Pub Date : 2025-10-30DOI: 10.1016/j.ejpn.2025.10.013
Ioanna Rizou , Antigone Papavasiliou , Henriët van Middendorp , Veronique De Gucht
Aim
The domains of Leventhal's Common Sense Model of Illness Representations have been linked to various physical and emotional outcomes in several health conditions. Research on illness perceptions among adults, and even more so among children and adolescents, with epilepsy remains limited. The present review aims to examine and compare the reported associations between illness perceptions and various outcomes in adults and children/adolescents with epilepsy.
Methods
A systematic search of PsychInfo, MEDLINE/PubMed, ScienceDirect Journals, and Science Citation Index Expanded was conducted. Studies that used the Illness Perception Questionnaire (IPQ), the Illness Perception Questionnaire Revised (IPQ-R) or the Brief Illness Perception Questionnaire (BIPQ) and were targeting adults or children/adolescents with epilepsy were included. Seventeen articles dealing with adult patients and four articles with children/adolescents met the inclusion criteria. A quality appraisal checklist was applied to the included articles.
Results
Most of the studies were cross-sectional. Summarizing the literature, illness perceptions were shown to be significantly associated with both physical and psychological outcomes. Some notable differences between adults and children/adolescents were discussed such as the fact that emotional representation was significantly associated with all variables investigated in children/adolescents, but not in adults.
Conclusions
The results of this review indicate the potential value of illness perceptions for future experimental and intervention studies in epilepsy research. Children and adolescents with epilepsy remain an underrepresented population in illness perceptions research, warranting specific attention considering differences shown. Recommendations for future research and for daily clinical practice are presented.
目的Leventhal的疾病表征常识模型的领域与几种健康状况下的各种身体和情绪结果有关。对成人，尤其是儿童和青少年癫痫患者疾病认知的研究仍然有限。本综述旨在检查和比较已报道的成人和儿童/青少年癫痫患者疾病认知与各种预后之间的关联。方法系统检索PsychInfo、MEDLINE/PubMed、ScienceDirect期刊和Science Citation Index Expanded。采用疾病感知问卷（IPQ）、疾病感知问卷修订（IPQ- r）或简短疾病感知问卷（BIPQ），针对成人或儿童/青少年癫痫患者的研究被纳入。17篇涉及成人患者的文章和4篇涉及儿童/青少年的文章符合纳入标准。对纳入的文章应用了质量评估清单。结果大多数研究为横断面研究。总结文献，疾病感知被证明与身体和心理结果显著相关。我们讨论了成人和儿童/青少年之间的一些显著差异，例如情绪表征与儿童/青少年调查的所有变量显著相关，但与成人无关。结论疾病认知对未来癫痫研究的实验和干预研究具有潜在价值。患有癫痫的儿童和青少年在疾病认知研究中仍然是一个代表性不足的人群，考虑到所显示的差异，需要特别注意。对今后的研究和日常临床实践提出了建议。
{"title":"The role of illness perceptions in epilepsy throughout the lifespan: A systematic review","authors":"Ioanna Rizou , Antigone Papavasiliou , Henriët van Middendorp , Veronique De Gucht","doi":"10.1016/j.ejpn.2025.10.013","DOIUrl":"10.1016/j.ejpn.2025.10.013","url":null,"abstract":"<div><h3>Aim</h3><div>The domains of Leventhal's Common Sense Model of Illness Representations have been linked to various physical and emotional outcomes in several health conditions. Research on illness perceptions among adults, and even more so among children and adolescents, with epilepsy remains limited. The present review aims to examine and compare the reported associations between illness perceptions and various outcomes in adults and children/adolescents with epilepsy.</div></div><div><h3>Methods</h3><div>A systematic search of PsychInfo, MEDLINE/PubMed, ScienceDirect Journals, and Science Citation Index Expanded was conducted. Studies that used the Illness Perception Questionnaire (IPQ), the Illness Perception Questionnaire Revised (IPQ-R) or the Brief Illness Perception Questionnaire (BIPQ) and were targeting adults or children/adolescents with epilepsy were included. Seventeen articles dealing with adult patients and four articles with children/adolescents met the inclusion criteria. A quality appraisal checklist was applied to the included articles.</div></div><div><h3>Results</h3><div>Most of the studies were cross-sectional. Summarizing the literature, illness perceptions were shown to be significantly associated with both physical and psychological outcomes. Some notable differences between adults and children/adolescents were discussed such as the fact that emotional representation was significantly associated with all variables investigated in children/adolescents, but not in adults.</div></div><div><h3>Conclusions</h3><div>The results of this review indicate the potential value of illness perceptions for future experimental and intervention studies in epilepsy research. Children and adolescents with epilepsy remain an underrepresented population in illness perceptions research, warranting specific attention considering differences shown. Recommendations for future research and for daily clinical practice are presented.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"60 ","pages":"Pages 1-14"},"PeriodicalIF":2.3,"publicationDate":"2025-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145425767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-22DOI: 10.1016/j.ejpn.2025.10.010
Ann-Louise Esserlind , Lisbeth Samsø Schmidt , Gitte Rønde , Maria Miranda , Lotte Jensen , Julie Brix Bindslev , Alfred Peter Born , Nadja Hawwa Vissing , Frederik Trier Møller , Jacob Elskær Mollerup , Malene Landbo Børresen
Background
Varicella Zoster Virus (VZV) associated Acute Ischemic Stroke (AIS) in pediatric populations is a rare and potentially underrecognized condition. The global COVID-19 pandemic has led to significant changes in infectious disease patterns, including possible impacts on the incidence of VZV infections. This study describes the incidence of VZV associated AIS in Denmark from 2013 to 2023 using national surveillance data from Denmark. Furthermore, the study investigates a cluster of VZV-associated AIS cases identified over a 10-month period in 2022 in a geographically confined area north-west of Copenhagen, Denmark, following the lifting of COVID-19 restrictions.
Methods
We analyzed national surveillance data on cerebral spinal fluid samples and VZV and AIS diagnoses in nationwide patient registries to estimate the incidence of VZV associated AIS pre, during and post- COVID era in Denmark. To evaluate the clinical disease severity and risk factors and outcome in the post-COVID era we conducted a retrospective case series analysis of four pediatric patients diagnosed with VZV-associated AIS from Greater Copenhagen.
Results
Our analysis revealed a notable clustering of VZV-associated AIS cases nationwide, suggesting an increased incidence in Denmark after COVID-19 restrictions were lifted. Clinical presentations of our cases were comparable with the pre-COVID era and did not suggest a more virulent VZV subtype.
Conclusion
The observed cluster of pediatric VZV-associated AIS cases post-COVID-19 restrictions and national survey data showed a rise in incidence which could reflect an increase in VZV disease due to diminished herd immunity post-COVID 19. The clinical presentations of VZV associated AIS were in keeping with previous reports and the clinical presentations were both unspecific and transient in character.
{"title":"Pediatric varicella zoster virus associated arterial ischemic stroke – A post-pandemic rise in incidence in Denmark","authors":"Ann-Louise Esserlind , Lisbeth Samsø Schmidt , Gitte Rønde , Maria Miranda , Lotte Jensen , Julie Brix Bindslev , Alfred Peter Born , Nadja Hawwa Vissing , Frederik Trier Møller , Jacob Elskær Mollerup , Malene Landbo Børresen","doi":"10.1016/j.ejpn.2025.10.010","DOIUrl":"10.1016/j.ejpn.2025.10.010","url":null,"abstract":"<div><h3>Background</h3><div>Varicella Zoster Virus (VZV) associated Acute Ischemic Stroke (AIS) in pediatric populations is a rare and potentially underrecognized condition. The global COVID-19 pandemic has led to significant changes in infectious disease patterns, including possible impacts on the incidence of VZV infections. This study describes the incidence of VZV associated AIS in Denmark from 2013 to 2023 using national surveillance data from Denmark. Furthermore, the study investigates a cluster of VZV-associated AIS cases identified over a 10-month period in 2022 in a geographically confined area north-west of Copenhagen, Denmark, following the lifting of COVID-19 restrictions.</div></div><div><h3>Methods</h3><div>We analyzed national surveillance data on cerebral spinal fluid samples and VZV and AIS diagnoses in nationwide patient registries to estimate the incidence of VZV associated AIS pre, during and post- COVID era in Denmark. To evaluate the clinical disease severity and risk factors and outcome in the post-COVID era we conducted a retrospective case series analysis of four pediatric patients diagnosed with VZV-associated AIS from Greater Copenhagen.</div></div><div><h3>Results</h3><div>Our analysis revealed a notable clustering of VZV-associated AIS cases nationwide, suggesting an increased incidence in Denmark after COVID-19 restrictions were lifted. Clinical presentations of our cases were comparable with the pre-COVID era and did not suggest a more virulent VZV subtype.</div></div><div><h3>Conclusion</h3><div>The observed cluster of pediatric VZV-associated AIS cases post-COVID-19 restrictions and national survey data showed a rise in incidence which could reflect an increase in VZV disease due to diminished herd immunity post-COVID 19. The clinical presentations of VZV associated AIS were in keeping with previous reports and the clinical presentations were both unspecific and transient in character.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"59 ","pages":"Pages 100-106"},"PeriodicalIF":2.3,"publicationDate":"2025-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145363120","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-17DOI: 10.1016/j.ejpn.2025.10.007
Suman Das , Madhumita Nandi
Introduction
The evolving spectrum of acute leukoencephalopathy with restricted diffusion (ALERD) in Indian children is distinct from that of their Japanese counterparts.
Methods
This study enrolled children presenting with febrile infection-related epilepsy syndrome (FIRES) and radiological features of ALERD between May 2022 and April 2024. Intergroup comparisons were performed between the ‘diffuse’ versus ‘multifocal’ and the ‘symmetrical’ versus ‘asymmetrical’ diffusion restriction groups. Seizures recurring three months after discharge were designated as post-encephalopathic epilepsy (PEE). The outcome measures included the paediatric modified Rankin score (mRS) and development/intelligence quotients at the 12-month follow-up.
Results
This study enrolled 38 children, whose mean (standard deviation) age was 6.77 (3.22) years. Diffuse and multifocal ALERD occurred in 29 % and 71 % of children, respectively; the lesions were symmetrical and asymmetrical among 37 % and 63 % of children, respectively. The mRS score was <2 in 18 % of children, whereas intellectual disabilities and PEE were noted among 50 % and 42 % of children, respectively. Age under six years was a significant predictor of diffuse and symmetrical ALERD. Pearson analysis revealed significant positive correlations of the diffusion-weighted imaging scores, prolonged persistence of diffusion restriction, and seizure duration exceeding 2 h with the mRS scores.
Conclusion
The children had a monophasic course and a higher frequency of multifocal and asymmetric ALERD. The nature of ALERD lesions did not influence the occurrence of PEE, although unilateral lesions had better outcomes. Children with a radiographic signature of ALERD constitute a unique subset of FIRES, with distinct therapeutic responses and long-term outcomes.
{"title":"The spectrum of pediatric acute leukoencephalopathy with restricted diffusion presenting as febrile infection-related refractory epilepsy syndrome","authors":"Suman Das , Madhumita Nandi","doi":"10.1016/j.ejpn.2025.10.007","DOIUrl":"10.1016/j.ejpn.2025.10.007","url":null,"abstract":"<div><h3>Introduction</h3><div>The evolving spectrum of acute leukoencephalopathy with restricted diffusion (ALERD) in Indian children is distinct from that of their Japanese counterparts.</div></div><div><h3>Methods</h3><div>This study enrolled children presenting with febrile infection-related epilepsy syndrome (FIRES) and radiological features of ALERD between May 2022 and April 2024. Intergroup comparisons were performed between the ‘diffuse’ versus ‘multifocal’ and the ‘symmetrical’ versus ‘asymmetrical’ diffusion restriction groups. Seizures recurring three months after discharge were designated as post-encephalopathic epilepsy (PEE). The outcome measures included the paediatric modified Rankin score (mRS) and development/intelligence quotients at the 12-month follow-up.</div></div><div><h3>Results</h3><div>This study enrolled 38 children, whose mean (standard deviation) age was 6.77 (3.22) years. Diffuse and multifocal ALERD occurred in 29 % and 71 % of children, respectively; the lesions were symmetrical and asymmetrical among 37 % and 63 % of children, respectively. The mRS score was <2 in 18 % of children, whereas intellectual disabilities and PEE were noted among 50 % and 42 % of children, respectively. Age under six years was a significant predictor of diffuse and symmetrical ALERD. Pearson analysis revealed significant positive correlations of the diffusion-weighted imaging scores, prolonged persistence of diffusion restriction, and seizure duration exceeding 2 h with the mRS scores.</div></div><div><h3>Conclusion</h3><div>The children had a monophasic course and a higher frequency of multifocal and asymmetric ALERD. The nature of ALERD lesions did not influence the occurrence of PEE, although unilateral lesions had better outcomes. Children with a radiographic signature of ALERD constitute a unique subset of FIRES, with distinct therapeutic responses and long-term outcomes.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"59 ","pages":"Pages 82-91"},"PeriodicalIF":2.3,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145356668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-16DOI: 10.1016/j.ejpn.2025.10.004
L. Blumkin , A. Hauptman , S. Ravid , Z. Elyoseph , Y. Shimoni , S. Ash , H. Weisblum Neuman , B. Odnopozov , A. Nissenkorn , T. Lerman-Sagie , T. Gur-Hartman
Background
Opsoclonus-myoclonus-ataxia syndrome (OMS) is a rare pediatric immune-mediated disorder characterized by motor and behavioral disturbances, often with regression of previously acquired skills. While aggressive immunotherapy has improved motor outcomes, long-term cognitive and affective sequelae remain present.
Objective
To evaluate long-term motor, cognitive, affective, and communication outcomes in patients with sustained OMS remission treated with a unified immunotherapy protocol, with a specific focus on the presence and trajectory of Cerebellar Cognitive Affective Syndrome (CCAS).
Methods
Sixteen patients with OMS and ≥4 years of sustained remission were evaluated using standardized neurological, cognitive, and behavioral assessments. CCAS severity was assessed retrospectively at onset and categorized at outcome based on neuropsychological and behavioral data. Correlational analyses explored associations between clinical variables and functional outcomes.
Results
All patients demonstrated OMS remission; however, 50 % exhibited residual, mild motor symptoms. Cognitive impairments were present in 37.5 % of patients, with 25 % showing moderate to severe intellectual disability. Communication difficulties were reported in 37 %, and 50 % screened positive for anxiety. CCAS features were identified in all patients at onset and persisted in 50 % at outcome. Worse cognitive and motor outcomes were significantly associated with delayed treatment initiation, higher relapse frequency, and greater CCAS severity at onset.
Conclusions
Despite remission of core motor symptoms, many OMS patients experience persistent CCAS-related cognitive, affective, and communication deficits. Our findings support the use of early CCAS assessment as a prognostic indicator, the development of an age-appropriate CCAS assessment tool for young children, and the inclusion of CCAS features in OMS diagnostic criteria.
{"title":"Motor, cognitive, affective, and communication outcomes in patients with sustained remission of opsoclonus-myoclonus-ataxia syndrome","authors":"L. Blumkin , A. Hauptman , S. Ravid , Z. Elyoseph , Y. Shimoni , S. Ash , H. Weisblum Neuman , B. Odnopozov , A. Nissenkorn , T. Lerman-Sagie , T. Gur-Hartman","doi":"10.1016/j.ejpn.2025.10.004","DOIUrl":"10.1016/j.ejpn.2025.10.004","url":null,"abstract":"<div><h3>Background</h3><div>Opsoclonus-myoclonus-ataxia syndrome (OMS) is a rare pediatric immune-mediated disorder characterized by motor and behavioral disturbances, often with regression of previously acquired skills. While aggressive immunotherapy has improved motor outcomes, long-term cognitive and affective sequelae remain present.</div></div><div><h3>Objective</h3><div>To evaluate long-term motor, cognitive, affective, and communication outcomes in patients with sustained OMS remission treated with a unified immunotherapy protocol, with a specific focus on the presence and trajectory of Cerebellar Cognitive Affective Syndrome (CCAS).</div></div><div><h3>Methods</h3><div>Sixteen patients with OMS and ≥4 years of sustained remission were evaluated using standardized neurological, cognitive, and behavioral assessments. CCAS severity was assessed retrospectively at onset and categorized at outcome based on neuropsychological and behavioral data. Correlational analyses explored associations between clinical variables and functional outcomes.</div></div><div><h3>Results</h3><div>All patients demonstrated OMS remission; however, 50 % exhibited residual, mild motor symptoms. Cognitive impairments were present in 37.5 % of patients, with 25 % showing moderate to severe intellectual disability. Communication difficulties were reported in 37 %, and 50 % screened positive for anxiety. CCAS features were identified in all patients at onset and persisted in 50 % at outcome. Worse cognitive and motor outcomes were significantly associated with delayed treatment initiation, higher relapse frequency, and greater CCAS severity at onset.</div></div><div><h3>Conclusions</h3><div>Despite remission of core motor symptoms, many OMS patients experience persistent CCAS-related cognitive, affective, and communication deficits. Our findings support the use of early CCAS assessment as a prognostic indicator, the development of an age-appropriate CCAS assessment tool for young children, and the inclusion of CCAS features in OMS diagnostic criteria.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"59 ","pages":"Pages 74-81"},"PeriodicalIF":2.3,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145318719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-16DOI: 10.1016/j.ejpn.2025.10.008
Costanza Varesio , Valeria Vacchini , Massimiliano Celario , Miriam Paola Pili , Ludovica Pasca , Carlo Alberto Quaranta , Francesca Ferraro , Martina Maria Mensi , Chiara Conti , Martina Paola Zanaboni , Valentina De Giorgis
Background
Glucose Transporter Type 1 Syndrome (GLUT1DS) is a rare neurometabolic disease caused by mutations in the SLC2A1 gene, that limits the transport of glucose across the blood-brain barrier. Epilepsy, intellectual disability, movement disorders and coordination disorder are common characteristics found in the syndrome.
Objectives
This study aims to describe the motor profile in a cohort of patients with GLUT1DS throughout the administration of Movement Assessment Battery for Children version 2 (MABC-2).
Methods
The MABC-2 test was assessed in 31 patients with GLUT1DS.
Results
Our sample performed in the clinical range across all the subscales and summary scores of the MABC-2 Test demonstrated an impaired motor performance.
Conclusions
Despite the use of use of MABC-2 scores in adults despite age-related norms, and the potential influence of cognitive impairments on task comprehension and performance, which may affect the interpretation of motor outcomes we observed that patients with more complex and severe clinical pictures are those with major motor impairment. The high percentage of impaired performances in motor functioning observed in our population may have significant implications in terms of their long-term health and well being. Early identification of patient with GLUT1DS at risk of motor impairment is crucial to activate interventions to support cognitive, social and emotional development of the patient.
{"title":"GLUT1DS: focus on motor profile","authors":"Costanza Varesio , Valeria Vacchini , Massimiliano Celario , Miriam Paola Pili , Ludovica Pasca , Carlo Alberto Quaranta , Francesca Ferraro , Martina Maria Mensi , Chiara Conti , Martina Paola Zanaboni , Valentina De Giorgis","doi":"10.1016/j.ejpn.2025.10.008","DOIUrl":"10.1016/j.ejpn.2025.10.008","url":null,"abstract":"<div><h3>Background</h3><div>Glucose Transporter Type 1 Syndrome (GLUT1DS) is a rare neurometabolic disease caused by mutations in the SLC2A1 gene, that limits the transport of glucose across the blood-brain barrier. Epilepsy, intellectual disability, movement disorders and coordination disorder are common characteristics found in the syndrome.</div></div><div><h3>Objectives</h3><div>This study aims to describe the motor profile in a cohort of patients with GLUT1DS throughout the administration of Movement Assessment Battery for Children version 2 (MABC-2).</div></div><div><h3>Methods</h3><div>The MABC-2 test was assessed in 31 patients with GLUT1DS.</div></div><div><h3>Results</h3><div>Our sample performed in the clinical range across all the subscales and summary scores of the MABC-2 Test demonstrated an impaired motor performance.</div></div><div><h3>Conclusions</h3><div>Despite the use of use of MABC-2 scores in adults despite age-related norms, and the potential influence of cognitive impairments on task comprehension and performance, which may affect the interpretation of motor outcomes we observed that patients with more complex and severe clinical pictures are those with major motor impairment. The high percentage of impaired performances in motor functioning observed in our population may have significant implications in terms of their long-term health and well being. Early identification of patient with GLUT1DS at risk of motor impairment is crucial to activate interventions to support cognitive, social and emotional development of the patient.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"59 ","pages":"Pages 92-99"},"PeriodicalIF":2.3,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145356628","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tuberous Sclerosis Complex (TSC) is a rare, multisystem genetic disorder with highly variable clinical manifestations. While international registries such as TOSCA have provided large-scale data, national-level studies remain limited. This study represents the first national cohort analysis of TSC patients in Greece, providing comprehensive insights into clinical characteristics, genotype-phenotype correlations, and previously underreported rare manifestations.
Methods
A descriptive analysis was conducted on 115 TSC patients diagnosed based on the latest criteria. Clinical, genetic, and treatment-related data were analysed, with a particular focus on neurological, renal, cardiac, dermatological, and pulmonary manifestations, as well as rare or atypical disease presentations.
Results
The median age at diagnosis was 1.2 years (range: 0–43 years). Epilepsy was the most frequent initial symptom (70.4 %), with drug-resistant epilepsy (DRE) affecting 39.5 % of cases. Intellectual disability, autism spectrum disorder, and behavioral issues correlated significantly with early seizure onset and TSC2 variants. Common manifestations include cortical tubers (93.9 %), subependymal nodules (92.2 %), angiomyolipomas (48.7 %), and cardiac rhabdomyoma (33 %). Notably, we report several rare manifestations, including high-grade glioma in a pediatric patient, diffuse lipomatosis, pancreatic neuroendocrine tumours, rectal polyps, and erythema nodosum presented in a patient on everolimus therapy, further highlighting the systemic complexity and malignancy risks in TSC.
Conclusions
Our study provides novel epidemiological and clinical data on TSC in Greece, reinforcing genotype-phenotype correlations and expanding the spectrum of rare manifestations. These findings emphasise the need for lifelong surveillance, multidisciplinary management, and early detection strategies to mitigate long-term complications. This study also contributes to the broader understanding of TSC by documenting atypical presentations that may inform future clinical guidelines and patient care strategies.
{"title":"\"Tuberous sclerosis in Greece: A national cohort study on clinical features and rare manifestations\"","authors":"Maria Spanou , Vasileios Skoutelis , Zacharias Dimitriadis , Eleftheria Kokkinou , Konstantina Kosma , Pelagia Vorgia , Kleoniki Roka , Georgios Niotakis , Polyxeni Pelekouda , Christina Sidira , Maria Kyriazi , Chrysanthi Tsimakidi , Minas Kapetanakis , Thomas Mprantzos , Anastasios Mitrakos , Stella Mouskou , Pinelopi Dragoumi , Konstantinos Voudris , Charalambos Kotsalis , Evangelos Pavlou , Argirios Dinopoulos","doi":"10.1016/j.ejpn.2025.10.005","DOIUrl":"10.1016/j.ejpn.2025.10.005","url":null,"abstract":"<div><h3>Background</h3><div>Tuberous Sclerosis Complex (TSC) is a rare, multisystem genetic disorder with highly variable clinical manifestations. While international registries such as TOSCA have provided large-scale data, national-level studies remain limited. This study represents the first national cohort analysis of TSC patients in Greece, providing comprehensive insights into clinical characteristics, genotype-phenotype correlations, and previously underreported rare manifestations.</div></div><div><h3>Methods</h3><div>A descriptive analysis was conducted on 115 TSC patients diagnosed based on the latest criteria. Clinical, genetic, and treatment-related data were analysed, with a particular focus on neurological, renal, cardiac, dermatological, and pulmonary manifestations, as well as rare or atypical disease presentations.</div></div><div><h3>Results</h3><div>The median age at diagnosis was 1.2 years (range: 0–43 years). Epilepsy was the most frequent initial symptom (70.4 %), with drug-resistant epilepsy (DRE) affecting 39.5 % of cases. Intellectual disability, autism spectrum disorder, and behavioral issues correlated significantly with early seizure onset and <em>TSC2</em> variants. Common manifestations include cortical tubers (93.9 %), subependymal nodules (92.2 %), angiomyolipomas (48.7 %), and cardiac rhabdomyoma (33 %). Notably, we report several rare manifestations, including high-grade glioma in a pediatric patient, diffuse lipomatosis, pancreatic neuroendocrine tumours, rectal polyps, and erythema nodosum presented in a patient on everolimus therapy, further highlighting the systemic complexity and malignancy risks in TSC.</div></div><div><h3>Conclusions</h3><div>Our study provides novel epidemiological and clinical data on TSC in Greece, reinforcing genotype-phenotype correlations and expanding the spectrum of rare manifestations. These findings emphasise the need for lifelong surveillance, multidisciplinary management, and early detection strategies to mitigate long-term complications. This study also contributes to the broader understanding of TSC by documenting atypical presentations that may inform future clinical guidelines and patient care strategies.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"59 ","pages":"Pages 60-73"},"PeriodicalIF":2.3,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145318943","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Vitamin B12 deficiency in infancy can lead to global developmental delay or regression along with skin pigmentation, hair changes and tremors, commonly known as the infantile tremor syndrome (ITS). Although a treatable entity, the data on the long-term neuro-developmental outcomes of these infants is lacking. In this cross-sectional study, a follow-up cohort of 35 children (aged ≥2 years) with ITS, were assessed for neuro-developmental outcomes using Malin's adaptation of the Vineland Social Maturity Scale (VSMS). A total of 35 children (17 males) were enrolled. The mean age at the social quotient (SQ) assessment was 30 months (SD 7.4). The mean duration of follow-up was 16.3 months (SD 8.3). Only 9 cases (26 %) had an SQ in the average range (85–105), while 18 children (51 %) had a borderline disability (SQ, 70–84). Seven children had an SQ in the mild disability range (55–69), and one child had an SQ of <55. Despite rapid improvement in the immediate post-treatment phase, these infants have significant developmental delays in follow-up.
{"title":"Neuro-developmental outcomes in infants with vitamin B12-deficiency and neurologic features","authors":"Juhi Gupta , Pragati Jeenwal , Sayoni Roy Chawdhary , Richa Choudhary , Ankita Gupta , Gunjan Solanki , R.N. Sehra , Kusum Devpura","doi":"10.1016/j.ejpn.2025.10.003","DOIUrl":"10.1016/j.ejpn.2025.10.003","url":null,"abstract":"<div><div>Vitamin B12 deficiency in infancy can lead to global developmental delay or regression along with skin pigmentation, hair changes and tremors, commonly known as the infantile tremor syndrome (ITS). Although a treatable entity, the data on the long-term neuro-developmental outcomes of these infants is lacking. In this cross-sectional study, a follow-up cohort of 35 children (aged ≥2 years) with ITS, were assessed for neuro-developmental outcomes using Malin's adaptation of the Vineland Social Maturity Scale (VSMS). A total of 35 children (17 males) were enrolled. The mean age at the social quotient (SQ) assessment was 30 months (SD 7.4). The mean duration of follow-up was 16.3 months (SD 8.3). Only 9 cases (26 %) had an SQ in the average range (85–105), while 18 children (51 %) had a borderline disability (SQ, 70–84). Seven children had an SQ in the mild disability range (55–69), and one child had an SQ of <55. Despite rapid improvement in the immediate post-treatment phase, these infants have significant developmental delays in follow-up.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"59 ","pages":"Pages 107-113"},"PeriodicalIF":2.3,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145363121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-10DOI: 10.1016/j.ejpn.2025.10.002
Eva-Maria Wendel , John J. Chen , Annikki Bertolini , Astrid Blaschek , Fabienne Brilot , Russell C. Dale , Kumaran Deiva , Eoin P. Flanagan , Thomas Foiadelli , Laetitia Giorgi , Saif Huda , Michael Karenfort , Rachel Kneen , Vanessa Lee , Ming Lim , Sara Mariotto , Hadas Meirson , Maha Z. Mohammed , Margherita Nosadini , Sudarshini Ramanathan , Kevin Rostasy
Background
Data regarding treatment in pediatric relapsing MOGAD are limited.
Objective
To evaluate response of intravenous immunoglobulin (IVIG) compared to other therapies in relapsing pediatric MOGAD.
Methods
In this retrospective multicenter study, children with MOGAD were recruited from different medical centers. Inclusion criteria encompassed: age <18 years, MOGAD diagnosis, relapsing disease course, >6 months of maintenance treatment and >12 months follow-up.
Results
Seventy children with relapsing MOGAD were stratified into two groups. The first group received IVIG alone (n = 23), IVIG preceded by (n = 16) or in combination with other immunomodulating therapies (IMT) (n = 7). The second group received mycophenolate mofetil, azathioprine, rituximab, or other IMTs (n = 24). 13 % (6/46) of patients with IVIG relapsed in the first year, compared to 33 % (8/24) in the IMT group (relative risk 0.70, 95 % CI 0.53 to 0.99, p = 0.061). Annual relapse rate (ARR) was decreased under therapy compared to pre-treatment in both groups (IVIG: p < 0.001; other IMTs: p = 0.006). ARR was lower in the IVIG group (p = 0.040) in addition to a reduced risk of an early relapse compared to the other IMT group (hazard ratio 0.36, 95 % CI 0.15 to 0.87, p = 0.023).
Conclusion
Our study supports monthly IVIG as maintenance therapy in children after the second MOGAD episode.
背景：关于儿童复发性MOGAD治疗的数据有限。目的：评价静脉注射免疫球蛋白（IVIG）治疗小儿复发性MOGAD的疗效。方法：在这项回顾性多中心研究中，从不同的医疗中心招募了患有MOGAD的儿童。纳入标准包括：年龄6个月维持治疗和>12个月随访。结果：70例复发性MOGAD患儿分为两组。第一组仅接受IVIG治疗（n = 23）， IVIG治疗前（n = 16）或联合其他免疫调节疗法（IMT）治疗（n = 7）。第二组接受霉酚酸酯、硫唑嘌呤、利妥昔单抗或其他imt治疗（n = 24）。13%（6/46）的IVIG患者在第一年复发，而IMT组为33%(8/24)（相对危险度0.70,95% CI 0.53 ~ 0.99, p = 0.061）。与治疗前相比，治疗后两组的年复发率（ARR）均有所下降（IVIG: p）。结论：我们的研究支持每月IVIG作为儿童第二次MOGAD发作后的维持治疗。
{"title":"Treatment response in children with relapsing MOG-antibody associated disease","authors":"Eva-Maria Wendel , John J. Chen , Annikki Bertolini , Astrid Blaschek , Fabienne Brilot , Russell C. Dale , Kumaran Deiva , Eoin P. Flanagan , Thomas Foiadelli , Laetitia Giorgi , Saif Huda , Michael Karenfort , Rachel Kneen , Vanessa Lee , Ming Lim , Sara Mariotto , Hadas Meirson , Maha Z. Mohammed , Margherita Nosadini , Sudarshini Ramanathan , Kevin Rostasy","doi":"10.1016/j.ejpn.2025.10.002","DOIUrl":"10.1016/j.ejpn.2025.10.002","url":null,"abstract":"<div><h3>Background</h3><div>Data regarding treatment in pediatric relapsing MOGAD are limited.</div></div><div><h3>Objective</h3><div>To evaluate response of intravenous immunoglobulin (IVIG) compared to other therapies in relapsing pediatric MOGAD.</div></div><div><h3>Methods</h3><div>In this retrospective multicenter study, children with MOGAD were recruited from different medical centers. Inclusion criteria encompassed: age <18 years, MOGAD diagnosis, relapsing disease course, >6 months of maintenance treatment and >12 months follow-up.</div></div><div><h3>Results</h3><div>Seventy children with relapsing MOGAD were stratified into two groups. The first group received IVIG alone (n = 23), IVIG preceded by (n = 16) or in combination with other immunomodulating therapies (IMT) (n = 7). The second group received mycophenolate mofetil, azathioprine, rituximab, or other IMTs (n = 24). 13 % (6/46) of patients with IVIG relapsed in the first year, compared to 33 % (8/24) in the IMT group (relative risk 0.70, 95 % CI 0.53 to 0.99, p = 0.061). Annual relapse rate (ARR) was decreased under therapy compared to pre-treatment in both groups (IVIG: p < 0.001; other IMTs: p = 0.006). ARR was lower in the IVIG group (p = 0.040) in addition to a reduced risk of an early relapse compared to the other IMT group (hazard ratio 0.36, 95 % CI 0.15 to 0.87, p = 0.023).</div></div><div><h3>Conclusion</h3><div>Our study supports monthly IVIG as maintenance therapy in children after the second MOGAD episode.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"59 ","pages":"Pages 45-51"},"PeriodicalIF":2.3,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145304449","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-03DOI: 10.1016/j.ejpn.2025.10.001
Jielu Ren , Yicheng Yu , Xinli Zou , Yijie Feng, Danhui Zhu, Yue Yan, Liya Jiang, Jianing Jin, Siyi Huang, Feng Gao, Shanshan Mao
Background
The search for convenient and effective biomarkers is a critical and pressing need for spinal muscular atrophy (SMA) in the era of disease-modifying treatment.
Methods
Data from 65 SMA children treated with nusinersen and followed up for 18 months were retrospectively collected. Motor function was assessed at baseline, 6, 10, 14 and 18 months using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND), the Hammersmith Functional Motor Scale Expanded (HFMSE), and the Revised Upper Limb Module (RULM). Serum creatine kinase (CK) and creatinine (Crn) levels were measured, and the correlations were further analyzed.
Results
Significant differences in CK and Crn levels were found among different types before treatment. Baseline CK levels in children with SMA type 3 were higher than those with types 1 and 2 (P = 0.008 and 0.042, respectively), while baseline Crn levels were higher in type 3 than in type 2 (P < 0.001). During the follow-up, baseline Crn levels in types 2 and 3 patients with clinically meaningful improvements in HFMSE scores were higher than those without such improvements (P = 0.013). Additionally, a correlation was observed between HFMSE scores and CK and Crn levels in types 2 and 3 patients (CK: P < 0.001, ρ = 0.473; Crn: P < 0.001, ρ = 0.642). RULM scores were correlated with Crn levels (P < 0.001, ρ = 0.642).
Conclusions
Serum CK and Crn levels appear to correlate with clinical severity in later-onset SMA. Moreover, baseline serum Crn may serve as a potential biomarker for predicting the degree of motor function improvement under nusinersen treatment in children with later-onset SMA.
{"title":"Value of creatine kinase and creatinine as biomarkers in nusinersen-treated children with spinal muscular atrophy","authors":"Jielu Ren , Yicheng Yu , Xinli Zou , Yijie Feng, Danhui Zhu, Yue Yan, Liya Jiang, Jianing Jin, Siyi Huang, Feng Gao, Shanshan Mao","doi":"10.1016/j.ejpn.2025.10.001","DOIUrl":"10.1016/j.ejpn.2025.10.001","url":null,"abstract":"<div><h3>Background</h3><div>The search for convenient and effective biomarkers is a critical and pressing need for spinal muscular atrophy (SMA) in the era of disease-modifying treatment.</div></div><div><h3>Methods</h3><div>Data from 65 SMA children treated with nusinersen and followed up for 18 months were retrospectively collected. Motor function was assessed at baseline, 6, 10, 14 and 18 months using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND), the Hammersmith Functional Motor Scale Expanded (HFMSE), and the Revised Upper Limb Module (RULM). Serum creatine kinase (CK) and creatinine (Crn) levels were measured, and the correlations were further analyzed.</div></div><div><h3>Results</h3><div>Significant differences in CK and Crn levels were found among different types before treatment. Baseline CK levels in children with SMA type 3 were higher than those with types 1 and 2 (<em>P</em> = 0.008 and 0.042, respectively), while baseline Crn levels were higher in type 3 than in type 2 (<em>P</em> < 0.001). During the follow-up, baseline Crn levels in types 2 and 3 patients with clinically meaningful improvements in HFMSE scores were higher than those without such improvements (<em>P</em> = 0.013). Additionally, a correlation was observed between HFMSE scores and CK and Crn levels in types 2 and 3 patients (CK: <em>P</em> < 0.001, ρ = 0.473; Crn: <em>P</em> < 0.001, ρ = 0.642). RULM scores were correlated with Crn levels (<em>P</em> < 0.001, ρ = 0.642).</div></div><div><h3>Conclusions</h3><div>Serum CK and Crn levels appear to correlate with clinical severity in later-onset SMA. Moreover, baseline serum Crn may serve as a potential biomarker for predicting the degree of motor function improvement under nusinersen treatment in children with later-onset SMA.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"59 ","pages":"Pages 38-44"},"PeriodicalIF":2.3,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145253521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-02DOI: 10.1016/j.ejpn.2025.09.007
Suzanne Gough , Emma Cooke , Adrian Goldsworthy , Maria Carmen Miguel , James Birt , Oliver Baumann , Jasneek Chawla
Objective
This research sought to understand the experiences of healthcare providers working at the coalface of paediatric sleep medicine in a large tertiary children's hospital with a focus on the current service needs, challenges, and strategies.
Method
This qualitative study utilised semi-structured focus groups undertaken in an Australian tertiary paediatric sleep medicine department. There were 17 participants, encompassing paediatric sleep medicine specialists, clinical nurses, sleep scientists and administrative staff. Focus group interviews were transcribed verbatim, and member checked. Thematic analysis was undertaken.
Results
Three themes were identified: 1) Patient care optimisation, 2) Families' unrealistic expectations for their child's diagnostic testing and treatment adherence, 3) Families' difficult experiences with diagnostic and specific sleep therapies.
Conclusion
This study provides unique insights and perspectives of healthcare providers regarding the current challenges faced within the growing demand and complexity of patients accessing paediatric sleep medicine service. Despite clinicians optimising sleep medicine services, wait lists continue to grow, which in turn impact staff workload and patient care. Innovation in areas of sleep diagnostics, monitoring and therapy continue to be explored by tertiary services. Education and training for both primary healthcare providers and the public are still urgently required to optimise sleep and sleep disorders.
{"title":"Optimising patient care, expectations and experiences: Healthcare providers’ experiences of delivering sleep medicine services within an Australian tertiary paediatric facility","authors":"Suzanne Gough , Emma Cooke , Adrian Goldsworthy , Maria Carmen Miguel , James Birt , Oliver Baumann , Jasneek Chawla","doi":"10.1016/j.ejpn.2025.09.007","DOIUrl":"10.1016/j.ejpn.2025.09.007","url":null,"abstract":"<div><h3>Objective</h3><div>This research sought to understand the experiences of healthcare providers working at the coalface of paediatric sleep medicine in a large tertiary children's hospital with a focus on the current service needs, challenges, and strategies.</div></div><div><h3>Method</h3><div>This qualitative study utilised semi-structured focus groups undertaken in an Australian tertiary paediatric sleep medicine department. There were 17 participants, encompassing paediatric sleep medicine specialists, clinical nurses, sleep scientists and administrative staff. Focus group interviews were transcribed verbatim, and member checked. Thematic analysis was undertaken.</div></div><div><h3>Results</h3><div>Three themes were identified: 1) Patient care optimisation, 2) Families' unrealistic expectations for their child's diagnostic testing and treatment adherence, 3) Families' difficult experiences with diagnostic and specific sleep therapies<strong>.</strong></div></div><div><h3>Conclusion</h3><div>This study provides unique insights and perspectives of healthcare providers regarding the current challenges faced within the growing demand and complexity of patients accessing paediatric sleep medicine service. Despite clinicians optimising sleep medicine services, wait lists continue to grow, which in turn impact staff workload and patient care. Innovation in areas of sleep diagnostics, monitoring and therapy continue to be explored by tertiary services. Education and training for both primary healthcare providers and the public are still urgently required to optimise sleep and sleep disorders.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"59 ","pages":"Pages 31-37"},"PeriodicalIF":2.3,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145253569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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