European Journal of Paediatric Neurology最新文献

{"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}

{"title":"A life course perspective on mental disorders and psychopharmacologic drug use among persons living with cerebral palsy","authors":"Anna Linder ,&nbsp;Johan Jarl ,&nbsp;Kristina Tedroff","doi":"10.1016/j.ejpn.2024.11.001","DOIUrl":"10.1016/j.ejpn.2024.11.001","url":null,"abstract":"<div><div>In this study, we investigated the prevalence of mental disorders and the use of psychopharmacologic drugs among individuals with cerebral palsy (CP). We studied how the association between CP and mental illness develops over the life course (between ages 5 and 65 years), and how it varies across disability specific factors (intellectual disability, gross motor function and communicative ability). We used logistic regression models on a longitudinal matched case-control data material on all persons with CP in Sweden linked to several administrative registers including, the national patient registers and the pharmaceutical registers.</div><div>Our results showed that the probability of being diagnosed with mental disorders and being dispensed psychopharmacologic drug was significantly higher among persons with CP compared to persons without CP across the different outcomes [OR = 1.52–4.7]. For some mental and neurodevelopmental disorders including sleep disorders, autism, and ADHD, and for the use of anxiolytics and sedatives, there was a sizeable gap already in childhood. However, the excess burden of mental illness appeared to grow over the life course, indicating that adults with CP may be a particularly disadvantaged group. Diagnosis for mental disorders and dispensation for psychopharmacologic drugs were not consistent with respect to disability specific factors, especially communicative and intellectual function, which indicates the need for systematic approaches in the mental health care of individuals with CP.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 144-154"},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142607425","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":"Integrated hip surveillance pathways for pain, function and quality of life in children with Cerebral Palsy: A systematic literature review","authors":"Tanya M. McGrath ,&nbsp;Shea T. Palmer","doi":"10.1016/j.ejpn.2024.10.012","DOIUrl":"10.1016/j.ejpn.2024.10.012","url":null,"abstract":"<div><h3>Aim</h3><div>To determine the effectiveness of integrated hip surveillance pathways on pain, function and quality of life (QOL) in children with Cerebral Palsy (CP).</div></div><div><h3>Method</h3><div>A systematic literature review, designed, conducted and reported using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses. Inclusion criteria: confirmed CP diagnosis, management under recognised international hip surveillance pathways, outcome measures of hip displacement plus at least one other relevant to pain, function or QOL.</div></div><div><h3>Results</h3><div>100 articles were identified. 12 full text articles were screened, and four were included. Reduced range of movement was associated with hip pain in children with CP. Increasing age, Gross Motor Function Classification Score (GMFCS) and migration percentage (MP) were associated with increased hip pain. General health declined with increased age. Increased MP and GMFCS level were associated with interruption to activities of daily living.</div></div><div><h3>Interpretation</h3><div>Outcomes relating to function and QOL are under-researched in the current integrated hip surveillance pathway evidence-base. Wider outcomes related to function and QOL need to be included to capture the wider impact on children who are at risk of hip dislocation.</div></div><div><h3>What this paper adds</h3><div>Increased pain was associated with reduced joint range and increased migration percentage. Pain also increased with greater age and Gross Motor Function Classification Score. Early orthopaedic intervention for hip displacement may not successfully mitigate pain. Effectiveness of integrated pathways on function and quality of life is under-evidenced. Studies investigating integrated pathways and holistic outcomes are needed to inform practice.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 166-173"},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142640200","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}