European Journal of Paediatric Neurology最新文献

{"title":"Towards new perspectives: International consensus guidance on dystonia in pediatric palliative care","authors":"Anna Mercante ,&nbsp;Nardo Nardocci ,&nbsp;Emilio Fernández-Alvarez ,&nbsp;Daniel E. Lumsden ,&nbsp;Julie Hauer ,&nbsp;Mercedes Bernadá ,&nbsp;Ross Drake ,&nbsp;Ulrika Kreicbergs ,&nbsp;Rocío Palomo-Carrión ,&nbsp;Marco Gemma ,&nbsp;Philippe Coubes ,&nbsp;Alfonso Fasano ,&nbsp;Jean-Pierre Lin ,&nbsp;Franca Benini ,&nbsp;Pediatric Dystonia and Palliative Care Group and the European Paediatric Neurology Society (EPNS)","doi":"10.1016/j.ejpn.2025.04.003","DOIUrl":"10.1016/j.ejpn.2025.04.003","url":null,"abstract":"<div><h3>Background</h3><div>Pediatric dystonias are associated with a broad spectrum of etiologies, resulting in a heterogeneous patient population in whom clinical presentation, evolution, and therapeutic needs may differ. These neurological symptoms are particularly common in children and adolescents with life-limiting and life-threatening conditions requiring pediatric palliative care (PPC). The impact on the child's quality of life is significant, as is distress for caregivers. Addressing and alleviating dystonia is key to providing good palliative care; however, there is limited evidence. A greater recognition and management of dystonia in this setting is urgently needed to provide appropriate interventions and care.</div></div><div><h3>Objectives</h3><div>To develop a standardized approach to dystonia in PPC.</div></div><div><h3>Materials and methods</h3><div>A two-round Delphi process explored the views of experts on the definition, assessment, monitoring, and treatment of dystonia in PPC. Professionals from different backgrounds and disciplines were invited worldwide. The final panel comprised 71 participants who completed a multi-statement online questionnaire.</div></div><div><h3>Results</h3><div>Fifty-three items were endorsed, providing expert, consensus-based recommendations.</div></div><div><h3>Conclusions</h3><div>The limited clinical knowledge of childhood dystonia represents a challenge, especially in children with palliative care needs. This study is a first international consensus on dystonia in PPC and offers novel approaches to improving the dystonia-related burden and advancing clinical practice in this vulnerable population.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 24-37"},"PeriodicalIF":2.3,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143858304","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}

{"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-¹. 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}

{"title":"Tumefactive demyelinating lesions: navigating the many faces of mimicry","authors":"Thomas Rossor ,&nbsp;Ming Lim","doi":"10.1016/j.ejpn.2025.04.007","DOIUrl":"10.1016/j.ejpn.2025.04.007","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Page A1"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143891403","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}

{"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⁺⁶ 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}

{"title":"Bilateral Greater Occipital Nerve injections could be useful in migraine status presenting to paediatric emergency departments","authors":"William Whitehouse","doi":"10.1016/j.ejpn.2025.04.006","DOIUrl":"10.1016/j.ejpn.2025.04.006","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Page A2"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143891404","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}

{"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}

{"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}

{"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}

{"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}

{"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}