European Journal of Paediatric Neurology最新文献

{"title":"Early motor, cognitive, language, behavioural and social emotional development in infants and young boys with Duchenne Muscular Dystrophy- A systematic review","authors":"Jasmine Hoskens ,&nbsp;Silke Paulussen ,&nbsp;Nathalie Goemans ,&nbsp;Hilde Feys ,&nbsp;Liesbeth De Waele ,&nbsp;Katrijn Klingels","doi":"10.1016/j.ejpn.2024.07.003","DOIUrl":"https://doi.org/10.1016/j.ejpn.2024.07.003","url":null,"abstract":"<div><p>Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder caused by mutations in the <em>dystrophin</em> gene. Deficiency of the dystrophin protein causes not only motor, but also cognitive, language, behavioural and social emotional problems. This is the first systematic review investigating five early developmental domains in boys with DMD between 0 and 6 years old. Interactions between different domains and links with mutation types and sites were explored.</p><p>A systematic search was performed in PubMed, Web of Science and Scopus. An adapted version of the Scottish Intercollegiate Guidelines Network (SIGN) Checklists for case-control and cohort studies was used to evaluate quality.</p><p>Fifty-five studies of high or acceptable quality were included. One was an RCT of level 1b; 50 were cohort studies of level 2b; and four were an aggregation of case-control and cohort studies receiving levels 2b and 3b. We found that young boys with DMD experienced problems in all five developmental domains, with significant interactions between these. Several studies also showed relationships between mutation sites and outcomes.</p><p>We conclude that DMD is not only characterised by motor problems but by a more global developmental delay with a large variability between boys. Our results emphasise the need for harmonisation in evaluation and follow-up of young boys with DMD. More high-quality research is needed on the different early developmental domains in young DMD to facilitate early detection of difficulties and identification of associated early intervention strategies.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"52 ","pages":"Pages 29-51"},"PeriodicalIF":2.3,"publicationDate":"2024-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141606139","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 “Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy” [Eur. J. Paediatr. Neurol. 47 (2023) 25-34]","authors":"","doi":"10.1016/j.ejpn.2023.12.004","DOIUrl":"10.1016/j.ejpn.2023.12.004","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Pages 149-150"},"PeriodicalIF":2.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1090379823001885/pdfft?md5=4e2061ba7fd95e971712e8e321e5d34e&pid=1-s2.0-S1090379823001885-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140960665","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":"Longitudinal semi-quantitative MRI values in CP-children under 3 years of age","authors":"","doi":"10.1016/j.ejpn.2024.05.014","DOIUrl":"10.1016/j.ejpn.2024.05.014","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Page 153"},"PeriodicalIF":2.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141192146","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":"Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders","authors":"Laia Nou-Fontanet ,&nbsp;Quang Tuan Rémy Nguyen ,&nbsp;Anne-Catherine Bachoud-Levi ,&nbsp;Carola Reinhard ,&nbsp;Chorea & Huntington Disease Group ERN-RND,&nbsp;Juan Darío Ortigoza-Escobar","doi":"10.1016/j.ejpn.2024.06.007","DOIUrl":"10.1016/j.ejpn.2024.06.007","url":null,"abstract":"<div><h3>Background</h3><p><em>NKX2-1</em>-related disorder (<em>NKX2-1</em>-RD) is a rare disease characterized by a triad of primary hypothyroidism, neonatal respiratory distress, and neurological features, including chorea.</p></div><div><h3>Objective</h3><p>This study aimed to identify discrepancies in the management of <em>NKX2-1</em>-RD among European Union (EU) specialists.</p></div><div><h3>Methods</h3><p>The ERN-RND Chorea &amp; Huntington disease group designed a survey to conduct a cross-sectional multicenter study on the management of <em>NKX2-1</em>-RD. Descriptive analysis was performed, and total responses are presented for each item.</p></div><div><h3>Results</h3><p>The study involved 23 experts from 13 EU countries with experience in evaluating hyperkinetic patients with <em>NKX2-1</em>-RD: 11 were adult specialists, and 12 were pediatric specialists. <em>NKX2-1</em>-RD diagnosis was made at different ages, with the most common initial symptoms being hypotonia and/or motor developmental delay (reported by 11 experts) and chorea (reported by 8 experts). Chorea involved various body parts and showed improvement as reported by 9 experts, stabilization by 12 experts, and worsening by 2 experts with age. The pharmacological treatment of chorea varied widely among the experts. Misdiagnosis was reported by 14 experts. <em>NKX2-1</em> pathogenic variants or deletions were confirmed in &gt;75 % of patients (reported by 12 experts). Pulmonary and endocrinology evaluations were requested by 7 and 12 experts, respectively. The management of psychiatric comorbidities also varied among the different experts.</p></div><div><h3>Conclusions</h3><p>This study highlights the need for a clinical practice guideline for the management of <em>NKX2-1</em>-RD to ensure that patients across the EU receive consistent and appropriate care. Such a guideline would benefit both doctors and healthcare practitioners.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Pages 110-117"},"PeriodicalIF":2.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141452086","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":"Gene therapy offers promise, but timing is crucial for SMA treatment","authors":"","doi":"10.1016/j.ejpn.2024.07.005","DOIUrl":"10.1016/j.ejpn.2024.07.005","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Pages A2-A3"},"PeriodicalIF":2.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141602075","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":"In memoriam: Jaap Valk, 1929–2024","authors":"Nicole I. Wolf,&nbsp;Marjo S. van der Knaap","doi":"10.1016/j.ejpn.2024.07.001","DOIUrl":"10.1016/j.ejpn.2024.07.001","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Page 148"},"PeriodicalIF":2.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1090379824000989/pdfft?md5=2921cdd20d8a116fb9e6e8229083e7fb&pid=1-s2.0-S1090379824000989-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141772911","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":"Validation of the Internet Addiction Test for Adolescents (IAT-A) in the Georgian language","authors":"T. Nadiradze ,&nbsp;S. Bakhtadze ,&nbsp;I. Kvachadze ,&nbsp;N. Khachapuridze","doi":"10.1016/j.ejpn.2024.06.006","DOIUrl":"10.1016/j.ejpn.2024.06.006","url":null,"abstract":"<div><h3>Background</h3><p>The internet has become an integral part of daily life, impacting various aspects, especially among children and adolescents. Internet overuse has been associated with numerous physical and mental health issues. Despite its significant implications, there is no universally accepted assessment tool for internet addiction. This study focuses on validating the Georgian version of the Internet Addiction Test (IAT) among pediatric patients aged 9 to 17, specifically the Internet Addiction Test - Adolescence (IAT – A).</p></div><div><h3>Methods</h3><p>The study, conducted in 2022–2023, involved pediatric patients from Givi Zhvania Pediatric Academic Clinic, generally healthy but with parental concerns about screen time. The IAT-A, a self-administered questionnaire, was adapted for cultural relevance. Translation-back-translation was employed for linguistic validation. Data was collected twice, with a 6-month interval. Statistical analyses included the Kappa coefficient, Kendall's tau test, paired <em>t</em>-test, and Bland-Altman plots.</p></div><div><h3>Results</h3><p>The translation process ensured linguistic accuracy and cultural relevance. The study included 100 participants (59 % boys, 41 % girls) with a mean age of 12 years. The mean IAT - A score remained consistently high over both testing periods. Kendall's tau correlation coefficient indicated a strong correlation (0.97), and Bland-Altman plots confirmed repeatability. The cut-off of 40 points identified 84 % as problematic internet users. Individual question analysis showed strong correlation and agreement.</p></div><div><h3>Conclusion</h3><p>The Georgian version of the IAT - A demonstrated reliability and consistency in assessing internet addiction among pediatric patients. The prevalence of problematic internet use among children referred to a university hospital because parents were worried about their internet use was indeed high. The study contributes valuable insights into internet addiction research in Georgia and underscores the importance of a standardized assessment tool. The repeatability of the scores of each question was strong among both groups of problematic internet users and non-problematic internet users, confirming that the Georgian version of IAT – A has high level of accuracy and can be used in internet addiction research.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Pages 125-131"},"PeriodicalIF":2.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1090379824000928/pdfft?md5=67c783dc39f9f765dda0916102604a84&pid=1-s2.0-S1090379824000928-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141472209","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":"Testing for MOG-IgG in CSF: Relevant or not?","authors":"","doi":"10.1016/j.ejpn.2024.07.004","DOIUrl":"10.1016/j.ejpn.2024.07.004","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Page A1"},"PeriodicalIF":2.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141581398","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":"What you see is what you get? Eye gaze as a window to vocabulary in Rett Syndrome","authors":"","doi":"10.1016/j.ejpn.2024.07.007","DOIUrl":"10.1016/j.ejpn.2024.07.007","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Page A5"},"PeriodicalIF":2.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141602076","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 “Autoantibody status, neuroradiological and clinical findings in children with acute cerebellitis” [Eur. J. Paediatr. Neurol. 47 (2023) 118–130]","authors":"","doi":"10.1016/j.ejpn.2024.04.010","DOIUrl":"10.1016/j.ejpn.2024.04.010","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Pages 151-152"},"PeriodicalIF":2.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1090379824000564/pdfft?md5=c6165849f511bcf8626857462a09d8cb&pid=1-s2.0-S1090379824000564-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140873203","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}