Pub Date : 2024-11-01DOI: 10.1016/j.ejpn.2024.10.002
Sarah R. Rudebeck, Michael Eyre
{"title":"Reassuring neuropsychological outcome data in myelin oligodendrocyte glycoprotein antibody-associated disease","authors":"Sarah R. Rudebeck, Michael Eyre","doi":"10.1016/j.ejpn.2024.10.002","DOIUrl":"10.1016/j.ejpn.2024.10.002","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Page A6"},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142479671","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 : 2024-11-01DOI: 10.1016/j.ejpn.2024.10.011
Elizabeth G. Neal , Victoria J. Whiteley , Elles van der Louw , Anita M. Devlin , Christin Eltze , Suresh Pujar , Zoe Simpson , Isobel Hardy , Alison Palmer , Agnieszka Szmurlo , Alasdair PJ. Parker , Nicole Mills , Ruth Ord , Lieven Lagae , Kristel Vande Kerckhove , Sarita van den Berg , J Helen Cross , Natasha E. Schoeler
We aimed to develop a registry (‘Keto-Reg’) for individuals with epilepsy referred for ketogenic dietary therapy (KDT) and to test feasibility of its implementation. The purpose of the registry is to provide a platform for collaborative research to answer specific research questions regarding long-term clinical and safety outcomes and to identify the most suitable candidates for KDT.
Registry data items were determined via an international Delphi survey of KDT healthcare professionals, and then entered into an electronic platform. Three UK and two other European KDT centres entered data for 10 ‘patients’ and reported on its acceptability and feasibility of use via questionnaire. 25 % of data was validated against medical records. A national survey was distributed and 19 parents and four young people were interviewed about a potential future patient/family section to the registry.
Healthcare professionals from six continents responded to the Delphi (n = 153 round 1, n = 79 round 2); 70 items reached the agreement threshold. Registry data entry was accurate (0.3 % errors identified) and reported to be feasible and acceptable in the short-term. Lack of time was identified as the main barrier to longer-term implementation, with funded hours required. 87 % of the 53 survey responders and all interviewees viewed a patient/family section to be positive and feasible.
We have shown healthcare professional involvement in Keto-Reg to be feasible in the short-term, and have identified what is necessary for the next stage: prospective longitudinal data entry from a larger number of international centres.
{"title":"Ketogenic diet registry for epilepsy: A cross-sectional feasibility study","authors":"Elizabeth G. Neal , Victoria J. Whiteley , Elles van der Louw , Anita M. Devlin , Christin Eltze , Suresh Pujar , Zoe Simpson , Isobel Hardy , Alison Palmer , Agnieszka Szmurlo , Alasdair PJ. Parker , Nicole Mills , Ruth Ord , Lieven Lagae , Kristel Vande Kerckhove , Sarita van den Berg , J Helen Cross , Natasha E. Schoeler","doi":"10.1016/j.ejpn.2024.10.011","DOIUrl":"10.1016/j.ejpn.2024.10.011","url":null,"abstract":"<div><div>We aimed to develop a registry (‘Keto-Reg’) for individuals with epilepsy referred for ketogenic dietary therapy (KDT) and to test feasibility of its implementation. The purpose of the registry is to provide a platform for collaborative research to answer specific research questions regarding long-term clinical and safety outcomes and to identify the most suitable candidates for KDT.</div><div>Registry data items were determined via an international Delphi survey of KDT healthcare professionals, and then entered into an electronic platform. Three UK and two other European KDT centres entered data for 10 ‘patients’ and reported on its acceptability and feasibility of use via questionnaire. 25 % of data was validated against medical records. A national survey was distributed and 19 parents and four young people were interviewed about a potential future patient/family section to the registry.</div><div>Healthcare professionals from six continents responded to the Delphi (n = 153 round 1, n = 79 round 2); 70 items reached the agreement threshold. Registry data entry was accurate (0.3 % errors identified) and reported to be feasible and acceptable in the short-term. Lack of time was identified as the main barrier to longer-term implementation, with funded hours required. 87 % of the 53 survey responders and all interviewees viewed a patient/family section to be positive and feasible.</div><div>We have shown healthcare professional involvement in Keto-Reg to be feasible in the short-term, and have identified what is necessary for the next stage: prospective longitudinal data entry from a larger number of international centres.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 131-137"},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142586345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-15DOI: 10.1016/j.ejpn.2024.10.008
Agnese Suppiej , Laura Tessari , Adriano Fasolo , Martina Casarotto , Carlotta Borghini , Dario Gregori , Elena Mercuriali
Aim
To measure the performance in activities of daily living and obtain reference charts in normal developing children.
Method
This is a cross-sectional survey study. We identified relevant items suitable to describe a wide range of daily life activities and set up a self-administered questionnaire. An initial set of items underwent a correlation analysis integrated with clinical judgment, to remove those items providing limited additional information. Factor analysis was used to identify latent variables, enabling the grouping of selected items into specific skill-related areas. For each latent variable, a model was developed to represent the progression of performance in activities of daily living as the child advanced in age.
Results
We collected data related to 3079 children, 1478 females and 1601 males, of median (IQR) 10.7 (7.2) years of age. The initial 268-item set was reduced to 154-item related to 14 domains and gathered into 30 latent variables.
Interpretation
The results describe the age-related performance in activities of daily living and produce reference values associated to an Italian population of normal children less than 18 years of age.
{"title":"The development of checklists and reference charts for activities of daily living of normal developing children","authors":"Agnese Suppiej , Laura Tessari , Adriano Fasolo , Martina Casarotto , Carlotta Borghini , Dario Gregori , Elena Mercuriali","doi":"10.1016/j.ejpn.2024.10.008","DOIUrl":"10.1016/j.ejpn.2024.10.008","url":null,"abstract":"<div><h3>Aim</h3><div>To measure the performance in activities of daily living and obtain reference charts in normal developing children.</div></div><div><h3>Method</h3><div>This is a cross-sectional survey study. We identified relevant items suitable to describe a wide range of daily life activities and set up a self-administered questionnaire. An initial set of items underwent a correlation analysis integrated with clinical judgment, to remove those items providing limited additional information. Factor analysis was used to identify latent variables, enabling the grouping of selected items into specific skill-related areas. For each latent variable, a model was developed to represent the progression of performance in activities of daily living as the child advanced in age.</div></div><div><h3>Results</h3><div>We collected data related to 3079 children, 1478 females and 1601 males, of median (IQR) 10.7 (7.2) years of age. The initial 268-item set was reduced to 154-item related to 14 domains and gathered into 30 latent variables.</div></div><div><h3>Interpretation</h3><div>The results describe the age-related performance in activities of daily living and produce reference values associated to an Italian population of normal children less than 18 years of age.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 88-94"},"PeriodicalIF":2.3,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142444709","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 : 2024-10-12DOI: 10.1016/j.ejpn.2024.10.007
Flávia Nardes , Alexandra Prufer de Queiroz Campos Araújo , Sofia Russi , Sarah Falcão Brasileiro Henriques
Duchenne muscular dystrophy is a progressive and fatal X-linked neuromuscular disease. Emergent disease-modifying therapy (DMT) in nonsense Duchenne muscular dystrophy (nmDMD) has brought new perspectives to slow down functional decline in this fatal disease. To investigate if there are differences in natural history between nmDMD and other genotypes, we described a retrospective cohort analysis of 25 nonsense mutation DMD (nmDMD) boys without disease-modifying therapy, aged between 1 and 22 years, over the last 15 years (2007–2022) in a single neuromuscular center in Rio de Janeiro and use published data on DMD natural history for comparison. Regarding prognostic factors, there were remarkable and statistically significant early loss of ambulation (at 9.1y ±2.1) and shortening of life expectancy (17.6y ±2.1) in our nmDMD group. Late acquisition of neurodevelopmental milestones and annual rates of decline in respiratory, cardiac, and timed motor function tests are the same between nmDMD patients with standard care and other DMD genotypes as described in the literature. Our data indicates the similarity of natural history and disease progression among DMD boys with nmDMD mutations compared to different mutations.
{"title":"Similar disease progression in nonsense Duchenne muscular dystrophy boys as general natural history: Single Brazilian center 15 years registry view","authors":"Flávia Nardes , Alexandra Prufer de Queiroz Campos Araújo , Sofia Russi , Sarah Falcão Brasileiro Henriques","doi":"10.1016/j.ejpn.2024.10.007","DOIUrl":"10.1016/j.ejpn.2024.10.007","url":null,"abstract":"<div><div>Duchenne muscular dystrophy is a progressive and fatal X-linked neuromuscular disease. Emergent disease-modifying therapy (DMT) in nonsense Duchenne muscular dystrophy (nmDMD) has brought new perspectives to slow down functional decline in this fatal disease. To investigate if there are differences in natural history between nmDMD and other genotypes, we described a retrospective cohort analysis of 25 nonsense mutation DMD (nmDMD) boys without disease-modifying therapy, aged between 1 and 22 years, over the last 15 years (2007–2022) in a single neuromuscular center in Rio de Janeiro and use published data on DMD natural history for comparison. Regarding prognostic factors, there were remarkable and statistically significant early loss of ambulation (at 9.1y ±2.1) and shortening of life expectancy (17.6y ±2.1) in our nmDMD group. Late acquisition of neurodevelopmental milestones and annual rates of decline in respiratory, cardiac, and timed motor function tests are the same between nmDMD patients with standard care and other DMD genotypes as described in the literature. Our data indicates the similarity of natural history and disease progression among DMD boys with nmDMD mutations compared to different mutations.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 117-122"},"PeriodicalIF":2.3,"publicationDate":"2024-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142512190","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 : 2024-10-11DOI: 10.1016/j.ejpn.2024.10.004
Jo M. Wilmshurst , Dara VF. Albert , Asif Doja , Jaime Carrizosa , Arushi Gahlot Saini , Juhi Gupta , Samson Gwer , Charles Hammond , Naoko Ishihara , Charuta Joshi , Edward Kija , Mubeen Fatima Rafay , Robert Sebunya , Esra Serdaroglu , Jorge Vidaurre , Jithanghi Wanigasinghe , Archana A. Patel
This report summarizes the key findings of a workshop undertaken at the International Child Neurology Congress in 2024 by child neurologists with expertise in training education and invested colleagues. The workshop aimed to explore global issues which have impact on access to child neurology training. The major findings supported a great need for more training programs globally, that consensus is needed for the minimum standards of training, and that training programs can be strengthened via global health partnerships especially with collaborations from regions with more available resources. The group concurred that the phenomena of ‘neurophobia’ amongst general paediatricians and medical trainees, was a reality, and creates barriers both working with paediatric colleagues, as well as recruiting specialists to the field. Optimal teaching practices for child neurology should include the expansion of learning through global partnerships and virtual educational resources. Measures must be put into place for fledgling training programs, to support colleagues in less resourced settings and to avoid their burn-out. Collegial and collaborative work is essential to support the future of child neurology across the globe, both to reach the current capacity needs but also to meet the necessary growth in the field.
{"title":"Report from the child neurology education and training workshop at the International Child Neurology Congress 2024: Expert's addressing the training gap","authors":"Jo M. Wilmshurst , Dara VF. Albert , Asif Doja , Jaime Carrizosa , Arushi Gahlot Saini , Juhi Gupta , Samson Gwer , Charles Hammond , Naoko Ishihara , Charuta Joshi , Edward Kija , Mubeen Fatima Rafay , Robert Sebunya , Esra Serdaroglu , Jorge Vidaurre , Jithanghi Wanigasinghe , Archana A. Patel","doi":"10.1016/j.ejpn.2024.10.004","DOIUrl":"10.1016/j.ejpn.2024.10.004","url":null,"abstract":"<div><div>This report summarizes the key findings of a workshop undertaken at the International Child Neurology Congress in 2024 by child neurologists with expertise in training education and invested colleagues. The workshop aimed to explore global issues which have impact on access to child neurology training. The major findings supported a great need for more training programs globally, that consensus is needed for the minimum standards of training, and that training programs can be strengthened via global health partnerships especially with collaborations from regions with more available resources. The group concurred that the phenomena of ‘neurophobia’ amongst general paediatricians and medical trainees, was a reality, and creates barriers both working with paediatric colleagues, as well as recruiting specialists to the field. Optimal teaching practices for child neurology should include the expansion of learning through global partnerships and virtual educational resources. Measures must be put into place for fledgling training programs, to support colleagues in less resourced settings and to avoid their burn-out. Collegial and collaborative work is essential to support the future of child neurology across the globe, both to reach the current capacity needs but also to meet the necessary growth in the field.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 104-108"},"PeriodicalIF":2.3,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142512189","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-10DOI: 10.1016/j.ejpn.2024.09.009
Merete Wik-Klokk , Magnhild Rasmussen , Kristin Ørstavik , Henrik Zetterberg , Milada Hagen , Marie Elizabeth Holtebekk , Anette Ramm-Pettersen , Sean Wallace
Background
New treatments for 5q spinal muscular atrophy (SMA) have led to changes in the disease phenotype. Questions about long-term efficacy, however, persist. We present the results from five-year follow-up of the first ten Norwegian patients with SMA type1 treated with nusinersen.
Methods
– Ten patients referred to the expanded access program were included. Standardized assessments with Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND), the Hammersmith Infant Neurological Examination (HINE-2), compound muscle action potential (CMAP) examination and cerebrospinal fluid analysis of neurofilament light chain (cNfL) were performed.
Result
Age at baseline ranged from three months to 11 years and eight months. Nine patients were alive and continued to receive treatment at 62 months of follow-up. CHOP INTEND scores increased significantly up to 38 months. Any further increase from 38 to 50 months was not statistically significant, and scores remained almost unchanged from 50 to 62 months. HINE-2 scores increased but the difference from baseline never reached statistical significance.
The youngest patients showed the best motor outcome. The changes in CMAP scores were not statistically significant. cNfL values were significantly reduced after 18 months compared with baseline; the largest difference occurred between baseline and 6 months. There was a significant negative correlation between log cNfL and CHOP INTEND (p = 0.042). Bulbar and respiratory function did not improve during the observation period.
Conclusion
Our findings support previously reported results on efficacy and safety of nusinersen. All patients have shown improvement in motor function. The need of respiratory and nutritional support did not improve.
{"title":"Type 1 spinal muscular atrophy treated with nusinersen in Norway, a five-year follow-up","authors":"Merete Wik-Klokk , Magnhild Rasmussen , Kristin Ørstavik , Henrik Zetterberg , Milada Hagen , Marie Elizabeth Holtebekk , Anette Ramm-Pettersen , Sean Wallace","doi":"10.1016/j.ejpn.2024.09.009","DOIUrl":"10.1016/j.ejpn.2024.09.009","url":null,"abstract":"<div><h3>Background</h3><div>New treatments for 5q spinal muscular atrophy (SMA) have led to changes in the disease phenotype. Questions about long-term efficacy, however, persist. We present the results from five-year follow-up of the first ten Norwegian patients with SMA type1 treated with nusinersen.</div></div><div><h3>Methods</h3><div>– Ten patients referred to the expanded access program were included<strong>.</strong> Standardized assessments with Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND), the Hammersmith Infant Neurological Examination (HINE-2), compound muscle action potential (CMAP) examination and cerebrospinal fluid analysis of neurofilament light chain (cNfL) were performed.</div></div><div><h3>Result</h3><div>Age at baseline ranged from three months to 11 years and eight months. Nine patients were alive and continued to receive treatment at 62 months of follow-up. CHOP INTEND scores increased significantly up to 38 months. Any further increase from 38 to 50 months was not statistically significant, and scores remained almost unchanged from 50 to 62 months. HINE-2 scores increased but the difference from baseline never reached statistical significance.</div><div>The youngest patients showed the best motor outcome. The changes in CMAP scores were not statistically significant. cNfL values were significantly reduced after 18 months compared with baseline; the largest difference occurred between baseline and 6 months<strong>.</strong> There was a significant negative correlation between log cNfL and CHOP INTEND (p = 0.042). Bulbar and respiratory function did not improve during the observation period.</div></div><div><h3>Conclusion</h3><div>Our findings support previously reported results on efficacy and safety of nusinersen. All patients have shown improvement in motor function. The need of respiratory and nutritional support did not improve.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 109-116"},"PeriodicalIF":2.3,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142512191","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-09DOI: 10.1016/j.ejpn.2024.10.006
Prateek Kumar Panda, Indar Kumar Sharawat
{"title":"Cost-effective diagnosis for children with developmental and epileptic encephalopathy phenotype","authors":"Prateek Kumar Panda, Indar Kumar Sharawat","doi":"10.1016/j.ejpn.2024.10.006","DOIUrl":"10.1016/j.ejpn.2024.10.006","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 61-62"},"PeriodicalIF":2.3,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142434063","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 : 2024-10-09DOI: 10.1016/j.ejpn.2024.10.001
Ana Jové-Blanco , José Antonio Ruiz Domínguez , Aranzazu Flavia González-Posada Flores , Luisa Barón González de Suso , María de Ceano-Vivas la Calle , Cristina Verdú Sánchez , Pilar Tirado Requero , Blanca Fuentes Gimeno , Cristina Utrilla Contreras , Lidia Oviedo-Melgares , Noemí Núñez Enamorado , Ana Martínez de Aragón , Débora Sanz Álvarez , Yolanda Ruiz Martín , Antonio Carmelo Gil Nuñez , Pedro de Castro de Castro , María Vázquez-López
Background
The development of unicentric pediatric acute stroke protocols has improved stroke diagnosis and treatment. The impact of the implementation of a multicentric Pediatric Stroke Code (PSC) remains unknown.
Aim
to describe the characteristics of the PSC activations and identify clinical features associated with stroke compared to stroke mimics in children in whom a multicentric PSC had been activated and compare them to reported monocentric PSC results.
Methods
Observational, retrospective, case and control multicentric study, performed in the Pediatric Emergency Department (PED) of the three Primary Pediatric Stroke Centers (PPSCs) in Madrid (Spain). Study population corresponded to children between 28 days and 16 years old in whom PSC was activated that consulted or were referred to any of the PPSC PED between March 2019 and June 2022. The main outcome was to compare the characteristics of patients with final diagnosis of stroke versus stroke mimics, among all patients for which PSC had been activated. Logistic regression modeling was used to investigate associations between independent variables and stroke diagnosis. Odds ratio (ORs) and 95 % confidence intervals (95%CIs) were estimated.
Results
PSC was activated in 196 patients. Stroke was confirmed in 39 patients (19.9 %): 20 (10.2 %) had an ischemic stroke and 19 (9.7 %) a hemorrhagic stroke. Stroke mimics represented 80.1 % of the PSC activations. Migraine was the most frequent stroke mimic (38.3 %). Time from symptom onset to brain imaging was 233.00 min (IQR 153.00–373.00) when patients self-presented at the PPSC compared to 231.00 min (IQR 129.00–400.00) when PSC was triggered at other settings (p0.580). Five patients (25.3 %) were eligible for hyperacute recanalization treatment. Low level of consciousness (OR4.373, 95%IC 0.247–0.652, p < 0.001), sensory disruption/motor disability of face/limbs (OR3.633, 95%IC 0.103–0.349, p < 0.001), aphasia (OR2.311, 95%IC 0.023–0.284, p0.022) and altered mental status (OR2.517, 95%IC 0.043–0.357, p0.013) were associated with an increased probability of stroke.
Conclusion
multicentric PSC achieved similar results to previously reported unicentric PSCs, showing the feasibility of such an organization.
{"title":"Multicentric Pediatric Stroke Code: Insight to the first years after implementation","authors":"Ana Jové-Blanco , José Antonio Ruiz Domínguez , Aranzazu Flavia González-Posada Flores , Luisa Barón González de Suso , María de Ceano-Vivas la Calle , Cristina Verdú Sánchez , Pilar Tirado Requero , Blanca Fuentes Gimeno , Cristina Utrilla Contreras , Lidia Oviedo-Melgares , Noemí Núñez Enamorado , Ana Martínez de Aragón , Débora Sanz Álvarez , Yolanda Ruiz Martín , Antonio Carmelo Gil Nuñez , Pedro de Castro de Castro , María Vázquez-López","doi":"10.1016/j.ejpn.2024.10.001","DOIUrl":"10.1016/j.ejpn.2024.10.001","url":null,"abstract":"<div><h3>Background</h3><div>The development of unicentric pediatric acute stroke protocols has improved stroke diagnosis and treatment. The impact of the implementation of a multicentric Pediatric Stroke Code (PSC) remains unknown.</div></div><div><h3>Aim</h3><div>to describe the characteristics of the PSC activations and identify clinical features associated with stroke compared to stroke mimics in children in whom a multicentric PSC had been activated and compare them to reported monocentric PSC results.</div></div><div><h3>Methods</h3><div>Observational, retrospective, case and control multicentric study, performed in the Pediatric Emergency Department (PED) of the three Primary Pediatric Stroke Centers (PPSCs) in Madrid (Spain). Study population corresponded to children between 28 days and 16 years old in whom PSC was activated that consulted or were referred to any of the PPSC PED between March 2019 and June 2022. The main outcome was to compare the characteristics of patients with final diagnosis of stroke versus stroke mimics, among all patients for which PSC had been activated. Logistic regression modeling was used to investigate associations between independent variables and stroke diagnosis. Odds ratio (ORs) and 95 % confidence intervals (95%CIs) were estimated.</div></div><div><h3>Results</h3><div>PSC was activated in 196 patients. Stroke was confirmed in 39 patients (19.9 %): 20 (10.2 %) had an ischemic stroke and 19 (9.7 %) a hemorrhagic stroke. Stroke mimics represented 80.1 % of the PSC activations. Migraine was the most frequent stroke mimic (38.3 %). Time from symptom onset to brain imaging was 233.00 min (IQR 153.00–373.00) when patients self-presented at the PPSC compared to 231.00 min (IQR 129.00–400.00) when PSC was triggered at other settings (p0.580). Five patients (25.3 %) were eligible for hyperacute recanalization treatment. Low level of consciousness (OR4.373, 95%IC 0.247–0.652, p < 0.001), sensory disruption/motor disability of face/limbs (OR3.633, 95%IC 0.103–0.349, p < 0.001), aphasia (OR2.311, 95%IC 0.023–0.284, p0.022) and altered mental status (OR2.517, 95%IC 0.043–0.357, p0.013) were associated with an increased probability of stroke.</div></div><div><h3>Conclusion</h3><div>multicentric PSC achieved similar results to previously reported unicentric PSCs, showing the feasibility of such an organization.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 95-103"},"PeriodicalIF":2.3,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142444710","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 : 2024-10-09DOI: 10.1016/j.ejpn.2024.10.005
Maria Eugenia Amato , Sol Balsells , Loreto Martorell , Adrián Alcalá San Martín , Karen Ansell , Malene Landbo Børresen , Heather Johnson , Christian Korff , Stephanie Garcia-Tarodo , Jeremie Lefranc , Anne-Sophie Denommé-Pichon , Elisabeth Sarrazin , Nora Zsuzsanna Szabo , Jorge M. Saraiva , Dorota Wicher , Anne Goverde , Karen G.C.B. Bindels-de Heus , Tahsin Stefan Barakat , Juan Darío Ortigoza-Escobar
Background and objectives
Developmental and epileptic encephalopathy 56 (DEE-56) is caused by pathogenic variants in YWHAG and is characterized by early-onset epilepsy and neurodevelopmental delay. This study reports on a cohort of DEE-56 individuals, correlating antiseizure medication usage and comorbidities, to aid in understanding disease evolution.
Methods
We analyzed data from thirty-nine individuals aged 3–40 years with YWHAG variants, including 12 previously unreported individuals (2 of these with recurrent distal 7q11.23 deletions) and 27 previously published cases (21 families, including 3 adult individuals reported in a family case). Our assessments encompassed clinical, radiological, and genetic evaluations. All procedures adhered to standardized protocols for patient approvals, registrations, and data collection.
Results
Individuals with YWHAG variants exhibited variable psychomotor delay, with the majority experiencing mild intellectual disability. Early-onset seizures, particularly febrile seizures, were common, with various seizure types reported. Valproic acid has emerged as an effective antiseizure medication. Movement disorders were present in a subset of individuals, primarily manifesting as ataxia and tremor. Comorbidities such as autism spectrum disorders and attention deficit-hyperreactivity disorder were observed in a proportion of individuals. We identified a novel YWHAG variant (c.634_645del/p.Asn212_Ser215del) and expanded the genotypic spectrum of the disease.
Conclusions
We provide insights into the clinical, radiological, and genetic features of YWHAG-related epileptic encephalopathy. Despite mild clinical symptoms, affected individuals face challenges in daily functioning, underscoring the need for comprehensive care. Valproic acid has been used for seizure control with variable results.
{"title":"Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature","authors":"Maria Eugenia Amato , Sol Balsells , Loreto Martorell , Adrián Alcalá San Martín , Karen Ansell , Malene Landbo Børresen , Heather Johnson , Christian Korff , Stephanie Garcia-Tarodo , Jeremie Lefranc , Anne-Sophie Denommé-Pichon , Elisabeth Sarrazin , Nora Zsuzsanna Szabo , Jorge M. Saraiva , Dorota Wicher , Anne Goverde , Karen G.C.B. Bindels-de Heus , Tahsin Stefan Barakat , Juan Darío Ortigoza-Escobar","doi":"10.1016/j.ejpn.2024.10.005","DOIUrl":"10.1016/j.ejpn.2024.10.005","url":null,"abstract":"<div><h3>Background and objectives</h3><div>Developmental and epileptic encephalopathy 56 (DEE-56) is caused by pathogenic variants in <em>YWHAG</em> and is characterized by early-onset epilepsy and neurodevelopmental delay. This study reports on a cohort of DEE-56 individuals, correlating antiseizure medication usage and comorbidities, to aid in understanding disease evolution.</div></div><div><h3>Methods</h3><div>We analyzed data from thirty-nine individuals aged 3–40 years with <em>YWHAG</em> variants, including 12 previously unreported individuals (2 of these with recurrent distal 7q11.23 deletions) and 27 previously published cases (21 families, including 3 adult individuals reported in a family case). Our assessments encompassed clinical, radiological, and genetic evaluations. All procedures adhered to standardized protocols for patient approvals, registrations, and data collection.</div></div><div><h3>Results</h3><div>Individuals with <em>YWHAG</em> variants exhibited variable psychomotor delay, with the majority experiencing mild intellectual disability. Early-onset seizures, particularly febrile seizures, were common, with various seizure types reported. Valproic acid has emerged as an effective antiseizure medication. Movement disorders were present in a subset of individuals, primarily manifesting as ataxia and tremor. Comorbidities such as autism spectrum disorders and attention deficit-hyperreactivity disorder were observed in a proportion of individuals. We identified a novel <em>YWHAG</em> variant (c.634_645del/p.Asn212_Ser215del) and expanded the genotypic spectrum of the disease.</div></div><div><h3>Conclusions</h3><div>We provide insights into the clinical, radiological, and genetic features of <em>YWHAG</em>-related epileptic encephalopathy. Despite mild clinical symptoms, affected individuals face challenges in daily functioning, underscoring the need for comprehensive care. Valproic acid has been used for seizure control with variable results.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 63-72"},"PeriodicalIF":2.3,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142437821","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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