Valproic acid(VPA) is one of the most prescribed drugs in children with newly diagnosed epilepsy. Weight gain and obesity have been observed as side effects of VPA. These are often linked with other metabolic disturba...Valproic acid(VPA) is one of the most prescribed drugs in children with newly diagnosed epilepsy. Weight gain and obesity have been observed as side effects of VPA. These are often linked with other metabolic disturbances such as development of insulin resistance, dyslipidemia, metabolic syndrome(Met S) and nonalcoholic fatty liver disease or nonalcoholic fatty liver disease(NAFLD). NAFLD refers to a group of liver disorders with marked hepatic steatosis. It is associated with an increased incidence of cardiovascular diseases and overall reduced life expectancy. NAFLD occurs in 20%-25% of the general population and it is known to be the most common cause of chronic liver disease. NAFLD therefore represents a major public health issue worldwide. This study reviews and summarizes relevant literature that supports the existence of an association between VPA therapy and the development of NAFLD in children. Long-term VPA-therapy appears to be associated with an increased risk of developing NAFLD. Further studies are needed to clarify the pathogenic mechanisms that lie behind this association and to standardize the options for the use of this drug in overweight patients and in those with risks for developing Met S and NAFLD.展开更多
Since the coronavirus disease 2019(COVID-19)pandemic caused by severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)has rapidly spread worldwide,there is still limited knowledge about this condition and its natu...Since the coronavirus disease 2019(COVID-19)pandemic caused by severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)has rapidly spread worldwide,there is still limited knowledge about this condition and its natural history.Children have been relatively spared during COVID-19 pandemic but a novel syndrome known as multisystem inflammatory syndrome(MIS-C)has emerged,following a SARS-CoV-2 infection in children and adolescents.This syndrome can lead to shock and multiple organ failure requiring intensive care.Although COVID-19 clinical research focuses on respiratory symptoms,extrapulmonary involvement such as gastrointestinal(GI)and hepatic manifestations should also be considered.In fact,GI and hepatic involvement play an important role among the most common presenting symptoms of both pediatric and adult COVID-19 and MIS-C.This involvement can not only be one of the most common presenting clinical features but also one of the sequelae of these syndromes.Abdominal ultrasonography monitoring could be very useful to identify a potential involvement of the GI tract and liver.Moreover,long-term follow-up is needed and would be essential to define the long-term outcomes of these patients.展开更多
Artificial intelligence(AI)is promising for supporting and optimizing clinical practice in various fields while simultaneously arousing excitement and concerns about its benefits and limitations[1].Even in the field o...Artificial intelligence(AI)is promising for supporting and optimizing clinical practice in various fields while simultaneously arousing excitement and concerns about its benefits and limitations[1].Even in the field of epilepsy,the application of AI techniques has enabled the development of highly relevant tools for both diagnostic and therapeutic purposes.In particular,the diagnostic domain is on the verge of benefiting from AI-assisted tools that can enhance already widely utilized methodologies,such as electroencephalogram(EEG)pattern analysis,neuroimaging data interpretation and the integration of wearable or remote monitoring devices.展开更多
The developmental coordination disorder(DCD)is characterized by an impaired motor coordination skill for age impacting day-life motor activities and academic achievement of children.DCD has been classified as neurodev...The developmental coordination disorder(DCD)is characterized by an impaired motor coordination skill for age impacting day-life motor activities and academic achievement of children.DCD has been classified as neurodevelopmental disorder in DSM-5[1].DCD prevalence has been estimated ranging about 5–6%worldwide,but without a recognized causative hypothesis apart from the so-called“dual stream hypothesis”,which suggests a separation in cerebral pathways involved in perception and action,and the known relationship with executive functions(EF)impairments.In 2023,the systematic review by Fogel et al.provided an evidence of weak-to-strong relationships between motor skills and EFs among individuals with DCD[2].Moreover,the low birth weight and/or the preterm birth have been identified as the most relevant causative factors for DCD and probably for other neurological disorders included epilepsy and for neurodevelopmental disorders(NDDs).展开更多
Background:Recent studies have shown a possible coexistence of absence seizures with other forms of epilepsy.The purpose of this study was to ascertain the possible contemporary or subsequent presence of childhood abs...Background:Recent studies have shown a possible coexistence of absence seizures with other forms of epilepsy.The purpose of this study was to ascertain the possible contemporary or subsequent presence of childhood absence epilepsy (CAE) and benign epilepsy with centro-temporal spikes (BECTS) in pediatric epileptic patients.Data sources:A PubMed systematic search indexed for MEDLINE,PubMed and EMBASE was undertaken to identify studies in children including articles written between 1996 and 2015.Retrospective studies,meta-analysis and case reports were included.The list of references of all the relevant articles was also studied.The date of our last search was December 2015.Results:Review of the literature revealed 19 cases,8 females and 11 males,reporting a consecutive or contemporary coexistence of CAE and BECTS within the same patients.Patient's age ranged between 4 and 12 years.Three out of 19 patients presented concomitant features of both syndromes,whereas 16 patients experienced the two syndromes at different times.Conclusions:BECTS and CAE may be pathophysiologically related,and the two epileptic phenotypes may indicate a neurobiological continuum.Further studies are needed to elucidate a probable genetic or functional link between partial and primarily generalized electro-clinical patterns in idiopathic childhood epilepsies.展开更多
Background Aicardi-Goutières syndrome(AGS)is a genetically determined disorder with a variable phenotype.Since the original description of AGS,advances in gene sequencing techniques have resulted in a significant...Background Aicardi-Goutières syndrome(AGS)is a genetically determined disorder with a variable phenotype.Since the original description of AGS,advances in gene sequencing techniques have resulted in a significant broadening of the phenotypic spectrum associated with AGS genes,and new clinical pictures have emerged beyond the classic presentation.The aim of this review is to provide a comprehensive analysis of the clinical spectrum of AGS and report currently available treatments and new immunosuppressive strategies.Data sources Literature reviews and original research articles were collected from databases,including PubMed and Clini-calTrials.gov.Relevant articles about AGS were included.Results The involvement of the nervous system certainly represents the major cause of mortality and morbidity in AGS patients.However,other clinical manifestations,such as chilblains,hepatosplenomegaly,and hematological disturbances,may lead to the diagnosis and considerably impact the prognosis and overall quality of life of these patients.Therapeutic approaches of AGS are limited to interventions aimed at specific symptoms and the management of multiple comorbidities.However,advances in understanding the pathogenesis of AGS could open new and more effective therapies.Conclusions The over-activation of innate immunity due to upregulated interferon production plays a critical role in AGS,leading to multi-organ damage with the main involvement of the central nervous system.To date,there is no specific and effective treatment for AGS.New drugs specifically targeting the interferon pathway may bring new hope to AGS patients.展开更多
Authors of the letter made an interesting and intriguing proposal: they introduce the concept that a child already affected by benign epilepsy with centrotemporal spikes (BECTS) when manifests contemporary or subseque...Authors of the letter made an interesting and intriguing proposal: they introduce the concept that a child already affected by benign epilepsy with centrotemporal spikes (BECTS) when manifests contemporary or subsequent the symptoms of childhood absence epilepsy (CAE), he/she could be affected by an atypical form of BECTS, despite the fact that the coexistence of these idiopathic epilepsy remains controversial and has been rarely observed. BECTS and CAE could be pathophysiologically linked, possibly with an underlying genetic mechanism.展开更多
Background:Epilepsy associated with Prader-Willi syndrome(PWS)represents an early and important complication,often not clearly reported and described in the literature.Consequently,there are controversial data about t...Background:Epilepsy associated with Prader-Willi syndrome(PWS)represents an early and important complication,often not clearly reported and described in the literature.Consequently,there are controversial data about the clinical characteristics of epilepsy and electroencephalographic(EEG)abnormalities found in these patients.Data sources:Based on recent original publications,we have reviewed the different types of seizures and EEG findings in PWS patients,the response to antiepileptic treatment,and the prognosis of epilepsy.Results:The frequency of epilepsy in PWS patients ranges from 4%to 26%.The types of seizure include generalized tonic-clonic seizures,complex partial seizures,atypical absence,staring spells,and myoclonic,tonic and hemiclonic seizures,but the most frequent type is focal epilepsy.Status epilepticus has never been reported.EEG abnormalities are not typical but variable in different patients.However,generalized and focal discharges are the most frequently reported findings.There is no evidence of relationship between the course of epilepsy and frequency,morphology and spread of EEG discharges.However,epilepsy in PWS patients is usually responsive to antiepileptic monotherapy with rapid seizure control and a good outcome.Conclusions:The frequency of epilepsy is higher in PWS patients than in general populations and this complication can be a challenge for the clinicians of these patients.Prospective studies are needed to confirm the good long-term prognosis.展开更多
文摘Valproic acid(VPA) is one of the most prescribed drugs in children with newly diagnosed epilepsy. Weight gain and obesity have been observed as side effects of VPA. These are often linked with other metabolic disturbances such as development of insulin resistance, dyslipidemia, metabolic syndrome(Met S) and nonalcoholic fatty liver disease or nonalcoholic fatty liver disease(NAFLD). NAFLD refers to a group of liver disorders with marked hepatic steatosis. It is associated with an increased incidence of cardiovascular diseases and overall reduced life expectancy. NAFLD occurs in 20%-25% of the general population and it is known to be the most common cause of chronic liver disease. NAFLD therefore represents a major public health issue worldwide. This study reviews and summarizes relevant literature that supports the existence of an association between VPA therapy and the development of NAFLD in children. Long-term VPA-therapy appears to be associated with an increased risk of developing NAFLD. Further studies are needed to clarify the pathogenic mechanisms that lie behind this association and to standardize the options for the use of this drug in overweight patients and in those with risks for developing Met S and NAFLD.
文摘Since the coronavirus disease 2019(COVID-19)pandemic caused by severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)has rapidly spread worldwide,there is still limited knowledge about this condition and its natural history.Children have been relatively spared during COVID-19 pandemic but a novel syndrome known as multisystem inflammatory syndrome(MIS-C)has emerged,following a SARS-CoV-2 infection in children and adolescents.This syndrome can lead to shock and multiple organ failure requiring intensive care.Although COVID-19 clinical research focuses on respiratory symptoms,extrapulmonary involvement such as gastrointestinal(GI)and hepatic manifestations should also be considered.In fact,GI and hepatic involvement play an important role among the most common presenting symptoms of both pediatric and adult COVID-19 and MIS-C.This involvement can not only be one of the most common presenting clinical features but also one of the sequelae of these syndromes.Abdominal ultrasonography monitoring could be very useful to identify a potential involvement of the GI tract and liver.Moreover,long-term follow-up is needed and would be essential to define the long-term outcomes of these patients.
文摘Artificial intelligence(AI)is promising for supporting and optimizing clinical practice in various fields while simultaneously arousing excitement and concerns about its benefits and limitations[1].Even in the field of epilepsy,the application of AI techniques has enabled the development of highly relevant tools for both diagnostic and therapeutic purposes.In particular,the diagnostic domain is on the verge of benefiting from AI-assisted tools that can enhance already widely utilized methodologies,such as electroencephalogram(EEG)pattern analysis,neuroimaging data interpretation and the integration of wearable or remote monitoring devices.
文摘The developmental coordination disorder(DCD)is characterized by an impaired motor coordination skill for age impacting day-life motor activities and academic achievement of children.DCD has been classified as neurodevelopmental disorder in DSM-5[1].DCD prevalence has been estimated ranging about 5–6%worldwide,but without a recognized causative hypothesis apart from the so-called“dual stream hypothesis”,which suggests a separation in cerebral pathways involved in perception and action,and the known relationship with executive functions(EF)impairments.In 2023,the systematic review by Fogel et al.provided an evidence of weak-to-strong relationships between motor skills and EFs among individuals with DCD[2].Moreover,the low birth weight and/or the preterm birth have been identified as the most relevant causative factors for DCD and probably for other neurological disorders included epilepsy and for neurodevelopmental disorders(NDDs).
文摘Background:Recent studies have shown a possible coexistence of absence seizures with other forms of epilepsy.The purpose of this study was to ascertain the possible contemporary or subsequent presence of childhood absence epilepsy (CAE) and benign epilepsy with centro-temporal spikes (BECTS) in pediatric epileptic patients.Data sources:A PubMed systematic search indexed for MEDLINE,PubMed and EMBASE was undertaken to identify studies in children including articles written between 1996 and 2015.Retrospective studies,meta-analysis and case reports were included.The list of references of all the relevant articles was also studied.The date of our last search was December 2015.Results:Review of the literature revealed 19 cases,8 females and 11 males,reporting a consecutive or contemporary coexistence of CAE and BECTS within the same patients.Patient's age ranged between 4 and 12 years.Three out of 19 patients presented concomitant features of both syndromes,whereas 16 patients experienced the two syndromes at different times.Conclusions:BECTS and CAE may be pathophysiologically related,and the two epileptic phenotypes may indicate a neurobiological continuum.Further studies are needed to elucidate a probable genetic or functional link between partial and primarily generalized electro-clinical patterns in idiopathic childhood epilepsies.
基金Universita degli Studi di Perugia within the CRUI-CARE agreement.
文摘Background Aicardi-Goutières syndrome(AGS)is a genetically determined disorder with a variable phenotype.Since the original description of AGS,advances in gene sequencing techniques have resulted in a significant broadening of the phenotypic spectrum associated with AGS genes,and new clinical pictures have emerged beyond the classic presentation.The aim of this review is to provide a comprehensive analysis of the clinical spectrum of AGS and report currently available treatments and new immunosuppressive strategies.Data sources Literature reviews and original research articles were collected from databases,including PubMed and Clini-calTrials.gov.Relevant articles about AGS were included.Results The involvement of the nervous system certainly represents the major cause of mortality and morbidity in AGS patients.However,other clinical manifestations,such as chilblains,hepatosplenomegaly,and hematological disturbances,may lead to the diagnosis and considerably impact the prognosis and overall quality of life of these patients.Therapeutic approaches of AGS are limited to interventions aimed at specific symptoms and the management of multiple comorbidities.However,advances in understanding the pathogenesis of AGS could open new and more effective therapies.Conclusions The over-activation of innate immunity due to upregulated interferon production plays a critical role in AGS,leading to multi-organ damage with the main involvement of the central nervous system.To date,there is no specific and effective treatment for AGS.New drugs specifically targeting the interferon pathway may bring new hope to AGS patients.
文摘Authors of the letter made an interesting and intriguing proposal: they introduce the concept that a child already affected by benign epilepsy with centrotemporal spikes (BECTS) when manifests contemporary or subsequent the symptoms of childhood absence epilepsy (CAE), he/she could be affected by an atypical form of BECTS, despite the fact that the coexistence of these idiopathic epilepsy remains controversial and has been rarely observed. BECTS and CAE could be pathophysiologically linked, possibly with an underlying genetic mechanism.
文摘Background:Epilepsy associated with Prader-Willi syndrome(PWS)represents an early and important complication,often not clearly reported and described in the literature.Consequently,there are controversial data about the clinical characteristics of epilepsy and electroencephalographic(EEG)abnormalities found in these patients.Data sources:Based on recent original publications,we have reviewed the different types of seizures and EEG findings in PWS patients,the response to antiepileptic treatment,and the prognosis of epilepsy.Results:The frequency of epilepsy in PWS patients ranges from 4%to 26%.The types of seizure include generalized tonic-clonic seizures,complex partial seizures,atypical absence,staring spells,and myoclonic,tonic and hemiclonic seizures,but the most frequent type is focal epilepsy.Status epilepticus has never been reported.EEG abnormalities are not typical but variable in different patients.However,generalized and focal discharges are the most frequently reported findings.There is no evidence of relationship between the course of epilepsy and frequency,morphology and spread of EEG discharges.However,epilepsy in PWS patients is usually responsive to antiepileptic monotherapy with rapid seizure control and a good outcome.Conclusions:The frequency of epilepsy is higher in PWS patients than in general populations and this complication can be a challenge for the clinicians of these patients.Prospective studies are needed to confirm the good long-term prognosis.
