European Journal of Paediatric Neurology最新文献

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Perspectives of cerebral palsy experts on access to health care in Europe 大脑性麻痹专家对欧洲医疗保健机会的看法
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2024-06-15 DOI: 10.1016/j.ejpn.2024.06.002
Antigone Papavasiliou , Sandra Julsen Hollung , Daniel Virella , Malika Delobel- Ayoub , Katalin Hollódy , David Neubauer , Anja Troha Gergeli , Catherine Arnaud
{"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}
引用次数: 0
2024 update: European consensus statement on gene therapy for spinal muscular atrophy 2024 年更新:欧洲脊髓性肌萎缩症基因疗法共识声明
IF 3.1 3区 医学
European Journal of Paediatric Neurology Pub Date : 2024-06-08 DOI: 10.1016/j.ejpn.2024.06.001
Janbernd Kirschner , Günther Bernert , Nina Butoianu , Liesbeth De Waele , Aviva Fattal-Valevski , Jana Haberlova , Teresa Moreno , Andrea Klein , Anna Kostera-Pruszczyk , Eugenio Mercuri , Susana Quijano-Roy , Thomas Sejersen , Eduardo F. Tizzano , W Ludo van der Pol , Sean Wallace , Dimitrios Zafeiriou , Andreas Ziegler , Francesco Muntoni , Laurent Servais
{"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}
引用次数: 0
Diagnostic accuracy is required when analysing cohorts with mitochondrial disorders 分析线粒体疾病队列时需要诊断准确性
IF 3.1 3区 医学
European Journal of Paediatric Neurology Pub Date : 2024-06-06 DOI: 10.1016/j.ejpn.2024.05.017
Josef Finsterer
{"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}
引用次数: 0
Distinct attentional and executive profiles in neurofibromatosis type 1: Is there difference with primary attention deficit-hyperactivity disorder? 神经纤维瘤病 1 型的注意和执行特征与原发性注意缺陷多动障碍有区别吗?
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2024-06-01 DOI: 10.1016/j.ejpn.2024.05.016
Laura Routier , Laurent Querné , Cécile Fontaine , Patrick Berquin , Anne-Gaëlle Le Moing
{"title":"Distinct attentional and executive profiles in neurofibromatosis type 1: Is there difference with primary attention deficit-hyperactivity disorder?","authors":"Laura Routier ,&nbsp;Laurent Querné ,&nbsp;Cécile Fontaine ,&nbsp;Patrick Berquin ,&nbsp;Anne-Gaëlle Le Moing","doi":"10.1016/j.ejpn.2024.05.016","DOIUrl":"10.1016/j.ejpn.2024.05.016","url":null,"abstract":"<div><h3>Purpose</h3><p>Attentional and executive dysfunctions are the most frequent cognitive disorders in neurofibromatosis type 1 (NF1), with a high prevalence of attention deficit-hyperactivity disorder (ADHD). We (i) compared attentional profiles between NF1 children with and without ADHD and children with primary ADHD criteria and (ii) investigated the possible relationship between attentional disorders and “unidentified bright objects” (UBOs) in NF1.</p></div><div><h3>Methods</h3><p>This retrospective study included 47 NF1 children, 25 with ADHD criteria (NF1+adhd group), matched for age, sex, and cognitive level with 47 children with primary ADHD (ADHD group). We collected computer task (sustained-attention, visuomotor-decision, inhibition, and cognitive-flexibility tasks) scores normalized for age and sex, and brain magnetic resonance imaging data.</p></div><div><h3>Results</h3><p>(i) Working memory was impaired in all groups. (ii) Omissions (<em>p</em> &lt; 0.002) and response-time variability (<em>p</em> &lt; 0.05) in sustained-attention and visuomotor-decision tasks and errors (<em>p</em> &lt; 0.02) in the cognitive-flexibility task were lower for the NFI+adhd and ADHD groups than for the NF1-no-adhd group. (iii) The NF1+adhd group had slower response times (<em>p</em> ≤ 0.02) for inhibition and visuomotor-decision tasks than the other groups. (iv) We found no relevant association between cognitive performance and UBOs.</p></div><div><h3>Conclusions</h3><p>NF1 children with ADHD have an attentional and executive functions deficit profile similar to that of children with primary ADHD, but with a slower response-time, increasing learning difficulties. The atypical connectivity of fronto-striatal pathways, poorer dopamine homeostasis, and increased GABA inhibition observed in NF1 renders vulnerable the development of the widely distributed neural networks that support attentional, working-memory, and executive functions.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Pages 93-99"},"PeriodicalIF":2.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141280221","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}
引用次数: 0
Current approach to cerebral palsy 目前治疗脑瘫的方法。
IF 3.1 3区 医学
European Journal of Paediatric Neurology Pub Date : 2024-05-31 DOI: 10.1016/j.ejpn.2024.05.015
Anna Saranti , Pinelopi Dragoumi , Antigone Papavasiliou , Dimitrios Zafeiriou
{"title":"Current approach to cerebral palsy","authors":"Anna Saranti ,&nbsp;Pinelopi Dragoumi ,&nbsp;Antigone Papavasiliou ,&nbsp;Dimitrios Zafeiriou","doi":"10.1016/j.ejpn.2024.05.015","DOIUrl":"10.1016/j.ejpn.2024.05.015","url":null,"abstract":"<div><p>This teaching review aims to provide an overview of the current approach to children with cerebral palsy (CP), retrieving the best available evidence and summarizing existing knowledge in the field of CP in children. We also highlight areas where more research is needed and novel strategies for diagnosing and treating cerebral palsy. CP includes a group of permanent disorders of movement and posture that cause activity limitation. Multiple risk factors, occurring preconceptionally, prenatally, perinatally, or postneonatally, are involved in the pathogenesis of CP, with the prenatal ones accounting for 80–90 % of cases. Due to its heterogeneity, CP has various classifications, but usually is classified based on clinical findings and motor impairment. Standardized function classification systems have been developed to address inconsistencies in previous classifications. The combination of clinical assessment and validated predictive tools is recommended for an early diagnosis, which is important for early intervention and prevention of secondary impairments. The therapeutic regimen in CP involves prevention and management of the motor and associated problems. It includes the enhancement of motor performance, the enrichment of cognition and communication skills, the prevention of secondary impairments, and the support of parents and caregivers. The care of CP children demands a multidisciplinary approach focused on improving motor skills, reducing comorbidities, enhancing the quality of life, and prolonging survival.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Pages 49-57"},"PeriodicalIF":3.1,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141201011","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}
引用次数: 0
GLUT1DS focus on dysarthria GLUT1DS 聚焦构音障碍
IF 3.1 3区 医学
European Journal of Paediatric Neurology Pub Date : 2024-05-29 DOI: 10.1016/j.ejpn.2024.05.010
Miriam Corradini , Martina Paola Zanaboni , Costanza Varesio , Massimiliano Celario , Elena Capelli , Carla Giudice , Carlo Alberto Quaranta , Martina Maria Mensi , Ludovica Pasca , Valentina De Giorgis
{"title":"GLUT1DS focus on dysarthria","authors":"Miriam Corradini ,&nbsp;Martina Paola Zanaboni ,&nbsp;Costanza Varesio ,&nbsp;Massimiliano Celario ,&nbsp;Elena Capelli ,&nbsp;Carla Giudice ,&nbsp;Carlo Alberto Quaranta ,&nbsp;Martina Maria Mensi ,&nbsp;Ludovica Pasca ,&nbsp;Valentina De Giorgis","doi":"10.1016/j.ejpn.2024.05.010","DOIUrl":"https://doi.org/10.1016/j.ejpn.2024.05.010","url":null,"abstract":"<div><h3>Research purpose</h3><p>GLUT1 deficiency syndrome (GLUT1DS) is a rare genetic disorder caused by a mutation in the SLC2A1 gene that limits the transport of glucose across the blood-brain barrier. Speech disorders and dysarthria are typical findings in patients with GLUT1DS, but have never been deeply phenotyped. The aim of the present study was to characterize speech abilities in a sample of patients with GLUT1DS.</p></div><div><h3>Results</h3><p>30 patients with GLUT1DS were recruited. We reported impairments in different speech and oromotor domains: the speech was characterized by dysarthria, inaccurate articulation of consonants, abnormal nasal resonance, errors in intonation and prosody and low intelligibility. We observed difficulties in motor planning and programming. Moreover, we observed a significant difference between the dysarthric level of impairment with genotype groups.</p></div><div><h3>Conclusions</h3><p>The presence of a speech disorder in patients with GLUT1DS represents a core feature of the syndrome. Our findings suggest that patients with GLUT1DS would benefit from a comprehensive neurocognitive assessment to detect strengths and weaknesses of the speech profile. Understanding the speech and language phenotype in GLUT1DS is critical for planning early intervention to positively influence the global development of patients with GLUT1DS.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Pages 62-70"},"PeriodicalIF":3.1,"publicationDate":"2024-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141290414","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}
引用次数: 0
Frequency and clinical relevance of MOG-antibodies in CSF in pediatric patients with MOG antibody-associated diseases MOG 抗体相关疾病儿科患者脑脊液中 MOG 抗体的频率和临床意义
IF 3.1 3区 医学
European Journal of Paediatric Neurology Pub Date : 2024-05-28 DOI: 10.1016/j.ejpn.2024.05.011
G. Galati , J. Pique , P. Horellou , C. Leroy , M. Poinsot , R. Marignier , L. Giorgi , K. Deiva
{"title":"Frequency and clinical relevance of MOG-antibodies in CSF in pediatric patients with MOG antibody-associated diseases","authors":"G. Galati ,&nbsp;J. Pique ,&nbsp;P. Horellou ,&nbsp;C. Leroy ,&nbsp;M. Poinsot ,&nbsp;R. Marignier ,&nbsp;L. Giorgi ,&nbsp;K. Deiva","doi":"10.1016/j.ejpn.2024.05.011","DOIUrl":"https://doi.org/10.1016/j.ejpn.2024.05.011","url":null,"abstract":"<div><h3>Objective</h3><p>This retrospective study aimed to describe a cohort of 38 pediatric patients with MOGAD and to investigate the clinical differences between patients with CSF-negativity and CSF-positivity for MOG-abs.</p></div><div><h3>Methods</h3><p>The clinical and laboratory characteristics of pediatric patients with MOGAD were retrospectively studied. Demographics, clinical characteristics, CSF analysis, treatments and prognosis of patients were recorded. All patients’ serums and CSF were tested for MOG-IgG by live cell-based assays (CBA). The data were statistically analysed.</p></div><div><h3>Results</h3><p>A total of 38 pediatric MOGAD patients were enrolled in the study, including 22 (57.9 %) females and 16 male (42.1 %) with a mean age of 8.4 ± 4.0 years at disease onset. Twenty-seven (71.7 %) patients were CSF-positive for MOG-abs while 11 (28.9 %) patients were CSF-negative for MOG-abs. The median follow-up was 25.5 months (IQR 5.5–73.25). Seventeen (44.7 %) patients presented a relapsing disease course, and the majority of these patients was CSF positive with a significant difference between the two groups (p = 0.038) in terms of recurrent diseases. CSF-positive patients presented more often an increased white cell count (p = 0.043), and in this cohort clinical phenotypes with spinal involvement were more frequent while encephalitis-like phenotypes were more frequent in the CSF negative cohort (p = 0.019).</p></div><div><h3>Conclusions</h3><p>CSF-status appears to identify two subgroups in this pediatric MOGAD population; thus, CSF-status requires further studies in pediatric patients with MOGAD.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Pages 79-83"},"PeriodicalIF":3.1,"publicationDate":"2024-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141328657","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}
引用次数: 0
Neurological involvement related to the influenza virus in children: A 5-year single-centre retrospective study 与流感病毒有关的儿童神经系统疾病:一项为期 5 年的单中心回顾性研究
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2024-05-28 DOI: 10.1016/j.ejpn.2024.05.012
Julie Savagner , Pauline Trémeaux , Eloïse Baudou , Jean Michel Mansuy , Emmanuel Cheuret
{"title":"Neurological involvement related to the influenza virus in children: A 5-year single-centre retrospective study","authors":"Julie Savagner ,&nbsp;Pauline Trémeaux ,&nbsp;Eloïse Baudou ,&nbsp;Jean Michel Mansuy ,&nbsp;Emmanuel Cheuret","doi":"10.1016/j.ejpn.2024.05.012","DOIUrl":"https://doi.org/10.1016/j.ejpn.2024.05.012","url":null,"abstract":"<div><h3>Introduction</h3><p>Inflammation related to influenza virus infection can lead to multiple neurological presentations. Encephalitis is one of them, mostly accompanied by seizures, with different profiles depending on the epidemics and previous medical conditions.</p></div><div><h3>Materials and methods</h3><p>All children presenting neurological symptoms and positive for influenza virus RNA detection in a respiratory sample between November 2018 and April 2023, hospitalized in the Department of Paediatric Neurology of Toulouse Children's Hospital, were retrospectively analysed.</p></div><div><h3>Results</h3><p>Among the 1,277 children diagnosed with influenza in our centre, 131 (10.3 %) were hospitalized for neurological features. The year 2020–2021 was marked by zero incidence of positive influenza tests, associated with the COVID-19 pandemic. Among the 131 patients included, 71.6 % were under 5 years old. Most of them (80.9 %) were infected by influenza A virus. The first neurological symptoms were mainly seizures in 73.3 % of patients. Possible or confirmed encephalitis was observed in 29 % of cases, including one acute necrotizing encephalopathy. Few children (6.1 %) presented with acute myositis. Twenty-seven patients (20.6 %) had a personal history of significant previous neurological disorders. Most patients (88.5 %) displayed a rapid favourable outcome, marked by the disappearance of their neurological symptoms within the first 2 days. Anti-epileptic drugs were introduced in 1.5 % of cases, and adapted in 16.8 %, mainly in patients with febrile status epilepticus and an abnormal EEG.</p></div><div><h3>Conclusion</h3><p>Neurological features were frequently associated with influenza infection in children; most were transient. Effects on long-term neurodevelopmental outcomes need to be clarified as our follow-up was limited, especially in children with pre-existing neurological conditions.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Pages 100-109"},"PeriodicalIF":2.3,"publicationDate":"2024-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1090379824000783/pdfft?md5=bf798fe7468816d7d49242a087c4bb6e&pid=1-s2.0-S1090379824000783-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141438424","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}
引用次数: 0
Cognitive, adaptive and perseverative aspects characterization of children with XLMTM: An explorative study XLMTM患儿的认知、适应和毅力特征:一项探索性研究。
IF 3.1 3区 医学
European Journal of Paediatric Neurology Pub Date : 2024-05-27 DOI: 10.1016/j.ejpn.2024.05.013
Francesca Cumbo , Michele Tosi , Irene Mizzoni , Michela Catteruccia , Adelina Carlesi , Enrico Bertini , Adele D'Amico
{"title":"Cognitive, adaptive and perseverative aspects characterization of children with XLMTM: An explorative study","authors":"Francesca Cumbo ,&nbsp;Michele Tosi ,&nbsp;Irene Mizzoni ,&nbsp;Michela Catteruccia ,&nbsp;Adelina Carlesi ,&nbsp;Enrico Bertini ,&nbsp;Adele D'Amico","doi":"10.1016/j.ejpn.2024.05.013","DOIUrl":"10.1016/j.ejpn.2024.05.013","url":null,"abstract":"<div><h3>Background</h3><p>X-Linked Myotubular Myopathy (XLMTM) is a severe congenital myopathy, potentially fatal within the first years. Patients present several complications and their cognitive development has never been explored deeply so far. An in-depth knowledge on the disease natural history, including the neurocognitive and adaptive profile, is essential in light of the promising new therapeutic perspectives.</p></div><div><h3>Methods</h3><p>We included all XLMTM patients seen in our clinical Unit between January 2021 and December 2023, irrespective to their disease's severity. Demographic and clinical data, including motor, respiratory and swallowing functions were collected. Patients were assessed with gold-standard international scales, according to their age and communication skills.</p></div><div><h3>Results</h3><p>We assessed nine patients in total, four with a severe phenotype, four with an intermediate phenotype and one with mild phenotype. The cognitive profile was within the lower limits or lower than the norm, with a global adaptive deficit for the majority of patients. A perseverative behavioural trait was also observed in some patients.</p></div><div><h3>Conclusion</h3><p>This study shows that XLMTM patients in the cohort had a neurodevelopmental profile within the lower limits of the norm, irrespective to the disease's severity, while the adaptive difficulties seems to be related to patients' global clinical impairment. Our observation would deserve a confirmation on a wider range of patients and we consider it essential for better defining the XLMTM phenotype, also considering the incoming promising therapeutic approaches.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Pages 58-61"},"PeriodicalIF":3.1,"publicationDate":"2024-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141201014","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}
引用次数: 0
The role of fidgety movements and early motor repertoire in predicting mobility outcomes in infants with myelomeningocele 焦躁不安的动作和早期运动能力在预测脊髓脊膜膨出症婴儿的活动能力结果中的作用
IF 3.1 3区 医学
European Journal of Paediatric Neurology Pub Date : 2024-05-20 DOI: 10.1016/j.ejpn.2024.05.006
Fabiana Utsch , Liliane Baía Silva , Antônio Lopes da Cunha Júnior , Elaine Pessoa Alves , Cinthia Ramos Diniz Silva , Daniele Moreira Ferreira Vilaça , Ana Amélia Moraes Antunes
{"title":"The role of fidgety movements and early motor repertoire in predicting mobility outcomes in infants with myelomeningocele","authors":"Fabiana Utsch ,&nbsp;Liliane Baía Silva ,&nbsp;Antônio Lopes da Cunha Júnior ,&nbsp;Elaine Pessoa Alves ,&nbsp;Cinthia Ramos Diniz Silva ,&nbsp;Daniele Moreira Ferreira Vilaça ,&nbsp;Ana Amélia Moraes Antunes","doi":"10.1016/j.ejpn.2024.05.006","DOIUrl":"https://doi.org/10.1016/j.ejpn.2024.05.006","url":null,"abstract":"<div><h3>Objective</h3><p>To describe fidgety movements and co-occurring movements and postures in infants with myelomeningocele (MMC) and their association with mobility at preschool ages.</p></div><div><h3>Methods</h3><p>A retrospective cohort with early assessment via general movement assessment, followed by mobility assessment between 36 and 70 months of age.</p></div><div><h3>Results</h3><p>Twelve infants were included; 12 of 12 had fidgety movements in the upper limbs, with seven exhibiting them also in the hips and three in both the hips and ankles. The presence of fidgety movements in the lower limbs, kicking, a non-flat posture, a non-monotonous movement character, and a non-absent age-adequate movement repertoire were independently associated with mobility using the Hoffer modified classification and functional mobility scale (FMS) at 5 and 50 m. An optimality score was calculated based on leg movements and postures, ranging from 0 to 10 points. Infants who scored at least 4 points achieved household ambulation and FMS (5 m) of at least level 4. Community ambulation and an FMS (50 m) of level 5 were achieved with a score of at least 7.5.</p></div><div><h3>Conclusions</h3><p>Assessing fidgety movements with other leg movements and postures in infants with MMC provided relevant information that could potentially predict mobility at preschool age and thus could be used for early intervention planning.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"51 ","pages":"Pages 41-48"},"PeriodicalIF":3.1,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141097325","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}
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