Pub Date : 2025-05-07DOI: 10.1016/j.ejpn.2025.05.001
Caroline Rey , Laetitia Giorgi , Hélène Maurey , Anne-Lise Poulat , Daniel Amsallem , Anne Lepine , Stéphane Auvin , Renaldo Florence , Juliette Ropars , Emmanuel Cheuret , Sarah Baer , Jean-Marc Pinard , Anne Rolland , Pierre-Louis Leger , Sylvie Nguyen The Tich , Pierre Castelnau , Pierre Meyer , Sylvain Renolleau , Diana Rodriguez , Frederic Villega , Kumaran Deiva
Objective
To identify factors associated with the neurological outcome of HSVE in children.
Materials and methods
In this retrospective multicentric observational study, clinical, paraclinical data at onset and neurological outcomes at last follow-up of children (≥28 days and <18 years old) with HSVE, were studied. Univariate and multivariate analyses were performed to identify factors associated with neurological outcome.
Results
49 children (mean age of 4.9 ± 5.5 years) were included. At last follow-up of 5.9 ± 3,13 years, 2 children died (4 %) and 37 (76 %) children presented with poor neurological outcome with epilepsy (57 %), intellectual disability (51 %) and language disorders (47 %). Rehabilitation was necessary for 76 % and 59 % had abnormal academic performances. At onset, younger age and seizures were significantly associated to language disorders (p < 0.01), motor disabilities (p = 0.01), and intellectual disabilities (p = 0.01) in univariate analysis. Abnormal MRIs were more frequent in children with neurological sequalae (p = 0.01). Multivariate analyses identified that: (1) epilepsy occurred more frequently in females (p = 0.03), with insular lesions (p = 0.048); (2) language disorders were more common in children who had seizures at onset (p 0.02); (3) motor disorders were more frequent in younger children (p = 0.03) with thalamic lesions (p = 0.04).
Conclusion
Our findings indicate that despite decrease in mortality rates, neurological disabilities in children with HSVE still persist at high levels. This underscores the need to enhance HSVE management strategies. Moreover, the identified risk factors associated with poor neurological outcomes can aid in identifying high-risk children, facilitating the implementation of alternative treatment approaches such as immunotherapy or intensive rehabilitation.
{"title":"Neurological outcomes and disability predictors in paediatric herpes simplex virus encephalitis: a multicentre cohort from French tertiary hospitals","authors":"Caroline Rey , Laetitia Giorgi , Hélène Maurey , Anne-Lise Poulat , Daniel Amsallem , Anne Lepine , Stéphane Auvin , Renaldo Florence , Juliette Ropars , Emmanuel Cheuret , Sarah Baer , Jean-Marc Pinard , Anne Rolland , Pierre-Louis Leger , Sylvie Nguyen The Tich , Pierre Castelnau , Pierre Meyer , Sylvain Renolleau , Diana Rodriguez , Frederic Villega , Kumaran Deiva","doi":"10.1016/j.ejpn.2025.05.001","DOIUrl":"10.1016/j.ejpn.2025.05.001","url":null,"abstract":"<div><h3>Objective</h3><div>To identify factors associated with the neurological outcome of HSVE in children.</div></div><div><h3>Materials and methods</h3><div>In this retrospective multicentric observational study, clinical, paraclinical data at onset and neurological outcomes at last follow-up of children (≥28 days and <18 years old) with HSVE, were studied. Univariate and multivariate analyses were performed to identify factors associated with neurological outcome.</div></div><div><h3>Results</h3><div>49 children (mean age of 4.9 ± 5.5 years) were included. At last follow-up of 5.9 ± 3,13 years, 2 children died (4 %) and 37 (76 %) children presented with poor neurological outcome with epilepsy (57 %), intellectual disability (51 %) and language disorders (47 %). Rehabilitation was necessary for 76 % and 59 % had abnormal academic performances. At onset, younger age and seizures were significantly associated to language disorders (p < 0.01), motor disabilities (p = 0.01), and intellectual disabilities (p = 0.01) in univariate analysis. Abnormal MRIs were more frequent in children with neurological sequalae (p = 0.01). Multivariate analyses identified that: (1) epilepsy occurred more frequently in females (p = 0.03), with insular lesions (p = 0.048); (2) language disorders were more common in children who had seizures at onset (p 0.02); (3) motor disorders were more frequent in younger children (p = 0.03) with thalamic lesions (p = 0.04).</div></div><div><h3>Conclusion</h3><div>Our findings indicate that despite decrease in mortality rates, neurological disabilities in children with HSVE still persist at high levels. This underscores the need to enhance HSVE management strategies. Moreover, the identified risk factors associated with poor neurological outcomes can aid in identifying high-risk children, facilitating the implementation of alternative treatment approaches such as immunotherapy or intensive rehabilitation.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"57 ","pages":"Pages 7-14"},"PeriodicalIF":2.3,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144090521","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 : 2025-05-01DOI: 10.1016/j.ejpn.2025.05.002
Paola De Liso , Richard Webster , Barbara Plecko , Federico Vigevano
{"title":"Hepatocellular carcinoma in two unrelated patients with PNPO deficiency Epilepsy: A risk of long-term pyridoxal-5′-phosphate therapy?","authors":"Paola De Liso , Richard Webster , Barbara Plecko , Federico Vigevano","doi":"10.1016/j.ejpn.2025.05.002","DOIUrl":"10.1016/j.ejpn.2025.05.002","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 104-106"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143928276","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 : 2025-05-01DOI: 10.1016/j.ejpn.2025.04.004
Pablo Pretzel , Antonia Herrmann , Alice Kuhn , Anna-Lena Klauser , Julia Matilainen , Elias Kellner , Maren Hackenberg , Simone Mayer , Lucia Laugwitz , Markus Uhl , Samuel Groeschel , Wibke G. Janzarik
Introduction
Pontocerebellar hypoplasia type 2A (PCH2A) is a rare neurogenetic disease characterized by severe cognitive and motor impairment. This study reports on brain morphometry and psychomotor development of affected children.
Materials and methods
We analyzed 78 cerebral MRI datasets of 57 patients with genetically confirmed PCH2A. Volumetric and in-plane measurements were conducted in cerebellum, neocortex and pons. Supratentorial width and width of the anterior horns of the lateral ventricles was used to calculate the Evans index. Caregivers of 65 patients (aged 7 months to 33 years) filled in a survey assessing motor and cognitive development. Developmental status was compared to MRI measurements.
Results
In children with PCH2A, cerebellar volume was markedly smaller than in healthy children at birth, with slower increase and stagnation at around 12 months. No cerebellar growth was observed in the cranio-caudal axis. Longitudinal data did not reveal a decrease in cerebellar volume or in-plane measurements. Supratentorial measurements showed progressive microcephaly and a continuous increase of the Evans index, reflecting progressive cerebral atrophy. Patients demonstrated severe cognitive and motor impairments, with developmental regression reported in only a minority. No statistical relationship between brain measurements and cognitive or motor development was observed.
Conclusion
MRI in PCH2A patients shows limited cerebellar growth during infancy, especially restricted along the cranio-caudal axis. After infancy, cerebellar volume remains relatively stable. Supratentorial measurements indicate slowly progressive atrophy. Psychomotor development is significantly impaired, but regression is rare.
{"title":"Brain morphometry and psychomotor development in children with PCH2A","authors":"Pablo Pretzel , Antonia Herrmann , Alice Kuhn , Anna-Lena Klauser , Julia Matilainen , Elias Kellner , Maren Hackenberg , Simone Mayer , Lucia Laugwitz , Markus Uhl , Samuel Groeschel , Wibke G. Janzarik","doi":"10.1016/j.ejpn.2025.04.004","DOIUrl":"10.1016/j.ejpn.2025.04.004","url":null,"abstract":"<div><h3>Introduction</h3><div>Pontocerebellar hypoplasia type 2A (PCH2A) is a rare neurogenetic disease characterized by severe cognitive and motor impairment. This study reports on brain morphometry and psychomotor development of affected children.</div></div><div><h3>Materials and methods</h3><div>We analyzed 78 cerebral MRI datasets of 57 patients with genetically confirmed PCH2A. Volumetric and in-plane measurements were conducted in cerebellum, neocortex and pons. Supratentorial width and width of the anterior horns of the lateral ventricles was used to calculate the Evans index. Caregivers of 65 patients (aged 7 months to 33 years) filled in a survey assessing motor and cognitive development. Developmental status was compared to MRI measurements.</div></div><div><h3>Results</h3><div>In children with PCH2A, cerebellar volume was markedly smaller than in healthy children at birth, with slower increase and stagnation at around 12 months. No cerebellar growth was observed in the cranio-caudal axis. Longitudinal data did not reveal a decrease in cerebellar volume or in-plane measurements. Supratentorial measurements showed progressive microcephaly and a continuous increase of the Evans index, reflecting progressive cerebral atrophy. Patients demonstrated severe cognitive and motor impairments, with developmental regression reported in only a minority. No statistical relationship between brain measurements and cognitive or motor development was observed.</div></div><div><h3>Conclusion</h3><div>MRI in PCH2A patients shows limited cerebellar growth during infancy, especially restricted along the cranio-caudal axis. After infancy, cerebellar volume remains relatively stable. Supratentorial measurements indicate slowly progressive atrophy. Psychomotor development is significantly impaired, but regression is rare.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 58-66"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143888260","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 : 2025-05-01DOI: 10.1016/j.ejpn.2025.04.012
Stephanie C. Schüssler , Anna Paul , Undine Niederreiter , Ludger Deiters , Fabian B. Fahlbusch , Patrick Morhart , Regina Trollmann
Aim
Germinal-matrix-intraventricular hemorrhage (GM-IVH) is a leading cause of seizures in preterm infants. This study aimed to analyze risk factors associated with seizures and to evaluate neurodevelopmental outcomes in preterm infants with GM-IVH and seizures.
Methods
We conducted a retrospective study from 2011 to 2019, identifying preterm infants with GM-IVH grades 2–4 through an electronic patient file system. Seizures were diagnosed based on clinical manifestations and abnormal EEG findings. Infants were grouped by the presence or absence of seizures, and associated comorbidities were compared. Neurodevelopmental follow-up was assessed at two years of age using the Mental Bayley Scales of Infant Development II (BSID-II). Outcomes of infants with seizures were compared to all tested preterm infants with birth weight <1500 g born between 2011 and 2019 (n = 195).
Results
A total of 34 preterm infants with GM-IVH grades 2–4 were included. Seizures occurred in 52.9 % of cases. Their occurrence was significantly associated with lower gestational age (mean 28.1 vs. 30 weeks, p = 0.04) and pneumonia (p = 0.003). Infants with seizures had significantly lower BSID-II Mental scores (n = 15) compared to those without seizures (86.3 ± 18.3 vs. 104.9 ± 8.5, p = 0.03). However, as these infants had a lower gestational age, we could not distinguish if they had a poorer outcome because of seizures or because of immaturity.
Conclusion
Seizures in preterm infants with GM-IVH were significantly associated with lower gestational age and pneumonia. Infections and inflammation may contribute to seizure development. Larger studies with continuous EEG monitoring are needed to validate these findings.
{"title":"Seizures in preterm infants with germinal-matrix-intraventricular hemorrhage (GM-IVH): a retrospective monocentric study on predictors and neurodevelopmental outcome","authors":"Stephanie C. Schüssler , Anna Paul , Undine Niederreiter , Ludger Deiters , Fabian B. Fahlbusch , Patrick Morhart , Regina Trollmann","doi":"10.1016/j.ejpn.2025.04.012","DOIUrl":"10.1016/j.ejpn.2025.04.012","url":null,"abstract":"<div><h3>Aim</h3><div>Germinal-matrix-intraventricular hemorrhage (GM-IVH) is a leading cause of seizures in preterm infants. This study aimed to analyze risk factors associated with seizures and to evaluate neurodevelopmental outcomes in preterm infants with GM-IVH and seizures.</div></div><div><h3>Methods</h3><div>We conducted a retrospective study from 2011 to 2019, identifying preterm infants with GM-IVH grades 2–4 through an electronic patient file system. Seizures were diagnosed based on clinical manifestations and abnormal EEG findings. Infants were grouped by the presence or absence of seizures, and associated comorbidities were compared. Neurodevelopmental follow-up was assessed at two years of age using the Mental Bayley Scales of Infant Development II (BSID-II). Outcomes of infants with seizures were compared to all tested preterm infants with birth weight <1500 g born between 2011 and 2019 (n = 195).</div></div><div><h3>Results</h3><div>A total of 34 preterm infants with GM-IVH grades 2–4 were included. Seizures occurred in 52.9 % of cases. Their occurrence was significantly associated with lower gestational age (mean 28.1 vs. 30 weeks, p = 0.04) and pneumonia (p = 0.003). Infants with seizures had significantly lower BSID-II Mental scores (n = 15) compared to those without seizures (86.3 ± 18.3 vs. 104.9 ± 8.5, p = 0.03). However, as these infants had a lower gestational age, we could not distinguish if they had a poorer outcome because of seizures or because of immaturity.</div></div><div><h3>Conclusion</h3><div>Seizures in preterm infants with GM-IVH were significantly associated with lower gestational age and pneumonia. Infections and inflammation may contribute to seizure development. Larger studies with continuous EEG monitoring are needed to validate these findings.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 51-57"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143887991","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 : 2025-05-01DOI: 10.1016/j.ejpn.2025.04.015
Pinar Ozbudak, Elif Perihan Oncel, Canan Ustun, Deniz Menderes, Deniz Yuksel
Objective
This study aimed to analyze the demographic, clinical, and therapeutic profiles of pediatric patients diagnosed with tremor at a tertiary neurology outpatient clinic and to identify the most frequently employed therapeutic modalities.
Methods
A retrospective analysis was conducted between November 1, 2022, and April 1, 2024. Patients were categorized into etiological groups, including essential tremor, metabolic causes (e.g., vitamin deficiencies and thyroid dysfunction), functional tremor, and other etiologies. Patients diagnosed with essential tremor were further divided based on whether they were prescribed anti-tremor medications, and the groups were compared regarding daily functional abilities.
Results
A total of 192 patients were included, of whom 81 (42.1 %) were male. The mean age was 170 months, and the mean tremor duration was 19 months. Essential tremor accounted for 125 cases (65.1 %), while 38 patients (19.7 %) had a metabolic etiology. First-line anti-tremor medication (propranolol) was administered to 58 out of 125 patients (46.4 %), and four patients required second-line therapy (primidone). Between the medicated and non-medicated groups no significant gender differences or difficulty in bringing food to the mouth accurately were observed. However, significant statistical differences were noted in difficulties with drinking water, using a spoon, and handwriting impairments.
Conclusion
Childhood tremor is a common clinical condition with diverse etiologies, where treatable causes, especially vitamin deficiencies, play a significant role. Functional impairments, such as difficulty in drinking water, using a spoon, and writing, may serve as key predictors for initiating first-line anti-tremor therapy. Propranolol remains an effective therapeutic option for essential tremor in children.
{"title":"Approach to childhood tremors: Insights from a pediatric neurologist","authors":"Pinar Ozbudak, Elif Perihan Oncel, Canan Ustun, Deniz Menderes, Deniz Yuksel","doi":"10.1016/j.ejpn.2025.04.015","DOIUrl":"10.1016/j.ejpn.2025.04.015","url":null,"abstract":"<div><h3>Objective</h3><div>This study aimed to analyze the demographic, clinical, and therapeutic profiles of pediatric patients diagnosed with tremor at a tertiary neurology outpatient clinic and to identify the most frequently employed therapeutic modalities.</div></div><div><h3>Methods</h3><div>A retrospective analysis was conducted between November 1, 2022, and April 1, 2024. Patients were categorized into etiological groups, including essential tremor, metabolic causes (e.g., vitamin deficiencies and thyroid dysfunction), functional tremor, and other etiologies. Patients diagnosed with essential tremor were further divided based on whether they were prescribed anti-tremor medications, and the groups were compared regarding daily functional abilities.</div></div><div><h3>Results</h3><div>A total of 192 patients were included, of whom 81 (42.1 %) were male. The mean age was 170 months, and the mean tremor duration was 19 months. Essential tremor accounted for 125 cases (65.1 %), while 38 patients (19.7 %) had a metabolic etiology. First-line anti-tremor medication (propranolol) was administered to 58 out of 125 patients (46.4 %), and four patients required second-line therapy (primidone). Between the medicated and non-medicated groups no significant gender differences or difficulty in bringing food to the mouth accurately were observed. However, significant statistical differences were noted in difficulties with drinking water, using a spoon, and handwriting impairments.</div></div><div><h3>Conclusion</h3><div>Childhood tremor is a common clinical condition with diverse etiologies, where treatable causes, especially vitamin deficiencies, play a significant role. Functional impairments, such as difficulty in drinking water, using a spoon, and writing, may serve as key predictors for initiating first-line anti-tremor therapy. Propranolol remains an effective therapeutic option for essential tremor in children.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 74-79"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143903644","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 : 2025-05-01DOI: 10.1016/j.ejpn.2025.04.010
Deborah A. Sival, Suus A.M van Noort
{"title":"Editorial: Unraveling the complexities of DEE and movement disorders in young children","authors":"Deborah A. Sival, Suus A.M van Noort","doi":"10.1016/j.ejpn.2025.04.010","DOIUrl":"10.1016/j.ejpn.2025.04.010","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Page A2"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144013450","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 : 2025-05-01DOI: 10.1016/j.ejpn.2025.04.008
Hyungjin Chin , Soo Yeon Kim , Byung Chan Lim , Jong Hee Chae , Ki Joong Kim , Jae So Cho , Anna Cho , Hunmin Kim , Woo Joong Kim
Background
New-onset super-refractory status epilepticus (NOSRSE) leads to functional deficits and residual epilepsy. This study aimed to describe pediatric NOSRSE cohort to gain clinical insights of their features.
Methods
A retrospective review of children with NOSRSE in 2013–2024 was conducted at two tertiary hospitals. Patient clinical data, including MRI, CSF profile, EEG, and treatments, were collected and reviewed. The primary outcome measure was the modified Rankin scale score (mRS) at 3-month post-seizure.
Results
Twenty-three patients with NOSRSE, with a median age of 7.9 years, were included. Twenty-one (91 %) had febrile infection-related epilepsy syndrome (FIRES). The initial cerebrospinal fluid (CSF) profile was normal in five (23 %), pleocytosis was present in nine (39 %), and CSF protein was elevated in 15 (68 %) patients. Initial Brain MRI was normal in 14 (61 %) patients. First- and second-line immunotherapy was delivered to 21 (91 %) and 15 (68 %) patients, respectively. The etiology was viral infection in two (9 %) patients, and presumed cryptogenic in the remaining. The primary outcome was poor (mRS ≥4) in 14 (61 %) patients and all had residual epilepsy. Elevated initial CSF protein levels were associated with poor outcomes. Mental status before treatment, time to immunotherapy, intubation of >2 weeks or tracheostomy, and the duration of anesthetics were also associated with the primary outcome.
Conclusion
Most pediatric NOSRSE patients presented as cryptogenic FIRES, with poor long-term outcomes. None of the patients with NOSRSE tested positive for autoimmune antibodies. Many showed permanent MRI changes but did not correlate with outcome. The initial CSF profile may serve as an objective disease severity marker in NOSRSE.
{"title":"Pediatric new-onset super-refractory status epilepticus (NOSRSE): a case-series","authors":"Hyungjin Chin , Soo Yeon Kim , Byung Chan Lim , Jong Hee Chae , Ki Joong Kim , Jae So Cho , Anna Cho , Hunmin Kim , Woo Joong Kim","doi":"10.1016/j.ejpn.2025.04.008","DOIUrl":"10.1016/j.ejpn.2025.04.008","url":null,"abstract":"<div><h3>Background</h3><div>New-onset super-refractory status epilepticus (NOSRSE) leads to functional deficits and residual epilepsy. This study aimed to describe pediatric NOSRSE cohort to gain clinical insights of their features.</div></div><div><h3>Methods</h3><div>A retrospective review of children with NOSRSE in 2013–2024 was conducted at two tertiary hospitals. Patient clinical data, including MRI, CSF profile, EEG, and treatments, were collected and reviewed. The primary outcome measure was the modified Rankin scale score (mRS) at 3-month post-seizure.</div></div><div><h3>Results</h3><div>Twenty-three patients with NOSRSE, with a median age of 7.9 years, were included. Twenty-one (91 %) had febrile infection-related epilepsy syndrome (FIRES). The initial cerebrospinal fluid (CSF) profile was normal in five (23 %), pleocytosis was present in nine (39 %), and CSF protein was elevated in 15 (68 %) patients. Initial Brain MRI was normal in 14 (61 %) patients. First- and second-line immunotherapy was delivered to 21 (91 %) and 15 (68 %) patients, respectively. The etiology was viral infection in two (9 %) patients, and presumed cryptogenic in the remaining. The primary outcome was poor (mRS ≥4) in 14 (61 %) patients and all had residual epilepsy. Elevated initial CSF protein levels were associated with poor outcomes. Mental status before treatment, time to immunotherapy, intubation of >2 weeks or tracheostomy, and the duration of anesthetics were also associated with the primary outcome.</div></div><div><h3>Conclusion</h3><div>Most pediatric NOSRSE patients presented as cryptogenic FIRES, with poor long-term outcomes. None of the patients with NOSRSE tested positive for autoimmune antibodies. Many showed permanent MRI changes but did not correlate with outcome. The initial CSF profile may serve as an objective disease severity marker in NOSRSE.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 67-73"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143899154","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 : 2025-05-01DOI: 10.1016/j.ejpn.2025.05.005
J. Idowu , C. Meades , J.H. Cross , A. Muggeridge , M. Lakhanpaul , K. Robinson , L.B. Sherar , N. Pearson , C. Reilly
Rationale
There is limited data comparing quality of life (QOL) in young adolescents with epilepsy with young adolescents without epilepsy. This study aimed to compare self and caregiver rated child quality of life in young adolescents with epilepsy and a matched control group without epilepsy, and to explore factors associated with quality of life in young adolescents with epilepsy.
Method
Young adolescents with epilepsy (aged between 11 and 15 years) (n = 60; 25/35 boys/girls), a group of matched controls (n = 49 25/24; boys/girls), and their primary caregivers completed a measure of the child's quality of life (Pediatric Quality of Life Inventory; PedsQL). Comparisons between the epilepsy and control group were undertaken using chi-square analysis and independent t-tests. Linear regression was used to explore factors associated with quality of life in the adolescents with epilepsy. An alpha level of p < 0.05 was used.
Results
Adolescents with epilepsy had significantly lower scores on all QoL domains, summary scores and total score of the self-rated PedsQL (all p < 0.001 with exception of physical functioning (p = 0.003)). Adolescents with epilepsy also had significantly lower caregiver rated total QOL with lower scores on all of the PedsQL domains, summary scores, and on the total score (all p < 0.001). Increased adolescent mental health difficulties, increased adolescent motor coordination difficulties, and having had seizures in the week prior to the assessment were associated with reduced quality of life scores on both adolescents and caregiver rated quality of life in the adolescents with epilepsy.
Conclusion
Young adolescents with epilepsy have lower QOL on both self- and caregiver report compared to peers without epilepsy. The association with mental health and motor coordination difficulties highlights the need for identification and management of these co-occurring conditions. It is important that resources for identification and management of these difficulties are available in epilepsy clinics to optimise QoL for these adolescents.
{"title":"Quality of life in young adolescents with epilepsy: A case control study","authors":"J. Idowu , C. Meades , J.H. Cross , A. Muggeridge , M. Lakhanpaul , K. Robinson , L.B. Sherar , N. Pearson , C. Reilly","doi":"10.1016/j.ejpn.2025.05.005","DOIUrl":"10.1016/j.ejpn.2025.05.005","url":null,"abstract":"<div><h3>Rationale</h3><div>There is limited data comparing quality of life (QOL) in young adolescents with epilepsy with young adolescents without epilepsy. This study aimed to compare self and caregiver rated child quality of life in young adolescents with epilepsy and a matched control group without epilepsy, and to explore factors associated with quality of life in young adolescents with epilepsy.</div></div><div><h3>Method</h3><div>Young adolescents with epilepsy (aged between 11 and 15 years) (n = 60; 25/35 boys/girls), a group of matched controls (n = 49 25/24; boys/girls), and their primary caregivers completed a measure of the child's quality of life (Pediatric Quality of Life Inventory; PedsQL). Comparisons between the epilepsy and control group were undertaken using chi-square analysis and independent t-tests. Linear regression was used to explore factors associated with quality of life in the adolescents with epilepsy. An alpha level of p < 0.05 was used.</div></div><div><h3>Results</h3><div>Adolescents with epilepsy had significantly lower scores on all QoL domains, summary scores and total score of the self-rated PedsQL (all p < 0.001 with exception of physical functioning (p = 0.003)). Adolescents with epilepsy also had significantly lower caregiver rated total QOL with lower scores on all of the PedsQL domains, summary scores, and on the total score (all p < 0.001). Increased adolescent mental health difficulties, increased adolescent motor coordination difficulties, and having had seizures in the week prior to the assessment were associated with reduced quality of life scores on both adolescents and caregiver rated quality of life in the adolescents with epilepsy.</div></div><div><h3>Conclusion</h3><div>Young adolescents with epilepsy have lower QOL on both self- and caregiver report compared to peers without epilepsy. The association with mental health and motor coordination difficulties highlights the need for identification and management of these co-occurring conditions. It is important that resources for identification and management of these difficulties are available in epilepsy clinics to optimise QoL for these adolescents.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 115-120"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143941399","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 : 2025-05-01DOI: 10.1016/j.ejpn.2025.04.014
R. van Heurck , E.B. Hammar , D. Ville , S. Lebon , N. Chatron , C. Marconi , B. Royer-Bertrand , G. Lesca , A. Superti-Furga , M. Abramowicz , C. Korff
We studied a retrospective cohort of children with developmental and epileptic encephalopathy (DEE), a group of neurological conditions characterized by early onset epilepsy and severe developmental delay. Cases were recruited from three university hospitals based on clinical criteria, after a blinded cross-validation process, and most were subject to both array-CGH and exome-based gene panel analyses. 155 subjects were included. A genetic diagnosis was identified in 105 (68 %). A majority of patients (71 %) had onset of symptoms before the age of one year. In this age group a disease-causing variant was identified in 73 % of children, the highest proportion of cases reported so far. Genetic heterogeneity was high, involving 40 different genes. The most prevalent gene was SCN1A. Eight genes were identified in multiple patients and accounted for 50 % of all diagnoses. The remaining genes represented ultra-rare disorders. In many cases, molecular diagnosis leads to treatment adaptation and allows for genetic counseling. Those results highlight the growing importance of genetic investigations especially in children with symptoms onset before the age of 1. Finally, we evaluated the disease-causing variants in an intention-to-treat approach and found that almost half would theoretically be amenable to personalized therapy using antisense oligonucleotides (ASOs).
{"title":"Comprehensive genetic diagnosis and therapeutic perspectives in 155 children with developmental and epileptic encephalopathy","authors":"R. van Heurck , E.B. Hammar , D. Ville , S. Lebon , N. Chatron , C. Marconi , B. Royer-Bertrand , G. Lesca , A. Superti-Furga , M. Abramowicz , C. Korff","doi":"10.1016/j.ejpn.2025.04.014","DOIUrl":"10.1016/j.ejpn.2025.04.014","url":null,"abstract":"<div><div>We studied a retrospective cohort of children with developmental and epileptic encephalopathy (DEE), a group of neurological conditions characterized by early onset epilepsy and severe developmental delay. Cases were recruited from three university hospitals based on clinical criteria, after a blinded cross-validation process, and most were subject to both array-CGH and exome-based gene panel analyses. 155 subjects were included. A genetic diagnosis was identified in 105 (68 %). A majority of patients (71 %) had onset of symptoms before the age of one year. In this age group a disease-causing variant was identified in 73 % of children, the highest proportion of cases reported so far. Genetic heterogeneity was high, involving 40 different genes. The most prevalent gene was <em>SCN1A</em>. Eight genes were identified in multiple patients and accounted for 50 % of all diagnoses. The remaining genes represented ultra-rare disorders. In many cases, molecular diagnosis leads to treatment adaptation and allows for genetic counseling. Those results highlight the growing importance of genetic investigations especially in children with symptoms onset before the age of 1. Finally, we evaluated the disease-causing variants in an intention-to-treat approach and found that almost half would theoretically be amenable to personalized therapy using antisense oligonucleotides (ASOs).</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 97-103"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143923385","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}