European Journal of Paediatric Neurology最新文献

英文中文

Evolution of neuroimaging features in children with acute flaccid myelitis compared to other forms of childhood myelitis 与其他形式的儿童脊髓炎相比，急性弛缓性脊髓炎儿童神经影像学特征的演变。

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-09-25 DOI: 10.1016/j.ejpn.2025.09.002

Guido Goj , Jelte Helfferich , Ines El Naggar , Ulrike Noßwitz , Eva Bültmann , Deiva Kumaran , Jena Chung , Ariane Biebl , Leon Steigleder , Dorothea Holzwarth , Eva-Maria Wendel , Andrea Bevot , Hannes Andreas Nobel , Jan G. Hengstler , Robert Cleaveland , Andreas Panzer , K. Rostasy

Background

Acute flaccid myelitis (AFM) is characterized by acute onset of flaccid limb weakness, MRI abnormalities in the spinal cord grey matter and CSF pleocytosis often associated with enterovirus infections. MOG-associated diseases (MOGAD) can manifest with similar neuroradilogical features.

Objective

To analyze MRI findings in patients with AFM at baseline and follow-up in comparison to other forms of childhood transverse myelitis such as MOGAD.

Patients and methods

Children from 11 European centers who fulfilled the clinical criteria of AFM were included. Brain and spinal MRI was performed at various stages of the disease course. MRI scans were evaluated using a previously established scoring table and compared with MRI scans of a recently published cohort of children with different forms of transverse myelitis including MOGAD.

Results

We included 15 patients (8 females, 7 males, age range: 9 months-9,11 years). In 10/15 patients enterovirus was detected in respiratory/rectal specimens. At first presentation 13/15 patients presented with a longitudinal extensive transverse myelitis like involvement. Cervical grey matter was involved in almost all children. Axial involvement either manifested as grey matter alone or a mixture of white matter and grey matter hyperintensity in T2. Nerve root enhancement was found in 2/15 and leptomeningeal enhancement in 1/15 patients. 5/15 children had brainstem lesions. Follow-up MRI revealed residual T2 hyperintensities in 7/11 patients. Compared to patients with MOGAD AFM patients showed equally good resolution of MRI lesions overtime.

Conclusion

Longitudinal spinal cord lesions mainly affecting the grey matter are characteristic of AFM whereas supratentorial lesions are less common. There is no significant difference between AFM and MOGAD concerning the resolution of lesions overtime.

背景：急性弛缓性脊髓炎（AFM）的特征是急性发作的弛缓性肢体无力，脊髓灰质MRI异常和脑脊液多细胞增多常与肠病毒感染有关。mog相关疾病（MOGAD）可以表现出类似的神经影像学特征。目的：分析AFM患者在基线和随访时的MRI表现，并与其他形式的儿童横贯脊髓炎（如MOGAD）进行比较。患者和方法：来自11个欧洲中心的符合AFM临床标准的儿童被纳入研究。在病程的各个阶段进行脑和脊柱MRI检查。MRI扫描使用先前建立的计分表进行评估，并与最近发表的不同形式横贯脊髓炎（包括MOGAD）儿童队列的MRI扫描进行比较。结果：我们纳入了15例患者，其中女性8例，男性7例，年龄范围：9个月，9岁，11岁。10/15例患者呼吸道/直肠标本检出肠道病毒。初次发病时，13/15的患者表现为纵向广泛的横向脊髓炎样受累。几乎所有儿童都涉及宫颈灰质。轴向受累表现为单独的灰质或在T2表现为白质和灰质高信号。2/15的患者有神经根增强，1/15的患者有轻脑膜增强。5/15患儿脑干病变。随访MRI显示7/11例患者残留T2高信号。与MOGAD患者相比，AFM患者表现出同样好的MRI病变消退。结论：主要影响灰质的脊髓纵向病变是AFM的特征，而幕上病变较少见。AFM和MOGAD在病变随时间消退方面无显著差异。

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引用次数: 0

Determinants of long-term health-related quality of life in paediatric traumatic brain injury 儿童外伤性脑损伤患者长期健康相关生活质量的决定因素

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-09-24 DOI: 10.1016/j.ejpn.2025.09.003

Sophie M. Coffeng , Harm J. van der Horn , Manon L. Out , Zwany Metting , Roos M.D. van der Jagt , Joukje van der Naalt

Introduction

Information on health-related quality of life (HRQoL) after traumatic brain injury (TBI) for paediatric patients is scarce. Therefore, the aim of this study was to determine HRQoL and its risk factors in children several years after TBI.

Methodology

Data were obtained from a prospectively follow-up cohort study of paediatric TBI patients (aged 0–18 years) admitted to the emergency department of the UMCG between 2008 and 2016. Long-term HRQoL was measured by the PedsQL 4.0 questionnaire. Patient and trauma characteristics were collected from digital patient files and posttraumatic complaints were evaluated by a health questionnaire.

Results

416 children completed the PedsQL and the health questionnaire (17 % minor TBI, 65 % mild TBI, 8 % moderate TBI, and 10 % severe TBI). 52 % Of the children experienced long-term concentration problems, 52 % headache problems and 39 % memory problems. Memory problems were more present in the moderate-severe TBI group (p < 0.01). The mean total PedsQL score for the total group of children was good: 84.8 ± 13.3 (SD) with a comparable score for parent-proxies (84.5 ± 14.0). Lower HRQoL was associated with lower GCS score at the ED (B 0.31 (95% CI 0.02 to 0.59)), posttraumatic memory problems (B −6.97 (95% CI -9.66 to −4.28)), concentration problems (B −6.76 (95% CI -9.36 to −4.15) and headache (B −4.06 (95% CI -6.33 to −1.78)).

Conclusions

Most paediatric TBI patients score their HRQoL as good several years after injury despite posttraumatic cognitive complaints and headache experienced by half of the patients. These complaints and lower GCS score have a negative influence on HRQoL.

关于儿童创伤性脑损伤（TBI）后健康相关生活质量（HRQoL）的信息很少。因此，本研究的目的是确定创伤后几年儿童的HRQoL及其危险因素。方法：数据来自一项前瞻性随访队列研究，研究对象是2008年至2016年间在UMCG急诊科住院的儿科TBI患者（0-18岁）。采用PedsQL 4.0问卷测量长期HRQoL。从数字患者档案中收集患者和创伤特征，并通过健康问卷评估创伤后投诉。结果：416名儿童完成了PedsQL和健康问卷（17%为轻度TBI， 65%为轻度TBI， 8%为中度TBI， 10%为重度TBI）。52%的儿童出现长期注意力问题，52%出现头痛问题，39%出现记忆力问题。结论：大多数儿童TBI患者在损伤后几年的HRQoL评分良好，尽管有一半的患者出现创伤后认知障碍和头痛。这些抱怨和较低的GCS评分对HRQoL有负面影响。

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引用次数: 0

The ins and outs of glycopyrronium treatment for paediatric drooling: exploring the treatment journey using real-world data glycopyronium治疗小儿流口水的来龙去脉：利用真实世界的数据探索治疗之旅

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-09-07 DOI: 10.1016/j.ejpn.2025.09.001

Lynn B. Orriëns , Karen van Hulst , Joyce M. Geelen , Frank J.A. van den Hoogen , Anne T.M. Dittrich , Michèl A.A.P. Willemsen , Corrie E. Erasmus

Introduction

Anticholinergic medication is an important treatment option for paediatric drooling. We explored the practical application of glycopyrronium, an anticholinergic medicine registered for the paediatric population, focusing on treatment patterns, effectiveness and impact, adverse drug reactions (ADRs), and caregiver satisfaction.

Methods

A longitudinal, observational study was performed, including 22 children (3–18 years) newly treated with glycopyrronium for anterior and/or posterior drooling in our tertiary children's hospital between November 2020 and February 2024. We assessed a verbal numerical rating scale for drooling severity, Drooling Severity and Frequency Scale (DSFS), Measure of Performance and Satisfaction for Saliva Control (MPS), prevalence of ADRs, and dosage adjustments.

Results

At baseline, drooling was typically profuse and occurred frequently to constantly. The majority of children (86 %) took glycopyrronium thrice daily, with dose titration tailored to each child and medication primarily administered with food (56 %). A clinically important reduction in DSFS was observed in 53 % at the first follow-up appointment. Correspondingly, median MPS scores increased from 0.0 at baseline to 5.6 at follow-up (p < .001) (0 = not dry; 10 = perfectly dry), indicating improved saliva control in situations impacted by drooling. ADRs were reported in 73 %, leading to treatment cessation in 36 %, primarily due to gastrointestinal issues and behavioural changes.

Conclusions

Our findings confirm the applicability of glycopyrronium under real-world conditions, complementing results from studies with more rigid designs. Insights into inter-individual differences in dose titration, timing of medication administration, and changes in effect or ADRs over time highlight the relevance of a tailored treatment approach.

抗胆碱能药物是治疗小儿流口水的重要选择。我们探讨了glycopyronium的实际应用，这是一种注册用于儿科人群的抗胆碱能药物，重点关注治疗模式、有效性和影响、药物不良反应（adr）和护理人员满意度。方法对2020年11月至2024年2月在我院三级儿童医院新接受glycopyronium治疗前/后流口水的22例儿童（3-18岁）进行纵向观察研究。我们评估了流口水严重程度的口头数字评定量表、流口水严重程度和频率量表（DSFS）、唾液控制的表现和满意度测量（MPS）、不良反应的发生率和剂量调整。结果基线时，流口水多，频繁至持续发生。大多数儿童（86%）每天服用三次吡氯硝铵，剂量滴定适合每个儿童，药物主要与食物一起给药（56%）。在第一次随访预约时，DSFS的临床重要降低为53%。相应的，MPS评分中位数从基线时的0.0增加到随访时的5.6 (p < .001)（0 =不干；10 =完全干），表明在流口水影响的情况下，唾液控制得到改善。73%的患者报告了不良反应，36%的患者停止治疗，主要是由于胃肠道问题和行为改变。结论本研究结果证实了glycopyronium在实际条件下的适用性，补充了更严格设计的研究结果。对剂量滴定、给药时间、效果或不良反应随时间变化的个体差异的见解，突出了量身定制治疗方法的相关性。

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引用次数: 0

Limb girdle muscular dystrophies: striving to bridge a diagnostic gap 肢带肌营养不良：努力弥合诊断差距。

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-09-01 DOI: 10.1016/j.ejpn.2025.08.004

George Konstantinos Papadimas

引用次数: 0

CSF IL-6 in pediatric neuroinflammation: Diagnosing disease or driving therapy? CSF IL-6在小儿神经炎症中的作用：诊断疾病还是驱动治疗？

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-09-01 DOI: 10.1016/j.ejpn.2025.08.007

Kumaran Deiva

引用次数: 0

Deepening the understanding of mechanisms of antiepileptic effects of the ketogenic diet in children with AFG2A-related encephalopathy 加深对生酮饮食对afg2a相关脑病患儿抗癫痫作用机制的认识。

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-09-01 DOI: 10.1016/j.ejpn.2025.08.003

Coriene Catsman-Berrevoets

引用次数: 0

Improving understanding of long-term cognitive recovery after childhood ischemic stroke 提高对儿童缺血性脑卒中后长期认知恢复的认识。

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-09-01 DOI: 10.1016/j.ejpn.2025.08.006

Christine K. Fox

引用次数: 0

Mid-to long-term disability and functional outcomes in pediatric patients with monophasic acute disseminated encephalomyelitis 儿童单相急性播散性脑脊髓炎患者的中长期残疾和功能结局

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-09-01 DOI: 10.1016/j.ejpn.2025.08.008

Lorna Stemberger Marić , Vladimir Trkulja , Andrea Nikčević , Goran Tešović

Background

Acute disseminated encephalomyelitis (ADEM) is a rare disease characterized by encephalopathy, polyfocal symptoms and demyelination. Although its prognosis is generally favorable, there is growing evidence that subtle neuropsychological and motoric sequelae may persist years after the initial episode.

Aim

To assess the relationship between clinical, laboratory and radiological characteristics of the acute monophasic ADEM episode in children, and its immediate outcome, and long(er) term disability/functional status.

Methods

Retrospective chart review embraced all children managed for monophasic ADEM over 18 years at a single tertiary center. They were invited for a follow-up medical, neurological assessment, and disability/functional outcomes assessment [modified Rankin scale (mRS), Extended Disability Status Scale and Functional Systems Scores (EDSS-FSS)].

Results

Of the 65 children (age 10–250 months, median 90; 46.2 % boys), 40 (61.5 %) were judged as fully recovered, and 25 had sequelae, two of whom (aged 23 and 13 months) suffered severe ocular or cortical symptoms. Follow-up assessment 21–211 months (median 154) after hospital discharge embraced 41 children, 27 discharged as recovered, 14 with sequelae. Of the latter, the two children with severe sequelae were seriously disabled with decrease in mentation, while 11/14 had mRS 0, and EDSS-FSS 0. Of the former, 7 had mRS = 1 and one had mRS = 2, whereas 5 had EDSS-FSS = 2, and 2 had EDSS-FSS = 3, including 2 children with mood alterations and 2 with mild decrease in mentation.

Conclusions

Unless truly severe, acute episode sequelae do not predict long-term disability/functional deficiency. Children recovered after the acute episode may have mild symptoms/deficiencies in long term.

背景：急性播散性脑脊髓炎（ADEM）是一种罕见的疾病，以脑病、多灶性症状和脱髓鞘为特征。尽管其预后通常良好，但越来越多的证据表明，轻微的神经心理和运动后遗症可能在首发发作后持续数年。目的评估儿童急性单相ADEM发作的临床、实验室和影像学特征及其直接预后与长期残疾/功能状态之间的关系。方法回顾性回顾所有在单一三级中心治疗18年以上单相ADEM的儿童。他们被邀请进行随访医学、神经学评估和残疾/功能结局评估[修正兰金量表（mRS）、扩展残疾状态量表和功能系统评分（EDSS-FSS）]。结果65例患儿（年龄10-250个月，中位90个月，男孩占46.2%），40例（61.5%）完全康复，25例有后遗症，其中2例（年龄23个月和13个月）有严重的眼部或皮质症状。41例患儿出院后随访21-211个月（中位154个月），27例康复出院，14例有后遗症。其中2例严重后遗症患儿严重残疾，智力下降，11/14 mRS为0，EDSS-FSS为0。其中mRS = 1的有7例，mRS = 2的有1例，EDSS-FSS = 2的有5例，EDSS-FSS = 3的有2例，其中2例有情绪改变，2例有轻度的精神状态下降。结论非真正严重的急性发作后遗症不能预测长期残疾/功能缺陷。急性发作后恢复的儿童长期可能有轻微的症状/缺陷。

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引用次数: 0

Mortality in Tuberous sclerosis Complex: Current understandings 结节性硬化症复合体的死亡率：目前的认识

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-08-11 DOI: 10.1016/j.ejpn.2025.08.002

Rowan Pentz , Lauren Sham , Maria Zak , Katherine Muir , Elisabetta Trinari , Elizabeth J. Donner , Maryam N. Nouri , Robyn Whitney

Background

Tuberous Sclerosis Complex (TSC) is a multisystemic neurocutaneous disorder caused by pathogenic loss of function variants in the tumour suppressor genes TSC1 and TSC2. The resultant hamartomas confer significant medical risks by disruption of local tissues. Risk of mortality in TSC is known to be elevated, but only recently have multiple studies assessed specific causes of mortality in TSC.

Methods

A critical literature review of all available studies examining mortality in TSC was conducted using the terms “TSC”, “Tuberous Sclerosis Complex”, “mortality”, “death”, and “life expectancy”, in PubMed and Google Scholar, until December 15, 2024.

Results

We identified 13 studies that reported a total of 411 deaths from 6735 TSC individuals. Data were typically incomplete and causes of death in many cases were obtained from death certificates. Crude mortality per 100 individuals ranged from 1.4 to 13.8 over average intervals of 11–45 years. Standardized Mortality Ratios or hazard ratios (versus control group) ranged from 3.0 to 4.9 (mean 4.3). Mean life expectancy was 66.2 years compared to an average of 81.8 in the general population. In the seven studies that reported specific causes of mortality in the general TSC population, 6/7 studies (85 %) had renal or central nervous system disease as the most common cause of mortality. Lymphangioleiomyomatosis was also found to confer significant risk of mortality in adult women and cardiac rhabdomyomas were the dominant cause of neonatal mortality. TSC-associated neuropsychiatric disorders-related mortality and morbidity may be underestimated.

Conclusion

Mortality in TSC is elevated compared to the general population, with central nervous system and renal disease most frequently culpable. Further cohort studies will be required to establish and characterize the risk of mortality in TSC in the age of disease-modifying therapies.

结节性硬化症（TSC）是一种多系统神经皮肤疾病，由肿瘤抑制基因TSC1和TSC2功能变异的致病性丧失引起。由此产生的错构瘤由于局部组织的破坏而带来重大的医疗风险。已知TSC的死亡风险升高，但直到最近才有多项研究评估了TSC死亡的具体原因。方法对截至2024年12月15日，PubMed和谷歌Scholar上所有可用的关于TSC死亡率的研究进行批判性文献综述，检索词为“TSC”、“结节性硬化症”、“死亡率”、“死亡”和“预期寿命”。结果：我们确定了13项研究，报告了6735例TSC患者的411例死亡。数据通常是不完整的，在许多情况下，死亡原因是从死亡证明获得的。在11-45年的平均时间间隔内，每100个人的粗死亡率为1.4至13.8。标准化死亡率或危险比（相对于对照组）范围为3.0至4.9（平均4.3）。平均预期寿命为66.2岁，而普通人群的平均预期寿命为81.8岁。在报告一般TSC人群具体死亡原因的7项研究中，6/7（85%）的研究将肾脏或中枢神经系统疾病作为最常见的死亡原因。淋巴管平滑肌瘤病也被发现在成年女性中具有显著的死亡风险，心脏横纹肌瘤是新生儿死亡的主要原因。tsc相关的神经精神疾病相关的死亡率和发病率可能被低估。结论与一般人群相比，TSC的死亡率升高，中枢神经系统和肾脏疾病是最常见的罪魁祸首。需要进一步的队列研究来确定和描述TSC在疾病改善疗法时代的死亡风险。

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引用次数: 0

Rethinking the Brighton Criteria for pediatric Guillain-Barré syndrome: Toward clinical flexibility and global relevance 重新思考儿童格林-巴- <s:1>综合征的布莱顿标准：走向临床灵活性和全球相关性

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-08-06 DOI: 10.1016/j.ejpn.2025.08.001

Bassel Alrabadi, Natalie Bandak

引用次数: 0

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