European Journal of Paediatric Neurology最新文献

英文中文

Advancing understanding and treatment of YWHAG-related developmental and epileptic encephalopathy 促进对与 YWHAG 相关的发育性和癫痫性脑病的了解和治疗。

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2024-11-01 DOI: 10.1016/j.ejpn.2024.11.003

Brahim Tabarki MD

引用次数: 0

Is CSF hypocretin level useful for differentiating narcolepsy type 1 and 2? 脑脊液低视网膜素水平是否有助于区分 1 型和 2 型嗜睡症？

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2024-11-01 DOI: 10.1016/j.ejpn.2024.11.005

Oliviero Bruni

引用次数: 0

A life course perspective on mental disorders and psychopharmacologic drug use among persons living with cerebral palsy 从生命历程的角度看脑瘫患者的精神障碍和精神药物使用。

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2024-11-01 DOI: 10.1016/j.ejpn.2024.11.001

Anna Linder , Johan Jarl , Kristina Tedroff

In this study, we investigated the prevalence of mental disorders and the use of psychopharmacologic drugs among individuals with cerebral palsy (CP). We studied how the association between CP and mental illness develops over the life course (between ages 5 and 65 years), and how it varies across disability specific factors (intellectual disability, gross motor function and communicative ability). We used logistic regression models on a longitudinal matched case-control data material on all persons with CP in Sweden linked to several administrative registers including, the national patient registers and the pharmaceutical registers.

Our results showed that the probability of being diagnosed with mental disorders and being dispensed psychopharmacologic drug was significantly higher among persons with CP compared to persons without CP across the different outcomes [OR = 1.52–4.7]. For some mental and neurodevelopmental disorders including sleep disorders, autism, and ADHD, and for the use of anxiolytics and sedatives, there was a sizeable gap already in childhood. However, the excess burden of mental illness appeared to grow over the life course, indicating that adults with CP may be a particularly disadvantaged group. Diagnosis for mental disorders and dispensation for psychopharmacologic drugs were not consistent with respect to disability specific factors, especially communicative and intellectual function, which indicates the need for systematic approaches in the mental health care of individuals with CP.

在这项研究中，我们调查了脑性瘫痪（CP）患者中精神障碍的患病率和精神药物的使用情况。我们研究了 CP 与精神疾病之间的关联在生命过程中（5 岁至 65 岁之间）是如何发展的，以及这种关联在不同残疾特定因素（智力残疾、大运动功能和沟通能力）之间是如何变化的。我们使用逻辑回归模型对瑞典所有 CP 患者的纵向匹配病例对照数据资料进行了分析，该数据资料与多个行政登记册（包括全国患者登记册和药品登记册）相关联。结果表明，在不同的结果中，CP 患者被诊断为精神障碍和获得精神药物治疗的概率明显高于非 CP 患者 [OR = 1.52-4.7]。在一些精神和神经发育障碍方面，包括睡眠障碍、自闭症和多动症，以及抗焦虑药和镇静剂的使用方面，在儿童时期就已经存在很大差距。然而，精神疾病的额外负担似乎在整个生命过程中都在增加，这表明患有CP的成年人可能是一个特别弱势的群体。精神障碍的诊断和精神药物的分配与残疾的具体因素（尤其是交流和智力功能）并不一致，这表明有必要在对患有脊髓灰质炎的个人进行精神保健时采用系统的方法。

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引用次数: 0

Integrated hip surveillance pathways for pain, function and quality of life in children with Cerebral Palsy: A systematic literature review 针对脑瘫儿童疼痛、功能和生活质量的综合髋关节监测路径：系统性文献综述。

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2024-11-01 DOI: 10.1016/j.ejpn.2024.10.012

Tanya M. McGrath , Shea T. Palmer

Aim

To determine the effectiveness of integrated hip surveillance pathways on pain, function and quality of life (QOL) in children with Cerebral Palsy (CP).

Method

A systematic literature review, designed, conducted and reported using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses. Inclusion criteria: confirmed CP diagnosis, management under recognised international hip surveillance pathways, outcome measures of hip displacement plus at least one other relevant to pain, function or QOL.

Results

100 articles were identified. 12 full text articles were screened, and four were included. Reduced range of movement was associated with hip pain in children with CP. Increasing age, Gross Motor Function Classification Score (GMFCS) and migration percentage (MP) were associated with increased hip pain. General health declined with increased age. Increased MP and GMFCS level were associated with interruption to activities of daily living.

Interpretation

Outcomes relating to function and QOL are under-researched in the current integrated hip surveillance pathway evidence-base. Wider outcomes related to function and QOL need to be included to capture the wider impact on children who are at risk of hip dislocation.

What this paper adds

Increased pain was associated with reduced joint range and increased migration percentage. Pain also increased with greater age and Gross Motor Function Classification Score. Early orthopaedic intervention for hip displacement may not successfully mitigate pain. Effectiveness of integrated pathways on function and quality of life is under-evidenced. Studies investigating integrated pathways and holistic outcomes are needed to inform practice.

目的：确定综合髋关节监测路径对脑瘫（CP）儿童疼痛、功能和生活质量（QOL）的影响：纳入标准：确诊为 CP，根据公认的国际髋关节监测路径进行管理，髋关节移位的结果测量，以及至少一项与疼痛、功能或 QOL 相关的结果测量：结果：共发现 100 篇文章。筛选出 12 篇全文文章，其中 4 篇被收录。CP患儿髋关节活动范围减少与髋关节疼痛有关。年龄、粗大运动功能分类评分（GMFCS）和迁移百分比（MP）的增加与髋关节疼痛的增加有关。总体健康状况随着年龄的增长而下降。MP和GMFCS水平的增加与日常生活活动的中断有关：在目前的髋关节综合监测路径证据库中，与功能和 QOL 相关的结果研究不足。需要纳入与功能和QOL相关的更广泛结果，以捕捉对有髋关节脱位风险的儿童的更广泛影响：疼痛加剧与关节活动范围缩小和移位百分比增加有关。年龄越大，粗大运动功能分类评分越高，疼痛感也越强。髋关节移位的早期矫形干预可能无法成功缓解疼痛。综合治疗路径对功能和生活质量的影响尚未得到充分验证。需要对综合路径和整体效果进行调查研究，为实践提供参考。

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引用次数: 0

Diagnosis of fetal alcohol spectrum disorders: German guideline version 2024 胎儿酒精谱系障碍的诊断：德国指南 2024 版。

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2024-11-01 DOI: 10.1016/j.ejpn.2024.11.002

MN Landgraf , C Schmucker , F Heinen , A Ziegler , I Kopp , S Strieker

引用次数: 0

Reassuring neuropsychological outcome data in myelin oligodendrocyte glycoprotein antibody-associated disease 髓鞘少突胶质细胞糖蛋白抗体相关疾病的神经心理学结果数据令人欣慰。

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2024-11-01 DOI: 10.1016/j.ejpn.2024.10.002

Sarah R. Rudebeck, Michael Eyre

引用次数: 0

Ketogenic diet registry for epilepsy: A cross-sectional feasibility study 生酮饮食治疗癫痫登记：横断面可行性研究

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2024-11-01 DOI: 10.1016/j.ejpn.2024.10.011

Elizabeth G. Neal , Victoria J. Whiteley , Elles van der Louw , Anita M. Devlin , Christin Eltze , Suresh Pujar , Zoe Simpson , Isobel Hardy , Alison Palmer , Agnieszka Szmurlo , Alasdair PJ. Parker , Nicole Mills , Ruth Ord , Lieven Lagae , Kristel Vande Kerckhove , Sarita van den Berg , J Helen Cross , Natasha E. Schoeler

We aimed to develop a registry (‘Keto-Reg’) for individuals with epilepsy referred for ketogenic dietary therapy (KDT) and to test feasibility of its implementation. The purpose of the registry is to provide a platform for collaborative research to answer specific research questions regarding long-term clinical and safety outcomes and to identify the most suitable candidates for KDT.

Registry data items were determined via an international Delphi survey of KDT healthcare professionals, and then entered into an electronic platform. Three UK and two other European KDT centres entered data for 10 ‘patients’ and reported on its acceptability and feasibility of use via questionnaire. 25 % of data was validated against medical records. A national survey was distributed and 19 parents and four young people were interviewed about a potential future patient/family section to the registry.

Healthcare professionals from six continents responded to the Delphi (n = 153 round 1, n = 79 round 2); 70 items reached the agreement threshold. Registry data entry was accurate (0.3 % errors identified) and reported to be feasible and acceptable in the short-term. Lack of time was identified as the main barrier to longer-term implementation, with funded hours required. 87 % of the 53 survey responders and all interviewees viewed a patient/family section to be positive and feasible.

We have shown healthcare professional involvement in Keto-Reg to be feasible in the short-term, and have identified what is necessary for the next stage: prospective longitudinal data entry from a larger number of international centres.

我们的目标是为转诊接受生酮饮食疗法（KDT）的癫痫患者建立一个登记处（"Keto-Reg"），并测试其实施的可行性。注册表的目的是为合作研究提供一个平台，以回答有关长期临床和安全结果的具体研究问题，并确定最适合接受生酮饮食疗法的患者。注册表的数据项是通过一项针对生酮饮食疗法医护人员的国际德尔菲调查确定的，然后输入电子平台。英国的三家 KDT 中心和欧洲的另外两家 KDT 中心输入了 10 名 "患者 "的数据，并通过问卷调查报告了数据的可接受性和使用可行性。25%的数据与医疗记录进行了验证。来自六大洲的医疗保健专业人员对德尔菲法（第一轮 153 人，第二轮 79 人）做出了回应；70 个项目达到了一致同意的临界值。登记册数据录入准确无误（0.3% 的错误被确认），据报告短期内可行且可接受。缺乏时间被认为是长期实施的主要障碍，需要资助时间。我们已经证明了医护人员参与 Keto-Reg 在短期内是可行的，并确定了下一阶段的必要条件：从更多的国际中心进行前瞻性纵向数据录入。

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引用次数: 0

The development of checklists and reference charts for activities of daily living of normal developing children 为发育正常儿童的日常生活活动编制核对表和参考图表

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2024-10-15 DOI: 10.1016/j.ejpn.2024.10.008

Agnese Suppiej , Laura Tessari , Adriano Fasolo , Martina Casarotto , Carlotta Borghini , Dario Gregori , Elena Mercuriali

Aim

To measure the performance in activities of daily living and obtain reference charts in normal developing children.

Method

This is a cross-sectional survey study. We identified relevant items suitable to describe a wide range of daily life activities and set up a self-administered questionnaire. An initial set of items underwent a correlation analysis integrated with clinical judgment, to remove those items providing limited additional information. Factor analysis was used to identify latent variables, enabling the grouping of selected items into specific skill-related areas. For each latent variable, a model was developed to represent the progression of performance in activities of daily living as the child advanced in age.

Results

We collected data related to 3079 children, 1478 females and 1601 males, of median (IQR) 10.7 (7.2) years of age. The initial 268-item set was reduced to 154-item related to 14 domains and gathered into 30 latent variables.

Interpretation

The results describe the age-related performance in activities of daily living and produce reference values associated to an Italian population of normal children less than 18 years of age.

方法这是一项横断面调查研究。我们确定了适合描述各种日常生活活动的相关项目，并编制了一份自填式问卷。我们结合临床判断对最初的一组项目进行了相关性分析，以剔除那些能提供有限附加信息的项目。因子分析用于确定潜在变量，从而将选定的项目归入特定的技能相关领域。我们收集了 3079 名儿童的相关数据，其中女性 1478 名，男性 1601 名，年龄中位数（IQR）为 10.7（7.2）岁。结果描述了与年龄相关的日常生活能力，并得出了与意大利 18 岁以下正常儿童相关的参考值。

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引用次数: 0

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2024-10-12 DOI: 10.1016/j.ejpn.2024.10.007

Flávia Nardes , Alexandra Prufer de Queiroz Campos Araújo , Sofia Russi , Sarah Falcão Brasileiro Henriques

Duchenne muscular dystrophy is a progressive and fatal X-linked neuromuscular disease. Emergent disease-modifying therapy (DMT) in nonsense Duchenne muscular dystrophy (nmDMD) has brought new perspectives to slow down functional decline in this fatal disease. To investigate if there are differences in natural history between nmDMD and other genotypes, we described a retrospective cohort analysis of 25 nonsense mutation DMD (nmDMD) boys without disease-modifying therapy, aged between 1 and 22 years, over the last 15 years (2007–2022) in a single neuromuscular center in Rio de Janeiro and use published data on DMD natural history for comparison. Regarding prognostic factors, there were remarkable and statistically significant early loss of ambulation (at 9.1y ±2.1) and shortening of life expectancy (17.6y ±2.1) in our nmDMD group. Late acquisition of neurodevelopmental milestones and annual rates of decline in respiratory, cardiac, and timed motor function tests are the same between nmDMD patients with standard care and other DMD genotypes as described in the literature. Our data indicates the similarity of natural history and disease progression among DMD boys with nmDMD mutations compared to different mutations.

杜兴氏肌营养不良症是一种进行性和致命的 X 连锁神经肌肉疾病。无义杜氏肌营养不良症（nmDMD）新出现的疾病修饰疗法（DMT）为减缓这种致命疾病的功能衰退带来了新的视角。为了研究 nmDM 和其他基因型的自然病史是否存在差异，我们对里约热内卢一家神经肌肉中心过去 15 年（2007-2022 年）中 25 名年龄在 1-22 岁之间、未接受过疾病修饰治疗的无义突变 DMD（nmDMD）男孩进行了回顾性队列分析，并使用已发表的 DMD 自然病史数据进行比较。关于预后因素，在我们的 nmDM 组中，早期丧失行走能力（9.1 岁 ±2.1 岁）和预期寿命缩短（17.6 岁 ±2.1 岁）的情况显著，并具有统计学意义。接受标准治疗的 nmDMD 患者与文献中描述的其他 DMD 基因型患者在神经发育里程碑的后期获得情况以及呼吸、心脏和定时运动功能测试的年下降率相同。我们的数据表明，与其他基因突变相比，nmDMD 基因突变的 DMD 男孩的自然病史和疾病进展具有相似性。

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Report from the child neurology education and training workshop at the International Child Neurology Congress 2024: Expert's addressing the training gap 2024 年国际儿童神经病学大会儿童神经病学教育和培训研讨会报告：专家解决培训缺口问题。

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2024-10-11 DOI: 10.1016/j.ejpn.2024.10.004

Jo M. Wilmshurst , Dara VF. Albert , Asif Doja , Jaime Carrizosa , Arushi Gahlot Saini , Juhi Gupta , Samson Gwer , Charles Hammond , Naoko Ishihara , Charuta Joshi , Edward Kija , Mubeen Fatima Rafay , Robert Sebunya , Esra Serdaroglu , Jorge Vidaurre , Jithanghi Wanigasinghe , Archana A. Patel

This report summarizes the key findings of a workshop undertaken at the International Child Neurology Congress in 2024 by child neurologists with expertise in training education and invested colleagues. The workshop aimed to explore global issues which have impact on access to child neurology training. The major findings supported a great need for more training programs globally, that consensus is needed for the minimum standards of training, and that training programs can be strengthened via global health partnerships especially with collaborations from regions with more available resources. The group concurred that the phenomena of ‘neurophobia’ amongst general paediatricians and medical trainees, was a reality, and creates barriers both working with paediatric colleagues, as well as recruiting specialists to the field. Optimal teaching practices for child neurology should include the expansion of learning through global partnerships and virtual educational resources. Measures must be put into place for fledgling training programs, to support colleagues in less resourced settings and to avoid their burn-out. Collegial and collaborative work is essential to support the future of child neurology across the globe, both to reach the current capacity needs but also to meet the necessary growth in the field.

本报告总结了在 2024 年国际儿童神经病学大会上，由具有培训教育专业知识的儿童神经病学家和受邀同行举办的研讨会的主要成果。研讨会旨在探讨影响儿童神经病学培训机会的全球性问题。研讨会的主要结论是，全球亟需更多的培训项目，需要就培训的最低标准达成共识，培训项目可以通过全球卫生合作伙伴关系得到加强，特别是与资源丰富的地区合作。专家组一致认为，普通儿科医生和医学学员中存在的 "神经恐惧症 "现象是现实存在的，这既阻碍了与儿科同行的合作，也阻碍了该领域的专家招聘。儿童神经病学的最佳教学实践应包括通过全球伙伴关系和虚拟教育资源扩大学习范围。必须为刚刚起步的培训计划制定措施，为资源较少环境中的同事提供支持，避免他们疲于奔命。为了支持全球儿童神经病学的未来发展，同事间的合作与协作是必不可少的，这既是为了满足当前的能力需求，也是为了满足该领域的必要增长。

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