European Journal of Paediatric Neurology最新文献_第2页

Exploring the psychosocial and educational needs of young people with epilepsy and their parents:A systematic review 探索青少年癫痫患者及其父母的社会心理和教育需求：一项系统综述。

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2024.11.009

Marie Hyland , Laura Gallagher , Ann Connolly , Catherine Comiskey

引用次数: 0

Prognostic significance of ACTN3 genotype in Duchenne muscular dystrophy: Findings from an Argentine patient cohort ACTN3基因型对杜氏肌营养不良症的预后意义：阿根廷患者队列的研究结果。

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2024.12.003

Leonela Luce , Chiara Mazzanti , Micaela Carcione , Carmen Llames Massini , Paula Inés Buonfiglio , Viviana Dalamón , Carla Bolaño Díaz , Lilia Mesa , Alberto Dubrovsky , Javier Cotignola , Florencia Giliberto

A wide phenotypic spectrum exists among DMD patients, with genetic modifiers seen as a putative cause of this variability. The main aim was to evaluate the effect of 4 genetic modifiers and the location of DMD variants on disease severity in a DMD Argentine cohort. A secondary objective was to provide a summary of the current state of knowledge and association of the tested loci with DMD's phenotype. Two groups of patients with extreme phenotypes (Severe/Mild) were defined based on the age at loss of ambulation. SNVs in SPP1, LTBP4, CD40, and ACTN3 were genotyped, and their distribution was compared between groups using Chi-square or Fisher exact tests. Concurrent effects with glucocorticoids treatment, DMD mutation location (proximal/distal) and the other loci were evaluated by multivariate logistic regression. Additionally, we performed a systematic literature review to summarize and interpret the impact of modifiers on various DMD traits. ACTN3-rs1815739 was the only modifier loci of DMD progression in our cohort. A concurrent damaging effect between DMD mutation and ACTN3 was detected, identifying a possible interaction between distal variants and ACTN3 TT-genotype that need to be validated in a larger cohort. The systematic review showed agreement in the results when significant differences were reported. The employment of extreme DMD phenotypic groups was an innovative approach for identifying risk loci for disease severity. The interaction between DMD mutation location and ACTN3, if confirmed, could help to avoid confounding elements in assembling study cohorts for clinical trials. Finally, this report's major highlight is being the first study conducted on an Argentine and Latin-American population.

在DMD患者中存在广泛的表型谱，遗传修饰被认为是这种变异性的假定原因。主要目的是评估阿根廷DMD队列中4种遗传修饰因子和DMD变异位点对疾病严重程度的影响。第二个目的是总结当前的知识状态和测试基因座与DMD表型的关联。两组极端表型（重度/轻度）的患者根据丧失活动能力的年龄来定义。SPP1、LTBP4、CD40和ACTN3的snv进行基因分型，并采用卡方检验或Fisher精确检验比较各组间snv的分布。通过多变量logistic回归评估糖皮质激素治疗、DMD突变位置（近端/远端）和其他基因座的并发效应。此外，我们进行了系统的文献综述，总结和解释了修饰语对各种DMD性状的影响。在我们的队列中，ACTN3-rs1815739是DMD进展的唯一修饰位点。检测到DMD突变和ACTN3之间同时存在破坏性影响，确定了远端变异和ACTN3 tt基因型之间可能存在相互作用，这需要在更大的队列中进行验证。当有显著差异时，系统评价显示结果一致。使用极端DMD表型组是识别疾病严重程度风险位点的一种创新方法。DMD突变位点与ACTN3之间的相互作用如果得到证实，将有助于避免临床试验研究队列的混淆因素。最后，本报告的主要亮点是首次对阿根廷和拉丁美洲人口进行的研究。

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引用次数: 0

The impact of lesion size on executive function performance in children and adolescents after pediatric stroke

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2025.02.006

Kathrin Kollndorfer , Florian PhS. Fischmeister , Astrid Novak , Rainer Seidl , Gregor Kasprian , Lisa Bartha-Doering

Cognitive deficits after childhood arterial ischemic stroke (AIS) can be observed in more than half the affected children, especially in executive functions. Previous research revealed some main factors that influence cognitive outcome after childhood AIS, including lesion location, lesion size, and age at stroke. However, the importance of lesion size particularly has been discussed controversially. Thus, the present study takes a closer look at the impact of lesion size on executive performance in children who suffered an AIS using both direct cognitive testing and parental ratings. The study sample comprised 14 patients after childhood AIS (mean age 12.71, 5 female) and 14 age- and sex-matched healthy controls (mean age 11.00, 6 female). Results of cognitive testing revealed that the patient group performed poorer in executive functioning compared to controls, but mostly within the normal range. Lesion size correlated with sustained attention performance and some of the parental rating scales. However, if these correlations were controlled for sustained attention, lesion size was no longer correlated with any parental rating scale. The results of the present study suggest that sustained attention performance mediates the correlation between parental ratings of executive functions and lesion size. This confounding factor may explain inconsistent results of the relationship between lesion size and cognitive outcome in previous research.

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引用次数: 0

The natural history of pediatric Sturge-Weber Syndrome: A multinational cross-sectional study

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2025.02.004

Sigrid Claudia Disse , Hanna Küpper , Annette Bock , Georg-Christoph Korenke , Georgia Ramantani , Birgit Weidner , Martin Preisel , Regina Trollmann , Adelheid Wiemer-Kruel , Knut Brockmann , Simone Schroeder , Sascha Meyer

Background

Sturge-Weber Syndrome (SWS) is a capillary-venous malformation which includes the brain (leptomeningeal venous capillary malformation), the eye (choroidal angioma) and the skin (facial portwine birthmark, FPB). Structural epilepsy, glaucoma and FPBs pose therapeutic challenges. Considerable advances include improved neuroimaging, new antiseizure medication (ASM) and progress in epilepsy surgery. Yet, comprehensive data on epidemiology, clinical features, diagnostics, and treatment in contemporary pediatric SWS cohorts is scarce.

Methods

We conducted a multinational cross-sectional observational study in Germany, Switzerland and Austria to identify potential patients and build up a comprehensive database containing anonymized patient data. The patients’ guardians and child neurologists filled in detailed questionnaires on histories, clinical features, diagnostic and therapeutic measures.

Results

Forty-seven SWS patients from Germany, Switzerland or Austria participated in our survey (111 notifications, i.e. the participation rate was 43 %). Prevalence was 7.37/million in Germany, 4.60/million in Switzerland, 2.61/million in Austria. Severity of skin, eye and brain involvement varied highly. Forty-three patients (91 %) were diagnosed with epilepsy. Median age at first seizure was 6.5 months. Thirty-two percent of the cohort received ASM in monotherapy, fifty-three percent received combination therapy and thirteen percent received no ASM. Eight percent underwent epilepsy surgery.

Conclusions

In this European pediatric SWS cohort from a well-established tertiary child neurologist network, the condition was commonly diagnosed within the first year of life. 40 % of the cohort were seizure-free at inclusion; only 8.5 % of the cohort underwent epilepsy surgery. Our findings are concordant with published data from U.S. registries and case series. While our results indicate diagnostic improvement as compared to published studies, epilepsy management in SWS remains a challenge.

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引用次数: 0

Etiology-specific subgroup analysis of initial pharmacotherapy in infantile epileptic spasm syndrome: A single-center cohort study 婴儿癫痫痉挛综合征初始药物治疗的病因特异性亚组分析：一项单中心队列研究。

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2025.01.001

Cemile Busra Olculu, Seda Kanmaz, Tugce Ince, Ozlem Yilmaz, Dilara Ece Toprak, Hepsen Mine Serin, Sanem Yilmaz, Hasan Tekgul

Aim

To evaluate the efficacy of initial pharmacotherapy for infantile epileptic spasm syndrome (IESS) with electro-clinical outcome characteristics.

Method

A retrospective comparative cohort study with 280 IESS patients was designed; I. vigabatrin monotherapy (n = 129, 46 %); II. hormonotherapy (ACTH/oral prednisolone) (n = 73, 26 %); and III. vigabatrin plus early initiation of hormonotherapy in the first 14 days (n = 78, 28 %). Two types of outcomes were defined: (1) short-term outcome with spasm cessation time ≤42 days and resolution of hypsarrhythmia on the EEG on ≤3 months and (2) long-term outcome with spasm relapse rate or evolution to a new epileptic syndrome.

Results

The etiology-specific diagnoses of the IESS cohort were defined according to the ILAE classification: structural (n = 131, 46.8 %), genetic (n = 28, 10 %), metabolic (n = 13, 4.6 %), immune-infectious (n = 10, 3.6 %), and unknown (n = 98, 35 %). Each treatment modalities had similar short- and long-term outcome characteristics. However, hormonotherapy with steroids (ACTH/oral prednisolone) provided “early IESS resolution” with spasm cessation and resolution of hypsarrhythmia (p = 0.042). The relapse rates of IESS were significantly higher in the etiology well-defined group compared to the unknown group (p = 0.005). The genetic-etiology specific group was more likely to have evolved to a new electro-clinical syndrome with a rate of 83.3 % than the others (p = 0.039).

Conclusion

We observed that the early initiation of hormonotherapy with VGB (sequential therapy) should be investigated in etiology well-defined subgroup with short- and long-term outcome characteristics.

目的：评估婴儿癫痫痉挛综合征（IESS）初始药物治疗的疗效和电临床结果特征：方法：对280例IESS患者进行了回顾性队列比较研究；I.维加巴特林单一疗法（129例，46%）；II.激素疗法（ACTH/口服泼尼松龙）（73例，26%）；III.维加巴特林加前14天早期激素疗法（78例，28%）。结果分为两类：(1) 短期结果，即痉挛停止时间≤42天，脑电图上的低心律失常缓解时间≤3个月；(2) 长期结果，即痉挛复发率或演变为新的癫痫综合征：IESS队列的病因特异性诊断是根据ILAE分类确定的：结构性（n = 131，46.8%）、遗传性（n = 28，10%）、代谢性（n = 13，4.6%）、免疫感染性（n = 10，3.6%）和未知性（n = 98，35%）。每种治疗方法的短期和长期疗效特征相似。然而，使用类固醇（促肾上腺皮质激素/口服泼尼松龙）进行激素治疗可 "早期缓解 IESS"，痉挛停止，低心律失常缓解（p = 0.042）。病因明确组的 IESS 复发率明显高于病因不明组（p = 0.005）。遗传病因明确组比其他组更有可能演变为新的电临床综合征，其比例为 83.3%（p = 0.039）：我们发现，应根据短期和长期结果特征，对病因明确的亚组进行早期启动激素治疗与 VGB（序贯疗法）的研究。

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引用次数: 0

Immunoadsorption is equally effective as plasma exchange in paediatric neuroimmunological disorders - A retrospective multicentre study 免疫吸附与血浆交换治疗小儿神经免疫疾病同样有效——一项多中心回顾性研究。

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2024.12.005

Paula Cramer , Marc Nikolaus , Sebastian Loos , Jonas Denecke , Ellen Knierim , Dominik Müller , Lutz T. Weber , Christina Taylan , Julia Thumfart

Background

Therapeutic apheresis (TA) are promising treatment option for neuroimmunological disorders. In paediatrics, the available data is limited, particularly for the use of IA. The aim of this study was to analyse the use of PE and IA in children and adolescents, with emphasis on outcome and neurological course after treatment as well as the safety of the two modalities.

Methods

Clinical data from paediatric patients with neuroimmunological disorders treated with TA in two German university children's hospitals between 2015 and 2022 were retrospectively analysed.

Results

In total, 39 patients underwent 322 sessions of TA, of which 184 were IA and 138 PE. The most common diagnosis was autoimmune encephalitis in 39 % (n = 15) of the patients. Other indications were central nervous system inflammatory demyelinating disorders in 21 % (n = 8), Guillain-Barré syndrome in 18 % (n = 7), Myelin Oligodendrocyte Glycopeptide-antibody associated syndromes in 8 % (n = 3), Myasthenia gravis in 5 % (n = 2) and other neurological disorders in 10 % (n = 4). Overall, there was an improvement in 76 % of patients (81 % with IA, 70 % with PE; p = 0.41) immediately after treatment and an improvement in 88 % of patients (90 % with IA, 85 % with PE; p = 0.63) one month after treatment. Complications occurred in 13 % of all sessions (13 % with IA and 13 % with PE; p = 1). Most complications were considered as moderate.

Conclusion

Both, IA and PE, are effective treatment options in the therapy of neuroimmunological disorders in children and adolescents, with no major differences in terms of efficiency or safety.

背景：治疗性采血（TA）是治疗神经免疫疾病的一种很有前途的方法。在儿科，可获得的数据是有限的，特别是对于IA的使用。本研究的目的是分析PE和IA在儿童和青少年中的应用，重点是治疗后的结果和神经病程，以及这两种方式的安全性。方法：回顾性分析2015年至2022年在德国两所大学儿童医院接受TA治疗的神经免疫疾病患儿的临床资料。结果：39例患者共接受了322次TA，其中IA 184次，PE 138次。39% （n = 15）的患者最常见的诊断是自身免疫性脑炎。其他适应症为中枢神经系统炎症性脱髓鞘疾病21% (n = 8)，格林-巴利综合征18% (n = 7)，髓鞘少突胶质细胞糖肽抗体相关综合征8% (n = 3)，重症肌无力5% (n = 2)，其他神经系统疾病10% （n = 4）。总体而言，76%的患者(IA 81%, PE 70%；p = 0.41)， 88%的患者(IA为90%，PE为85%；P = 0.63)。并发症发生率为13% (IA组为13%，PE组为13%；p = 1)。大多数并发症被认为是中度。结论：IA和PE都是治疗儿童和青少年神经免疫疾病的有效治疗方案，在效率和安全性方面没有重大差异。

{"title":"Immunoadsorption is equally effective as plasma exchange in paediatric neuroimmunological disorders - A retrospective multicentre study","authors":"Paula Cramer , Marc Nikolaus , Sebastian Loos , Jonas Denecke , Ellen Knierim , Dominik Müller , Lutz T. Weber , Christina Taylan , Julia Thumfart","doi":"10.1016/j.ejpn.2024.12.005","DOIUrl":"10.1016/j.ejpn.2024.12.005","url":null,"abstract":"<div><h3>Background</h3><div>Therapeutic apheresis (TA) are promising treatment option for neuroimmunological disorders. In paediatrics, the available data is limited, particularly for the use of IA. The aim of this study was to analyse the use of PE and IA in children and adolescents, with emphasis on outcome and neurological course after treatment as well as the safety of the two modalities.</div></div><div><h3>Methods</h3><div>Clinical data from paediatric patients with neuroimmunological disorders treated with TA in two German university children's hospitals between 2015 and 2022 were retrospectively analysed.</div></div><div><h3>Results</h3><div>In total, 39 patients underwent 322 sessions of TA, of which 184 were IA and 138 PE. The most common diagnosis was autoimmune encephalitis in 39 % (n = 15) of the patients. Other indications were central nervous system inflammatory demyelinating disorders in 21 % (n = 8), Guillain-Barré syndrome in 18 % (n = 7), Myelin Oligodendrocyte Glycopeptide-antibody associated syndromes in 8 % (n = 3), Myasthenia gravis in 5 % (n = 2) and other neurological disorders in 10 % (n = 4). Overall, there was an improvement in 76 % of patients (81 % with IA, 70 % with PE; p = 0.41) immediately after treatment and an improvement in 88 % of patients (90 % with IA, 85 % with PE; p = 0.63) one month after treatment. Complications occurred in 13 % of all sessions (13 % with IA and 13 % with PE; p = 1). Most complications were considered as moderate.</div></div><div><h3>Conclusion</h3><div>Both, IA and PE, are effective treatment options in the therapy of neuroimmunological disorders in children and adolescents, with no major differences in terms of efficiency or safety.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 58-63"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142928559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Harmful metabolic acidosis in children treated by ketogenic diet during prolonged general anesthesia for epilepsy surgery: A single center experience

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2025.01.008

Rayann Checri , Severine Gras , Simon Clariot , Anais Chivet , Marie-Thérèse Dangles , Julie Bonheur , Nathalie Dorison , Mathilde Chipaux , Pierre Trouiller , Sarah Ferrand-Sorbets , Jean-Michel Devys , Emmanuel Raffo

Objective

Management of ketogenic diet (KD) in case of prolonged anesthesia in children.

Methods

We conducted a retrospective study in the pediatric neurosurgery department of Rothschild Hospital Foundation in France. All the children who underwent long term anesthesia (>4h) in case of neurosurgery for drug resistant pediatric epilepsy surgery between September 2020 and January 2024 were included, excluding patients with suspected metabolic disorder or without blood sample. Children were analyzed in three subgroups: Children under regular diet before surgery constituted the Non-KD group; strict maintenance of KD with no carbohydrate intake during surgery constituted the KD-S group (stringent); carbohydrate intravenous intake during surgery in a patient treated by KD represented the KD-B group (broken).

Results

22 patients were included, among whom 6 under ketogenic diet (KD). After 4 h of anesthesia, children maintained in strict ketogenic diet (KD-S, n = 3) exhibited non-lactic metabolic acidosis (pH 7.13 vs 7.34, p = 1.38x10⁻⁹) associated with an increased anionic gap (17.1 mM vs 9.6 mM, p = 1.58 x10⁻⁴).

Significance

Current recommendations for anesthesia during long term anesthesia (>4h) with strict no-carbohydrate intake during anesthesia in case ok KD may be at risk of life-threatening metabolic acidosis, in a context of absence of protocolized monitoring of variations in hyperketosis throughout a prolonged fast. A KD-management protocol, including routine monitoring of ketosis in addition to usual monitoring (lactacidemia, kaliemia and glycemia), and low carbohydrates intravenous perfusion throughout prolonged general anesthesia, should be implemented throughout prolonged general anesthesia, especially for infants younger than 2 years.

{"title":"Harmful metabolic acidosis in children treated by ketogenic diet during prolonged general anesthesia for epilepsy surgery: A single center experience","authors":"Rayann Checri , Severine Gras , Simon Clariot , Anais Chivet , Marie-Thérèse Dangles , Julie Bonheur , Nathalie Dorison , Mathilde Chipaux , Pierre Trouiller , Sarah Ferrand-Sorbets , Jean-Michel Devys , Emmanuel Raffo","doi":"10.1016/j.ejpn.2025.01.008","DOIUrl":"10.1016/j.ejpn.2025.01.008","url":null,"abstract":"<div><h3>Objective</h3><div>Management of ketogenic diet (KD) in case of prolonged anesthesia in children.</div></div><div><h3>Methods</h3><div>We conducted a retrospective study in the pediatric neurosurgery department of Rothschild Hospital Foundation in France. All the children who underwent long term anesthesia (>4h) in case of neurosurgery for drug resistant pediatric epilepsy surgery between September 2020 and January 2024 were included, excluding patients with suspected metabolic disorder or without blood sample. Children were analyzed in three subgroups: Children under regular diet before surgery constituted the Non-KD group; strict maintenance of KD with no carbohydrate intake during surgery constituted the KD-S group (stringent); carbohydrate intravenous intake during surgery in a patient treated by KD represented the KD-B group (broken).</div></div><div><h3>Results</h3><div>22 patients were included, among whom 6 under ketogenic diet (KD). After 4 h of anesthesia, children maintained in strict ketogenic diet (KD-S, n = 3) exhibited non-lactic metabolic acidosis (pH 7.13 vs 7.34, p = 1.38x10<sup>−9</sup>) associated with an increased anionic gap (17.1 mM vs 9.6 mM, p = 1.58 x10<sup>−4</sup>).</div></div><div><h3>Significance</h3><div>Current recommendations for anesthesia during long term anesthesia (>4h) with strict no-carbohydrate intake during anesthesia in case ok KD may be at risk of life-threatening metabolic acidosis, in a context of absence of protocolized monitoring of variations in hyperketosis throughout a prolonged fast. A KD-management protocol, including routine monitoring of ketosis in addition to usual monitoring (lactacidemia, kaliemia and glycemia), and low carbohydrates intravenous perfusion throughout prolonged general anesthesia, should be implemented throughout prolonged general anesthesia, especially for infants younger than 2 years.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 140-146"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143081962","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Mitochondrial disorder diagnosis and management– what the pediatric neurologist wants to know 线粒体疾病的诊断和管理——儿科神经科医生想知道的。

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2024.10.009

Oliver Heath , René G. Feichtinger , Melanie T. Achleitner , Peter Hofbauer , Doris Mayr , Kajus Merkevicius , Johannes Spenger , Katja Steinbrücker , Carina Steindl , Elke Tiefenthaler , Johannes A. Mayr , Saskia B. Wortmann

Childhood-onset mitochondrial disorders are rare genetic diseases that often manifest with neurological impairment due to altered mitochondrial structure or function. To date, pathogenic variants in 373 genes across the nuclear and mitochondrial genomes have been linked to mitochondrial disease, but the ensuing genetic and clinical complexity of these disorders poses considerable challenges to their diagnosis and management. Nevertheless, despite the current lack of curative treatment, recent advances in next generation sequencing and -omics technologies have laid the foundation for precision mitochondrial medicine through enhanced diagnostic accuracy and greater insight into pathomechanisms. This holds promise for the development of targeted treatments in this group of patients. Against a backdrop of inherent challenges and recent technological advances in mitochondrial medicine, this review discusses the current diagnostic approach to a child with suspected mitochondrial disease and outlines management considerations of particular relevance to paediatric neurologists. We highlight the importance of mitochondrial expertise centres in providing the laboratory infrastructure needed to supplement uninformative first line genomic testing with focused and/or further unbiased investigations where needed, as well as coordinating an integrated multidisciplinary model of care that is paramount to the management of patients affected by these conditions.

儿童期线粒体疾病是一种罕见的遗传性疾病，通常表现为由于线粒体结构或功能改变而导致的神经损伤。迄今为止，细胞核和线粒体基因组中373个基因的致病变异与线粒体疾病有关，但这些疾病随之而来的遗传和临床复杂性给其诊断和管理带来了相当大的挑战。然而，尽管目前缺乏治愈性治疗，但下一代测序和组学技术的最新进展通过提高诊断准确性和更深入地了解病理机制，为精确的线粒体医学奠定了基础。这为开发针对这类患者的靶向治疗提供了希望。在线粒体医学固有挑战和最新技术进步的背景下，本综述讨论了目前疑似线粒体疾病儿童的诊断方法，并概述了与儿科神经科医生特别相关的管理考虑。我们强调线粒体专家中心在提供实验室基础设施方面的重要性，这些实验室基础设施可以补充缺乏信息的一线基因组检测，并在需要时进行重点和/或进一步的无偏见调查，以及协调一个综合的多学科护理模式，这对受这些疾病影响的患者的管理至关重要。

{"title":"Mitochondrial disorder diagnosis and management– what the pediatric neurologist wants to know","authors":"Oliver Heath , René G. Feichtinger , Melanie T. Achleitner , Peter Hofbauer , Doris Mayr , Kajus Merkevicius , Johannes Spenger , Katja Steinbrücker , Carina Steindl , Elke Tiefenthaler , Johannes A. Mayr , Saskia B. Wortmann","doi":"10.1016/j.ejpn.2024.10.009","DOIUrl":"10.1016/j.ejpn.2024.10.009","url":null,"abstract":"<div><div>Childhood-onset mitochondrial disorders are rare genetic diseases that often manifest with neurological impairment due to altered mitochondrial structure or function. To date, pathogenic variants in 373 genes across the nuclear and mitochondrial genomes have been linked to mitochondrial disease, but the ensuing genetic and clinical complexity of these disorders poses considerable challenges to their diagnosis and management. Nevertheless, despite the current lack of curative treatment, recent advances in next generation sequencing and -omics technologies have laid the foundation for precision mitochondrial medicine through enhanced diagnostic accuracy and greater insight into pathomechanisms. This holds promise for the development of targeted treatments in this group of patients. Against a backdrop of inherent challenges and recent technological advances in mitochondrial medicine, this review discusses the current diagnostic approach to a child with suspected mitochondrial disease and outlines management considerations of particular relevance to paediatric neurologists. We highlight the importance of mitochondrial expertise centres in providing the laboratory infrastructure needed to supplement uninformative first line genomic testing with focused and/or further unbiased investigations where needed, as well as coordinating an integrated multidisciplinary model of care that is paramount to the management of patients affected by these conditions.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 75-88"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Characterization of children with early onset pediatric multiple sclerosis

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2025.01.006

Franziska Kauth , Annikki Bertolini , Eva-Maria Wendel , Georgia Koukou , Ines El Naggar , Jena Chung , Matthias Baumann , Christopher Schödl , Christian Lechner , Sandra Bigi , Astrid Blaschek , Jan Georg Hengstler , Mareike Schimmel , Margherita Nosadini , Stefano Sartori , Marco Puthenparampil , Karin Storm van's Gravesande , Anne Drenckhahn , Marc Nikolaus , Birgit Kauffmann , Kevin Rostásy

Background

Early onset pediatric multiple sclerosis (EOPMS) provides an early window of opportunity to understand the mechanisms leading to MS.

Objective

To investigate clinical, laboratory and imaging differences between children with early onset pediatric MS (<11 years, EOPMS) and late onset pediatric MS (≥11 years, LOPMS).

Methods

Mostly prospectively collected data of children with MS including clinical presentation, MRI at onset, time to second relapse, relapse rate, treatment history, and CSF markers were eligible.

Results

In total 274 children were included, n = 53 children with EOPMS and n = 221 children with LOPMS. In children with EOPMS both sexes were equally affected, while in LOPMS the female sex was more prevalent (p < 0.001). Presence of additional oligoclonal bands (OCBs) in the cerebrospinal fluid (CSF) was comparable in both age groups (92.3 % vs 89.5 %). Children with EOPMS had more relapses in the first 2 years (p = 0.004). Children with LOPMS had significantly more spinal lesions (p = 0.001). Presence of a prior EBV infection tested in a subset of children with EOPMS (n = 34) was only detected in 27/34 (79 %).

Conclusion

Our findings suggest that both groups share important similarities but also important differences such as an increased relapse rate and a higher amount of infratentorial lesions in EOPMS. Furthermore, our results allude to a prior EBV-infection possibly not being an indispensable requirement for the development of MS in children with EOPMS.

{"title":"Characterization of children with early onset pediatric multiple sclerosis","authors":"Franziska Kauth , Annikki Bertolini , Eva-Maria Wendel , Georgia Koukou , Ines El Naggar , Jena Chung , Matthias Baumann , Christopher Schödl , Christian Lechner , Sandra Bigi , Astrid Blaschek , Jan Georg Hengstler , Mareike Schimmel , Margherita Nosadini , Stefano Sartori , Marco Puthenparampil , Karin Storm van's Gravesande , Anne Drenckhahn , Marc Nikolaus , Birgit Kauffmann , Kevin Rostásy","doi":"10.1016/j.ejpn.2025.01.006","DOIUrl":"10.1016/j.ejpn.2025.01.006","url":null,"abstract":"<div><h3>Background</h3><div>Early onset pediatric multiple sclerosis (EOPMS) provides an early window of opportunity to understand the mechanisms leading to MS.</div></div><div><h3>Objective</h3><div>To investigate clinical, laboratory and imaging differences between children with early onset pediatric MS (<11 years, EOPMS) and late onset pediatric MS (≥11 years, LOPMS).</div></div><div><h3>Methods</h3><div>Mostly prospectively collected data of children with MS including clinical presentation, MRI at onset, time to second relapse, relapse rate, treatment history, and CSF markers were eligible.</div></div><div><h3>Results</h3><div>In total 274 children were included, n = 53 children with EOPMS and n = 221 children with LOPMS. In children with EOPMS both sexes were equally affected, while in LOPMS the female sex was more prevalent (p < 0.001). Presence of additional oligoclonal bands (OCBs) in the cerebrospinal fluid (CSF) was comparable in both age groups (92.3 % vs 89.5 %). Children with EOPMS had more relapses in the first 2 years (p = 0.004). Children with LOPMS had significantly more spinal lesions (p = 0.001). Presence of a prior EBV infection tested in a subset of children with EOPMS (n = 34) was only detected in 27/34 (79 %).</div></div><div><h3>Conclusion</h3><div>Our findings suggest that both groups share important similarities but also important differences such as an increased relapse rate and a higher amount of infratentorial lesions in EOPMS. Furthermore, our results allude to a prior EBV-infection possibly not being an indispensable requirement for the development of MS in children with EOPMS.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 113-120"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143068543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Plant-derived cannabinoids for treatment of spasticity in children and adolescents with severe cerebral palsy: Double-blind, placebo-controlled trial 植物源性大麻素治疗严重脑瘫儿童和青少年痉挛：双盲、安慰剂对照试验

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2024.11.007

Milica Stefanović , Damjan Osredkar , Zvonka Rener-Primec , Jakob Peterlin , Tomislav Laptoš , David Neubauer

Background

To assess the efficacy, safety, and tolerability of full-spectrum cannabis oil (FSCO) (CBD:THC ratio of 10:1) for the treatment of spasticity in individuals with spastic cerebral palsy (CP) grades IV and V.

Method

A pilot trial to assess the feasibility of FSCO in seven CP patients was followed by a prospective double-blind, placebo-controlled parallel trial, with 53 participants aged 5–25 years, randomised in a 1:1 ratio. The double-blind phase lasted six weeks, followed by the open-label phase of six weeks’ duration. The primary endpoint was a change in spasticity measured by the modified Ashworth Scale. Secondary outcomes were changes in motor function (Gross Motor Function Measure 88 scale), quality of life, safety, and tolerability.

Results

There was no significant difference in spasticity, motor function, and quality of life parameters between patients receiving FSCO or placebo. Patients in the FSCO group were significantly drowsier compared to the placebo group. Adverse events were mild to moderate; there were no life-threatening events.

Interpretation

This trial suggests FSCO treatment in children with CP is generally well tolerated and safe. It might have benefits on quality of life. No significant change in spasticity was demonstrated with FSCO treatment compared to the placebo.

背景：为了评估全谱大麻油（FSCO）（CBD:THC比例为10:1）治疗痉挛性脑瘫（CP） IV级和v级患者痉挛的有效性、安全性和耐受性。方法：在一项评估FSCO在7例CP患者中的可行性的先导试验之后，进行了一项前瞻性双盲、安慰剂对照平行试验，53名年龄在5-25岁的参与者，按1:1的比例随机分组。双盲阶段持续6周，随后是6周的开放标签阶段。主要终点是用改良Ashworth量表测量痉挛的改变。次要结果是运动功能（大运动功能量表88）、生活质量、安全性和耐受性的变化。结果：接受FSCO或安慰剂治疗的患者在痉挛、运动功能和生活质量参数方面无显著差异。与安慰剂组相比，FSCO组患者明显嗜睡。不良事件为轻至中度；没有任何危及生命的事件。解释：该试验表明，对CP患儿进行FSCO治疗通常耐受性良好且安全。它可能对生活质量有好处。与安慰剂相比，FSCO治疗没有明显的痉挛改变。

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引用次数: 0