European Journal of Paediatric Neurology最新文献

{"title":"Standardizing qualitative assessments of developing myelination on brain MRI","authors":"Andreas M. Rauschecker","doi":"10.1016/j.ejpn.2024.09.003","DOIUrl":"10.1016/j.ejpn.2024.09.003","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"52 ","pages":"Page A1"},"PeriodicalIF":2.3,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142156530","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":"Reliability and validity of a newly developed PANDAS/PANS questionnaire","authors":"Akita Bleibach ,&nbsp;Camilla Birgitte Sørensen ,&nbsp;Liselotte Skov ,&nbsp;Karl Bang Christensen ,&nbsp;Nanette Mol Debes","doi":"10.1016/j.ejpn.2024.07.008","DOIUrl":"10.1016/j.ejpn.2024.07.008","url":null,"abstract":"<div><h3>Objective</h3><p>This study aimed to examine the reliability and validity of a newly developed questionnaire for Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections (PANDAS) and Pediatric Acute-onset Neuropsychiatric Syndrome (PANS). The aim was to contribute to future standardisation of screening methods for symptoms and comorbidity, as well as the measurement of symptom severity, daily life impairment, and treatment effectiveness in individuals diagnosed with PANDAS/PANS.</p></div><div><h3>Methods</h3><p>27 items from the PANDAS/PANS questionnaire concerning symptoms and comorbidities associated with PANDAS/PANS were divided into ten domains. To assess the external validity, 119 PANDAS/PANS questionnaires from a cohort of 65 children with PANDAS/PANS were correlated with three well-known validated questionnaires: the Children's Yale-Brown Obsessive-Compulsive Scale (CY-BOCS), Attention Deficit Hyperactivity Disorder Rating Scale (ADHD-RS), and the Strengths and Difficulties Questionnaire (SDQ). The internal validity of the PANDAS/PANS questionnaire was assessed by correlating the PANDAS/PANS items with the domains.</p></div><div><h3>Results</h3><p>Internal consistency of the PANDAS/PANS questionnaire was high, measuring moderate to very strong correlations. The external correlations for the PANDAS/PANS questionnaire showed a higher correlation with the ADHD-RS and CY-BOCS (r_s ≥ 0.60) than with the SDQ (r_s &lt; 0.40).</p></div><div><h3>Conclusion</h3><p>The validity and clinical feasibility of the PANDAS/PANS questionnaire were confirmed as an effective tool for screening symptoms, assessing symptom severity, and evaluating comorbidity and daily life impairment in individuals with PANDAS/PANS. These findings can potentially enhance the management of PANDAS/PANS patients in both clinical and research settings.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"52 ","pages":"Pages 109-130"},"PeriodicalIF":2.3,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1090379824001053/pdfft?md5=1e7feec63bcd4ab9f5c073c04014267e&pid=1-s2.0-S1090379824001053-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141708585","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":"Understanding the scale of the problem: How to standardise the measurement of Childhood Movement Disorders?","authors":"Daniel E. Lumsden","doi":"10.1016/j.ejpn.2024.08.009","DOIUrl":"10.1016/j.ejpn.2024.08.009","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"52 ","pages":"Page A5"},"PeriodicalIF":2.3,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142229671","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 the scale of the problem: How to standardise the measurement of childhood movement disorders?","authors":"Daniel E. Lumsden","doi":"10.1016/j.ejpn.2024.08.008","DOIUrl":"10.1016/j.ejpn.2024.08.008","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Page 48"},"PeriodicalIF":2.3,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142315694","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":"Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec","authors":"Eduardo F. Tizzano ,&nbsp;Susana Quijano-Roy ,&nbsp;Laurent Servais ,&nbsp;Julie A. Parsons ,&nbsp;Sharon Aharoni ,&nbsp;Arpita Lakhotia ,&nbsp;Richard S. Finkel","doi":"10.1016/j.ejpn.2024.08.006","DOIUrl":"10.1016/j.ejpn.2024.08.006","url":null,"abstract":"<div><h3>Objective</h3><p>We describe outcomes following onasemnogene abeparvovec monotherapy for patients with ≥four <em>survival motor neuron 2</em> (<em>SMN2</em>) gene copies in RESTORE, a noninterventional spinal muscular atrophy patient registry.</p></div><div><h3>Methods</h3><p>We evaluated baseline characteristics, motor milestone achievement, post-treatment motor function, use of ventilatory/nutritional support, and adverse events as of December 22, 2022.</p></div><div><h3>Results</h3><p>At data cutoff, 19 patients in RESTORE had ≥four <em>SMN2</em> copies and were treated with onasemnogene abeparvovec monotherapy (n=12 [63.2%] four copies; n=7 [36.8%] &gt;four copies). All patients were identified by newborn screening and were reported as asymptomatic at diagnosis. Median age at onasemnogene abeparvovec administration was 3.0 months. Median time from treatment to last recorded visit was 15.4 months, with a range of post-treatment follow-up of 0.03–39.4 months. All 12 children who were assessed for motor development achieved new milestones, including standing alone (n=2) and walking alone (n=5). Five children reported one or more treatment-emergent adverse events (one Grade 3 or greater). No deaths or use of ventilatory/nutritional support were reported.</p></div><div><h3>Conclusions</h3><p>Real-world findings from the RESTORE registry indicate that patients with ≥four <em>SMN2</em> gene copies treated with onasemnogene abeparvovec monotherapy demonstrated improvements in motor function. Adverse events experienced by these patients were consistent with previously reported findings.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 18-24"},"PeriodicalIF":2.3,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1090379824001272/pdfft?md5=74c47887fa6805a28addefb81c3220a4&pid=1-s2.0-S1090379824001272-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142164534","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":"Exploring the correlation between paediatric narcolepsy and serum neurofilament light chain levels: An exploratory study","authors":"Weifeng Li ,&nbsp;Meijun Sun ,&nbsp;Chen Chen","doi":"10.1016/j.ejpn.2024.08.005","DOIUrl":"10.1016/j.ejpn.2024.08.005","url":null,"abstract":"<div><h3>Background</h3><p>The study seeks to assess serum neurofilament light chain (NfL) levels in paediatric narcolepsy-diagnosed patients. Moreover, it aims to explore the correlation between NfL levels and the severity of narcolepsy symptoms, sleep quality, and manifestations of anxiety and depression.</p></div><div><h3>Methods</h3><p>This retrospective analysis included 98 paediatric narcolepsy cases and 100 controls matched for age and gender. The study focused on comparing serum NfL levels across these groups. Severity of EDS in patients was measured with the Epworth Sleepiness Scale (ESS). Moreover, the Pittsburgh Sleep Quality Index (PSQI), Hamilton Depression Rating Scale-24 (HAMD-24), and Hamilton Anxiety Scale-14 (HAMA-14) were used to assess narcolepsy symptoms, sleep quality, and psychological conditions.</p></div><div><h3>Results</h3><p>Patients with paediatric narcolepsy had significantly higher serum NfL levels than controls (P &lt; 0.05). Additionally, a positive correlation was found between serum NfL levels and ESS scores (P &lt; 0.001). An independent link between serum NfL and paediatric narcolepsy was established via multiple logistic regression (OR = 0.943, 95 % CI = 0.921–0.993, P = 0.004). Moreover, serum NfL's diagnostic precision for paediatric narcolepsy was evident from the ROC curve area of 0.938 (95 % CI: 0.86–0.99, P &lt; 0.001).</p></div><div><h3>Conclusion</h3><p>The study implies a positive correlation between increased serum NfL levels and the severity of paediatric narcolepsy. Nevertheless, the causative link between serum NfL levels and paediatric narcolepsy remains uncertain, highlighting the need for larger sample sizes and well-structured cohort studies to offer more definitive.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"52 ","pages":"Pages 82-85"},"PeriodicalIF":2.3,"publicationDate":"2024-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142037603","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":"Cognitive and emotional-behavioural outcomes of Turkish Duchenne muscular dystrophy population and its association with motor function","authors":"Esra Aldırmaz,&nbsp;Numan Bulut,&nbsp;Öznur Yılmaz,&nbsp;İpek Alemdaroğlu-Gürbüz","doi":"10.1016/j.ejpn.2024.08.004","DOIUrl":"10.1016/j.ejpn.2024.08.004","url":null,"abstract":"<div><h3>Purpose</h3><p>The aim of this study was to examine the cognitive and emotional-behavioural outcomes of Turkish children with Duchenne muscular dystrophy (DMD) in comparison with healthy peers, to determine its relationship with motor functions, and to analyse the difference of cognitive and emotional-behavioural outcomes according to the site of mutations.</p></div><div><h3>Method</h3><p>Children aged 7–16 years with DMD (n = 68) and age-matched typically developing children (n = 33) were included in the study. The cognitive and emotional-behavioural status and the motor functions were assessed in detail. Children with DMD also divided into two groups as “proximal” and “distal” site mutation groups to compare the cognitive and emotional-behavioural outcomes.</p></div><div><h3>Results</h3><p>The children with DMD and typically developing children were similar in terms of age and body mass index (p &gt; 0.05). Significant differences were found between children with DMD and typically developing peers in almost all subtests of both cognitive and emotional-behavioural assessments (p &lt; 0.05). Cognitive and emotional-behavioural parameters were weakly correlated with specific motor parameters responsive to cognitive functioning (p &lt; 0.05). Children with distal site mutation performed significantly worser than those with proximal site mutation in particular cognitive subtest (p &lt; 0.05).</p></div><div><h3>Conclusions</h3><p>It is concluded that comprehensive and detailed evaluation of cognitive and emotional-behavioural features of children with DMD is essential for better implementation of rehabilitation programs to maintain motor function which especially requires cognitive ability, since a Turkish cohort represented challenges in particular domains of cognitive and emotional-behavioural areas.</p></div><div><h3>Clinical trial registration number</h3><p>NCT05661071.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"52 ","pages":"Pages 86-94"},"PeriodicalIF":2.3,"publicationDate":"2024-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142049791","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-profile and hypocretin levels in children with narcolepsy type 1 and 2","authors":"Maike Josler ,&nbsp;Ines El Naggar ,&nbsp;Annikki Bertolini ,&nbsp;Patrizia Kutz ,&nbsp;Claudia Roll ,&nbsp;Eva-Maria Wendel ,&nbsp;Bernhard Schlüter ,&nbsp;Andreas Hahn ,&nbsp;Sandy Siegert ,&nbsp;Anette Hackenberg ,&nbsp;Sameer M. Zuberi ,&nbsp;Markus Otto ,&nbsp;Kevin Rostásy","doi":"10.1016/j.ejpn.2024.08.003","DOIUrl":"10.1016/j.ejpn.2024.08.003","url":null,"abstract":"<div><h3>Background</h3><p>Narcolepsy is a rare neurological disease caused by dysfunction of hypocretin-producing neurons. Hypocretin concentrations in the cerebrospinal fluid (CSF) of less than 110 pg/ml are considered pathological in adults.</p></div><div><h3>Objectives</h3><p>To compare hypocretin levels of children with narcolepsy type 1, type 2 and disease control groups, in addition to a detailed CSF analysis, clinical and polysomnographic parameters.</p></div><div><h3>Methods</h3><p>In a retrospective, cross-sectional study, children diagnosed with narcolepsy based on clinical and polysomnographic parameters, who received a CSF analysis and hypocretin measurement, in addition to controls, were included. CSF was analyzed for the presence of cells, total protein, lactate, intrathecal synthesis of antibodies against measles, rubella and/or varicella zoster, and oligoclonal bands. All children had a complete sleep study including a multiple sleep latency test (MSLT).</p></div><div><h3>Results</h3><p>49 children with narcolepsy type 1, 15 children with type 2 and 37 children with other (suspected) neurological diseases were included. CSF routine analysis did not reveal any differences between the three groups. All children with narcolepsy type 1 had hypocretin levels of less than 110 pg/ml (range: 10–101 pg/ml). Hypocretin levels in type 2 patients ranged from 43 to 436 pg/ml (median 157 pg/ml). The median hypocretin level in the control cohort was 365 pg/ml (range: 153–583 pg/ml). In 4 children with narcolepsy type 2 the diagnosis was changed to narcolepsy level 1 because of a CSF hypocretin level of less than 110 pg/ml according to the recently proposed criteria, which consider the measurement of hypocretin in CSF.</p></div><div><h3>Conclusion</h3><p>Children with narcolepsy type 1 showed significantly lower CSF hypocretin levels than children with narcolepsy type 2 and controls. As suggested by the recently published narcolepsy criteria, hypocretin levels of less than 110 pg/ml should be used as an additional criterion for the presence of narcolepsy type 1 in children.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 1-7"},"PeriodicalIF":2.3,"publicationDate":"2024-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142122913","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":"Effects of cycling training on balance and gait in children with Duchenne muscular dystrophy: A randomized controlled study","authors":"Numan Bulut ,&nbsp;Ali İmran Yalçın ,&nbsp;Semra Topuz ,&nbsp;İpek Gürbüz ,&nbsp;Öznur Yılmaz ,&nbsp;Ayşe Karaduman","doi":"10.1016/j.ejpn.2024.08.001","DOIUrl":"10.1016/j.ejpn.2024.08.001","url":null,"abstract":"<div><h3>Background and aims</h3><p>Although aerobic exercises such as cycling and swimming are increasingly being recommended in Duchenne muscular dystrophy (DMD), their effect on gait and balance parameters is unclear. This study was aimed to investigate the effect of cycling training on balance and spatio-temporal gait parameters in children with DMD.</p></div><div><h3>Methods</h3><p>Ambulant children (age range: 6.17–11.33 years) were randomly divided into two groups: home-based exercise training applied in the control group (n = 12) while 12 weeks of supervised submaximal lower extremity cycling training in addition to home-based exercise training performed in the study group (n = 11). Gait and balance parameters were evaluated using the GAITRite electronic walkway system and the Bertec Balance Check Screener™, respectively. Assessments were applied before and after 12 weeks of training.</p></div><div><h3>Results</h3><p>The mean ages of the children in the study and control groups were 8.20 (SD:1.34) and 8.86 (SD:1.30) years, consecutively (p &gt; 0.05). Considering the baseline values, the balance and spatio-temporal gait parameters of the children were similar except for the antero-posterior postural sway on the perturbed surface with eyes open (p &gt; 0.05). There was a significant time x group interaction effect in favor of the study group for the antero-posterior postural sway of children on the normal surface with eyes open (<em>F</em> (1,58) = 12.62, p = 0.002). It was found that the antero-posterior postural sway on the normal surface with eyes open was improved in the study group within group comparison (<em>F</em> (1,10) = 8.50, p = 0.015).</p></div><div><h3>Conclusions</h3><p>The study showed that both the cycling and the home-based exercise training groups may maintain gait and balance parameters during the study. Adding a cycling training to the rehabilitation program can also provide additional contribution to improve antero-posterior balance.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"52 ","pages":"Pages 76-81"},"PeriodicalIF":2.3,"publicationDate":"2024-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141990499","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":"Age-appropriate or delayed myelination? Scoring myelination in routine clinical MRI","authors":"Inga Harting ,&nbsp;Sven F. Garbade ,&nbsp;Stefan D. Roosendaal ,&nbsp;Hannah Fels-Palesandro ,&nbsp;Clara Raudonat ,&nbsp;Alexander Mohr ,&nbsp;Nicole I. Wolf","doi":"10.1016/j.ejpn.2024.07.010","DOIUrl":"10.1016/j.ejpn.2024.07.010","url":null,"abstract":"<div><h3>Background</h3><p>Assessment of myelination is a core issue in paediatric neuroimaging and can be challenging, particularly in settings without dedicated paediatric neuroradiologists. Deep learning models have recently been shown to be able to estimate myelination age in children with normal MRI, but currently lack validation for patients with myelination delay and implementation including pre-processing suitable for local imaging is not trivial. Standardized myelination scores, which have been successfully used as biomarkers for myelination in hypomyelinating diseases, rely on visual, semiquantitative scoring of myelination on routine clinical MRI and may offer an easy-to-use alternative for assessment of myelination.</p></div><div><h3>Methods</h3><p>Myelination was scored in 13 anatomic sites (items) on conventional T2w and T1w images in controls (n = 253, 0–2 years). Items for the score were selected based on inter-rater variability, practicability of scoring, and importance for correctly identifying validation scans.</p></div><div><h3>Results</h3><p>The resulting myelination score consisting of 7 T2- and 5 T1-items delineated myelination from term-equivalent to advanced, incomplete myelination which 50 % and 99 % of controls had reached by 19.1 and 32.7 months, respectively. It correctly identified 20/20 new control MRIs and 40/43 with myelination delay, missing one patient with borderline myelination delay at 8.6 months and 2 patients with incomplete T2-myelination of subcortical temporopolar white matter at 28 and 34 months.</p></div><div><h3>Conclusions</h3><p>The proposed myelination score provides an easy to use, standardized, and versatile tool to delineate myelination normally occurring during the first 1.5 years of life.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"52 ","pages":"Pages 59-66"},"PeriodicalIF":2.3,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1090379824001211/pdfft?md5=238fec73a18a11d8cfe142571e53ec99&pid=1-s2.0-S1090379824001211-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141853469","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}