Pub Date : 2025-07-01Epub Date: 2025-05-27DOI: 10.1016/j.ejpn.2025.05.013
Daniel E. Lumsden , Apostolos Papandreou , Nicholas M. Allen , Jean-Piere Lin
Background
Individuals with dystonia may experience acute exacerbations of symptoms.
Objectives
We aimed to explore the role of serum creatinine kinase (CK) levels as a biomarker for dystonia severity during episodes of exacerbation.
Methods
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.
Results
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 < 0.005), with poorer outcomes (Fishers Exact test P < 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.
Conclusions
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.
{"title":"The utility of creatine kinase in status dystonicus and pre-status dystonicus","authors":"Daniel E. Lumsden , Apostolos Papandreou , Nicholas M. Allen , 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 < 0.005), with poorer outcomes (Fishers Exact test P < 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":"2025-07-01","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}
Pub Date : 2025-07-01Epub Date: 2025-05-10DOI: 10.1016/j.ejpn.2025.05.004
Michele Michelin Beckerq , Juliana Gurgel-Giannetti , Alexandra Prufer de Queiroz Campos Araujo , Marcela Câmara Machado Costa , Têmis Maria Félix , Cláudia Fernandes Lorea , Adriana Banzzatto Ortega , Michelle Silva Zeny , Thayne Woycinck Kowalski , Pablo Brea Winckler , Leonardo Simão Medeiros , Clara Catharino Pinhati , Ana Carolina Monteiro Lessa de Moura , Jonas Alex Morales Saute , Flávia Nardes
Duchenne muscular dystrophy (DMD) is a progressive X-linked recessive neuromuscular disorder caused by pathogenic variants in the DMD 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.
{"title":"Is late diagnosis of Duchenne muscular dystrophy still a reality?","authors":"Michele Michelin Beckerq , Juliana Gurgel-Giannetti , Alexandra Prufer de Queiroz Campos Araujo , Marcela Câmara Machado Costa , Têmis Maria Félix , Cláudia Fernandes Lorea , Adriana Banzzatto Ortega , Michelle Silva Zeny , Thayne Woycinck Kowalski , Pablo Brea Winckler , Leonardo Simão Medeiros , Clara Catharino Pinhati , Ana Carolina Monteiro Lessa de Moura , Jonas Alex Morales Saute , 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":"2025-07-01","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}
Pub Date : 2025-07-01Epub Date: 2025-05-21DOI: 10.1016/j.ejpn.2025.05.008
Andrea Rüegger , Eliane Pfister , Regula Everts , Tatia Aprasidze , Arsany Hakim , Gabriela Oesch , Mária Regényi , Maja Steinlin , Iciar Sanchez-Albisua
Objectives
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).
Methods
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 < 0.001) and cortical involvement (OR 3.3; 95 % CI 1.8–6.0; p < 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 < 0.001).
Conclusions
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.
目的本研究旨在探讨儿童和青少年动脉缺血性卒中（AIS-C）急性症状性发作和卒中后癫痫的发生率、危险因素和长期结局。方法在2000年至2020年期间，前瞻性纳入以人群为基础的瑞士小儿神经卒中登记处（SNPRS）的AIS-C儿童和青少年（29天至16岁）。记录了人口统计资料、临床表现和癫痫发作特征。在中风后6个月和24个月进行随访评估，以评估癫痫的发展情况。采用单变量回归模型分析急性发作和卒中后癫痫的危险因素。315例AIS患者中，201例儿童为男性（63.5%），中位年龄6.1岁（IQR: 2.1-11.4）。75例（23.8%）患儿出现急性发作，44/75例（58.7%）患儿出现首发症状。癫痫持续状态发生率为12/75（16.0%）。急性症状性癫痫发作与年龄较小相关(中位年龄1.1岁[IQR 0.4-6.0] vs中位年龄7.2岁[IQR 3.8-12.2]；p & lt;0.001)和皮层受累(OR 3.3；95% ci 1.8-6.0；p & lt;0.001)。在6个月的随访中，12名患者（4.5%）发生了活动性癫痫，24个月时，12名患者（5.4%）发生了活动性癫痫。急性症状性癫痫发作的存在不会增加6个月时癫痫的风险(OR 1.5；95% CI 0.5 ~ 5.1；p = 0.47)，但与24个月时较高的风险相关(OR 3.2；95% CI 1.0 ~ 10.7；p = 0.047)。根据儿童AIS标准化分类和诊断评估（CASCADE）标准，最常见的中风病因是心栓塞（急性发作患者为32.0%，无发作患者为18.4%）和单侧局灶性脑动脉病变（22.7%，无发作患者为26.4%）。20.0%和31.8%的中风病因不明。据报道，7名儿童（2.2%）患有严重合并症，如先天性心脏病和败血症。卒中后癫痫患儿的神经系统预后明显较卒中后癫痫患儿差(PSOM评分中位数为3.0比0.5,p <；0.001)。结论急性症状性癫痫发作是儿童缺血性脑卒中的常见并发症，且与年龄和大脑皮层受累密切相关。虽然这些发作不能预测6个月大的早期癫痫发展，但它们是24个月大的中风后癫痫的危险因素。患有中风后癫痫的儿童表现出较差的神经预后，而那些有严重基础疾病的儿童出现耐药癫痫的风险增加。这些发现强调了对高危儿童进行仔细监测和早期干预的必要性。
{"title":"Acute seizures and the risk of post-stroke epilepsy in children with arterial ischemic stroke","authors":"Andrea Rüegger , Eliane Pfister , Regula Everts , Tatia Aprasidze , Arsany Hakim , Gabriela Oesch , Mária Regényi , Maja Steinlin , 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 < 0.001) and cortical involvement (OR 3.3; 95 % CI 1.8–6.0; p < 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 < 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":"2025-07-01","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}
Pub Date : 2025-07-01Epub Date: 2025-05-28DOI: 10.1016/j.ejpn.2025.05.010
A. Donald , C. Horgan , M.J. De Castro Lopez , S.A. Jones , R.F. Wynn
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.
{"title":"Gene therapy in neuronopathic lysosomal storage disorders","authors":"A. Donald , C. Horgan , M.J. De Castro Lopez , S.A. Jones , 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":"2025-07-01","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}
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).
Methods
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 & Go Test (TUG), Timed Function Tests (TFT), Two-Minute Walk Test (2MWT), and Motor Function Measure (MFM-32).
Results
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 > 0.05).
Discussion/conclusion
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.
{"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 , Arzu Razak Özdi̇nçler , Fitnat Uluğ , Serhat Güler , 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 & 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 > 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":"2025-07-01","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}
Pub Date : 2025-07-01Epub Date: 2025-07-09DOI: 10.1016/j.ejpn.2025.07.001
Ruiqing Cui , Yating Wang , Yongqiang Chen , Jinggang Wang , Meihuan Huang
Objectives
This study aims to examine dynamic balance, motor function, and fear of falling (FOF) as indicators of fall risk in children with Duchenne Muscular dystrophy (DMD).
Methods
This cross-sectional study included 92 children with DMD (ages 5–15; mean age 7.44 ± 2.10; mean BMI 17.70 ± 2.96), recruited from Shenzhen Children's Hospital between August 2023 and January 2024. Data collected included demographics, clinical characteristics, and fall history over the past month and year. Dynamic balance was assessed using the four-square step test (FSST), motor function with the motor function measure (MFM-32), 6-min walk test, and timed function tests (TFTs), and FOF using Lim's single-item question.
Results
85.9 % reported falls in the past year, with 45.7 % classified as recurrent fallers (≥1 fall/week or day) and 51.1 % reporting recurrent falls (≥3) in the past month. FSST, MFM, and TFTs scores differed significantly between recurrent and non-recurrent fallers across both timeframes (FSST and MFM: p < 0.001; TFTs: p ≤ 0.01). FOF showed no significant group differences (month: p = 0.066; year: p = 0.054). FSST showed high accuracy in identifying recurrent fallers (AUC = 0.856–0.890; cut-off = 10.41s; sensitivity = 80.9 %–81.0 %; specificity = 88.0 %–95.6 %). In contrast, MFM and TFTs had limited discriminative value.
Conclusion
Dynamic balance, as assessed by the FSST, is a sensitive and specific indicator for identifying recurrent fallers in children with DMD, supporting its clinical utility in fall risk screening and prevention.
{"title":"Tests of dynamic balance, motor function and fear of falling as indicators of fall risk in children with Duchenne muscular dystrophy","authors":"Ruiqing Cui , Yating Wang , Yongqiang Chen , Jinggang Wang , Meihuan Huang","doi":"10.1016/j.ejpn.2025.07.001","DOIUrl":"10.1016/j.ejpn.2025.07.001","url":null,"abstract":"<div><h3>Objectives</h3><div>This study aims to examine dynamic balance, motor function, and fear of falling (FOF) as indicators of fall risk in children with Duchenne Muscular dystrophy (DMD).</div></div><div><h3>Methods</h3><div>This cross-sectional study included 92 children with DMD (ages 5–15; mean age 7.44 ± 2.10; mean BMI 17.70 ± 2.96), recruited from Shenzhen Children's Hospital between August 2023 and January 2024. Data collected included demographics, clinical characteristics, and fall history over the past month and year. Dynamic balance was assessed using the four-square step test (FSST), motor function with the motor function measure (MFM-32), 6-min walk test, and timed function tests (TFTs), and FOF using Lim's single-item question.</div></div><div><h3>Results</h3><div>85.9 % reported falls in the past year, with 45.7 % classified as recurrent fallers (≥1 fall/week or day) and 51.1 % reporting recurrent falls (≥3) in the past month. FSST, MFM, and TFTs scores differed significantly between recurrent and non-recurrent fallers across both timeframes (FSST and MFM: p < 0.001; TFTs: p ≤ 0.01). FOF showed no significant group differences (month: p = 0.066; year: p = 0.054). FSST showed high accuracy in identifying recurrent fallers (AUC = 0.856–0.890; cut-off = 10.41s; sensitivity = 80.9 %–81.0 %; specificity = 88.0 %–95.6 %). In contrast, MFM and TFTs had limited discriminative value.</div></div><div><h3>Conclusion</h3><div>Dynamic balance, as assessed by the FSST, is a sensitive and specific indicator for identifying recurrent fallers in children with DMD, supporting its clinical utility in fall risk screening and prevention.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"57 ","pages":"Pages 91-96"},"PeriodicalIF":2.3,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144587711","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}
Pub Date : 2025-07-01Epub Date: 2025-05-07DOI: 10.1016/j.ejpn.2025.05.001
Caroline Rey , Laetitia Giorgi , Hélène Maurey , Anne-Lise Poulat , Daniel Amsallem , Anne Lepine , Stéphane Auvin , Renaldo Florence , Juliette Ropars , Emmanuel Cheuret , Sarah Baer , Jean-Marc Pinard , Anne Rolland , Pierre-Louis Leger , Sylvie Nguyen The Tich , Pierre Castelnau , Pierre Meyer , Sylvain Renolleau , Diana Rodriguez , Frederic Villega , Kumaran Deiva
Objective
To identify factors associated with the neurological outcome of HSVE in children.
Materials and methods
In this retrospective multicentric observational study, clinical, paraclinical data at onset and neurological outcomes at last follow-up of children (≥28 days and <18 years old) with HSVE, were studied. Univariate and multivariate analyses were performed to identify factors associated with neurological outcome.
Results
49 children (mean age of 4.9 ± 5.5 years) were included. At last follow-up of 5.9 ± 3,13 years, 2 children died (4 %) and 37 (76 %) children presented with poor neurological outcome with epilepsy (57 %), intellectual disability (51 %) and language disorders (47 %). Rehabilitation was necessary for 76 % and 59 % had abnormal academic performances. At onset, younger age and seizures were significantly associated to language disorders (p < 0.01), motor disabilities (p = 0.01), and intellectual disabilities (p = 0.01) in univariate analysis. Abnormal MRIs were more frequent in children with neurological sequalae (p = 0.01). Multivariate analyses identified that: (1) epilepsy occurred more frequently in females (p = 0.03), with insular lesions (p = 0.048); (2) language disorders were more common in children who had seizures at onset (p 0.02); (3) motor disorders were more frequent in younger children (p = 0.03) with thalamic lesions (p = 0.04).
Conclusion
Our findings indicate that despite decrease in mortality rates, neurological disabilities in children with HSVE still persist at high levels. This underscores the need to enhance HSVE management strategies. Moreover, the identified risk factors associated with poor neurological outcomes can aid in identifying high-risk children, facilitating the implementation of alternative treatment approaches such as immunotherapy or intensive rehabilitation.
{"title":"Neurological outcomes and disability predictors in paediatric herpes simplex virus encephalitis: a multicentre cohort from French tertiary hospitals","authors":"Caroline Rey , Laetitia Giorgi , Hélène Maurey , Anne-Lise Poulat , Daniel Amsallem , Anne Lepine , Stéphane Auvin , Renaldo Florence , Juliette Ropars , Emmanuel Cheuret , Sarah Baer , Jean-Marc Pinard , Anne Rolland , Pierre-Louis Leger , Sylvie Nguyen The Tich , Pierre Castelnau , Pierre Meyer , Sylvain Renolleau , Diana Rodriguez , Frederic Villega , Kumaran Deiva","doi":"10.1016/j.ejpn.2025.05.001","DOIUrl":"10.1016/j.ejpn.2025.05.001","url":null,"abstract":"<div><h3>Objective</h3><div>To identify factors associated with the neurological outcome of HSVE in children.</div></div><div><h3>Materials and methods</h3><div>In this retrospective multicentric observational study, clinical, paraclinical data at onset and neurological outcomes at last follow-up of children (≥28 days and <18 years old) with HSVE, were studied. Univariate and multivariate analyses were performed to identify factors associated with neurological outcome.</div></div><div><h3>Results</h3><div>49 children (mean age of 4.9 ± 5.5 years) were included. At last follow-up of 5.9 ± 3,13 years, 2 children died (4 %) and 37 (76 %) children presented with poor neurological outcome with epilepsy (57 %), intellectual disability (51 %) and language disorders (47 %). Rehabilitation was necessary for 76 % and 59 % had abnormal academic performances. At onset, younger age and seizures were significantly associated to language disorders (p < 0.01), motor disabilities (p = 0.01), and intellectual disabilities (p = 0.01) in univariate analysis. Abnormal MRIs were more frequent in children with neurological sequalae (p = 0.01). Multivariate analyses identified that: (1) epilepsy occurred more frequently in females (p = 0.03), with insular lesions (p = 0.048); (2) language disorders were more common in children who had seizures at onset (p 0.02); (3) motor disorders were more frequent in younger children (p = 0.03) with thalamic lesions (p = 0.04).</div></div><div><h3>Conclusion</h3><div>Our findings indicate that despite decrease in mortality rates, neurological disabilities in children with HSVE still persist at high levels. This underscores the need to enhance HSVE management strategies. Moreover, the identified risk factors associated with poor neurological outcomes can aid in identifying high-risk children, facilitating the implementation of alternative treatment approaches such as immunotherapy or intensive rehabilitation.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"57 ","pages":"Pages 7-14"},"PeriodicalIF":2.3,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144090521","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}
Pub Date : 2025-05-01Epub Date: 2025-05-05DOI: 10.1016/j.ejpn.2025.05.002
Paola De Liso , Richard Webster , Barbara Plecko , Federico Vigevano
{"title":"Hepatocellular carcinoma in two unrelated patients with PNPO deficiency Epilepsy: A risk of long-term pyridoxal-5′-phosphate therapy?","authors":"Paola De Liso , Richard Webster , Barbara Plecko , Federico Vigevano","doi":"10.1016/j.ejpn.2025.05.002","DOIUrl":"10.1016/j.ejpn.2025.05.002","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 104-106"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143928276","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}
Pub Date : 2025-05-01Epub Date: 2025-04-10DOI: 10.1016/j.ejpn.2025.04.003
Anna Mercante , Nardo Nardocci , Emilio Fernández-Alvarez , Daniel E. Lumsden , Julie Hauer , Mercedes Bernadá , Ross Drake , Ulrika Kreicbergs , Rocío Palomo-Carrión , Marco Gemma , Philippe Coubes , Alfonso Fasano , Jean-Pierre Lin , Franca Benini , Pediatric Dystonia and Palliative Care Group and the European Paediatric Neurology Society (EPNS)
Background
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.
Objectives
To develop a standardized approach to dystonia in PPC.
Materials and methods
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.
Results
Fifty-three items were endorsed, providing expert, consensus-based recommendations.
Conclusions
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.
{"title":"Towards new perspectives: International consensus guidance on dystonia in pediatric palliative care","authors":"Anna Mercante , Nardo Nardocci , Emilio Fernández-Alvarez , Daniel E. Lumsden , Julie Hauer , Mercedes Bernadá , Ross Drake , Ulrika Kreicbergs , Rocío Palomo-Carrión , Marco Gemma , Philippe Coubes , Alfonso Fasano , Jean-Pierre Lin , Franca Benini , 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":"2025-05-01","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}
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