European Journal of Paediatric Neurology最新文献

{"title":"SETD1B variants associated with absence seizures","authors":"Genfu Zhang ,&nbsp;Yue Niu ,&nbsp;Zhao Xu ,&nbsp;Jiong Qin ,&nbsp;Zhixian Yang","doi":"10.1016/j.ejpn.2024.12.002","DOIUrl":"10.1016/j.ejpn.2024.12.002","url":null,"abstract":"<div><h3>Aim</h3><div>Exploring the association between <em>SETD1B</em> variants and absence seizures (ASs).</div></div><div><h3>Methods</h3><div>We engaged a small cohort of four pediatric epilepsy patients with identified <em>SETD1B</em> variants and conducted a comprehensive review of 50 documented instances. Clinical profiles were meticulously compiled, and genetic screening was executed via trio-based whole-exome sequencing. Our literature survey centered on AS manifestations linked to <em>SETD1B</em> alterations, utilizing descriptive statistics for analysis.</div></div><div><h3>Results</h3><div>The quartet of new cases presented with developmental impediments, cognitive deficits, and epileptic manifestations. Pathogenicity was established in the detected <em>SETD1B</em> variants. Among the 54 individuals, 26 (accounting for 48.1 %) presented with AS during the course of the disease. The median seizure onset age stood at 44.8 months, with a majority displaying cognitive challenges and autistic traits. Anti-epileptic drug therapies proved efficacious in 70.8 % of the instances. Notably, variants within the N-SET, SET, and post-SET domains of <em>SETD1B</em> were prevalent in 46.2 % of the AS-afflicted cohort.</div></div><div><h3>Discussion</h3><div>Our findings accentuate the potential influence of <em>SETD1B</em> variants in AS pathogenesis, these variants may perturb neuronal excitability, possibly via modulation of histone methylation landscapes. The insights garnered here deepen our grasp of AS's genetic architecture.</div></div><div><h3>Conclusion</h3><div>Our study identified four novel <em>SETD1B</em> variants, highlighting that the importance of <span>AS</span> as part of the phenotype among individuals with <em>SETD1B</em>, demonstrated by 3 novel cases, and supported by review of the literature. Our findings also suggest that the SET domains may play a potential role in the pathogenesis of AS, providing a clue for future mechanistic research.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 68-74"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143100032","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":"Corrigendum to \"Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes\" [Europ. J. Paediatr. Neurol. 41 (2022) 8-18 doi.org/10.1016/j.ejpn.2022.08.006].","authors":"Ünsal Yılmaz, Kıvılcım Gücüyener, Merve Yavuz, Ibrahim Oncel, Mehmet Canpolat, Sema Saltık, Olcay Ünver, Ayşegül Neşe Çıtak Kurt, Ayşe Tosun, Sanem Yılmaz, Bilge Özgör, İlknur Erol, Ülkühan Öztoprak, Duygu Aykol Elitez, Meltem Çobanoğulları Direk, Muhittin Bodur, Serap Teber, Banu Anlar","doi":"10.1016/j.ejpn.2024.11.006","DOIUrl":"https://doi.org/10.1016/j.ejpn.2024.11.006","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774496","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 and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder","authors":"Alessandro De Falco ,&nbsp;Angela De Dominicis ,&nbsp;Marina Trivisano ,&nbsp;Nicola Specchio ,&nbsp;Maria Cristina Digilio ,&nbsp;Carmelo Piscopo ,&nbsp;Valeria Capra ,&nbsp;Marcello Scala ,&nbsp;Michele Iacomino ,&nbsp;Andrea Accogli ,&nbsp;Ferruccio Romano ,&nbsp;Vincenzo Salpietro ,&nbsp;Margherita Mancardi ,&nbsp;Pasquale Striano ,&nbsp;Francesca Felicia Operto ,&nbsp;Janina Gburek-Augustat ,&nbsp;Laurence Perrin ,&nbsp;Yline Capri ,&nbsp;Viviana Lupo ,&nbsp;Maurizio Elia ,&nbsp;Gaetano Terrone","doi":"10.1016/j.ejpn.2024.11.008","DOIUrl":"10.1016/j.ejpn.2024.11.008","url":null,"abstract":"<div><div>Pathogenic variants in the <em>SETD5</em> gene cause a neurodevelopmental disorder characterized by intellectual disability, autism, and facial dysmorphisms, with incomplete penetrance. To date, no distinctive neurological, psychiatric, electroencephalographic, and neuroimaging features have been identified in this condition. We expand the clinical phenotype of <em>SETD5</em>-related disorder by describing 28 previously unreported patients, 26 carrying single nucleotide variants, and 2 with copy number variations involving <em>SETD5</em> gene, focusing on neurological, psychiatric, EEG, and brain MRI data. In our cohort neurological symptoms include hypotonia (39.2 %), hyperkinetic movement disorders including stereotypies and chorea (21.4 %) and gait abnormalities ranging from tip-toe or unsteady walking and alterations of fine motor skills (35.7 %). Epilepsy was present in about 14 % of patients, including different types of seizures as epileptic spasms, focal motor, and non-motor seizures. Concerning the cognitive phenotype, intellectual disability or global developmental delay depending on age, ranging from mild to severe, was present in 75 % of cohort, 21.4 % exhibit borderline intellectual functioning while an individual has a normal intelligence quotient.</div><div>Other psychiatric comorbidities include autism, ADHD, psychotic disorder and other internalizing and externalizing symptoms.</div><div>Finally, we conduct a comprehensive review of the available literature, suggesting a possible genotype-phenotype correlation.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 8-17"},"PeriodicalIF":2.3,"publicationDate":"2024-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142699941","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":"IL-17 in serum and cerebrospinal fluid of pediatric patients with acute neuropsychiatric disorders: Implications for PANDAS and PANS","authors":"Foiadelli Thomas ,&nbsp;Loddo Nicolò ,&nbsp;Sacchi Lucia ,&nbsp;Viola Santi ,&nbsp;D'Imporzano Giulia ,&nbsp;Eugenia Spreafico ,&nbsp;Orsini Alessandro ,&nbsp;Ferretti Alessandro ,&nbsp;De Amici Mara ,&nbsp;Testa Giorgia ,&nbsp;Marseglia Gian Luigi ,&nbsp;Savasta Salvatore","doi":"10.1016/j.ejpn.2024.11.004","DOIUrl":"10.1016/j.ejpn.2024.11.004","url":null,"abstract":"<div><h3>Background</h3><div>Acute neuropsychiatric disorders are heterogeneous conditions resulting from interaction between genetic and environmental features. Among these, post infectious forms like Pediatric Acute-onset Neuropsychiatric Syndrome (PANS) and Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS) are common. Preclinical studies suggest a role of CNS T-helper-17/interleukin-17 (IL-17) inflammatory mediated response in the pathogenesis of these disorders. We analyze serum and cerebral-spinal fluid (CSF)-IL-17 concentrations in a cohort of patients with acute neuropsychiatric disease.</div></div><div><h3>Methods</h3><div>We retrospectively included patients &lt;14 years with acute neuropsychiatric symptoms from 2016 to 2020. IL-17 was determined on serum and CSF by means of quantitative sandwich enzyme immunoassay technique, and values were compared to serum and CSF controls. Variables were identified using univariate analysis with Pearson's regression test and X² test.</div></div><div><h3>Results</h3><div>58 subjects were included (67.8 % males, average age: 8.5 years). 50.8 % were classified as PANDAS, 11.8 % as PANS. Mean concentrations of serum IL-17 were higher in the study group compared to controls (p &lt; 0.0001). We observe a trend of increasing IL-17 in post-pubertal children both on serum (p = 0.05) and on CSF (p = 0.04). Coupled IL-17 concentration were higher in the CSF than in serum (p = 0.003), with a marked significance in the PANDAS and PANS group (p &lt; 0.001).</div></div><div><h3>Conclusion</h3><div>IL-17 is elevated in children and adolescents with acute neuropsychiatric conditions, both on serum and CSF. IL-17 could be involved in the pathogenesis of acute neuropsychiatric disorders in childhood. Further studies are necessary to validate its potential role as a diagnostic or prognostic biomarker.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 1-7"},"PeriodicalIF":2.3,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142660633","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":"Understanding North Star Ambulatory Assessment total scores and their implications for standards of care using observational data","authors":"Georgia Stimpson ,&nbsp;Meredith K. James ,&nbsp;Michela Guglieri ,&nbsp;Amy Wolfe ,&nbsp;Adnan Manzur ,&nbsp;Anna Sarkozy ,&nbsp;Giovanni Baranello ,&nbsp;Francesco Muntoni ,&nbsp;Anna Mayhew ,&nbsp;UK NorthStar Clinical Network","doi":"10.1016/j.ejpn.2024.09.004","DOIUrl":"10.1016/j.ejpn.2024.09.004","url":null,"abstract":"<div><div>NorthStar Ambulatory Assessment (NSAA) total score (TS) is an ordinal scale to evaluate disease progression and treatment response in ambulatory Duchenne Muscular Dystrophy individuals. Clinical management according to standard of care could be enhanced by understanding how changes in the TS could inform standards of care. Here we describe the associated item performance patterns in the NorthStar Database for ranges of NSAA TS and its timed tests (10 m walk/run and rise from floor). We then compare these patterns depending on whether a participant is on an improving/stable (≤2-point loss in the prior year) or declining (&gt;2-point loss in the prior year) trend. These TS and trends are subsequently linked and referenced to therapy standards of care. We included 761 participants from the UK NorthStar observational clinical database between 5 and 16 years, who were on steroids. Differences and trends in item ability, compensations, and times can suggest specific disease complications and lead towards anticipatory therapy recommendations. Families and therapists can benefit from using the TS and trend to guide therapy management.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 123-130"},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142577936","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":"In memoriam Dr. Ilona György","authors":"Katalin Hollódy","doi":"10.1016/j.ejpn.2024.09.008","DOIUrl":"10.1016/j.ejpn.2024.09.008","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages A1-A2"},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142744795","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":"Immune-mediated neurological syndromes associated with childhood cancers","authors":"Thomas Rossor ,&nbsp;Sanjay Tewari ,&nbsp;Jon Gadian ,&nbsp;Marios Kaliakatsos ,&nbsp;Paola Angelini ,&nbsp;Ming Lim","doi":"10.1016/j.ejpn.2024.10.013","DOIUrl":"10.1016/j.ejpn.2024.10.013","url":null,"abstract":"<div><div>The association of recognisable neurological conditions with an underlying malignancy is well described. In this review we explore the complex interplay of genetic, environmental and tumour factors which contribute to autoimmunity and paraneoplastic conditions. We review the current understanding of the pathogenesis of well recognised paraneoplastic conditions in children including Opsoclonus myoclonus ataxia syndrome, N-Methyl-D Aspartate receptor encephalitis and limbic encephalitis, and the broad approaches to treatment.</div><div>Rapid advances in oncological treatment has expanded the arsenal of therapeutic modalities. We explore the broad spectrum of immune therapies in childhood cancer, and the potential neurological complications of these novel therapies, and discuss the fine balance of risk and benefit that these bring.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 174-181"},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142640199","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":"Caregiver burden and therapeutic needs in dravet syndrome - A national UK cross-sectional questionnaire study","authors":"Erin Freeman-Jones ,&nbsp;Galia Wilson ,&nbsp;Claire Eldred ,&nbsp;Anthony Mercier ,&nbsp;Kirsty Hendry ,&nbsp;Adriana Swindler ,&nbsp;Joseph D. Symonds ,&nbsp;Sameer M. Zuberi ,&nbsp;Liam Dorris ,&nbsp;Andreas Brunklaus","doi":"10.1016/j.ejpn.2024.10.010","DOIUrl":"10.1016/j.ejpn.2024.10.010","url":null,"abstract":"<div><h3>Background and objectives</h3><div>Dravet Syndrome is a severe developmental and epileptic encephalopathy with significant care needs for affected individuals and families. Our objective was to characterise the caregiver burden and therapeutic needs of families caring for an individual with Dravet Syndrome from child to adulthood, to examine age related differences in co-morbidities, and identify current gaps in health and social care.</div></div><div><h3>Methods</h3><div>Cross-sectional national survey conducted by the patient advocacy group Dravet Syndrome UK (DSUK) emailed to registered families caring for an individual with a confirmed diagnosis of Dravet syndrome. To characterise the sample, quantitative data on demographics, diagnostic journey, co-morbidities, therapies, healthcare utilisation, social care and funding, and impact on family life were collected. Qualitative data were analysed using grounded theory to develop a model of impact and service need.</div></div><div><h3>Results</h3><div>165 out of 381 families (43 %) responded. 90 % of adult Dravet syndrome patients waited &gt;12 months to receive a diagnosis, compared to 25 % families with a young child (p &lt; 0.001). 96 % reported intellectual disability as co-morbidity, more frequently observed in older Dravet syndrome individuals (p &lt; 0.001), alongside autism/autistic-like symptoms (χ² = 15.3, df = 3 p = 0.001) and scoliosis (χ² = 28.4, df = 3, p &lt; 0.001). Sleep problems are associated with greater impact on caregiver's mental well-being (χ² = 13.2, df = 2, p &lt; 0.001). 77 % of families wished more discussions about sudden unexpected death in epilepsy (SUDEP) and 50 % rated the paediatric to adult transition experience as ‘poor’. 90 % of caregivers were unable to continue working as normal with negative impact on their quality of life (p = 0.024) and mental well-being (p = 0.007).</div></div><div><h3>Discussion</h3><div>Families are profoundly impacted by Dravet syndrome. Their experience changes over time as people with Dravet syndrome become older and present with increasing levels of health, cognitive and behavioural comorbidities. Families will benefit from improved communication with health care professionals, psychosocial interventions and better access to social care.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 138-143"},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142592938","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":"Advancing understanding and treatment of YWHAG-related developmental and epileptic encephalopathy","authors":"Brahim Tabarki MD","doi":"10.1016/j.ejpn.2024.11.003","DOIUrl":"10.1016/j.ejpn.2024.11.003","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Page A5"},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142631761","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 CSF hypocretin level useful for differentiating narcolepsy type 1 and 2?","authors":"Oliviero Bruni","doi":"10.1016/j.ejpn.2024.11.005","DOIUrl":"10.1016/j.ejpn.2024.11.005","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages A3-A4"},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142669600","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}