European Journal of Paediatric Neurology最新文献

{"title":"Motor imagery ability of children with duchenne muscular dystrophy: Reliability and validity of kinesthetic and Visual Imagery Questionnaire-10, and its association with cognitive status","authors":"Merve Bora-Zereyak,&nbsp;Numan Bulut,&nbsp;Öznur Yılmaz,&nbsp;İpek Alemdaroğlu-Gürbüz","doi":"10.1016/j.ejpn.2024.06.003","DOIUrl":"10.1016/j.ejpn.2024.06.003","url":null,"abstract":"<div><h3>Purpose</h3><p>To investigate validity and reliability of the Kinesthetic and Visual Imagery Questionnaire-10 (KVIQ-10) in children with Duchenne Muscular Dystrophy (DMD), to compare the motor imagery (MI) ability with age-matched controls, and to examine the relationship between MI ability and cognitive status.</p></div><div><h3>Methods</h3><p>The research involved 38 children who were diagnosed with DMD, as well as 20 healthy controls aged between 7 and 18 years. The KVIQ-10 was assessed for its test-retest reliability, internal consistency, construct and concurrent validity. The Motor Imagery Questionnaire for Children (MIQ-C) was selected as the gold standard test for concurrent validity. Cognitive function was assessed using the Modified Mini Mental Test (MMMT) and Montreal Cognitive Assessment (MoCA).</p></div><div><h3>Results</h3><p>KVIQ-10 showed excellent test-retest reliability (ICC&gt;0.90) and high internal consistency (Cronbach's alpha&gt;0.70). A moderate-to-strong association was found between KVIQ-10 and MIQ-C subscales (<em>p</em> &lt; 0.001). KVIQ-10 and MIQ-C subscores were statistically lower in the DMD group (p ≤ 0.05). A correlation was found between MoCA and KVIQ-10 in children with DMD (p ≤ 0.05).</p></div><div><h3>Conclusions</h3><p>The KVIQ-10 is a reliable and valid measure to assess the MI ability of children with DMD whose imagery ability was determined to be impaired.</p></div><div><h3>Clinical trial registration number and url</h3><p>NCT05559710 (<span>https://classic.clinicaltrials.gov/ct2/show/NCT05559710?term=NCT05559710&amp;draw=2&amp;rank=1</span><svg><path></path></svg>)</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Pages 118-124"},"PeriodicalIF":2.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141415942","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":"Response to the letter by Josef Finsterer, MD, PhD","authors":"","doi":"10.1016/j.ejpn.2024.06.010","DOIUrl":"10.1016/j.ejpn.2024.06.010","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Page 147"},"PeriodicalIF":2.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141460502","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":"Characterising the typical range of influenza-associated neurological symptoms in children","authors":"","doi":"10.1016/j.ejpn.2024.07.006","DOIUrl":"10.1016/j.ejpn.2024.07.006","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Page A4"},"PeriodicalIF":2.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141602074","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":"The effect of live music therapy on white matter microstructure in very preterm infants – A randomized controlled trial","authors":"Monia Vanessa Dewan ,&nbsp;Johannes Jungilligens ,&nbsp;Susann Kobus ,&nbsp;Marlis Diezel ,&nbsp;Anne-Kathrin Dathe ,&nbsp;Bernd Schweiger ,&nbsp;Britta Hüning ,&nbsp;Ursula Felderhoff-Müser ,&nbsp;Nora Bruns","doi":"10.1016/j.ejpn.2024.06.009","DOIUrl":"10.1016/j.ejpn.2024.06.009","url":null,"abstract":"<div><h3>Objective</h3><p>Music therapy (MT) is proposed to enrich the acoustic environment of very preterm infants (VPT) on the neonatal intensive care unit during a vulnerable period of brain development. The objective of this study was to investigate the effect of MT on the white matter (WM) microstructure. It is hypothesized that MT affects WM integrity in VPT.</p></div><div><h3>Methods</h3><p>Randomized controlled trial enrolling infants born &lt;32 weeks’ gestation. Infants were randomized to MT or standard care. Live MT was provided twice weekly from the second postnatal week onwards by a trained music therapist. At term equivalent age, participants underwent a cranial magnetic resonance imaging scan including sequences for diffusion tensor imaging analysis. Differences in WM microstructure were assessed using tract based spatial statistics with fractional anisotropy.</p></div><div><h3>Results</h3><p>Of 80 infants enrolled, 42 were eligible for diffusion tensor imaging analysis (MT: <em>n</em> = 22, standard care: <em>n</em> = 20). While primary tract based spatial statistics analysis revealed no significant differences between groups, <em>post hoc</em> analysis with uncorrected <em>p</em>-values and a significance threshold of <em>p</em> &lt; 0.01 revealed significant fractional anisotropy differences in several WM tracts including the bilateral superior longitudinal fasciculus, the left forceps minor and left fasciculus uncinatus, the corpus callosum, the left external capsule, and the right corticospinal tract.</p></div><div><h3>Conclusion</h3><p><em>Post hoc</em> analysis results suggest an effect of MT on WM integrity in VPT. Larger studies including long-term outcome are necessary to confirm these effects of MT on WM microstructure and to assess its impact on clinical neurodevelopment.</p></div><div><h3>Clinical trial registration</h3><p>Clinical trial number DRKS00025753.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Pages 132-139"},"PeriodicalIF":2.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1090379824000953/pdfft?md5=e0608e29184a2d862d748f3ccbdcf4c4&pid=1-s2.0-S1090379824000953-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141472208","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":"Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice","authors":"María Eugenia Amato ,&nbsp;Alejandra Darling ,&nbsp;Lucie Stovickova ,&nbsp;Stephen Attard ,&nbsp;Hendriekje Eggink ,&nbsp;Marc Engelen ,&nbsp;Michael Freilinger ,&nbsp;Salvatore Grosso ,&nbsp;Kinga Hadzsiev ,&nbsp;Isabella Moroni ,&nbsp;Nardo Nardocci ,&nbsp;David Neubauer ,&nbsp;Francesco Nicita ,&nbsp;Emanuela Pagliano ,&nbsp;Sandy Siegert ,&nbsp;Doriette Soler ,&nbsp;Laura A. van de Pol ,&nbsp;Gessica Vasco ,&nbsp;Marie Vidailhet ,&nbsp;Michel AAP. Willemsen ,&nbsp;Juan Darío Ortigoza-Escobar","doi":"10.1016/j.ejpn.2024.06.011","DOIUrl":"https://doi.org/10.1016/j.ejpn.2024.06.011","url":null,"abstract":"<div><h3>Aim</h3><p>This exploratory study evaluates rating scale usage by experts from the European Reference Network for Rare Neurological Diseases (ERN-RND) for paediatric MD, considering factors like diagnosis, intellectual disability, age, and transition to adult care. The aim is to propose a preliminary framework for consistent application.</p></div><div><h3>Methods</h3><p>A multicentre survey among 25 ERN-RND experts from 10 European countries examined rating scale usage in paediatric MD, categorizing MD into acute, non-progressive, and neurodegenerative types. Factors influencing scale choice and the transition to adult care practices were analysed. A comprehensive literature search was conducted to identify the earliest age of application of these scales in paediatric patients.</p></div><div><h3>Results</h3><p>The study identifies various rating scales and establishes their usage frequencies for different MDs. Experts highlighted the need for standardized scales and proposed preliminary evaluation strategies based on clinical contexts. Challenges in applying scales to young, non-cooperative patients were acknowledged.</p></div><div><h3>Interpretation</h3><p>The study recommends developing standardized rating scales for paediatric MDs to improve evaluations and data collection. It suggests potential scales for specific clinical scenarios to better evaluate disease progression. Comprehensive, patient-centred care remains crucial during the transition to adult care, despite the identified challenges. This exploratory approach aims to enhance patient outcomes and care.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"52 ","pages":"Pages 10-19"},"PeriodicalIF":2.3,"publicationDate":"2024-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141542721","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":"Consequences of vestibular hypofunction in children with ADHD/DCD","authors":"Tamar Gur-Hartman ,&nbsp;Ricardo Tarrasch ,&nbsp;Ayelet Zerem ,&nbsp;Riki Sokol-Novinsky ,&nbsp;Zohar Elyoseph ,&nbsp;Tally Lerman-Sagie ,&nbsp;Matti Mintz","doi":"10.1016/j.ejpn.2024.06.008","DOIUrl":"10.1016/j.ejpn.2024.06.008","url":null,"abstract":"<div><h3>Background</h3><p>Children with Attention Deficit Hyperactivity Disorder (ADHD) demonstrate a heterogeneous sensorimotor, emotional, and cognitive profile. Comorbid sensorimotor imbalance, anxiety, and spatial disorientation are particularly prevalent among their non-core symptoms. Studies in other populations presented these three comorbid dysfunctions in the context of vestibular hypofunction.</p></div><div><h3>Objective</h3><p>To test whether there is a subgroup of children with ADHD who have vestibular hypofunction presenting with concomitant imbalance, anxiety, and spatial disorientation.</p></div><div><h3>Methods</h3><p>Children with ADHD-only (n = 28), ADHD + Developmental Coordination Disorder (ADHD + DCD; n = 38), and Typical Development (TD; n = 19) were evaluated for vestibular function by the Dynamic Visual Acuity test (DVA-t), balance by the Bruininks-Oseretsky Test of motor proficiency (BOT-2), panic anxiety by the Screen for Child Anxiety Related Emotional Disorders questionnaire-Child version (SCARED-C), and spatial navigation by the Triangular Completion test (TC-t).</p></div><div><h3>Results</h3><p>Children with ADHD vs. TD presented with a high rate of vestibular hypofunction (65 vs. 0 %), imbalance (42 vs. 0 %), panic anxiety (27 vs. 11 %), and spatial disorientation (30 vs. 5 %). Children with ADHD + DCD contributed more frequent and severe vestibular hypofunction and imbalance than children with ADHD-only (74 vs. 54 %; 58 vs. 21 %, respectively). A concomitant presence of imbalance, anxiety, and spatial disorientation was observed in 33 % of children with ADHD, all sharing vestibular hypofunction.</p></div><div><h3>Conclusions</h3><p>Vestibular hypofunction may be the common pathophysiology of imbalance, anxiety, and spatial disorientation in children. These comorbidities are preferentially present in children with ADHD + DCD rather than ADHD-only, thus likely related to DCD rather than to ADHD disorder. Children with this profile may benefit from a vestibular rehabilitation intervention.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"52 ","pages":"Pages 1-9"},"PeriodicalIF":2.3,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141509479","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":"An updated systematic review on spinal muscular atrophy patients treated with nusinersen, onasemnogene abeparvovec (at least 24 months), risdiplam (at least 12 months) or combination therapies","authors":"Doris Giess,&nbsp;Judit Erdos,&nbsp;Claudia Wild","doi":"10.1016/j.ejpn.2024.06.004","DOIUrl":"https://doi.org/10.1016/j.ejpn.2024.06.004","url":null,"abstract":"<div><h3>Objective</h3><p>This systematic review provides an update on outcomes for patients with spinal muscular atrophy (SMA) type 1 to 4 treated with approved therapeutics, including the most recent, risdiplam, for an observation period of up to 48 months.</p></div><div><h3>Methods</h3><p>A systematic literature search was conducted in July 2023 in four databases. Selected publications were assessed for internal validity and risk of bias by two authors and relevant data were extracted into standardised tables. Results were summarised narratively as substantial heterogeneity of studies prevents meaningful quantitative analysis.</p></div><div><h3>Results</h3><p>Twenty observational studies and one RCT were included in the analysis, fifteen studies on nusinersen, one on onasemnogene abeparvovec and two on risdiplam. Evidence supports the effectiveness of the therapies in motor function improvement for up to 48 months of follow-up in the SMA types specified in their respective indications. Better results were observed with earlier treatment initiation and higher baseline function. Whilst motor improvement was consistently observed, regardless of SMA type or treatment used, we noted no significant improvements in respiratory and nutritional outcomes. Quality of life endpoints were rarely investigated. Adverse events were common but seldom classified as treatment–related except for post–lumbar puncture syndrome, which was frequently reported across nusinersen studies.</p></div><div><h3>Conclusion</h3><p>The treatment of SMA with the new therapies changes the disease phenotype with changes in motor function far exceeding any improvement in respiratory and nutritional function. Questions persist on long-term efficacy, potential regressions, impact on quality of life and social functioning, therapy duration, and discontinuation indicators.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Pages 84-92"},"PeriodicalIF":2.3,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1090379824000904/pdfft?md5=3280f2f523420124ee7fc8c3b164ee53&pid=1-s2.0-S1090379824000904-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141433787","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":"Perspectives of cerebral palsy experts on access to health care in Europe","authors":"Antigone Papavasiliou ,&nbsp;Sandra Julsen Hollung ,&nbsp;Daniel Virella ,&nbsp;Malika Delobel- Ayoub ,&nbsp;Katalin Hollódy ,&nbsp;David Neubauer ,&nbsp;Anja Troha Gergeli ,&nbsp;Catherine Arnaud","doi":"10.1016/j.ejpn.2024.06.002","DOIUrl":"10.1016/j.ejpn.2024.06.002","url":null,"abstract":"<div><h3>Aim</h3><p>To explore the perspectives of cerebral palsy (CP) experts on access to healthcare and an analysis of socioeconomic and environmental determinants impacting young individuals with CP in Europe.</p></div><div><h3>Method</h3><p>Cross-sectional survey designed by a convenience multi-disciplinary panel of invited experts and completed by clinicians, researchers and opinions leaders in the field of CP.</p></div><div><h3>Results</h3><p>Fifty-eight experts (response rate 85 %) from 39 regions in 26 European countries completed the survey. All countries provide care and financing through public systems. Long waiting lists were reported (mean 3 mo, range 1–12 mo), depending on type of specialist care and place of residence. Although diagnostic and therapeutic services were available, access within countries/regions were unevenly distributed, with children receiving better care than adults. Most experts reported a lack of transition services, although improvement is expected (62 % of responses). Hip and malnutrition surveillance, as well as educational and recreational activities were variably available. Public transportation, accessible roads and pavements, and urban green spaces for persons with disabilities were more available in larger cities. Overall, only 57 % of responders felt that most patients had adequate access to healthcare.</p></div><div><h3>Conclusion</h3><p>The survey of CP experts’ perspectives from the majority of European countries indicates discrepancies in the availability and accessibility of healthcare needed by people with CP and nonuniform implementation of policies across Europe.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"52 ","pages":"Pages 20-28"},"PeriodicalIF":2.3,"publicationDate":"2024-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141396912","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":"2024 update: European consensus statement on gene therapy for spinal muscular atrophy","authors":"Janbernd Kirschner ,&nbsp;Günther Bernert ,&nbsp;Nina Butoianu ,&nbsp;Liesbeth De Waele ,&nbsp;Aviva Fattal-Valevski ,&nbsp;Jana Haberlova ,&nbsp;Teresa Moreno ,&nbsp;Andrea Klein ,&nbsp;Anna Kostera-Pruszczyk ,&nbsp;Eugenio Mercuri ,&nbsp;Susana Quijano-Roy ,&nbsp;Thomas Sejersen ,&nbsp;Eduardo F. Tizzano ,&nbsp;W Ludo van der Pol ,&nbsp;Sean Wallace ,&nbsp;Dimitrios Zafeiriou ,&nbsp;Andreas Ziegler ,&nbsp;Francesco Muntoni ,&nbsp;Laurent Servais","doi":"10.1016/j.ejpn.2024.06.001","DOIUrl":"https://doi.org/10.1016/j.ejpn.2024.06.001","url":null,"abstract":"<div><p>Spinal muscular atrophy (SMA) is one of the most common genetic diseases and was, until recently, a leading genetic cause of infant mortality. Three disease-modifying treatments have dramatically changed the disease trajectories and outcome for severely affected infants (SMA type 1), especially when initiated in the presymptomatic phase. One of these treatments is the adeno-associated viral vector 9 (AAV9) based gene therapy onasemnogene abeparvovec (Zolgensma®), which is delivered systemically and has been approved by the European Medicine Agency for SMA patients with up to three copies of the <em>SMN2</em> gene or with the clinical presentation of SMA type 1. While this broad indication provides flexibility in patient selection, it also raises concerns about the risk-benefit ratio for patients with limited or no evidence supporting treatment.</p><p>In 2020, we convened a European neuromuscular expert working group to support the rational use of onasemnogene abeparvovec, employing a modified Delphi methodology. After three years, we have assembled a similar yet larger group of European experts who assessed the emerging evidence of onasemnogene abeparvovec's role in treating older and heavier SMA patients, integrating insights from recent clinical trials and real-world evidence. This effort resulted in 12 consensus statements, with strong consensus achieved on 9 and consensus on the remaining 3, reflecting the evolving role of onasemnogene abeparvovec in treating SMA.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Pages 73-78"},"PeriodicalIF":3.1,"publicationDate":"2024-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1090379824000874/pdfft?md5=af24e740e502fe36b6c74c7673bc8b7d&pid=1-s2.0-S1090379824000874-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141323185","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":"Diagnostic accuracy is required when analysing cohorts with mitochondrial disorders","authors":"Josef Finsterer","doi":"10.1016/j.ejpn.2024.05.017","DOIUrl":"https://doi.org/10.1016/j.ejpn.2024.05.017","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Pages 71-72"},"PeriodicalIF":3.1,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141298189","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}