test results, and distribution by month and by the hour of ED visit were analyzed. Study data was in accordance with the literature by seizure types, seizure management, and cranial imaging rates but differed by distribution in terms of month and the hour of ED visit. The EEG abnormality rate was higher among the first afebrile seizure cases. The number of patients with seizures was 69, that is, 0.3% of emergency admissions, for the 4 months of 2019 before the pandemic, and 104, that is, 0.4% of emergency admissions for the whole initial year of the pandemic thereafter. So, the number of patients with seizures had decreased, but their rate had increased, which could be attributed to a decrease in the number of nonurgent presentations to the ED during the pandemic.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"55 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79424873","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}
Bidisha Banerjee, S. M. Prabhu, Gowthami Lagudu, Mitesh Shetty, S. Hegde
Abstract Objective Dravet syndrome (DS) is an epileptic syndrome that shares similarities with febrile seizures (FS), especially before 1 year of age, making it challenging to differentiate the two. We describe the profile of DS, with emphasis on the first year of life that can aid in early diagnosis. Methods The clinical, investigative, treatment, and outcome profiles of DS patients presenting to the outpatient department (OPD) between October 2016 and December 2021 in a single tertiary care center in South India were analyzed. Results Seventeen children were studied, with median age at presentation of 30 (interquartile range [IQR] 10, 47) months. The median age at seizure onset was 5 (IQR 3, 6) months. First seizure semiology were generalized tonic-clonic (GTCS) (35.3%), focal (52.9%), and myoclonic (11.8%). Fever preceding first seizure was seen in 76.5%. Status epilepticus (SE; ≥30 minutes) and prolonged seizures (>10 minutes) were seen in 41.2% each, and >5 seizures were seen in 82.4% in the first year of life. The most frequent subsequent seizure types were focal seizures (76.5%) and GTCS (76.5%). Other seizure triggers included vaccination (52.9%), light (17.6%), and Hot-bath (5.8%). Delayed developmental milestones for age were found in 52.9% at diagnosis. Magnetic resonance imaging (MRI) brain and electroencephalogram were normal in 76.4% each. Pathogenic/likely pathogenic variants in SCN1A gene were seen in 64.7%. Average of 3.9 anti-seizure medications were used. After optimization of treatment seizure frequency reduced in 40% and 4/15 (26.6%) had SE. Conclusion In addition to characteristic clinical profile of DS we observed atypical presentations: an earlier age of seizure onset and afebrile seizure at onset. Delayed diagnosis was noted. Seizure control improved and SE reduced on optimal treatment.
{"title":"A Retrospective Study of the Profile and Outcome of Children with Dravet Syndrome in a Tertiary Care Hospital of Southern India","authors":"Bidisha Banerjee, S. M. Prabhu, Gowthami Lagudu, Mitesh Shetty, S. Hegde","doi":"10.1055/s-0042-1758660","DOIUrl":"https://doi.org/10.1055/s-0042-1758660","url":null,"abstract":"Abstract Objective Dravet syndrome (DS) is an epileptic syndrome that shares similarities with febrile seizures (FS), especially before 1 year of age, making it challenging to differentiate the two. We describe the profile of DS, with emphasis on the first year of life that can aid in early diagnosis. Methods The clinical, investigative, treatment, and outcome profiles of DS patients presenting to the outpatient department (OPD) between October 2016 and December 2021 in a single tertiary care center in South India were analyzed. Results Seventeen children were studied, with median age at presentation of 30 (interquartile range [IQR] 10, 47) months. The median age at seizure onset was 5 (IQR 3, 6) months. First seizure semiology were generalized tonic-clonic (GTCS) (35.3%), focal (52.9%), and myoclonic (11.8%). Fever preceding first seizure was seen in 76.5%. Status epilepticus (SE; ≥30 minutes) and prolonged seizures (>10 minutes) were seen in 41.2% each, and >5 seizures were seen in 82.4% in the first year of life. The most frequent subsequent seizure types were focal seizures (76.5%) and GTCS (76.5%). Other seizure triggers included vaccination (52.9%), light (17.6%), and Hot-bath (5.8%). Delayed developmental milestones for age were found in 52.9% at diagnosis. Magnetic resonance imaging (MRI) brain and electroencephalogram were normal in 76.4% each. Pathogenic/likely pathogenic variants in SCN1A gene were seen in 64.7%. Average of 3.9 anti-seizure medications were used. After optimization of treatment seizure frequency reduced in 40% and 4/15 (26.6%) had SE. Conclusion In addition to characteristic clinical profile of DS we observed atypical presentations: an earlier age of seizure onset and afebrile seizure at onset. Delayed diagnosis was noted. Seizure control improved and SE reduced on optimal treatment.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"26 1","pages":"091 - 097"},"PeriodicalIF":0.2,"publicationDate":"2022-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87414960","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}
The cost analysis of the 7-year cross-section of the patients in pediatric neurology outpatient clinic including patients with foreign nationality was investigated retrospectively. Between January 10, 2013 and January 10, 2020, the total number of applicants, the nationalities of the patients, and the hospital cost were analyzed. Of 3,338 patients, aged between 0 and 20 years with mean age of 8.7 years at admission to the child neurology had received 17,476 clinical examinations. Of these, 51.6% were male and 93.5% cases were Turkish patients (n = 3,122), with 6.5% foreign nationals (n = 216). There was no difference in terms of gender between nationalities (p > 0.05). The total cost of cases with epilepsy was 1,312,427.73 Turkish Lira (TRY) and 6.2% account belonged to foreign nationals, mostly from Iraq (3.6%, n = 119) and Syria (2.4%, n = 80). The highest proportion of foreigner admissions due to epilepsy was in 2018 (11.1%). Mean average of health expenditures for foreign nationals diagnosed with epilepsy was 6.2% with the highest expenditure in 2019 (27.750,06 TRY). The proportion of admissions for epilepsy was 27.6% (17,476/63,173) among all neurological admissions. The proportion of Turkish patients was 25.6% (6,181/63,173), and 3.8% (1,295/3,398) accounted for foreigners' admissions. The proportion of total epilepsy costs compared with the total neurological admissions was 30% (1.312.427,73 TRY/4.347.592,80 TRY) and among them, the expenditure proportion for epilepsy in Turkish patients compared with that of total foreigner admissions was 3.9% (80.416,44 TRY/201.490,515 TRY). Expenditures for evaluating of epileptic children with foreign nationality cover an average of 6.5% of the entire section of the health expenditures made for patients with the diagnosis of epilepsy in the pediatric neurology outpatient clinic over the 7-year period. Epilepsy accounts for 30% admissions among all neurological admissions with 3.9% belonging to foreign national admissions.
{"title":"The Cost Analysis of a 7-Year Cross-Section of Patients with Epilepsy in a Single-Center Child Neurology Outpatient Clinic: A Descriptive Retrospective Analysis","authors":"Arzu Yılmaz","doi":"10.1055/s-0042-1746428","DOIUrl":"https://doi.org/10.1055/s-0042-1746428","url":null,"abstract":"The cost analysis of the 7-year cross-section of the patients in pediatric neurology outpatient clinic including patients with foreign nationality was investigated retrospectively. Between January 10, 2013 and January 10, 2020, the total number of applicants, the nationalities of the patients, and the hospital cost were analyzed. Of 3,338 patients, aged between 0 and 20 years with mean age of 8.7 years at admission to the child neurology had received 17,476 clinical examinations. Of these, 51.6% were male and 93.5% cases were Turkish patients (n = 3,122), with 6.5% foreign nationals (n = 216). There was no difference in terms of gender between nationalities (p > 0.05). The total cost of cases with epilepsy was 1,312,427.73 Turkish Lira (TRY) and 6.2% account belonged to foreign nationals, mostly from Iraq (3.6%, n = 119) and Syria (2.4%, n = 80). The highest proportion of foreigner admissions due to epilepsy was in 2018 (11.1%). Mean average of health expenditures for foreign nationals diagnosed with epilepsy was 6.2% with the highest expenditure in 2019 (27.750,06 TRY). The proportion of admissions for epilepsy was 27.6% (17,476/63,173) among all neurological admissions. The proportion of Turkish patients was 25.6% (6,181/63,173), and 3.8% (1,295/3,398) accounted for foreigners' admissions. The proportion of total epilepsy costs compared with the total neurological admissions was 30% (1.312.427,73 TRY/4.347.592,80 TRY) and among them, the expenditure proportion for epilepsy in Turkish patients compared with that of total foreigner admissions was 3.9% (80.416,44 TRY/201.490,515 TRY). Expenditures for evaluating of epileptic children with foreign nationality cover an average of 6.5% of the entire section of the health expenditures made for patients with the diagnosis of epilepsy in the pediatric neurology outpatient clinic over the 7-year period. Epilepsy accounts for 30% admissions among all neurological admissions with 3.9% belonging to foreign national admissions.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"38 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81391251","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}
Juan Pablo Coronado-Lopez, Juan Felipe Coronado, J. F. Gomez-Urrego, Richard Londono-Chavez
Abstract Introduction Sturge Weber syndrome (SWS) is a rare neurocutaneous condition due to the mutation of the GNAQ gen. This condition is characterized by skin, eye, and brain compromise, but the type III only affects the brain, making it a challenging condition to diagnose. Clinical Case A Hispanic 4 year-old female, with a history of complex febrile seizure in her medical records, presented to the emergency room in status epilepticus after 24 hours of upper respiratory symptoms. After a neurological and radiologic evaluation, SWS III was diagnosed, which led to a pharmacological adjustment for achieving control of the seizures, with a great clinical evolution. Discussion The pathophysiology, diagnostics, and proper management of this disease are discussed. Conclusion SWS is a rare neurocutaneous disease, usually diagnosed in patients with pathognomonic features, however it is important to know that type III SWS exists and represents a challenging diagnosis, leading to a time-race for starting proper management, considering that the outcome includes a better life-quality, a higher cognitive result, and reduced morbimortality.
{"title":"Type III Sturge Weber Syndrome, An Uncommon Cause of Status Epilepticus","authors":"Juan Pablo Coronado-Lopez, Juan Felipe Coronado, J. F. Gomez-Urrego, Richard Londono-Chavez","doi":"10.1055/s-0042-1757917","DOIUrl":"https://doi.org/10.1055/s-0042-1757917","url":null,"abstract":"Abstract Introduction Sturge Weber syndrome (SWS) is a rare neurocutaneous condition due to the mutation of the GNAQ gen. This condition is characterized by skin, eye, and brain compromise, but the type III only affects the brain, making it a challenging condition to diagnose. Clinical Case A Hispanic 4 year-old female, with a history of complex febrile seizure in her medical records, presented to the emergency room in status epilepticus after 24 hours of upper respiratory symptoms. After a neurological and radiologic evaluation, SWS III was diagnosed, which led to a pharmacological adjustment for achieving control of the seizures, with a great clinical evolution. Discussion The pathophysiology, diagnostics, and proper management of this disease are discussed. Conclusion SWS is a rare neurocutaneous disease, usually diagnosed in patients with pathognomonic features, however it is important to know that type III SWS exists and represents a challenging diagnosis, leading to a time-race for starting proper management, considering that the outcome includes a better life-quality, a higher cognitive result, and reduced morbimortality.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"19 1","pages":"103 - 108"},"PeriodicalIF":0.2,"publicationDate":"2022-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76679303","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}
A. Yogi, Y. Hirata, M. Linetsky, B. Ellingson, N. Salamon
Abstract Objective The imaging characteristics, evolution, and clinical features of cerebellar tubers in tuberous sclerosis complex (TSC) patients have not been well described. The purpose of this study is to investigate the imaging characteristics of cerebellar tubers, including their dynamic changes, and to evaluate the relationship with cerebral tubers in TSC patients. Materials and Methods Two observers retrospectively reviewed 75 consecutive TSC patients to identify cerebellar tubers and to evaluate their imaging characteristics, including location, presence of retraction change, calcification, contrast enhancement, and the presence of an associated vascular anomaly, as well as dynamic changes in these characteristics. The number of cerebral tubers was compared between TSC patients with and without cerebellar tubers. Results Twenty-five TSC patients with 28 cerebellar tubers were identified. All cerebellar tubers occurred within the lateral portions of the cerebellar hemispheres. Thirteen cerebellar tubers demonstrated calcification. Ten cerebellar tubers showed contrast enhancement, half of which demonstrated a zebra-like appearance. A vascular anomaly was associated with 12 tubers, one of which subsequently developed parenchymal hemorrhage. Fifteen cerebellar tubers demonstrated complex dynamic changes in size and contrast enhancement. Patients with cerebellar tubers had more cerebral tubers ( p = 0.001). Conclusion Cerebellar tubers demonstrate a specific distribution, suggesting a possible influence on higher brain function. The presence of an associated vascular anomaly may be an important imaging characteristic. Cerebellar tubers may be associated with a more severe manifestation of TSC, given their association with increased numbers of cerebral tubers. These findings may provide insights into the pathogenesis and clinical manifestations of cerebellar tubers in TSC patients.
{"title":"Cerebellar Tubers in Tuberous Sclerosis Complex Patients: New Imaging Characteristics and the Relationship with Cerebral Tubers","authors":"A. Yogi, Y. Hirata, M. Linetsky, B. Ellingson, N. Salamon","doi":"10.1055/s-0042-1756717","DOIUrl":"https://doi.org/10.1055/s-0042-1756717","url":null,"abstract":"Abstract Objective The imaging characteristics, evolution, and clinical features of cerebellar tubers in tuberous sclerosis complex (TSC) patients have not been well described. The purpose of this study is to investigate the imaging characteristics of cerebellar tubers, including their dynamic changes, and to evaluate the relationship with cerebral tubers in TSC patients. Materials and Methods Two observers retrospectively reviewed 75 consecutive TSC patients to identify cerebellar tubers and to evaluate their imaging characteristics, including location, presence of retraction change, calcification, contrast enhancement, and the presence of an associated vascular anomaly, as well as dynamic changes in these characteristics. The number of cerebral tubers was compared between TSC patients with and without cerebellar tubers. Results Twenty-five TSC patients with 28 cerebellar tubers were identified. All cerebellar tubers occurred within the lateral portions of the cerebellar hemispheres. Thirteen cerebellar tubers demonstrated calcification. Ten cerebellar tubers showed contrast enhancement, half of which demonstrated a zebra-like appearance. A vascular anomaly was associated with 12 tubers, one of which subsequently developed parenchymal hemorrhage. Fifteen cerebellar tubers demonstrated complex dynamic changes in size and contrast enhancement. Patients with cerebellar tubers had more cerebral tubers ( p = 0.001). Conclusion Cerebellar tubers demonstrate a specific distribution, suggesting a possible influence on higher brain function. The presence of an associated vascular anomaly may be an important imaging characteristic. Cerebellar tubers may be associated with a more severe manifestation of TSC, given their association with increased numbers of cerebral tubers. These findings may provide insights into the pathogenesis and clinical manifestations of cerebellar tubers in TSC patients.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"41 1","pages":"076 - 083"},"PeriodicalIF":0.2,"publicationDate":"2022-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74713867","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}
J. Kassiri, C. Elliott, Natarie Liu, K. Narvacan, Matt Wheatly, D. Sinclair
Stereoelectroencephalography (SEEG) is the preoperative assessment of choice when the epileptogenic zone (EZ) is unclear in patients requiring surgery for severe, drug-refractory epilepsy. There are relatively little data on the safety and efficacy of SEEG in the pediatric epilepsy population. We, therefore, investigated the insertional complications, rate of successful identification of the EZ, and long-term seizure outcomes following surgery after SEEG in children. This was a retrospective study of drug-resistant pediatric epilepsy patients treated with surgery between 2005 and 2020 and who underwent presurgical SEEG. Rationale for and coverage of SEEG, identification of the EZ, and ultimate seizure outcome following SEEG-tailored resections were collected and analyzed. Thirty patients (15 male, mean age: 12.4 ± 5 years) who underwent SEEG were studied. SEEG-related complications occurred in one case (3%). A total of 190 multicontact electrodes (mean: 7.0 ± 2.5 per patient) were implanted across 30 insertions capturing 440 electrographic seizures (mean: 17.5 ± 27.6 per patient). The most common rationale for SEEG was normal magnetic resonance imaging with surface EEG that failed to identify the EZ (17/30; 57%). SEEG identified a putative EZ in all cases, resulting in SEEG-tailored resections in 25/30 (83%). Freedom from disabling seizures was achieved following resections in 20/25 cases (80%) with 5.9 ± 4.0 years of postoperative follow-up. SEEG is a safe and effective way to identify the EZ in the presurgical evaluation of children with refractory epilepsy and permits effective and long-lasting SEEG-tailored resections.
{"title":"Safety and Efficacy of Stereoelectroencephalography in Pediatric Epilepsy Surgery","authors":"J. Kassiri, C. Elliott, Natarie Liu, K. Narvacan, Matt Wheatly, D. Sinclair","doi":"10.1055/s-0042-1743192","DOIUrl":"https://doi.org/10.1055/s-0042-1743192","url":null,"abstract":"Stereoelectroencephalography (SEEG) is the preoperative assessment of choice when the epileptogenic zone (EZ) is unclear in patients requiring surgery for severe, drug-refractory epilepsy. There are relatively little data on the safety and efficacy of SEEG in the pediatric epilepsy population. We, therefore, investigated the insertional complications, rate of successful identification of the EZ, and long-term seizure outcomes following surgery after SEEG in children. This was a retrospective study of drug-resistant pediatric epilepsy patients treated with surgery between 2005 and 2020 and who underwent presurgical SEEG. Rationale for and coverage of SEEG, identification of the EZ, and ultimate seizure outcome following SEEG-tailored resections were collected and analyzed. Thirty patients (15 male, mean age: 12.4 ± 5 years) who underwent SEEG were studied. SEEG-related complications occurred in one case (3%). A total of 190 multicontact electrodes (mean: 7.0 ± 2.5 per patient) were implanted across 30 insertions capturing 440 electrographic seizures (mean: 17.5 ± 27.6 per patient). The most common rationale for SEEG was normal magnetic resonance imaging with surface EEG that failed to identify the EZ (17/30; 57%). SEEG identified a putative EZ in all cases, resulting in SEEG-tailored resections in 25/30 (83%). Freedom from disabling seizures was achieved following resections in 20/25 cases (80%) with 5.9 ± 4.0 years of postoperative follow-up. SEEG is a safe and effective way to identify the EZ in the presurgical evaluation of children with refractory epilepsy and permits effective and long-lasting SEEG-tailored resections.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"65 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80694101","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}
A. Almojuela, Q. Xu, Aoife O’Carroll, C. MacDonald, L. Ritchie, D. Serletis
Background A Pediatric Epilepsy Program was instituted in Manitoba in 2016. This report seeks to describe changes in the management of pediatric epilepsy patients in Manitoba since the inception of this Program, to provide an early analysis of local outcomes, and to present a framework for further program development. Methods Data was collected for patients treated both before and after inception of the Program. Caregivers completed questionnaires on quality of life and program satisfaction. An online database was created to capture demographic information, seizure and quality of life outcomes, and caregiver satisfaction ratings. Descriptive statistics were used to summarize the results. Results Prior to commencement of the Program, 16 patients underwent vagal nerve stimulator (VNS) insertion. At last follow-up, 6.25% of patients achieved Engel class I outcome, 75% achieved class III outcome, and 18.75% were classified as class IV. Following inception of the Program, 11 patients underwent resective procedures and 3 underwent VNS insertions. At last follow-up, 78.6% of patients achieved Engel class I outcome, 14.3% achieved class III outcome, and 7.1% were classified as class IV. Since inception of the Program, the average Quality of Life in Childhood Epilepsy Questionnaire-55 score measuring patient quality of life was (59.7 ± 23.2)/100. The average Care-Related Quality of Life-7D score measuring caregiver quality of life was (78.3 ± 18.6)/100. Caregiver satisfaction had an average rating of (9.4 ± 0.8)/10. Conclusion Access to epilepsy surgery has significantly improved for children in Manitoba and has led to favorable, early multidimensional outcomes. Structural organization, funding, and multidisciplinary engagement are necessary for program sustainability and growth.
{"title":"Development of a Pediatric Epilepsy Program: Analysis of Early Multidimensional Outcomes","authors":"A. Almojuela, Q. Xu, Aoife O’Carroll, C. MacDonald, L. Ritchie, D. Serletis","doi":"10.1055/s-0042-1742607","DOIUrl":"https://doi.org/10.1055/s-0042-1742607","url":null,"abstract":"\u0000 Background A Pediatric Epilepsy Program was instituted in Manitoba in 2016. This report seeks to describe changes in the management of pediatric epilepsy patients in Manitoba since the inception of this Program, to provide an early analysis of local outcomes, and to present a framework for further program development.\u0000 Methods Data was collected for patients treated both before and after inception of the Program. Caregivers completed questionnaires on quality of life and program satisfaction. An online database was created to capture demographic information, seizure and quality of life outcomes, and caregiver satisfaction ratings. Descriptive statistics were used to summarize the results.\u0000 Results Prior to commencement of the Program, 16 patients underwent vagal nerve stimulator (VNS) insertion. At last follow-up, 6.25% of patients achieved Engel class I outcome, 75% achieved class III outcome, and 18.75% were classified as class IV. Following inception of the Program, 11 patients underwent resective procedures and 3 underwent VNS insertions. At last follow-up, 78.6% of patients achieved Engel class I outcome, 14.3% achieved class III outcome, and 7.1% were classified as class IV. Since inception of the Program, the average Quality of Life in Childhood Epilepsy Questionnaire-55 score measuring patient quality of life was (59.7 ± 23.2)/100. The average Care-Related Quality of Life-7D score measuring caregiver quality of life was (78.3 ± 18.6)/100. Caregiver satisfaction had an average rating of (9.4 ± 0.8)/10.\u0000 Conclusion Access to epilepsy surgery has significantly improved for children in Manitoba and has led to favorable, early multidimensional outcomes. Structural organization, funding, and multidisciplinary engagement are necessary for program sustainability and growth.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"1 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85274021","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}
Fabiana Di Stasio, Martha Caterina Faraguna, Santo Di Marco, Viola Crescitelli, M. Iascone, Santa Florio, C. Peruzzi, S. Gasperini
Asparagine synthetase (ASNS) deficiency is a rare inborn error of metabolism caused by a defect in ASNS—a gene encoding asparagine synthetase. It has mainly been described as a neurological phenotype manifesting as severe developmental delay, congenital microcephaly, spasticity, and refractory seizures; it is not associated with any specific dysmorphisms. ASNS deficiency leads to the inability to synthesize a nonessential amino acid in the brain, this explains why the symptoms are primarily neurological. The accumulation of aspartate/glutamate causes increased neuronal apoptosis leading to brain atrophy and increased neuronal excitability leading to seizures. Asparagine levels in plasma and cerebrospinal fluid are not reliable biomarkers for this disorder, therefore diagnosis is mainly obtained by molecular genetics. This disorder is associated with a poor prognosis and there is no treatment except supportive therapy. Prenatal diagnosis is possible. We report a case of a later onset form, c.146G > A (p.Arg49Gln) variant in the ASNS gene detected by molecular analysis using next-generation sequencing; the patient's clinical presentation included microcephaly, regression of developmental milestones, epilepsy, and hyperthermia.
天冬酰胺合成酶(ASNS)缺乏症是由编码天冬酰胺合成酶的基因ASNS缺陷引起的一种罕见的先天性代谢错误。它主要被描述为一种神经表型，表现为严重的发育迟缓、先天性小头畸形、痉挛和难治性癫痫发作;它不与任何特定的畸形相关联。ASNS缺陷导致大脑无法合成一种非必需氨基酸，这就解释了为什么症状主要是神经系统的。天冬氨酸/谷氨酸的积累导致神经元凋亡增加，导致脑萎缩和神经元兴奋性增加，导致癫痫发作。血浆和脑脊液中的天冬酰胺水平不是这种疾病的可靠生物标志物，因此诊断主要通过分子遗传学获得。这种疾病与预后不良有关，除了支持治疗外没有其他治疗方法。产前诊断是可能的。我们报告了一例发病较晚的ASNS基因c.146G > a (p.a g49gln)变异，通过使用下一代测序进行分子分析检测;患者的临床表现包括小头畸形、发育里程碑倒退、癫痫和高热。
{"title":"A Neuro-metabolic Syndrome that Needs to Be Discovered: A Child with Late Onset Asparagine Synthetase Deficiency","authors":"Fabiana Di Stasio, Martha Caterina Faraguna, Santo Di Marco, Viola Crescitelli, M. Iascone, Santa Florio, C. Peruzzi, S. Gasperini","doi":"10.1055/s-0041-1739488","DOIUrl":"https://doi.org/10.1055/s-0041-1739488","url":null,"abstract":"Asparagine synthetase (ASNS) deficiency is a rare inborn error of metabolism caused by a defect in ASNS—a gene encoding asparagine synthetase. It has mainly been described as a neurological phenotype manifesting as severe developmental delay, congenital microcephaly, spasticity, and refractory seizures; it is not associated with any specific dysmorphisms. ASNS deficiency leads to the inability to synthesize a nonessential amino acid in the brain, this explains why the symptoms are primarily neurological. The accumulation of aspartate/glutamate causes increased neuronal apoptosis leading to brain atrophy and increased neuronal excitability leading to seizures. Asparagine levels in plasma and cerebrospinal fluid are not reliable biomarkers for this disorder, therefore diagnosis is mainly obtained by molecular genetics. This disorder is associated with a poor prognosis and there is no treatment except supportive therapy. Prenatal diagnosis is possible. We report a case of a later onset form, c.146G > A (p.Arg49Gln) variant in the ASNS gene detected by molecular analysis using next-generation sequencing; the patient's clinical presentation included microcephaly, regression of developmental milestones, epilepsy, and hyperthermia.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"27 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2021-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89097447","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}
B. Mehra, R. Sabharwal, A. Sachdev, Praveen Kumar, R. Mehta, Neeraj Gupta
Abstract The treatment of super-refractory status epilepticus (SRSE) and prolonged SRSE rests on urgent seizure control to minimize excitotoxic cerebral damage, other forms of neurologic damage, and multiple medical complications. To date no randomized controlled trials or clear-cut guidelines are available for the management of SRSE. We reported the case of a 10-year-old previously healthy male child patient who presented with a febrile illness and new onset prolonged SRSE that became refractory to multiple antiseizure medications (ASMs). Coma induction with anesthetic agents, 14 ASMs, ketogenic diet, immunotherapy failed to completely control the SRSE in our patient. On day 22, clinical and electroencephalographic seizure control was achieved with isoflurane inhalation anesthesia, which was continued for 3 weeks but was unable to be weaned. From day 57 onwards, electroconvulsive therapy was administered (total 14 sessions that resulted in complete control of seizures). He was discharged on the 80th day.
{"title":"Successful Use of Inhalational Anesthesia and Electroconvulsive Therapy in a Child with New Onset Prolonged Super-Refractory Status Epilepticus","authors":"B. Mehra, R. Sabharwal, A. Sachdev, Praveen Kumar, R. Mehta, Neeraj Gupta","doi":"10.1055/s-0041-1740112","DOIUrl":"https://doi.org/10.1055/s-0041-1740112","url":null,"abstract":"Abstract The treatment of super-refractory status epilepticus (SRSE) and prolonged SRSE rests on urgent seizure control to minimize excitotoxic cerebral damage, other forms of neurologic damage, and multiple medical complications. To date no randomized controlled trials or clear-cut guidelines are available for the management of SRSE. We reported the case of a 10-year-old previously healthy male child patient who presented with a febrile illness and new onset prolonged SRSE that became refractory to multiple antiseizure medications (ASMs). Coma induction with anesthetic agents, 14 ASMs, ketogenic diet, immunotherapy failed to completely control the SRSE in our patient. On day 22, clinical and electroencephalographic seizure control was achieved with isoflurane inhalation anesthesia, which was continued for 3 weeks but was unable to be weaned. From day 57 onwards, electroconvulsive therapy was administered (total 14 sessions that resulted in complete control of seizures). He was discharged on the 80th day.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"16 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2021-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86164046","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 We aimed to evaluate the contribution of simultaneous electrocardiography (ECG) recording during routine interictal electroencephalography (EEG) recording in patients with seizures or epilepsy and therefore to provide evidence-based data on this subject. Patients with interictal cardiac arrhythmia on routine EEG-ECG recordings were determined and evaluated based on cardiologic and neurologic findings. Out of 1,078 patients aged between 5 and 16 years (mean: 10.2 ± 3.2), 9 (0.08%) patients were found to have an arrhythmia. Six patients had both epilepsy and cardiac arrhythmia (premature ventricular contractions [PVCs] in 5; Wolff-Parkinson-White [WPW] in 1 patient) and the remaining three patients had nonepileptic paroxysmal events (NPEs) and arrhythmia (PVC in 2; WPW in 1). Three patients had other diseases (neurofibromatosis type 1, tuberous sclerosis, and congenital heart disease status postsurgery). Cardiac arrhythmia required radiofrequency ablation or antiarrhythmic drug treatment in two patients with epilepsy and also two patients with NPE; however, it improved with no specific treatment in the remaining five patients. NPE was not related to arrhythmia in one of three patients with NPE. Our study suggests that routine interictal EEG-ECG recording provides a valuable and feasible opportunity to reveal unnoticed or new-onset cardiac arrhythmias. Therefore, ECG should be recorded simultaneously during routine interictal EEG recordings. Cardiac arrhythmias detected by routine interictal EEG-ECG recordings would require arrhythmia treatment in nearly half of the patients.
{"title":"Routine Interictal EEG Recording Should be Performed Together with Simultaneous Two-Lead ECG Recording","authors":"K. Yılmaz, S. Işıkay, Sibel Yavuz, O. Başpınar","doi":"10.1055/s-0042-1751247","DOIUrl":"https://doi.org/10.1055/s-0042-1751247","url":null,"abstract":"Abstract We aimed to evaluate the contribution of simultaneous electrocardiography (ECG) recording during routine interictal electroencephalography (EEG) recording in patients with seizures or epilepsy and therefore to provide evidence-based data on this subject. Patients with interictal cardiac arrhythmia on routine EEG-ECG recordings were determined and evaluated based on cardiologic and neurologic findings. Out of 1,078 patients aged between 5 and 16 years (mean: 10.2 ± 3.2), 9 (0.08%) patients were found to have an arrhythmia. Six patients had both epilepsy and cardiac arrhythmia (premature ventricular contractions [PVCs] in 5; Wolff-Parkinson-White [WPW] in 1 patient) and the remaining three patients had nonepileptic paroxysmal events (NPEs) and arrhythmia (PVC in 2; WPW in 1). Three patients had other diseases (neurofibromatosis type 1, tuberous sclerosis, and congenital heart disease status postsurgery). Cardiac arrhythmia required radiofrequency ablation or antiarrhythmic drug treatment in two patients with epilepsy and also two patients with NPE; however, it improved with no specific treatment in the remaining five patients. NPE was not related to arrhythmia in one of three patients with NPE. Our study suggests that routine interictal EEG-ECG recording provides a valuable and feasible opportunity to reveal unnoticed or new-onset cardiac arrhythmias. Therefore, ECG should be recorded simultaneously during routine interictal EEG recordings. Cardiac arrhythmias detected by routine interictal EEG-ECG recordings would require arrhythmia treatment in nearly half of the patients.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"5 1","pages":"069 - 075"},"PeriodicalIF":0.2,"publicationDate":"2021-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85189660","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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