European Journal of Paediatric Neurology最新文献

{"title":"Duchenne and Becker Muscular Dystrophies in Romania: a 10-year Retrospective Study","authors":"Maria Nedelcu ,&nbsp;Dana Craiu ,&nbsp;Elena Neagu ,&nbsp;Carmen Magdalena Burloiu ,&nbsp;Catrinel Mihaela Iliescu ,&nbsp;Magdalena Budisteanu ,&nbsp;Ioana Minciu ,&nbsp;Diana Gabriela Barca ,&nbsp;Carmen Sandu ,&nbsp;Oana Tarta-Arsene ,&nbsp;Cristina Pomeran ,&nbsp;Cristina Motoescu ,&nbsp;Alice Dica ,&nbsp;Cristina Anghelescu ,&nbsp;Dana Surlica ,&nbsp;Daniela Iancu ,&nbsp;Niculina Butoianu","doi":"10.1016/j.ejpn.2025.09.004","DOIUrl":"10.1016/j.ejpn.2025.09.004","url":null,"abstract":"<div><div>Duchenne muscular dystrophy (DMD) is a rare fatal genetic disorder with a tight correlation between the genotype and the phenotype of the patients. However, the relationship between genotype and phenotype is yet incompletely understood, with some cases manifesting a different phenotype than predicted from their genotype. Since the genetic diagnosis is often targeted to specific gene sections, and the genotype-phenotype correlations guide early treatment decisions, accumulating clinical and epidemiological data for these rare disorders is required to refine local management strategies. This article describes the genotype and phenotype landscape of 239 patients treated in the Pediatric Neurology Clinic of the Clinic Psychiatry Hospital ”Prof. Dr. Alexandru Obregia” in Bucharest, using randomly collected data from a ten-year interval (2012–2022). It revealed a significant improvement in the quality of care, highlighted by a notable reduction in the average age at diagnosis in recent years, although considerable variability remains across counties. The study identified three mutations that were not previously described in the Edystrophin or TREAT-NMD DMD Global Database. The accuracy of the Reading-Frame rule was 88.4 % for deletions. For exceptions from the rule, the involvement of different isoforms, binding domains, structural domains, and the disturbance of the three-dimensional structure of the rod domain were not reliable indicators of the phenotype. 12.9 % of all patients had nonsense mutations with a DMD phenotype that could benefit from Ataluren treatment within the National Treatment Program, and 15 % were eligible for exon-skipping therapies, with exon 51 having the broadest applicability (7.1 %).</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"59 ","pages":"Pages 23-30"},"PeriodicalIF":2.3,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145222813","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":"Evolution of neuroimaging features in children with acute flaccid myelitis compared to other forms of childhood myelitis","authors":"Guido Goj ,&nbsp;Jelte Helfferich ,&nbsp;Ines El Naggar ,&nbsp;Ulrike Noßwitz ,&nbsp;Eva Bültmann ,&nbsp;Deiva Kumaran ,&nbsp;Jena Chung ,&nbsp;Ariane Biebl ,&nbsp;Leon Steigleder ,&nbsp;Dorothea Holzwarth ,&nbsp;Eva-Maria Wendel ,&nbsp;Andrea Bevot ,&nbsp;Hannes Andreas Nobel ,&nbsp;Jan G. Hengstler ,&nbsp;Robert Cleaveland ,&nbsp;Andreas Panzer ,&nbsp;K. Rostasy","doi":"10.1016/j.ejpn.2025.09.002","DOIUrl":"10.1016/j.ejpn.2025.09.002","url":null,"abstract":"<div><h3>Background</h3><div>Acute flaccid myelitis (AFM) is characterized by acute onset of flaccid limb weakness, MRI abnormalities in the spinal cord grey matter and CSF pleocytosis often associated with enterovirus infections. <em>MOG-associated diseases (MOGAD) can manifest with similar neuroradilogical features</em>.</div></div><div><h3>Objective</h3><div>To analyze MRI findings in patients with AFM at baseline and follow-up <em>in comparison to other forms of childhood transverse myelitis such as MOGAD.</em></div></div><div><h3>Patients and methods</h3><div>Children from 11 European centers who fulfilled the clinical criteria of AFM were included. Brain and spinal MRI was performed at various stages of the disease course. MRI scans were evaluated using a previously established scoring table and <em>compared with MRI scans of a recently published cohort of children with different forms of transverse myelitis including MOGAD</em>.</div></div><div><h3>Results</h3><div>We included 15 patients (8 females, 7 males, age range: 9 months-9,11 years). In 10/15 patients enterovirus was detected in respiratory/rectal specimens. At first presentation 13/15 patients presented with a longitudinal extensive transverse myelitis like involvement. Cervical grey matter was involved in almost all children. Axial involvement either manifested as grey matter alone or a mixture of white matter and grey matter hyperintensity in T2. Nerve root enhancement was found in 2/15 and leptomeningeal enhancement in 1/15 patients. 5/15 children had brainstem lesions. Follow-up MRI revealed residual T2 hyperintensities in 7/11 patients. Compared to patients with MOGAD AFM patients showed equally good resolution of MRI lesions overtime.</div></div><div><h3>Conclusion</h3><div>Longitudinal spinal cord lesions mainly affecting the grey matter are characteristic of AFM whereas supratentorial lesions are less common. There is no significant difference between AFM and MOGAD concerning the resolution of lesions overtime.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"59 ","pages":"Pages 18-22"},"PeriodicalIF":2.3,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145201997","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":"Determinants of long-term health-related quality of life in paediatric traumatic brain injury","authors":"Sophie M. Coffeng ,&nbsp;Harm J. van der Horn ,&nbsp;Manon L. Out ,&nbsp;Zwany Metting ,&nbsp;Roos M.D. van der Jagt ,&nbsp;Joukje van der Naalt","doi":"10.1016/j.ejpn.2025.09.003","DOIUrl":"10.1016/j.ejpn.2025.09.003","url":null,"abstract":"<div><h3>Introduction</h3><div>Information on health-related quality of life (HRQoL) after traumatic brain injury (TBI) for paediatric patients is scarce. Therefore, the aim of this study was to determine HRQoL and its risk factors in children several years after TBI.</div></div><div><h3>Methodology</h3><div>Data were obtained from a prospectively follow-up cohort study of paediatric TBI patients (aged 0–18 years) admitted to the emergency department of the UMCG between 2008 and 2016. Long-term HRQoL was measured by the PedsQL 4.0 questionnaire. Patient and trauma characteristics were collected from digital patient files and posttraumatic complaints were evaluated by a health questionnaire.</div></div><div><h3>Results</h3><div>416 children completed the PedsQL and the health questionnaire (17 % minor TBI, 65 % mild TBI, 8 % moderate TBI, and 10 % severe TBI). 52 % Of the children experienced long-term concentration problems, 52 % headache problems and 39 % memory problems. Memory problems were more present in the moderate-severe TBI group (p &lt; 0.01). The mean total PedsQL score for the total group of children was good: 84.8 ± 13.3 (SD) with a comparable score for parent-proxies (84.5 ± 14.0). Lower HRQoL was associated with lower GCS score at the ED (B 0.31 (95% CI 0.02 to 0.59)), posttraumatic memory problems (B −6.97 (95% CI -9.66 to −4.28)), concentration problems (B −6.76 (95% CI -9.36 to −4.15) and headache (B −4.06 (95% CI -6.33 to −1.78)).</div></div><div><h3>Conclusions</h3><div>Most paediatric TBI patients score their HRQoL as good several years after injury despite posttraumatic cognitive complaints and headache experienced by half of the patients. These complaints and lower GCS score have a negative influence on HRQoL.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"59 ","pages":"Pages 11-17"},"PeriodicalIF":2.3,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145187269","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":"The ins and outs of glycopyrronium treatment for paediatric drooling: exploring the treatment journey using real-world data","authors":"Lynn B. Orriëns ,&nbsp;Karen van Hulst ,&nbsp;Joyce M. Geelen ,&nbsp;Frank J.A. van den Hoogen ,&nbsp;Anne T.M. Dittrich ,&nbsp;Michèl A.A.P. Willemsen ,&nbsp;Corrie E. Erasmus","doi":"10.1016/j.ejpn.2025.09.001","DOIUrl":"10.1016/j.ejpn.2025.09.001","url":null,"abstract":"<div><h3>Introduction</h3><div>Anticholinergic medication is an important treatment option for paediatric drooling. We explored the practical application of glycopyrronium, an anticholinergic medicine registered for the paediatric population, focusing on treatment patterns, effectiveness and impact, adverse drug reactions (ADRs), and caregiver satisfaction.</div></div><div><h3>Methods</h3><div>A longitudinal, observational study was performed, including 22 children (3–18 years) newly treated with glycopyrronium for anterior and/or posterior drooling in our tertiary children's hospital between November 2020 and February 2024. We assessed a verbal numerical rating scale for drooling severity, Drooling Severity and Frequency Scale (DSFS), Measure of Performance and Satisfaction for Saliva Control (MPS), prevalence of ADRs, and dosage adjustments.</div></div><div><h3>Results</h3><div>At baseline, drooling was typically profuse and occurred frequently to constantly. The majority of children (86 %) took glycopyrronium thrice daily, with dose titration tailored to each child and medication primarily administered with food (56 %). A clinically important reduction in DSFS was observed in 53 % at the first follow-up appointment. Correspondingly, median MPS scores increased from 0.0 at baseline to 5.6 at follow-up (p &lt; .001) (0 = not dry; 10 = perfectly dry), indicating improved saliva control in situations impacted by drooling. ADRs were reported in 73 %, leading to treatment cessation in 36 %, primarily due to gastrointestinal issues and behavioural changes.</div></div><div><h3>Conclusions</h3><div>Our findings confirm the applicability of glycopyrronium under real-world conditions, complementing results from studies with more rigid designs. Insights into inter-individual differences in dose titration, timing of medication administration, and changes in effect or ADRs over time highlight the relevance of a tailored treatment approach.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"59 ","pages":"Pages 1-10"},"PeriodicalIF":2.3,"publicationDate":"2025-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145098681","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":"Limb girdle muscular dystrophies: striving to bridge a diagnostic gap","authors":"George Konstantinos Papadimas","doi":"10.1016/j.ejpn.2025.08.004","DOIUrl":"10.1016/j.ejpn.2025.08.004","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"58 ","pages":"Page A3"},"PeriodicalIF":2.3,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977201","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":"CSF IL-6 in pediatric neuroinflammation: Diagnosing disease or driving therapy?","authors":"Kumaran Deiva","doi":"10.1016/j.ejpn.2025.08.007","DOIUrl":"10.1016/j.ejpn.2025.08.007","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"58 ","pages":"Page A1"},"PeriodicalIF":2.3,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977156","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":"Deepening the understanding of mechanisms of antiepileptic effects of the ketogenic diet in children with AFG2A-related encephalopathy","authors":"Coriene Catsman-Berrevoets","doi":"10.1016/j.ejpn.2025.08.003","DOIUrl":"10.1016/j.ejpn.2025.08.003","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"58 ","pages":"Page A4"},"PeriodicalIF":2.3,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977174","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":"Improving understanding of long-term cognitive recovery after childhood ischemic stroke","authors":"Christine K. Fox","doi":"10.1016/j.ejpn.2025.08.006","DOIUrl":"10.1016/j.ejpn.2025.08.006","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"58 ","pages":"Page A2"},"PeriodicalIF":2.3,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977219","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":"Mid-to long-term disability and functional outcomes in pediatric patients with monophasic acute disseminated encephalomyelitis","authors":"Lorna Stemberger Marić ,&nbsp;Vladimir Trkulja ,&nbsp;Andrea Nikčević ,&nbsp;Goran Tešović","doi":"10.1016/j.ejpn.2025.08.008","DOIUrl":"10.1016/j.ejpn.2025.08.008","url":null,"abstract":"<div><h3>Background</h3><div>Acute disseminated encephalomyelitis (ADEM) is a rare disease characterized by encephalopathy, polyfocal symptoms and demyelination. Although its prognosis is generally favorable, there is growing evidence that subtle neuropsychological and motoric sequelae may persist years after the initial episode.</div></div><div><h3>Aim</h3><div>To assess the relationship between clinical, laboratory and radiological characteristics of the acute monophasic ADEM episode in children, and its immediate outcome, and long(er) term disability/functional status.</div></div><div><h3>Methods</h3><div>Retrospective chart review embraced all children managed for monophasic ADEM over 18 years at a single tertiary center. They were invited for a follow-up medical, neurological assessment, and disability/functional outcomes assessment [modified Rankin scale (mRS), Extended Disability Status Scale and Functional Systems Scores (EDSS-FSS)].</div></div><div><h3>Results</h3><div>Of the 65 children (age 10–250 months, median 90; 46.2 % boys), 40 (61.5 %) were judged as fully recovered, and 25 had sequelae, two of whom (aged 23 and 13 months) suffered severe ocular or cortical symptoms. Follow-up assessment 21–211 months (median 154) after hospital discharge embraced 41 children, 27 discharged as recovered, 14 with sequelae. Of the latter, the two children with severe sequelae were seriously disabled with decrease in mentation, while 11/14 had mRS 0, and EDSS-FSS 0. Of the former, 7 had mRS = 1 and one had mRS = 2, whereas 5 had EDSS-FSS = 2, and 2 had EDSS-FSS = 3, including 2 children with mood alterations and 2 with mild decrease in mentation.</div></div><div><h3>Conclusions</h3><div>Unless truly severe, acute episode sequelae do not predict long-term disability/functional deficiency. Children recovered after the acute episode may have mild symptoms/deficiencies in long term.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"58 ","pages":"Pages 92-98"},"PeriodicalIF":2.3,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144925671","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":"Mortality in Tuberous sclerosis Complex: Current understandings","authors":"Rowan Pentz ,&nbsp;Lauren Sham ,&nbsp;Maria Zak ,&nbsp;Katherine Muir ,&nbsp;Elisabetta Trinari ,&nbsp;Elizabeth J. Donner ,&nbsp;Maryam N. Nouri ,&nbsp;Robyn Whitney","doi":"10.1016/j.ejpn.2025.08.002","DOIUrl":"10.1016/j.ejpn.2025.08.002","url":null,"abstract":"<div><h3>Background</h3><div>Tuberous Sclerosis Complex (TSC) is a multisystemic neurocutaneous disorder caused by pathogenic loss of function variants in the tumour suppressor genes <em>TSC1</em> and <em>TSC2.</em> The resultant hamartomas confer significant medical risks by disruption of local tissues. Risk of mortality in TSC is known to be elevated, but only recently have multiple studies assessed specific causes of mortality in TSC.</div></div><div><h3>Methods</h3><div>A critical literature review of all available studies examining mortality in TSC was conducted using the terms “TSC”, “Tuberous Sclerosis Complex”, “mortality”, “death”, and “life expectancy”, in PubMed and Google Scholar, until December 15, 2024.</div></div><div><h3>Results</h3><div>We identified 13 studies that reported a total of 411 deaths from 6735 TSC individuals. Data were typically incomplete and causes of death in many cases were obtained from death certificates. Crude mortality per 100 individuals ranged from 1.4 to 13.8 over average intervals of 11–45 years. Standardized Mortality Ratios or hazard ratios (versus control group) ranged from 3.0 to 4.9 (mean 4.3). Mean life expectancy was 66.2 years compared to an average of 81.8 in the general population. In the seven studies that reported specific causes of mortality in the general TSC population, 6/7 studies (85 %) had renal or central nervous system disease as the most common cause of mortality. Lymphangioleiomyomatosis was also found to confer significant risk of mortality in adult women and cardiac rhabdomyomas were the dominant cause of neonatal mortality. TSC-associated neuropsychiatric disorders-related mortality and morbidity may be underestimated.</div></div><div><h3>Conclusion</h3><div>Mortality in TSC is elevated compared to the general population, with central nervous system and renal disease most frequently culpable. Further cohort studies will be required to establish and characterize the risk of mortality in TSC in the age of disease-modifying therapies.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"58 ","pages":"Pages 83-91"},"PeriodicalIF":2.3,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144828814","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}