European Journal of Paediatric Neurology最新文献

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Delayed diagnosis in pediatric-onset aquaporin-4 positive neuromyelitis optica spectrum disorder with isolated area postrema syndrome
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-04-11 DOI: 10.1016/j.ejpn.2025.04.005
Quinton Mandle , Linda Nguyen , Paul S. Horn , Yolanda S. Wheeler , Helen Wu , Kelsey E. Poisson
{"title":"Delayed diagnosis in pediatric-onset aquaporin-4 positive neuromyelitis optica spectrum disorder with isolated area postrema syndrome","authors":"Quinton Mandle , Linda Nguyen , Paul S. Horn , Yolanda S. Wheeler , Helen Wu , Kelsey E. Poisson","doi":"10.1016/j.ejpn.2025.04.005","DOIUrl":"10.1016/j.ejpn.2025.04.005","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 6-9"},"PeriodicalIF":2.3,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143824501","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}
引用次数: 0
Reduced elbow muscle strength in children and adolescents with Charcot-Marie-Tooth disease: a case control study 患有 Charcot-Marie-Tooth 疾病的儿童和青少年肘部肌肉力量减弱:病例对照研究
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-04-02 DOI: 10.1016/j.ejpn.2025.03.014
Camila Scarpino Barboza Franco , Noemi Biziaki Ansanello , Karoliny Lisandra Teixeira Cruz , Emanuela Juvenal Martins , Tenysson Will de Lemos , Cyntia Rogean de Jesus Alves , Ana Claudia Mattiello-Sverzut
{"title":"Reduced elbow muscle strength in children and adolescents with Charcot-Marie-Tooth disease: a case control study","authors":"Camila Scarpino Barboza Franco ,&nbsp;Noemi Biziaki Ansanello ,&nbsp;Karoliny Lisandra Teixeira Cruz ,&nbsp;Emanuela Juvenal Martins ,&nbsp;Tenysson Will de Lemos ,&nbsp;Cyntia Rogean de Jesus Alves ,&nbsp;Ana Claudia Mattiello-Sverzut","doi":"10.1016/j.ejpn.2025.03.014","DOIUrl":"10.1016/j.ejpn.2025.03.014","url":null,"abstract":"<div><h3>Background</h3><div>Charcot-Marie-Tooth disease type 1 (CMT1) is a prevalent inherited neuropathy characterized by progressive sensory and motor deficits affecting the peripheral nervous system. Although muscle weakness is commonly seen in the hands, weakness of more proximal muscles has been observed in adults. In childhood, the muscle strength of the upper limbs must be explored to understand the natural history of the disease.</div></div><div><h3>Objective</h3><div>This study assessed differences in the muscle strength of elbow flexors and extensors between typically developing children and adolescents (as controls) and those with CMT1 using isometric and isokinetic contractions.</div></div><div><h3>Method</h3><div>Eighteen children and adolescents with CMT1 participated and were matched with 36 controls in this case control study (1:2). The peak torque of elbow flexors (EFL) and extensors (EEX) was assessed using an isokinetic dynamometer through isometric and isokinetic contractions at a speed of 120°.s-<sup>1</sup>. Descriptive, t-tests and ANOVA were used for the statistical analysis.</div></div><div><h3>Results</h3><div>The CMT group exhibited significantly lower peak torque values across all assessed muscles and contraction types compared to the control group (p ≤ 0.05). Additionally, the isokinetic peak torque comparing the values of the elbow flexors with elbow extensors showed a significant difference to the control group (p ≤ 0.05). The intra-group analysis considering types of contractions showed no statistical difference.</div></div><div><h3>Conclusion</h3><div>Children with CMT1 presented proximal weakness in the muscles of the upper limbs, not only in the distal hand muscles. Health professionals should pay attention to the assessment and rehabilitation procedures with the aim of contributing to quality of life in the subsequent stages of life.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 1-5"},"PeriodicalIF":2.3,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143800240","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}
引用次数: 0
Neurodevelopmental outcomes at age 5 years among children born very preterm and surviving after persistent pulmonary hypertension of the newborn: EPIPAGE-2 cohort study
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-03-01 DOI: 10.1016/j.ejpn.2025.03.007
Sophie Breinig , Virginie Ehlinger , Jean-Christophe Rozé , Laurent Storme , Xavier Durrmeyer , Gilles Cambonie , Lionel Berthomieu , Valérie Benhammou , Geraldine Gascoin , Pierre-Yves Ancel , Catherine Arnaud
{"title":"Neurodevelopmental outcomes at age 5 years among children born very preterm and surviving after persistent pulmonary hypertension of the newborn: EPIPAGE-2 cohort study","authors":"Sophie Breinig ,&nbsp;Virginie Ehlinger ,&nbsp;Jean-Christophe Rozé ,&nbsp;Laurent Storme ,&nbsp;Xavier Durrmeyer ,&nbsp;Gilles Cambonie ,&nbsp;Lionel Berthomieu ,&nbsp;Valérie Benhammou ,&nbsp;Geraldine Gascoin ,&nbsp;Pierre-Yves Ancel ,&nbsp;Catherine Arnaud","doi":"10.1016/j.ejpn.2025.03.007","DOIUrl":"10.1016/j.ejpn.2025.03.007","url":null,"abstract":"<div><h3>Objective</h3><div>To determine whether pulmonary hypertension (PH) is associated with higher risk of adverse neurodevelopmental outcome at age 5 in a population-based cohort of 22–31<sup>+6</sup> preterm children.</div></div><div><h3>Study design</h3><div>In the EPIPAGE-2 French prospective population-based cohort of preterm children born in 2011, the neurodevelopmental outcome of children with PH was collected at 5 years. The primary outcome was a composite measure with four levels of neurodevelopmental disabilities: severe, moderate, mild, no disability, based on cerebral palsy, visual, hearing or cognitive deficiencies, behavioral difficulties and developmental coordination disorders. Secondary outcomes were autism spectrum disorders and school attendance. Missing data were multiply imputed. Developmental measures were compared using generalized estimating equations models.</div></div><div><h3>Results</h3><div>Of the 3007 eligible children, 1825 were analyzed, of whom 79 (4.3 %) were PH+. At age 5, 36.9 % (95 % CI, 26.0–47.8) of PH + children had moderate to severe overall neurodevelopmental disabilities compared with 17.9 % (95 % CI, 16.1–19.8) of PH<strong>–</strong>children, P &lt; 0.001. Significant differences at 5 years between the PH+ and PH<strong>–</strong> groups were observed for cerebral palsy (CP) (6 % versus 2.3 % for severe CP, P = 0.003), cognitive deficiency (31.7 % versus 15.0 %, P &lt; 0.001) and developmental coordination disorders (27.1 % versus 11.7 %, P &lt; 0.001). There were no significant differences in behavioral difficulties and autism spectrum disorders. Normal school was attended by 69.2 % of PH + children versus 88.3 % of PH<strong>–</strong> children.</div></div><div><h3>Conclusion</h3><div>In this nationwide population-based cohort of extremely preterm and very preterm infants, moderate to severe overall neurodevelopmental disability at age 5 was significantly associated with neonatal PH.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Pages 103-110"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143783061","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}
引用次数: 0
Epidemiology of childhood neuromuscular diseases in two hospital districts in Finland 芬兰两家医院辖区内儿童神经肌肉疾病的流行情况
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-03-01 DOI: 10.1016/j.ejpn.2025.03.012
M. Muuronen , H. Sätilä , P. Nokelainen , H. Huhtala , D. Caminiti , K. Eriksson , J. Palmio
{"title":"Epidemiology of childhood neuromuscular diseases in two hospital districts in Finland","authors":"M. Muuronen ,&nbsp;H. Sätilä ,&nbsp;P. Nokelainen ,&nbsp;H. Huhtala ,&nbsp;D. Caminiti ,&nbsp;K. Eriksson ,&nbsp;J. Palmio","doi":"10.1016/j.ejpn.2025.03.012","DOIUrl":"10.1016/j.ejpn.2025.03.012","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Pages 97-102"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143735122","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}
引用次数: 0
Tumefactive demyelinating lesions in children
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-03-01 DOI: 10.1016/j.ejpn.2025.03.005
Ayberk Selek , Rahsan Göcmen , Ceren Günbey , Bahadır Konuşkan , Ibrahim Oncel , Banu Anlar
{"title":"Tumefactive demyelinating lesions in children","authors":"Ayberk Selek ,&nbsp;Rahsan Göcmen ,&nbsp;Ceren Günbey ,&nbsp;Bahadır Konuşkan ,&nbsp;Ibrahim Oncel ,&nbsp;Banu Anlar","doi":"10.1016/j.ejpn.2025.03.005","DOIUrl":"10.1016/j.ejpn.2025.03.005","url":null,"abstract":"<div><div>Tumefactive lesions (TDL) are larger than 2 cm in diameter on T2-weighted brain MRI. They are distinguished from other types of demyelinating lesions by their size and degree of perilesional edema and/or rim enhancement, which can make diagnosis challenging.</div></div><div><h3>Aim</h3><div>To study the clinical and radiological features, follow-up and final diagnosis of patients presenting with TDL.</div></div><div><h3>Method</h3><div>Medical records of children seen at the Pediatric neurology and radiology department between 1992 and 2017 were reviewed. 15 patients younger than 18 years of age who had at least one TDL on their first magnetic resonance imaging (MRI) were included. Clinical and radiological features and evolution of imaging findings were studied.</div></div><div><h3>Results</h3><div>First, all patients were admitted acutely with a polysymptomatic presentations (86,6 %) mainly affecting the motor system (92,8 %). The largest diagnostic group was MS (n = 10, 66,6 %) with 9 out of 10 individual's diagnosed during follow up. At least one new clinical or radiological relapse was observed in 12 patients with a mean occurrence of 9 and 14 months respectively. All cases who developed a radiological relapse and most (n: 9, 75 %) of those who experienced a clinical relapse were diagnosed with MS and all had new lesions at the time of diagnosis. All children with MS had positive OCBs. X children were diagnosed with xxxxx Most TDLs (21/24, 87,5 %) were localized in the supratentorial area. TDL + other demyelinating lesions were observed in most 12/15 (80 %) patients and the size of TDL was between 2 and 4 cm (20/24, 83.3 %). All patients with MS, whether they had a single TDL or multiple TDLs, had accompanying small demyelinating lesions. On follow-up all TDLs became smaller (14/15, 93,3 %) or resolved (n = 1).</div></div><div><h3>Conclusion</h3><div>The non-infiltratind pattern, presence of multiple small demyelinating lesions and CSF oligoclonal band positivity may suggest MS, which is one of the most common causes. However, for a definitive diagnosis, patients should continue to be monitored with radiological imaging even in the absence of clinical relapses.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Pages 33-37"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143642706","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}
引用次数: 0
The first experience with 16 open microsurgical fetal surgeries for myelomeningocele in Germany
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-03-01 DOI: 10.1016/j.ejpn.2025.03.009
Ahmed El Damaty , Michael Elsässer , Ulrich Pfeifer , Urania Kotzaeridou , Christian Gille , Julia Spratte , Oliver Zivanovic , Christoph Sohn , Sandro M. Krieg , Heidrun Bächli , Andreas Unterberg
{"title":"The first experience with 16 open microsurgical fetal surgeries for myelomeningocele in Germany","authors":"Ahmed El Damaty ,&nbsp;Michael Elsässer ,&nbsp;Ulrich Pfeifer ,&nbsp;Urania Kotzaeridou ,&nbsp;Christian Gille ,&nbsp;Julia Spratte ,&nbsp;Oliver Zivanovic ,&nbsp;Christoph Sohn ,&nbsp;Sandro M. Krieg ,&nbsp;Heidrun Bächli ,&nbsp;Andreas Unterberg","doi":"10.1016/j.ejpn.2025.03.009","DOIUrl":"10.1016/j.ejpn.2025.03.009","url":null,"abstract":"<div><h3>Introduction</h3><div>Fetal surgery for spina bifida aperta has achieved great advancement in last decade offering three possible methods for surgical repair. Open fetal microsurgical repair still remains the gold standard considering long-term results available. Since 2016, we established a program offering this modality of treatment in Germany.</div></div><div><h3>Patients and methods</h3><div>All patients who underwent interdisciplinary prenatal evaluation following a standardized protocol between June 2016–June 2024. Sacral lesions were excluded. The surgical technique and protocol used were similar to that described in Management Of Myelomeningocele Study (MOMS).</div></div><div><h3>Results</h3><div>Sixteen patients underwent surgery for spina bifida aperta without fetal nor maternal deaths. Microsurgical fetal repair was performed between 24th and 25th week of gestation age (GA) (Mean: 24 + 5 weeks GA). Lesion levels were mainly lumbosacral (n = 15) and one thoracolumbar (n = 1). Repair was successful in all 16 cases and with reversible hindbrain herniation at time of birth in 13/16 patients (81.3 %). Average time of delivery was 33 + 5 weeks GA, with 8 preterm deliveries occurring before 37 weeks GA; average birth weight was 2193 g. Maternal complications included 2 patients with uterine scar thinning. Hydrocephalus management was needed in 5/16 patiens (31.25 %) via ventriculo-peritoneal shunting.</div></div><div><h3>Conclusion</h3><div>Open fetal repair of spina bifida aperta in selected fetuses is safe and offers the unborn child a better quality of life but does not cure the disease and is not without risks or complications. Collaboration within the pediatric community is recommended to compile data in a common registry to develop standardized treatment and follow-up protocols.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Pages 79-86"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143705558","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}
引用次数: 0
Transcranial magnetic stimulation in children with fetal alcohol spectrum disorder: A randomised, crossover pilot-trial
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-03-01 DOI: 10.1016/j.ejpn.2025.03.013
Jasmin Hubert , Vivien Schmidt , Esther Wittmann , Anja Melder , Anna Lomidze , Nancy Smit , Lucia Bulubas , Mattia Campana , Ulrike Vogelmann , Beate Dornheim , Frank Padberg , Florian Heinen , Mirjam N. Landgraf
{"title":"Transcranial magnetic stimulation in children with fetal alcohol spectrum disorder: A randomised, crossover pilot-trial","authors":"Jasmin Hubert ,&nbsp;Vivien Schmidt ,&nbsp;Esther Wittmann ,&nbsp;Anja Melder ,&nbsp;Anna Lomidze ,&nbsp;Nancy Smit ,&nbsp;Lucia Bulubas ,&nbsp;Mattia Campana ,&nbsp;Ulrike Vogelmann ,&nbsp;Beate Dornheim ,&nbsp;Frank Padberg ,&nbsp;Florian Heinen ,&nbsp;Mirjam N. Landgraf","doi":"10.1016/j.ejpn.2025.03.013","DOIUrl":"10.1016/j.ejpn.2025.03.013","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Pages 111-120"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143800644","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}
引用次数: 0
Magnetic resonance imaging of masticatory muscles in patients with duchenne muscular dystrophy
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-03-01 DOI: 10.1016/j.ejpn.2025.03.008
Carmen Meza Fuentealba , Cristobal Arrieta , Catalina González , Nicolás Aranda Ortega , Luis Salinas , Rocío Cortés Zepeda , María de los Ángeles Beytía Reyes , Raúl G. Escobar , Sergio Uribe , Daniela Avila-Smirnow
{"title":"Magnetic resonance imaging of masticatory muscles in patients with duchenne muscular dystrophy","authors":"Carmen Meza Fuentealba ,&nbsp;Cristobal Arrieta ,&nbsp;Catalina González ,&nbsp;Nicolás Aranda Ortega ,&nbsp;Luis Salinas ,&nbsp;Rocío Cortés Zepeda ,&nbsp;María de los Ángeles Beytía Reyes ,&nbsp;Raúl G. Escobar ,&nbsp;Sergio Uribe ,&nbsp;Daniela Avila-Smirnow","doi":"10.1016/j.ejpn.2025.03.008","DOIUrl":"10.1016/j.ejpn.2025.03.008","url":null,"abstract":"<div><div>Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy in children. Impairment of masticatory function and swallowing disorders, potentially leading to aspiration and gastrostomy, are linked to fatty infiltration in the masticatory muscles, as previously observed in muscle ultrasound. This study aims to quantify muscle volume and fat fraction in muscle magnetic resonance imaging (MRI) in the masticatory muscles in non-ambulant DMD patients compared to healthy controls and evaluate their correlation with maximum bite force (MBF), which has not been previously described. Fifteen patients with DMD and 16 controls were included. MBF was measured with an oral dynamometer and total muscle volume (TMV) and fat signal fraction (FSF) were quantified using MRI with the Dixon technique. Four DMD patients presented with masticatory or swallowing difficulties. DMD patients had a significantly lower median MBF (141.8 N) compared with healthy controls (481.6 N, p &lt; 0.0001). Additionally, median FSF was significantly higher in DMD patients (47.07 %) compared to controls (5.31 %, p &lt; 0.0001). A strong negative correlation between TMV and MBF was observed in DMD patients (ρ = −0.70, p = 0.0048). A significant negative correlation between MBF and normalized FSF was observed in healthy controls (ρ = −0.5487, <em>p</em> = 0.300) and DMD patients (ρ = −0.5893, <em>p</em> = 0.0224). A non-significant positive correlation between age and FSF in DMD was detected (ρ = 0.38, p = 0.17). MBF, TMV and FSF quantified with the Dixon MRI are sensitive measures to evaluate masticatory function in DMD patients and may serve as biomarkers for clinical follow up. Studies in older patients are needed to evaluate the predictive role of MBF, TMV and FSF in the nutritional status of patients and the need for therapeutic interventions such as gastrostomy.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Pages 47-55"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143644193","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}
引用次数: 0
Inherited disorders of vitamin metabolism
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-03-01 DOI: 10.1016/j.ejpn.2025.02.008
Barbara Plecko
{"title":"Inherited disorders of vitamin metabolism","authors":"Barbara Plecko","doi":"10.1016/j.ejpn.2025.02.008","DOIUrl":"10.1016/j.ejpn.2025.02.008","url":null,"abstract":"<div><div>Vitamins are essential cofactors of various enzyme reactions in amino acid, neurotransmitter, nucleotide and energy metabolism. Over the past decade a number of inborn errors of metabolism have been identified, that affect different steps in vitamin absorption, transport, activation or recycling and repair of active vitamin cofactors. According to the respective cofactor function this may result in acute or chronic multisystem disease or in disorders that selectively affect the nervous system. Most of these disorders are amenable to specific treatment with excellent results, but diagnostic delay can lead to rapid, irreversible damage or even death. Therefore, especially in case of acute and severe neurologic presentations compatible with one of the here discused disorders, a vitamin trial should be considered while awaiting results of biochemical and genetic testing. Diagnosis of these disorders is especially rewarding, as treatment is often per oral, available worldwide and comparably cheap. This article will review current knowledge of the clinical presentation, biomarkers and specific treatment of inborn errors of vitamin metabolism and illustrates why child neurologists should have vitamins in their pockets.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Pages 18-32"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143629153","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}
引用次数: 0
Pediatric paroxysmal movement disorders - A clinical epidemiological study in an Irish cohort
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-03-01 DOI: 10.1016/j.ejpn.2025.03.006
Susan Harvey , Nicholas M. Allen , Susan Byrne , Bryan Lynch , Niamh McSweeney , Siobhan Neville , Olivia O'Mahony , Mary O'Regan , Declan O'Rourke , Elaine Reade , David Webb , Mary D. King , Kathleen M. Gorman
{"title":"Pediatric paroxysmal movement disorders - A clinical epidemiological study in an Irish cohort","authors":"Susan Harvey ,&nbsp;Nicholas M. Allen ,&nbsp;Susan Byrne ,&nbsp;Bryan Lynch ,&nbsp;Niamh McSweeney ,&nbsp;Siobhan Neville ,&nbsp;Olivia O'Mahony ,&nbsp;Mary O'Regan ,&nbsp;Declan O'Rourke ,&nbsp;Elaine Reade ,&nbsp;David Webb ,&nbsp;Mary D. King ,&nbsp;Kathleen M. Gorman","doi":"10.1016/j.ejpn.2025.03.006","DOIUrl":"10.1016/j.ejpn.2025.03.006","url":null,"abstract":"<div><h3>Background</h3><div>Paroxysmal movement disorders (PxMD) are characterized by episodic involuntary movements and include paroxysmal dyskinesias (PD) and episodic ataxias (EA). Although reported in the medical literature since 1892, the exact prevalence in children is unknown.</div></div><div><h3>Objectives</h3><div>To determine the prevalence and clinical characteristics of PxMD in the pediatric population in the Republic of Ireland.</div></div><div><h3>Methods</h3><div>Cross-sectional cohort study across pediatric neurology services in the Republic of Ireland incorporating retrospective chart, telephone and clinical reviews.</div></div><div><h3>Results</h3><div>Seventy-nine cases met the inclusion criteria (PD = 37, EA = 38, Alternating Hemiplegia of Childhood = 4). Point prevalence for all PxMD was 6.5 cases per 100,000 persons aged less than 18 years (PD 3/100,000, EA 3.1/100,000, Alternating Hemiplegia of Childhood 0.3/100,000). Sixty-four cases were clinically reviewed by the research team (PD = 33, EA = 31). A cause was identified in 38 % (24/64). The highest investigation yield was from single-gene testing (38 %, 9/24) followed by gene panels (25 %, 11/44). Variable evolution patterns were seen. In PD, 55 % (18/33) resolved and 30 % (10/33) improved. This was due to medication in 61 % (20/33), trigger avoidance in 6 % (2/33) and spontaneous remission in 18 % (6/33). In EA, 45 % (14/31) resolved and 42 % (13/31) improved, with spontaneous remission or improvement in 48 % (17/33).</div></div><div><h3>Discussion</h3><div>This study adds to the PxMD knowledge base by determining PxMD prevalence in a pediatric population for the first time. This prevalence is higher than previous adult population estimates. An aetiology was identified in one-third. A large proportion can expect symptom improvement either with medications, trigger avoidance or spontaneous remission over time.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Pages 70-78"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143682344","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}
引用次数: 0
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