European Journal of Paediatric Neurology最新文献

{"title":"Genotype variability in early-onset Hereditary Spastic Paraplegia: a single-center study","authors":"Vito Luigi Colona ,&nbsp;Lorena Travaglini ,&nbsp;Jacopo Sartorelli ,&nbsp;Gessica Vasco ,&nbsp;Anna Piluso ,&nbsp;Adele D'Amico ,&nbsp;Antonio Novelli ,&nbsp;Enrico Bertini ,&nbsp;Francesco Nicita","doi":"10.1016/j.ejpn.2025.06.001","DOIUrl":"10.1016/j.ejpn.2025.06.001","url":null,"abstract":"<div><div>Hereditary spastic paraplegias (HSPs) are genetically and clinically heterogeneous, slowly progressive neurological disorders characterized by primary involvement of the corticospinal tracts. The early-onset forms of HSP (EO-HSP) are often defined as “cerebral palsy mimics” since symptoms begin in infancy and manifest as spastic di- or tetraplegia and possible neurodevelopmental disorder. The rarity and heterogeneity of these disorders make their diagnosis challenging.</div><div>In this single-center study, we focus on the outcomes and diagnostic detection rate of EO-HSP patients from a cohort of 104 consecutive HSP cases.</div><div>The discussion highlights the genetic variability in cases of EO-HSP that tested positive through a series of molecular analyses, particularly those requiring further investigation via whole exome sequencing (WES). This approach has shed light on the etiopathogenetic role of 19 variants across 10 different genes (<em>COQ4</em>, <em>FOXG1</em>, <em>GRIN2B</em>, <em>HPDL</em>, <em>LRP2</em>, <em>RBMX</em>, <em>SPART</em>, <em>TBCD</em>, <em>ZBTB11</em>, and <em>ZC4H2</em>) in 14 patients with complex EO-HSP. Notably, most of these genes are not conventionally classified as HSP-related or included in the SPG classification on the Online Mendelian Inherited in Men (OMIM) catalog.</div><div>We emphasize the importance of detailed genotype-phenotype correlations and the diagnostic potential of a highly specialized translational approach in clinically selected cases lacking molecular confirmation, thereby expanding our understanding of the genetic variability of EO-HSP.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"57 ","pages":"Pages 82-90"},"PeriodicalIF":2.3,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144298205","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":"Neurological involvement in 51 cystinosis patients: A single-center experience","authors":"Ezgi Burgac ,&nbsp;Sonay Duran Yılmaz ,&nbsp;Fatma Derya Bulut ,&nbsp;Deniz Kor ,&nbsp;Esra Kara ,&nbsp;Burcu Köseci ,&nbsp;İrem Kaplan ,&nbsp;Gülşah Seydaoğlu ,&nbsp;Gülen Gül Mert ,&nbsp;Neslihan Önenli Mungan","doi":"10.1016/j.ejpn.2025.05.011","DOIUrl":"10.1016/j.ejpn.2025.05.011","url":null,"abstract":"<div><h3>Background</h3><div>Cystinosis is a lysosomal storage disease resulting from impaired transport of cystine due to variants in <em>CTNS</em> gene. Cystine accumulation leads to renal, corneal, and endocrine involvements. Patients typically present with growth retardation, polyuria/polydipsia, rickets. However, neurological manifestations are rare and become more pronounced with increasing age.</div></div><div><h3>Methods</h3><div>Fifty-one patients with cystinosis were evaluated using cerebral magnetic resonance imaging, electroneuromyography, audiological and psychometric tests.</div></div><div><h3>Results</h3><div>The mean age of the patients was 164.8 ± 112.4 months. The common symptoms were failure to thrive (56.9 %), polyuria/polydipsia (45.1 %), and short stature (37.3 %). Renal, endocrine, ocular, and neurological involvement was present in 100 %, 78.4 %, 76.5 %, and 49 % of patients, respectively. Abnormal magnetic resonance imaging findings were observed in three patients. Psychometric tests were performed in 20 patients. Four patients had borderline intelligence, two had mild, four had moderate, and two had severe intellectual disability. Eight patients had delays in personal-social, fine/gross motor, and language development. Two of 29 patients who underwent audiological evaluation were found to have hearing loss. Three patients had neuropathy, one had myopathy. One patient had epilepsy. There was no significant difference in cystine levels between the patients with and without neurological involvement.</div></div><div><h3>Discussion</h3><div>Compared to literature, our study appears to be a case series in which mental affect was reported the most. This effect may be due to frequent hospitalization, lack of stimulation, sociocultural status of the family and cortical atrophy in patients with chronic renal disease. Hearing loss was first reported in our study, regardless of audiotoxic drug usage.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"57 ","pages":"Pages 50-56"},"PeriodicalIF":2.3,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144204949","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":"Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy","authors":"Daphne H. Schoenmakers ,&nbsp;Marije A.B.C. Asbreuk ,&nbsp;Tamara Martin ,&nbsp;Mareen Datema ,&nbsp;Shanice Beerepoot ,&nbsp;Michal Inbar-Feigenberg ,&nbsp;Samuel Groeschel ,&nbsp;Christiane Kehrer ,&nbsp;Andreas Øberg ,&nbsp;Caroline Sevin ,&nbsp;Francesca Fumagalli ,&nbsp;Caroline G. Bergner ,&nbsp;Päivi Vieira ,&nbsp;Annette Bley ,&nbsp;Johanna Uusimaa ,&nbsp;Morten Andreas Horn ,&nbsp;Klára Brožová ,&nbsp;Eva Stögmann ,&nbsp;Herbert Pichler ,&nbsp;Roswitha Lüftinger ,&nbsp;Nicole I. Wolf","doi":"10.1016/j.ejpn.2025.05.012","DOIUrl":"10.1016/j.ejpn.2025.05.012","url":null,"abstract":"<div><h3>Background</h3><div>Treatment decisions in metachromatic leukodystrophy (MLD), a rare life-threatening neurological disease, are challenging. Hematopoietic stem cell transplantation or autologous stem-cell-based gene therapy can be life-changing but come with uncertainties, risks, and high costs. To address this, the international MLD treatment eligibility panel was established in collaboration with the European Reference Network on Rare Neurological Diseases. The panel reviews and discusses individual MLD cases and provides consensus-based recommendations on whether to treat and which treatment modality. The goal is to streamline international care and treatment counseling by providing uncomplicated access to expert opinion.</div></div><div><h3>Methods</h3><div>The panel operates according to a published standard operating procedure and was evaluated between September 2021–2024. Case data were recorded in a Castor EDC-based system and, with consent, included in the MLD Initiative (MLDi) patient registry. Physicians' experiences were assessed via EUsurvey, and patients’ feedback was collected through an MLDi registry survey.</div></div><div><h3>Findings</h3><div>The panel discussed 43 cases, recommending treatment in 20, abstaining in 19, and reaching no consensus in 4. Open questions regarding cognitive function and lack of outcome data caused challenges in treatment recommendations in late-onset MLD patients. All treatment recommendations were followed. Physicians reported positive experiences with the panel.</div></div><div><h3>Interpretation</h3><div>The MLD treatment eligibility panel demonstrates how international expert advice can be streamlined across Europe for a rare disease like MLD, where disease-specific guidelines are still in development. By balancing complex clinical, social, and ethical parameters, the panel aids in encouraging appropriate use of innovative and costly therapies and guarantees accessibility to expert advice irrespective of country of origin.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"57 ","pages":"Pages 72-81"},"PeriodicalIF":2.3,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144230185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gene therapy in neuronopathic lysosomal storage disorders","authors":"A. Donald ,&nbsp;C. Horgan ,&nbsp;M.J. De Castro Lopez ,&nbsp;S.A. Jones ,&nbsp;R.F. Wynn","doi":"10.1016/j.ejpn.2025.05.010","DOIUrl":"10.1016/j.ejpn.2025.05.010","url":null,"abstract":"<div><div>Lysosomal storage disorders are a group of multisystem monogenic conditions caused mostly by enzyme deficiencies which disrupt lysosomal functioning. Those which result in neuronal dysfunction are considered ‘neuronopathic’. These neurodegenerative conditions, while individually rare, are collectively not uncommon, and are attractive targets for gene and cell-based therapies. In this review we describe the current landscape of such therapies in this group of disorders, where the more severe phenotypes manifest in children. We describe the conditions, the principles of cell therapy and gene therapy, and compare AAV and lentiviral approaches. This is a rapidly evolving area of medicine, and we highlight progress made, and the challenges that are ahead in bringing these therapies to all patients. Throughout, we offer real-world insight into delivering these therapies and suggest a way forward for the future; utilising combined therapies to bridge the obligate delays and increasing collaborative working practices in therapeutic development between clinicians, academics and industry.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"57 ","pages":"Pages 41-49"},"PeriodicalIF":2.3,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144194595","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 utility of creatine kinase in status dystonicus and pre-status dystonicus","authors":"Daniel E. Lumsden ,&nbsp;Apostolos Papandreou ,&nbsp;Nicholas M. Allen ,&nbsp;Jean-Piere Lin","doi":"10.1016/j.ejpn.2025.05.013","DOIUrl":"10.1016/j.ejpn.2025.05.013","url":null,"abstract":"<div><h3>Background</h3><div>Individuals with dystonia may experience acute exacerbations of symptoms.</div></div><div><h3>Objectives</h3><div>We aimed to explore the role of serum creatinine kinase (CK) levels as a biomarker for dystonia severity during episodes of exacerbation.</div></div><div><h3>Methods</h3><div>A retrospective review of admissions to a paediatric tertiary centre due to Status Dystonicus over a 5-year period. A comprehensive scoping review of the published literature for SD and pre-SD was also undertaken.</div></div><div><h3>Results</h3><div>In total 58 admissions for 45 patients were identified. Dystonia Severity Action Plan (DSAP) was Grade 3 (pre-SD) for 41/58 admissions and Grade 4–5 (SD) for 17 admissions. Length of admission was significantly longer for SD (P &lt; 0.005), with poorer outcomes (Fishers Exact test P &lt; 0.001). CK levels were measured in 24/41 episodes of pre-SD, and 16/17 episodes of SD. Median peak CK levels were higher (729 IU/L) in the SD compared to pre-SD group (179.5 IU/L) (p = 0.009). For patients with SD, serial CK measurements tracked dystonia severity over time. Literature review identified 201 episodes of SD in 190 subjects. Note was made of CK measurement in 92/201 (45.8 %) episodes: pre-SD (DSAP 3) in 8 and SD in 84 [DSAP 4 (n = 30), and DSAP 5 (n = 54)] respectively, with a numerical value provided in in 73/90 episodes/cases. Median CK value was 4066 IU/L (884–22,105, 25th to 75th Centile). In the literature review, for 11 episodes serial CK measures were shown to correlate with severity of dystonic symptoms.</div></div><div><h3>Conclusions</h3><div>serum CK levels represent a potentially useful biomarker for dystonia severity that differs between pre-SD and SD, and provide a measure to track dystonia severity at an individual patient basis.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"57 ","pages":"Pages 57-63"},"PeriodicalIF":2.3,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144212522","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":"Clinical presentation, MR imaging and outcome in children with myelin oligodendrocyte glycoprotein antibody-negative acute disseminated encephalomyelitis","authors":"M. Panagi ,&nbsp;A. Blaschek ,&nbsp;A. Selek ,&nbsp;M. Baumann ,&nbsp;R. Cleaveland ,&nbsp;A. Panzer ,&nbsp;C. Conrad ,&nbsp;A. Della Marina ,&nbsp;K. Egler ,&nbsp;J. Finsterwalder ,&nbsp;T. Geis ,&nbsp;H. Hartmann ,&nbsp;M. Häusler ,&nbsp;P. Hofstetter ,&nbsp;M. Karenfort ,&nbsp;G. Kluger ,&nbsp;S. Leiz ,&nbsp;A. Merkenschlager ,&nbsp;M. Nosadini ,&nbsp;S. Sartori ,&nbsp;K. Rostasy","doi":"10.1016/j.ejpn.2025.05.009","DOIUrl":"10.1016/j.ejpn.2025.05.009","url":null,"abstract":"<div><h3>Background</h3><div>Acute disseminated encephalomyelitis (ADEM) without myelin oligodendrocyte glycoprotein (MOG) antibodies (abs) presents a diagnostic challenge.</div></div><div><h3>Objective</h3><div>To investigate whether the diagnosis of MOG-negative (neg) ADEM was confirmed over time and to highlight the clinical and neuroradiological characteristics distinguishing monophasic MOG-neg ADEM from alternative diagnoses.</div></div><div><h3>Material and methods</h3><div>Children diagnosed with a first clinical episode of MOG-neg ADEM and a dataset including clinical presentation, MRI, CSF studies and at least 3-month follow-up were included.</div></div><div><h3>Results</h3><div>47 children with MOG-neg ADEM were identified (m:f = 27:20 , median age 8.0 years. 38 (79.2 %) children maintained the initial diagnosis after a median follow-up of 34.2 months. In 9 (19.1 %) children an alternative diagnosis was assigned after a median follow-up of 4.2 months including multiple sclerosis (MS) n = 2; glioblastoma (GBM) n = 2; hemophagocytic lymphohistiocytosis (HLH) n = 2; CNS vasculitis n = 1; ADEM followed by optic neuritis (ADEMON) n = 2. Cerebral white matter lesions were identified in 84.2 % of MOG-neg ADEM children. Gadolinium enhancement was noted in 11.4 % of MOG-neg ADEM children. Of 38 MOG-neg ADEM children, 9 (23.7 %) had only one atypical MRI finding, whereas 23 (60.5 %) showed multiple atypical MRI features. All children with alternative diagnoses exhibited more than one atypical MRI feature. The outcome was favorable (mRS &lt;/ = 2) in 36/38 (94.7 %) children with MOG-neg ADEM</div></div><div><h3>Conclusion</h3><div>A substantial number of children initially diagnosed with MOG-neg ADEM will have another diagnosis. Children with MOG-neg ADEM showed white matter lesions but also atypical MRI findings. Monophasic MOG-neg ADEM was associated with a favorable outcome.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"57 ","pages":"Pages 24-34"},"PeriodicalIF":2.3,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144170513","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":"Acute seizures and the risk of post-stroke epilepsy in children with arterial ischemic stroke","authors":"Andrea Rüegger ,&nbsp;Eliane Pfister ,&nbsp;Regula Everts ,&nbsp;Tatia Aprasidze ,&nbsp;Arsany Hakim ,&nbsp;Gabriela Oesch ,&nbsp;Mária Regényi ,&nbsp;Maja Steinlin ,&nbsp;Iciar Sanchez-Albisua","doi":"10.1016/j.ejpn.2025.05.008","DOIUrl":"10.1016/j.ejpn.2025.05.008","url":null,"abstract":"<div><h3>Objectives</h3><div>This study aims to investigate the incidence, risk factors, and long-term outcomes of acute symptomatic seizures and post-stroke epilepsy in a cohort of children and adolescents who suffered from arterial ischemic stroke (AIS-C).</div></div><div><h3>Methods</h3><div>Children and adolescents (aged 29 days to 16 years) with AIS-C were prospectively enrolled in the population-based Swiss Neuropediatric Stroke Registry (SNPRS) between 2000 and 2020. Demographic data, clinical presentation, and seizure characteristics were documented. Follow-up evaluations were performed at six- and 24-months post-stroke to assess the development of epilepsy. Risk factors for acute seizures and post-stroke epilepsy were analysed using univariate regression models. Of 315 patients with AIS, 201 children were male (63.5 %), with a median age of 6.1 years (IQR: 2.1–11.4). Acute seizures were observed in 75 (23.8 %) children, being the initial symptom in 44/75 (58.7 %). Status epilepticus occurred in 12/75 (16.0 %). Acute symptomatic seizures were associated with younger age (median 1.1 years [IQR 0.4–6.0] vs 7.2 years [IQR 3.8–12.2]; p &lt; 0.001) and cortical involvement (OR 3.3; 95 % CI 1.8–6.0; p &lt; 0.001). At the 6-month follow-up, 12 patients (4.5 %) had developed active epilepsy and 12 patients (5.4 %) at 24 months. The presence of acute symptomatic seizures did not increase the risk for epilepsy at 6 months (OR 1.5; 95 % CI 0.5 to 5.1; p = 0.47) but was associated with a higher risk at 24 months (OR 3.2; 95 % CI 1.0 to 10.7; p = 0.047). The most common stroke aetiologies, classified using the Childhood AIS Standardized Classification and Diagnostic Evaluation (CASCADE) criteria, were cardioembolic (32.0 % in patients with acute seizures vs 18.4 % in those without) and unilateral focal cerebral arteriopathy (22.7 % vs 26.4 %). Stroke aetiology remained undetermined in 20.0 % vs 31.8 %. Drug-resistant epilepsy was reported in seven children (2.2 %) with severe comorbid conditions, such as congenital heart disease and sepsis. Children with post-stroke epilepsy experienced significantly worse neurological outcomes, as measured by the Pediatric Stroke Outcome Measure (PSOM), compared to children without post-stroke epilepsy (median PSOM score 3.0 vs. 0.5, p &lt; 0.001).</div></div><div><h3>Conclusions</h3><div>Acute symptomatic seizures are a common complication of paediatric ischemic stroke and are strongly associated with younger age and cortical involvement. Although these seizures do not predict early epilepsy development at 6 months, they are a risk factor for post-stroke epilepsy at 24 months. Children with post-stroke epilepsy show poorer neurological outcomes and those with severe underlying conditions are at an increased risk of drug-resistant epilepsy. These findings highlight the need for careful monitoring and early intervention in children with high-risk profiles.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"57 ","pages":"Pages 15-23"},"PeriodicalIF":2.3,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144139252","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 motor imagery adding to physiotherapy and rehabilitation program in children with Duchenne Muscular Dystrophy: does it make a difference?","authors":"Gülsena Utku Umut ,&nbsp;Arzu Razak Özdi̇nçler ,&nbsp;Fitnat Uluğ ,&nbsp;Serhat Güler ,&nbsp;Sema Saltık","doi":"10.1016/j.ejpn.2025.05.006","DOIUrl":"10.1016/j.ejpn.2025.05.006","url":null,"abstract":"<div><h3>Introduction/background</h3><div>The study aims to investigate the effects of the MI (Motor Imagery) program applied in addition to the PTR (Physiotherapy and Rehabilitation) program on gait and balance in children with DMD (Duchenne Muscular Dystrophy).</div></div><div><h3>Methods</h3><div>The 38 boys with DMD were included in the study and randomized into two groups: the PTR group (mean age: 7.96 ± 1.94 years) and the MI + PTR group (mean age: 9.03 ± 1.71 years). In the PTR group, the PTR program was administered 2 days/week for 8 weeks, and in the MI + PTR group, the MI program was administered 5 days/week in addition to the PTR program. Groups were assessed by the Brooke Lower Extremity Functional Classification Scale, Modified Pediatric Mini Mental Scale, Movement Imagery Questionnaire (MIQ-c), Kinovea® Software Program, Timed Up &amp; Go Test (TUG), Timed Function Tests (TFT), Two-Minute Walk Test (2MWT), and Motor Function Measure (MFM-32).</div></div><div><h3>Results</h3><div>As a result of the study, in PTR Group, TFT-Stairs descending (p = 0.049) was improved. In MI + PTR Group, Kinovea® Software Program-Walking Speed (p = 0.003), 2MWT (p = 0.037), TFT-Stair descend and 10-m walk (respectively; p = 0.001; p = 0.039), and MFM-32-D1 (p = 0.036) were improved. According to the comparison between groups, the groups were not superior to each other (p &gt; 0.05).</div></div><div><h3>Discussion/conclusion</h3><div>Although the MI program applied in addition to the PTR program contributes to improvements in walking speed, walking distance, and functional performance in children with DMD, it does not demonstrate superiority over the PTR program alone.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"57 ","pages":"Pages 64-71"},"PeriodicalIF":2.3,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144223223","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":"Is late diagnosis of Duchenne muscular dystrophy still a reality?","authors":"Michele Michelin Beckerq ,&nbsp;Juliana Gurgel-Giannetti ,&nbsp;Alexandra Prufer de Queiroz Campos Araujo ,&nbsp;Marcela Câmara Machado Costa ,&nbsp;Têmis Maria Félix ,&nbsp;Cláudia Fernandes Lorea ,&nbsp;Adriana Banzzatto Ortega ,&nbsp;Michelle Silva Zeny ,&nbsp;Thayne Woycinck Kowalski ,&nbsp;Pablo Brea Winckler ,&nbsp;Leonardo Simão Medeiros ,&nbsp;Clara Catharino Pinhati ,&nbsp;Ana Carolina Monteiro Lessa de Moura ,&nbsp;Jonas Alex Morales Saute ,&nbsp;Flávia Nardes","doi":"10.1016/j.ejpn.2025.05.004","DOIUrl":"10.1016/j.ejpn.2025.05.004","url":null,"abstract":"<div><div>Duchenne muscular dystrophy (DMD) is a progressive X-linked recessive neuromuscular disorder caused by pathogenic variants in the <em>DMD</em> gene manifesting in early childhood with progressive muscle weakness. First symptoms of muscle weakness usually appear around age of three, however, other signs of the disease like muscle hypertrophy, poor motor skills and social, language and motor delay can be detected earlier. Significant delays in the diagnostic process for DMD have been reported in many countries, with the diagnosis generally being made around five years. A collaborative historical cohort study was conducted to identify the age at diagnosis of DMD in five neuromuscular centers in Brazil, covering cases diagnosed between January 2019 and March 2024. In addition to data from the centers, data on age at diagnosis were obtained from The Brazilian National Network for Rare Diseases (RARAS). The final analytic cohort included 173 DMD individuals. The mean age at which patients were diagnosed with probable DMD based on clinical suspicion was 5.7 (±2.7) years, with diagnostic confirmation by genetic testing/muscle biopsy at 6.9 (±4.0) years, with medians of 6.0 and 6.8 years, respectively. The mean age at which parents noticed symptoms was 3.4 (±1.9) years with a median of 3.0 years. The most frequently observed initial symptoms by parents included frequent falls (35.5 %), gait abnormalities (31.4 %), difficulties in stair climbing (17.2 %), developmental delay (13.6 %), and difficulties in rising from the floor (8.9 %). The presence of co-occurring neurocognitive conditions was associated with a delay of 1.12 years (p = 0.008) in the median age at suspected diagnosis and 1.0 years in the median age at diagnosis confirmation (p = 0,022). These results suggest that while there have been improvements in the age of diagnosis of DMD in Brazil in recent decades, diagnosis still occurs later than ideal and then what has been achieved in high-income countries.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"57 ","pages":"Pages 35-40"},"PeriodicalIF":2.3,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144170514","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":"Quantitative assessment of muscle atrophy and structural changes in children with spinal muscular atrophy using ultrasound imaging","authors":"Yang Li ,&nbsp;Li Gao ,&nbsp;Meihuan Huang ,&nbsp;Yujuan Wang ,&nbsp;Jianguo Cao ,&nbsp;Feiqiu Wen ,&nbsp;Wenwu Xiao ,&nbsp;Qing Liu","doi":"10.1016/j.ejpn.2025.04.013","DOIUrl":"10.1016/j.ejpn.2025.04.013","url":null,"abstract":"<div><h3>Background:</h3><div>Spinal muscular atrophy (SMA) in children is a hereditary neuromuscular disorder characterized by motor neuron degeneration, which leads to progressive muscle weakness and impaired movement. Ultrasound imaging, owing to its non-invasive, radiation-free, and cost-effective nature, provides an invaluable tool for visualizing muscle morphology. This technique offers a significant advantage in the clinical evaluation of SMA. The aim of this study was to quantitatively assess muscle abnormalities in children with SMA using both conventional ultrasound and shear wave elastography (SWE), and to explore the potential of these imaging modalities in the assessment of the disease.</div></div><div><h3>Methods:</h3><div>A total of 20 patients with type II or III SMA, who had not received any prior disease-modifying treatment (DMT), were included in the SMA group. These patients were enrolled between May 2022 and January 2024. The control group comprised 20 healthy children matched for age and gender. Muscle thickness (MT) and shear wave velocity (SWV) of the biceps brachii (BB) and quadriceps femoris (QF) were measured using B-mode ultrasound and SWE. Ultrasound parameters were compared between children with SMA and healthy controls. Additionally, motor function in the SMA group was assessed using the Hammersmith Functional Motor Scale Expanded (HFMSE), and the correlation between ultrasound parameters and HFMSE scores was analyzed.</div></div><div><h3>Results:</h3><div>The BB-MT, BB-SWV, QF-MT and QF-SWV in the SMA group, were significantly lower than those in the control group (p = 0.030, 0.000, 0.004, and 0.001, respectively). Correlation analysis revealed a significant positive correlation between QF-MT and QF-SWV in the SMA group and the HFMSE score (r = 0.802, p = 0.000; r = 0.56, p = 0.000, respectively).</div></div><div><h3>Conclusions:</h3><div>Ultrasound imaging is an effective modality for detecting and quantifying muscle atrophy and structural changes in children with SMA. Moreover, it demonstrates a significant correlation with motor function, providing valuable insights into the clinical assessment of SMA.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"57 ","pages":"Pages 1-6"},"PeriodicalIF":2.3,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144083751","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}