European Journal of Paediatric Neurology最新文献

{"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}

{"title":"Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial","authors":"J. Downs ,&nbsp;P. Jacoby ,&nbsp;N. Specchio ,&nbsp;H. Cross ,&nbsp;S. Amin ,&nbsp;N. Bahi-Buisson ,&nbsp;R. Rajaraman ,&nbsp;B. Suter ,&nbsp;O. Devinsky ,&nbsp;A. Aimetti ,&nbsp;G. Busse ,&nbsp;H.E. Olson ,&nbsp;S. Demarest ,&nbsp;T.A. Benke ,&nbsp;E. Pestana-Knight","doi":"10.1016/j.ejpn.2024.06.005","DOIUrl":"https://doi.org/10.1016/j.ejpn.2024.06.005","url":null,"abstract":"<div><p>CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy. Ganaxolone, a neuroactive steroid, reduces the frequency of major motor seizures in children with CDD. This analysis explored the effect of ganaxolone on non-seizure outcomes. Children (2–19 years) with genetically confirmed CDD and ≥ 16 major motor seizures per month were enrolled in a double-blind randomized placebo-controlled trial. Ganaxolone or placebo was administered three times daily for 17 weeks. Behaviour was measured with the Anxiety, Depression and Mood Scale (ADAMS), daytime sleepiness with the Child Health Sleep Questionnaire, and quality of life with the Quality of Life Inventory-Disability (QI-Disability) scale. Scores were compared using ANOVA, adjusted for age, sex, number of anti-seizure mediations, baseline 28-day major motor seizure frequency, baseline developmental skills, and behaviour, sleep or quality of life scores. 101 children with CDD (39 clinical sites, 8 countries) were randomized. Median (IQR) age was 6 (3–10) years, 79.2 % were female, and 50 received ganaxolone. After 17 weeks of treatment, Manic/Hyperactive scores (mean difference 1.27, 95%CI –2.38,-0.16) and Compulsive Behaviour scores (mean difference 0.58, 95%CI -1.14,-0.01) were lower (improved) in the ganaxolone group compared with the placebo group. Daytime sleepiness scores were similar between groups. The total change in QOL score for children in the ganaxolone group was 2.6 points (95%CI -1.74,7.02) higher (improved) than in the placebo group but without statistical significance. Along with better seizure control, children who received ganaxolone had improved behavioural scores in select domains compared to placebo.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Pages 140-146"},"PeriodicalIF":2.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1090379824000916/pdfft?md5=9976a1b07c41ca3d3ed586dfc5261f87&pid=1-s2.0-S1090379824000916-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141484816","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}