European Journal of Paediatric Neurology最新文献

{"title":"Newborn screening for neuro-metabolic disorders: Strategies, clinical benefits, and prerequisites for program expansion","authors":"Ulrike Mütze,&nbsp;Svenja Scharré,&nbsp;Elena Schnabel-Besson,&nbsp;Oya Kuseyri Hübschmann,&nbsp;Friederike Höster,&nbsp;Ali Tunҫ Tuncel,&nbsp;Stefan Kölker,&nbsp;Thomas Opladen","doi":"10.1016/j.ejpn.2025.03.017","DOIUrl":"10.1016/j.ejpn.2025.03.017","url":null,"abstract":"<div><div>Newborn screening (NBS) is a successful program of secondary prevention for rare diseases, such as neuro-metabolic diseases, enabling early identification of affected individuals and pre-symptomatic treatment. Driven by innovations in high-throughput sequencing technologies, NBS panels have continued to grow and will probably be extended further in the future. However, implementing NBS for a disease is subject to various preconditions to maximize the benefit for the affected children, while avoiding harm to the screened healthy cohort, their families and the society. Ideally, data on clinical long-term benefit of NBS and early treatment is collected prior to NBS implementation through long-term observational studies and registries. In addition, NBS should be implemented as an iteratively evaluated public health program and the data collection should be accompanied by intra-operable long-term observational studies, ideally extended in international cooperations. In this review, the current expertise in NBS, the screening strategies and possible long-term clinical benefits are presented and discussed for several neuro-metabolic diseases, including propionic acidemia and isolated methylmalonic acidemias, homocystinurias, remethylation defects, acquired cobalamin (vitamin B₁₂) deficiency, urea cycle disorders, tetrahydrobiopterin (BH₄) and primary neurotransmitter disorders, as well as lysosomal storage disorders. Given these prerequisites, several of the neuro-metabolic diseases discussed here might be part of future NBS programs worldwide.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 84-96"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143917448","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":"Disruptive lesions can cause developmental anomalies in the fetal brain: Mini-review","authors":"Michal Gafner ,&nbsp;Efrat Hadi ,&nbsp;Leila Haddad ,&nbsp;Liat Gindes ,&nbsp;William B Dobyns ,&nbsp;Tally Lerman-Sagie","doi":"10.1016/j.ejpn.2025.05.003","DOIUrl":"10.1016/j.ejpn.2025.05.003","url":null,"abstract":"<div><div>The development of the fetal central nervous system (CNS) is a complex process influenced by genetic, environmental, and physiological factors. The absence of identifiable genetic variants and low risk of recurrence in families with certain brain malformations has led to the hypothesis that disruptive events may play a critical role in the development of brain malformations. These events include disruption of blood flow, ischemia, hemorrhage, placental insufficiency, prenatal drug exposure (e.g cocaine), and infections (e.g CMV). Likely disruptive anomalies include polymicrogyria (PMG), cerebellar hypoplasia, septo-optic dysplasia (SOD), absent septum pellucidum, and Dandy-Walker malformation (DWM). The timing of these disruptions is expected to reflect the stages of fetal brain development. Understanding the mechanisms behind disruptive-developmental anomalies of the fetal CNS is crucial for improving prenatal screening, counseling strategies, and potential interventions.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 80-83"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143912341","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":"Education and participation in children and adolescents with Duchenne muscular dystrophy in Switzerland","authors":"Bettina C. Henzi ,&nbsp;Dominique Baumann ,&nbsp;Eleftheria Michalopoulou ,&nbsp;Sarah J. Erni ,&nbsp;Leonie Steiner ,&nbsp;Nadine Lötscher ,&nbsp;Anne Tscherter ,&nbsp;Andrea Klein","doi":"10.1016/j.ejpn.2025.03.010","DOIUrl":"10.1016/j.ejpn.2025.03.010","url":null,"abstract":"<div><div>Quality of life in Duchenne muscular dystrophy has been reported to be negatively affected by the lack of qualifying education and the lack of opportunities for participation in leisure activities. Two thirds of patients with Duchenne muscular dystrophy have cognitive and/or psychiatric problems. Thus, we conducted a survey study on mobility, school problems, executive functions, social participation and quality of life in young patients in Switzerland.</div><div>We contacted 60 male patients with Duchenne muscular dystrophy aged 8–18 years through the Swiss Registry for Neuromuscular Disorders. Mobility, school problems and social participation in leisure activities were assessed with a self-constructed questionnaire. Quality of life and executive function were assessed using KIDSCREEN-10 and BRIEF scores, respectively.</div><div>Out of 60 dispatched surveys, 67 % were filled out and included. Approximately half of the participants went to a special needs school, and 83 % rated their overall quality of life as good. We did not find a correlation between mobility and quality of life, whereas more social participation was correlated with higher quality of life. Furthermore, patients with more difficulties in executive functions showed less participation and lower quality of life.</div><div>These results underline the need for neuropsychological and adapted assistance in patients with Duchenne muscular dystrophy to facilitate education and social participation.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 107-114"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143928277","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 role of cardiovascular response as a predictor of neurologic disability in children with brain injury – a pilot study","authors":"Marta João Silva ,&nbsp;Hernâni Gonçalves ,&nbsp;Rute Almeida ,&nbsp;Claúdia Camila Dias ,&nbsp;Ana Isabel Almeida ,&nbsp;Ana Paula Rocha ,&nbsp;Cristina Granja ,&nbsp;Maria João Baptista ,&nbsp;Inês Azevedo","doi":"10.1016/j.ejpn.2025.04.009","DOIUrl":"10.1016/j.ejpn.2025.04.009","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Objective&lt;/h3&gt;&lt;div&gt;We aimed to assess medium-to long-term neurological outcomes in children with severe acute brain injury (ABI) and to identify cardiovascular predictors associated with unfavorable outcomes, such as heart rate (HR), blood pressure (BP), and heart rate variability (HRV). HRV refers to the oscillations in the intervals between consecutive heartbeats, reflecting the dynamic interplay between sympathetic and parasympathetic impulses to the heart. It provides a non-invasive indicator of autonomic nervous system (ANS) activity.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Design&lt;/h3&gt;&lt;div&gt;Prospective observational cohort.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Setting&lt;/h3&gt;&lt;div&gt;Tertiary academic pediatric intensive care unit (PICU).&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Patients&lt;/h3&gt;&lt;div&gt;Children &gt;27 days and &lt;18 years old admitted to the PICU after severe ABI who survived to PICU discharge. Children suspected of being brain dead at PICU admission or with cardiac arrythmias were excluded.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Interventions&lt;/h3&gt;&lt;div&gt;None.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Measure&lt;/h3&gt;&lt;div&gt;ments: Physiological variables, neurological data, chemistry and hematologic tests and medication were collected within the initial 12 h following admission to the PICU. Linear and nonlinear indices of HRV obtained from electrocardiogram (ECG) Holter recordings, computerized tomography (CT) and PICU scores, as well as survival rates within the PICU, were evaluated. The primary outcome measure was global functional outcome as measured by the Pediatrics Glasgow Outcome Scale Extended (GOSE-Peds) at 3 and 12 months after injury. These data were taken by reviewing the medical records. The outcome was dichotomized into favorable and unfavorable based on predefined cutoffs. None to mild disability (GOSE-E PEDS category ≤2) was categorized as favorable outcome, whereas moderate to severe disability was categorized as unfavorable (GOSE-E PEDS category ≥3).&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Main results&lt;/h3&gt;&lt;div&gt;Thirty-one children with ABI were eligible for the study. Twenty-four were male (77.4 %) and they had the median age of 11.3 years old (IQR 5.6–14.3). Twenty-two (71.0 %) patients had traumatic brain injury (TBI) and five (16.1 %) cerebral hemorrhage. Sixteen children (51.6 %) had a favorable outcome at 3 months and twenty-one (67.7 %) at 12 months. The presence of tachycardia or bradycardia was not related to the prognosis. Patients with systolic arterial blood pressure (SBP) above the 95th percentile in the first 12 h after admission to the PICU exhibited a significantly better neurological outcome [15 (68.2 %) vs. 9 (31.8 %), p = 0.006] at 3 months, and [20 (83.3 %) vs. 4 (16.7 %), p = 0.002] at 12 months. Calculated HRV values were higher, both on admission and 12 h after admission, in patients with a favorable prognosis at 3 and 12 months. However, these results were statistically significant only for RMSSD, LF, TP, and &lt;em&gt;Poincaré&lt;/em&gt; SD1 and SD2 at 12 h after admission and for outcomes at 3 months. Patients with LF &gt;","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 38-45"},"PeriodicalIF":2.3,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143868137","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":"Treatment of leukodystrophies: Advances and challenges","authors":"Nicole I. Wolf ,&nbsp;Marjo S. van der Knaap ,&nbsp;Marc Engelen","doi":"10.1016/j.ejpn.2025.03.016","DOIUrl":"10.1016/j.ejpn.2025.03.016","url":null,"abstract":"<div><div>Leukodystrophies, a group of genetic disorders primarily affecting brain white matter, were once considered untreatable. Advances in MRI and genetic diagnostics now allow most patients to receive a genetic diagnosis, and emerging treatments are shifting the field from therapeutic nihilism to cautious optimism. Allogenic haematopoietic stem cell transplantation (HSCT), used since the 1980s, has shown efficacy in specific leukodystrophies, such as adrenoleukodystrophy and metachromatic leukodystrophy, when administered early. Gene therapy has become a viable option, with ex vivo approaches like atidarsagene autotemcel providing promising outcomes for early-onset MLD. Trials for gene replacement and antisense oligonucleotide therapies are ongoing for several leukodystrophies, including Canavan disease and Alexander disease. Certain treatments, such as guanabenz for Vanishing White Matter, target disease-specific dysregulated molecular pathways. Despite these advances, challenges remain, including the ultrarare nature of most leukodystrophies, limited natural history data, high treatment costs, and barriers to accessibility. Future developments, including newborn screening and close international collaboration, aim to enhance early diagnosis, refine treatment timing, and expand access to innovative therapies.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 46-50"},"PeriodicalIF":2.3,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143865018","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":"From childhood to adulthood: Long-term assessment of continuous intrathecal baclofen therapy in non-ambulant spastic cerebral palsy","authors":"B.H.M. Martens ,&nbsp;M. Iskander ,&nbsp;D.L. Soudant ,&nbsp;G.F. Vles ,&nbsp;L.A. Bonouvrié ,&nbsp;O.P.M. Teernstra ,&nbsp;J.S.H. Vles ,&nbsp;R.J. Vermeulen","doi":"10.1016/j.ejpn.2025.04.002","DOIUrl":"10.1016/j.ejpn.2025.04.002","url":null,"abstract":"<div><h3>Background</h3><div>knowledge about lasting effects of continuous intrathecal baclofen (CITB) therapy during development into adulthood in non-ambulant individuals with cerebral palsy (CP) is limited.</div></div><div><h3>Aim</h3><div>we assessed individual goals including ease of care, pain reduction, at long term. Also, we aimed to gauge burden of CITB through hospitalization rates, orthopedic surgeries, pump-related complications, pump refills, and satisfaction levels among individuals and caregivers.</div></div><div><h3>Methods</h3><div>a prospective cohort of 17 individuals with CP (pump implantation 2002–2005) was assessed in 2022. Visual Analogue Scale (VAS) scores, Child Health Questionnaire Parent Form-50 (CHQ-PF50), and a Likert-scale questionnaire, were employed. Data was gathered through interviews with individuals or caregivers.</div></div><div><h3>Results</h3><div>fifteen individuals were alive at initial follow-up (mean age 31.8 years). Statistically significant improvements in VAS scores for individual goals, ease of care, and pain observed six months post-therapy initiation persisted into adulthood. Mental health and change in health decreased back to baseline at long-term follow-up, other domains of quality in life did not differ significantly. Treatment-related hospital admission was one per 3.6 years, of which 13.2 % were due to complications. The number of patients with scoliosis increased during the years. Despite, the majority (80 %) expressed continued preference for CITB treatment.</div></div><div><h3>Conclusion</h3><div>improvements of CITB on domains of body function, activities and social participation, and quality of life persist into adulthood. Although there are some side effects of CITB therapy, both patients and their caregivers report high satisfaction.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 17-23"},"PeriodicalIF":2.3,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143834406","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":"Update on inherited disorders of GABA metabolism","authors":"Itay Tokatly Latzer ,&nbsp;Phillip L. Pearl","doi":"10.1016/j.ejpn.2025.03.015","DOIUrl":"10.1016/j.ejpn.2025.03.015","url":null,"abstract":"<div><div>γ-aminobutyric acid (GABA) serves as the main inhibitory cortical neurotransmitter and is involved in crucial functions of neural circuitry affecting cognition, communication, movement, behavior, and the seizure threshold. GABAergic neurons and interneurons contribute to essential aspects of cortical dynamic organization and regulatory processes and mediate aspects of synaptic development. Inherited metabolic disorders affecting the metabolic pathways of GABA, its transport, and its receptors lead to a wide array of neurodevelopmental manifestations. Presentation typically ensues at early ages but could occur later in life and range in severity. This group of disorders warrants increased suspicion, as their early identification and management may lead to clinical improvement and shorten the diagnostic odyssey often associated with affected individuals. We provide an overview of the scientific basis, clinical presentation, and ongoing therapeutic advances of the main disorders of GABA metabolism stemming from deficiencies of succinic semialdehyde dehydrogenase (SSADH), GABA-transaminase, GABA transporter, and GABA receptor subunits.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 10-16"},"PeriodicalIF":2.3,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143834407","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":"Delayed diagnosis in pediatric-onset aquaporin-4 positive neuromyelitis optica spectrum disorder with isolated area postrema syndrome","authors":"Quinton Mandle ,&nbsp;Linda Nguyen ,&nbsp;Paul S. Horn ,&nbsp;Yolanda S. Wheeler ,&nbsp;Helen Wu ,&nbsp;Kelsey E. Poisson","doi":"10.1016/j.ejpn.2025.04.005","DOIUrl":"10.1016/j.ejpn.2025.04.005","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 6-9"},"PeriodicalIF":2.3,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143824501","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":"Towards new perspectives: International consensus guidance on dystonia in pediatric palliative care","authors":"Anna Mercante ,&nbsp;Nardo Nardocci ,&nbsp;Emilio Fernández-Alvarez ,&nbsp;Daniel E. Lumsden ,&nbsp;Julie Hauer ,&nbsp;Mercedes Bernadá ,&nbsp;Ross Drake ,&nbsp;Ulrika Kreicbergs ,&nbsp;Rocío Palomo-Carrión ,&nbsp;Marco Gemma ,&nbsp;Philippe Coubes ,&nbsp;Alfonso Fasano ,&nbsp;Jean-Pierre Lin ,&nbsp;Franca Benini ,&nbsp;Pediatric Dystonia and Palliative Care Group and the European Paediatric Neurology Society (EPNS)","doi":"10.1016/j.ejpn.2025.04.003","DOIUrl":"10.1016/j.ejpn.2025.04.003","url":null,"abstract":"<div><h3>Background</h3><div>Pediatric dystonias are associated with a broad spectrum of etiologies, resulting in a heterogeneous patient population in whom clinical presentation, evolution, and therapeutic needs may differ. These neurological symptoms are particularly common in children and adolescents with life-limiting and life-threatening conditions requiring pediatric palliative care (PPC). The impact on the child's quality of life is significant, as is distress for caregivers. Addressing and alleviating dystonia is key to providing good palliative care; however, there is limited evidence. A greater recognition and management of dystonia in this setting is urgently needed to provide appropriate interventions and care.</div></div><div><h3>Objectives</h3><div>To develop a standardized approach to dystonia in PPC.</div></div><div><h3>Materials and methods</h3><div>A two-round Delphi process explored the views of experts on the definition, assessment, monitoring, and treatment of dystonia in PPC. Professionals from different backgrounds and disciplines were invited worldwide. The final panel comprised 71 participants who completed a multi-statement online questionnaire.</div></div><div><h3>Results</h3><div>Fifty-three items were endorsed, providing expert, consensus-based recommendations.</div></div><div><h3>Conclusions</h3><div>The limited clinical knowledge of childhood dystonia represents a challenge, especially in children with palliative care needs. This study is a first international consensus on dystonia in PPC and offers novel approaches to improving the dystonia-related burden and advancing clinical practice in this vulnerable population.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 24-37"},"PeriodicalIF":2.3,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143858304","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":"Reduced elbow muscle strength in children and adolescents with Charcot-Marie-Tooth disease: a case control study","authors":"Camila Scarpino Barboza Franco ,&nbsp;Noemi Biziaki Ansanello ,&nbsp;Karoliny Lisandra Teixeira Cruz ,&nbsp;Emanuela Juvenal Martins ,&nbsp;Tenysson Will de Lemos ,&nbsp;Cyntia Rogean de Jesus Alves ,&nbsp;Ana Claudia Mattiello-Sverzut","doi":"10.1016/j.ejpn.2025.03.014","DOIUrl":"10.1016/j.ejpn.2025.03.014","url":null,"abstract":"<div><h3>Background</h3><div>Charcot-Marie-Tooth disease type 1 (CMT1) is a prevalent inherited neuropathy characterized by progressive sensory and motor deficits affecting the peripheral nervous system. Although muscle weakness is commonly seen in the hands, weakness of more proximal muscles has been observed in adults. In childhood, the muscle strength of the upper limbs must be explored to understand the natural history of the disease.</div></div><div><h3>Objective</h3><div>This study assessed differences in the muscle strength of elbow flexors and extensors between typically developing children and adolescents (as controls) and those with CMT1 using isometric and isokinetic contractions.</div></div><div><h3>Method</h3><div>Eighteen children and adolescents with CMT1 participated and were matched with 36 controls in this case control study (1:2). The peak torque of elbow flexors (EFL) and extensors (EEX) was assessed using an isokinetic dynamometer through isometric and isokinetic contractions at a speed of 120°.s-¹. Descriptive, t-tests and ANOVA were used for the statistical analysis.</div></div><div><h3>Results</h3><div>The CMT group exhibited significantly lower peak torque values across all assessed muscles and contraction types compared to the control group (p ≤ 0.05). Additionally, the isokinetic peak torque comparing the values of the elbow flexors with elbow extensors showed a significant difference to the control group (p ≤ 0.05). The intra-group analysis considering types of contractions showed no statistical difference.</div></div><div><h3>Conclusion</h3><div>Children with CMT1 presented proximal weakness in the muscles of the upper limbs, not only in the distal hand muscles. Health professionals should pay attention to the assessment and rehabilitation procedures with the aim of contributing to quality of life in the subsequent stages of life.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 1-5"},"PeriodicalIF":2.3,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143800240","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}