European Journal of Paediatric Neurology最新文献

{"title":"Clinical presentation, MR imaging and outcome in children with myelin oligodendrocyte glycoprotein antibody-negative acute disseminated encephalomyelitis","authors":"M. Panagi ,&nbsp;A. Blaschek ,&nbsp;A. Selek ,&nbsp;M. Baumann ,&nbsp;R. Cleaveland ,&nbsp;A. Panzer ,&nbsp;C. Conrad ,&nbsp;A. Della Marina ,&nbsp;K. Egler ,&nbsp;J. Finsterwalder ,&nbsp;T. Geis ,&nbsp;H. Hartmann ,&nbsp;M. Häusler ,&nbsp;P. Hofstetter ,&nbsp;M. Karenfort ,&nbsp;G. Kluger ,&nbsp;S. Leiz ,&nbsp;A. Merkenschlager ,&nbsp;M. Nosadini ,&nbsp;S. Sartori ,&nbsp;K. Rostasy","doi":"10.1016/j.ejpn.2025.05.009","DOIUrl":"10.1016/j.ejpn.2025.05.009","url":null,"abstract":"<div><h3>Background</h3><div>Acute disseminated encephalomyelitis (ADEM) without myelin oligodendrocyte glycoprotein (MOG) antibodies (abs) presents a diagnostic challenge.</div></div><div><h3>Objective</h3><div>To investigate whether the diagnosis of MOG-negative (neg) ADEM was confirmed over time and to highlight the clinical and neuroradiological characteristics distinguishing monophasic MOG-neg ADEM from alternative diagnoses.</div></div><div><h3>Material and methods</h3><div>Children diagnosed with a first clinical episode of MOG-neg ADEM and a dataset including clinical presentation, MRI, CSF studies and at least 3-month follow-up were included.</div></div><div><h3>Results</h3><div>47 children with MOG-neg ADEM were identified (m:f = 27:20 , median age 8.0 years. 38 (79.2 %) children maintained the initial diagnosis after a median follow-up of 34.2 months. In 9 (19.1 %) children an alternative diagnosis was assigned after a median follow-up of 4.2 months including multiple sclerosis (MS) n = 2; glioblastoma (GBM) n = 2; hemophagocytic lymphohistiocytosis (HLH) n = 2; CNS vasculitis n = 1; ADEM followed by optic neuritis (ADEMON) n = 2. Cerebral white matter lesions were identified in 84.2 % of MOG-neg ADEM children. Gadolinium enhancement was noted in 11.4 % of MOG-neg ADEM children. Of 38 MOG-neg ADEM children, 9 (23.7 %) had only one atypical MRI finding, whereas 23 (60.5 %) showed multiple atypical MRI features. All children with alternative diagnoses exhibited more than one atypical MRI feature. The outcome was favorable (mRS &lt;/ = 2) in 36/38 (94.7 %) children with MOG-neg ADEM</div></div><div><h3>Conclusion</h3><div>A substantial number of children initially diagnosed with MOG-neg ADEM will have another diagnosis. Children with MOG-neg ADEM showed white matter lesions but also atypical MRI findings. Monophasic MOG-neg ADEM was associated with a favorable outcome.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"57 ","pages":"Pages 24-34"},"PeriodicalIF":2.3,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144170513","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":"Acute seizures and the risk of post-stroke epilepsy in children with arterial ischemic stroke","authors":"Andrea Rüegger ,&nbsp;Eliane Pfister ,&nbsp;Regula Everts ,&nbsp;Tatia Aprasidze ,&nbsp;Arsany Hakim ,&nbsp;Gabriela Oesch ,&nbsp;Mária Regényi ,&nbsp;Maja Steinlin ,&nbsp;Iciar Sanchez-Albisua","doi":"10.1016/j.ejpn.2025.05.008","DOIUrl":"10.1016/j.ejpn.2025.05.008","url":null,"abstract":"<div><h3>Objectives</h3><div>This study aims to investigate the incidence, risk factors, and long-term outcomes of acute symptomatic seizures and post-stroke epilepsy in a cohort of children and adolescents who suffered from arterial ischemic stroke (AIS-C).</div></div><div><h3>Methods</h3><div>Children and adolescents (aged 29 days to 16 years) with AIS-C were prospectively enrolled in the population-based Swiss Neuropediatric Stroke Registry (SNPRS) between 2000 and 2020. Demographic data, clinical presentation, and seizure characteristics were documented. Follow-up evaluations were performed at six- and 24-months post-stroke to assess the development of epilepsy. Risk factors for acute seizures and post-stroke epilepsy were analysed using univariate regression models. Of 315 patients with AIS, 201 children were male (63.5 %), with a median age of 6.1 years (IQR: 2.1–11.4). Acute seizures were observed in 75 (23.8 %) children, being the initial symptom in 44/75 (58.7 %). Status epilepticus occurred in 12/75 (16.0 %). Acute symptomatic seizures were associated with younger age (median 1.1 years [IQR 0.4–6.0] vs 7.2 years [IQR 3.8–12.2]; p &lt; 0.001) and cortical involvement (OR 3.3; 95 % CI 1.8–6.0; p &lt; 0.001). At the 6-month follow-up, 12 patients (4.5 %) had developed active epilepsy and 12 patients (5.4 %) at 24 months. The presence of acute symptomatic seizures did not increase the risk for epilepsy at 6 months (OR 1.5; 95 % CI 0.5 to 5.1; p = 0.47) but was associated with a higher risk at 24 months (OR 3.2; 95 % CI 1.0 to 10.7; p = 0.047). The most common stroke aetiologies, classified using the Childhood AIS Standardized Classification and Diagnostic Evaluation (CASCADE) criteria, were cardioembolic (32.0 % in patients with acute seizures vs 18.4 % in those without) and unilateral focal cerebral arteriopathy (22.7 % vs 26.4 %). Stroke aetiology remained undetermined in 20.0 % vs 31.8 %. Drug-resistant epilepsy was reported in seven children (2.2 %) with severe comorbid conditions, such as congenital heart disease and sepsis. Children with post-stroke epilepsy experienced significantly worse neurological outcomes, as measured by the Pediatric Stroke Outcome Measure (PSOM), compared to children without post-stroke epilepsy (median PSOM score 3.0 vs. 0.5, p &lt; 0.001).</div></div><div><h3>Conclusions</h3><div>Acute symptomatic seizures are a common complication of paediatric ischemic stroke and are strongly associated with younger age and cortical involvement. Although these seizures do not predict early epilepsy development at 6 months, they are a risk factor for post-stroke epilepsy at 24 months. Children with post-stroke epilepsy show poorer neurological outcomes and those with severe underlying conditions are at an increased risk of drug-resistant epilepsy. These findings highlight the need for careful monitoring and early intervention in children with high-risk profiles.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"57 ","pages":"Pages 15-23"},"PeriodicalIF":2.3,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144139252","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":"Is late diagnosis of Duchenne muscular dystrophy still a reality?","authors":"Michele Michelin Beckerq ,&nbsp;Juliana Gurgel-Giannetti ,&nbsp;Alexandra Prufer de Queiroz Campos Araujo ,&nbsp;Marcela Câmara Machado Costa ,&nbsp;Têmis Maria Félix ,&nbsp;Cláudia Fernandes Lorea ,&nbsp;Adriana Banzzatto Ortega ,&nbsp;Michelle Silva Zeny ,&nbsp;Thayne Woycinck Kowalski ,&nbsp;Pablo Brea Winckler ,&nbsp;Leonardo Simão Medeiros ,&nbsp;Clara Catharino Pinhati ,&nbsp;Ana Carolina Monteiro Lessa de Moura ,&nbsp;Jonas Alex Morales Saute ,&nbsp;Flávia Nardes","doi":"10.1016/j.ejpn.2025.05.004","DOIUrl":"10.1016/j.ejpn.2025.05.004","url":null,"abstract":"<div><div>Duchenne muscular dystrophy (DMD) is a progressive X-linked recessive neuromuscular disorder caused by pathogenic variants in the <em>DMD</em> gene manifesting in early childhood with progressive muscle weakness. First symptoms of muscle weakness usually appear around age of three, however, other signs of the disease like muscle hypertrophy, poor motor skills and social, language and motor delay can be detected earlier. Significant delays in the diagnostic process for DMD have been reported in many countries, with the diagnosis generally being made around five years. A collaborative historical cohort study was conducted to identify the age at diagnosis of DMD in five neuromuscular centers in Brazil, covering cases diagnosed between January 2019 and March 2024. In addition to data from the centers, data on age at diagnosis were obtained from The Brazilian National Network for Rare Diseases (RARAS). The final analytic cohort included 173 DMD individuals. The mean age at which patients were diagnosed with probable DMD based on clinical suspicion was 5.7 (±2.7) years, with diagnostic confirmation by genetic testing/muscle biopsy at 6.9 (±4.0) years, with medians of 6.0 and 6.8 years, respectively. The mean age at which parents noticed symptoms was 3.4 (±1.9) years with a median of 3.0 years. The most frequently observed initial symptoms by parents included frequent falls (35.5 %), gait abnormalities (31.4 %), difficulties in stair climbing (17.2 %), developmental delay (13.6 %), and difficulties in rising from the floor (8.9 %). The presence of co-occurring neurocognitive conditions was associated with a delay of 1.12 years (p = 0.008) in the median age at suspected diagnosis and 1.0 years in the median age at diagnosis confirmation (p = 0,022). These results suggest that while there have been improvements in the age of diagnosis of DMD in Brazil in recent decades, diagnosis still occurs later than ideal and then what has been achieved in high-income countries.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"57 ","pages":"Pages 35-40"},"PeriodicalIF":2.3,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144170514","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":"Quantitative assessment of muscle atrophy and structural changes in children with spinal muscular atrophy using ultrasound imaging","authors":"Yang Li ,&nbsp;Li Gao ,&nbsp;Meihuan Huang ,&nbsp;Yujuan Wang ,&nbsp;Jianguo Cao ,&nbsp;Feiqiu Wen ,&nbsp;Wenwu Xiao ,&nbsp;Qing Liu","doi":"10.1016/j.ejpn.2025.04.013","DOIUrl":"10.1016/j.ejpn.2025.04.013","url":null,"abstract":"<div><h3>Background:</h3><div>Spinal muscular atrophy (SMA) in children is a hereditary neuromuscular disorder characterized by motor neuron degeneration, which leads to progressive muscle weakness and impaired movement. Ultrasound imaging, owing to its non-invasive, radiation-free, and cost-effective nature, provides an invaluable tool for visualizing muscle morphology. This technique offers a significant advantage in the clinical evaluation of SMA. The aim of this study was to quantitatively assess muscle abnormalities in children with SMA using both conventional ultrasound and shear wave elastography (SWE), and to explore the potential of these imaging modalities in the assessment of the disease.</div></div><div><h3>Methods:</h3><div>A total of 20 patients with type II or III SMA, who had not received any prior disease-modifying treatment (DMT), were included in the SMA group. These patients were enrolled between May 2022 and January 2024. The control group comprised 20 healthy children matched for age and gender. Muscle thickness (MT) and shear wave velocity (SWV) of the biceps brachii (BB) and quadriceps femoris (QF) were measured using B-mode ultrasound and SWE. Ultrasound parameters were compared between children with SMA and healthy controls. Additionally, motor function in the SMA group was assessed using the Hammersmith Functional Motor Scale Expanded (HFMSE), and the correlation between ultrasound parameters and HFMSE scores was analyzed.</div></div><div><h3>Results:</h3><div>The BB-MT, BB-SWV, QF-MT and QF-SWV in the SMA group, were significantly lower than those in the control group (p = 0.030, 0.000, 0.004, and 0.001, respectively). Correlation analysis revealed a significant positive correlation between QF-MT and QF-SWV in the SMA group and the HFMSE score (r = 0.802, p = 0.000; r = 0.56, p = 0.000, respectively).</div></div><div><h3>Conclusions:</h3><div>Ultrasound imaging is an effective modality for detecting and quantifying muscle atrophy and structural changes in children with SMA. Moreover, it demonstrates a significant correlation with motor function, providing valuable insights into the clinical assessment of SMA.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"57 ","pages":"Pages 1-6"},"PeriodicalIF":2.3,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144083751","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":"Neurological outcomes and disability predictors in paediatric herpes simplex virus encephalitis: a multicentre cohort from French tertiary hospitals","authors":"Caroline Rey ,&nbsp;Laetitia Giorgi ,&nbsp;Hélène Maurey ,&nbsp;Anne-Lise Poulat ,&nbsp;Daniel Amsallem ,&nbsp;Anne Lepine ,&nbsp;Stéphane Auvin ,&nbsp;Renaldo Florence ,&nbsp;Juliette Ropars ,&nbsp;Emmanuel Cheuret ,&nbsp;Sarah Baer ,&nbsp;Jean-Marc Pinard ,&nbsp;Anne Rolland ,&nbsp;Pierre-Louis Leger ,&nbsp;Sylvie Nguyen The Tich ,&nbsp;Pierre Castelnau ,&nbsp;Pierre Meyer ,&nbsp;Sylvain Renolleau ,&nbsp;Diana Rodriguez ,&nbsp;Frederic Villega ,&nbsp;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 &lt;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 &lt; 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}

{"title":"Hepatocellular carcinoma in two unrelated patients with PNPO deficiency Epilepsy: A risk of long-term pyridoxal-5′-phosphate therapy?","authors":"Paola De Liso ,&nbsp;Richard Webster ,&nbsp;Barbara Plecko ,&nbsp;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}

{"title":"Brain morphometry and psychomotor development in children with PCH2A","authors":"Pablo Pretzel ,&nbsp;Antonia Herrmann ,&nbsp;Alice Kuhn ,&nbsp;Anna-Lena Klauser ,&nbsp;Julia Matilainen ,&nbsp;Elias Kellner ,&nbsp;Maren Hackenberg ,&nbsp;Simone Mayer ,&nbsp;Lucia Laugwitz ,&nbsp;Markus Uhl ,&nbsp;Samuel Groeschel ,&nbsp;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}

{"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 ,&nbsp;Anna Paul ,&nbsp;Undine Niederreiter ,&nbsp;Ludger Deiters ,&nbsp;Fabian B. Fahlbusch ,&nbsp;Patrick Morhart ,&nbsp;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 &lt;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}

{"title":"Approach to childhood tremors: Insights from a pediatric neurologist","authors":"Pinar Ozbudak,&nbsp;Elif Perihan Oncel,&nbsp;Canan Ustun,&nbsp;Deniz Menderes,&nbsp;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}

{"title":"Symptomatic management of pediatric dystonia: A call for multidisciplinary, individualized palliative care","authors":"Lindsey M. Vogt MD, MSc ,&nbsp;Darius Ebrahimi-Fakhari MD, PhD","doi":"10.1016/j.ejpn.2025.05.007","DOIUrl":"10.1016/j.ejpn.2025.05.007","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Page A1"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144129437","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}