European Journal of Paediatric Neurology最新文献_第5页

Type 1 spinal muscular atrophy treated with nusinersen in Norway, a five-year follow-up 挪威使用纽西奈森治疗 1 型脊髓性肌萎缩症的五年随访。

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2024-10-10 DOI: 10.1016/j.ejpn.2024.09.009

Merete Wik-Klokk , Magnhild Rasmussen , Kristin Ørstavik , Henrik Zetterberg , Milada Hagen , Marie Elizabeth Holtebekk , Anette Ramm-Pettersen , Sean Wallace

Background

New treatments for 5q spinal muscular atrophy (SMA) have led to changes in the disease phenotype. Questions about long-term efficacy, however, persist. We present the results from five-year follow-up of the first ten Norwegian patients with SMA type1 treated with nusinersen.

Methods

– Ten patients referred to the expanded access program were included. Standardized assessments with Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND), the Hammersmith Infant Neurological Examination (HINE-2), compound muscle action potential (CMAP) examination and cerebrospinal fluid analysis of neurofilament light chain (cNfL) were performed.

Result

Age at baseline ranged from three months to 11 years and eight months. Nine patients were alive and continued to receive treatment at 62 months of follow-up. CHOP INTEND scores increased significantly up to 38 months. Any further increase from 38 to 50 months was not statistically significant, and scores remained almost unchanged from 50 to 62 months. HINE-2 scores increased but the difference from baseline never reached statistical significance.

The youngest patients showed the best motor outcome. The changes in CMAP scores were not statistically significant. cNfL values were significantly reduced after 18 months compared with baseline; the largest difference occurred between baseline and 6 months. There was a significant negative correlation between log cNfL and CHOP INTEND (p = 0.042). Bulbar and respiratory function did not improve during the observation period.

Conclusion

Our findings support previously reported results on efficacy and safety of nusinersen. All patients have shown improvement in motor function. The need of respiratory and nutritional support did not improve.

背景：5q脊髓性肌萎缩症（SMA）的新疗法改变了疾病的表型。然而，有关长期疗效的问题依然存在。我们介绍了对首批接受纽西奈森治疗的 10 名挪威 1 型 SMA 患者进行五年随访的结果。通过费城儿童医院神经肌肉疾病婴儿测试（CHOP INTEND）、哈默史密斯婴儿神经检查（HINE-2）、复合肌肉动作电位（CMAP）检查和神经丝蛋白轻链（cNfL）脑脊液分析进行了标准化评估：结果：基线年龄从 3 个月到 11 岁零 8 个月不等。随访 62 个月时，仍有 9 名患者存活并继续接受治疗。CHOP INTEND评分在38个月内显著增加。在 38 个月至 50 个月期间，任何进一步的增加都没有统计学意义，而在 50 个月至 62 个月期间，得分几乎保持不变。HINE-2评分有所上升，但与基线的差异从未达到统计学意义。最年轻的患者运动效果最好。18个月后，cNfL值与基线相比显著降低；最大的差异出现在基线和6个月之间。cNfL 对数值与 CHOP INTEND 之间存在明显的负相关（p = 0.042）。在观察期间，肺泡和呼吸功能没有改善：我们的研究结果支持之前报道的纽西奈森的疗效和安全性。所有患者的运动功能都有所改善。对呼吸和营养支持的需求没有改善。

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引用次数: 0

Cost-effective diagnosis for children with developmental and epileptic encephalopathy phenotype 对具有发育和癫痫脑病表型的儿童进行具有成本效益的诊断

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2024-10-09 DOI: 10.1016/j.ejpn.2024.10.006

Prateek Kumar Panda, Indar Kumar Sharawat

引用次数: 0

Multicentric Pediatric Stroke Code: Insight to the first years after implementation 多中心儿科卒中规范：实施后最初几年的启示

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2024-10-09 DOI: 10.1016/j.ejpn.2024.10.001

Ana Jové-Blanco , José Antonio Ruiz Domínguez , Aranzazu Flavia González-Posada Flores , Luisa Barón González de Suso , María de Ceano-Vivas la Calle , Cristina Verdú Sánchez , Pilar Tirado Requero , Blanca Fuentes Gimeno , Cristina Utrilla Contreras , Lidia Oviedo-Melgares , Noemí Núñez Enamorado , Ana Martínez de Aragón , Débora Sanz Álvarez , Yolanda Ruiz Martín , Antonio Carmelo Gil Nuñez , Pedro de Castro de Castro , María Vázquez-López

Background

The development of unicentric pediatric acute stroke protocols has improved stroke diagnosis and treatment. The impact of the implementation of a multicentric Pediatric Stroke Code (PSC) remains unknown.

Aim

to describe the characteristics of the PSC activations and identify clinical features associated with stroke compared to stroke mimics in children in whom a multicentric PSC had been activated and compare them to reported monocentric PSC results.

Methods

Observational, retrospective, case and control multicentric study, performed in the Pediatric Emergency Department (PED) of the three Primary Pediatric Stroke Centers (PPSCs) in Madrid (Spain). Study population corresponded to children between 28 days and 16 years old in whom PSC was activated that consulted or were referred to any of the PPSC PED between March 2019 and June 2022. The main outcome was to compare the characteristics of patients with final diagnosis of stroke versus stroke mimics, among all patients for which PSC had been activated. Logistic regression modeling was used to investigate associations between independent variables and stroke diagnosis. Odds ratio (ORs) and 95 % confidence intervals (95%CIs) were estimated.

Results

PSC was activated in 196 patients. Stroke was confirmed in 39 patients (19.9 %): 20 (10.2 %) had an ischemic stroke and 19 (9.7 %) a hemorrhagic stroke. Stroke mimics represented 80.1 % of the PSC activations. Migraine was the most frequent stroke mimic (38.3 %). Time from symptom onset to brain imaging was 233.00 min (IQR 153.00–373.00) when patients self-presented at the PPSC compared to 231.00 min (IQR 129.00–400.00) when PSC was triggered at other settings (p0.580). Five patients (25.3 %) were eligible for hyperacute recanalization treatment. Low level of consciousness (OR4.373, 95%IC 0.247–0.652, p < 0.001), sensory disruption/motor disability of face/limbs (OR3.633, 95%IC 0.103–0.349, p < 0.001), aphasia (OR2.311, 95%IC 0.023–0.284, p0.022) and altered mental status (OR2.517, 95%IC 0.043–0.357, p0.013) were associated with an increased probability of stroke.

Conclusion

multicentric PSC achieved similar results to previously reported unicentric PSCs, showing the feasibility of such an organization.

背景单中心儿科急性卒中方案的制定改善了卒中的诊断和治疗。方法在马德里（西班牙）三家初级儿科卒中中心（PPSCs）的儿科急诊科（PED）进行的观察性、回顾性、病例和对照多中心研究。研究对象是在2019年3月至2022年6月期间在三家初级儿科卒中中心的任何一家儿科急诊科就诊或转诊的28天至16岁激活了PSC的儿童。主要研究结果是比较所有已激活 PSC 的患者中最终诊断为中风与中风模拟患者的特征。逻辑回归模型用于研究独立变量与中风诊断之间的关联。结果 196 名患者激活了 PSC。39名患者（19.9%）确诊为中风：20名（10.2%）为缺血性中风，19名（9.7%）为出血性中风。模拟中风的患者占 PSC 激活患者的 80.1%。偏头痛是最常见的中风模拟症状（38.3%）。从症状发作到脑部成像的时间，患者自行到 PPSC 就诊时为 233.00 分钟（IQR 153.00-373.00），而在其他场所触发 PSC 时为 231.00 分钟（IQR 129.00-400.00）（P0.580）。五名患者（25.3%）符合超急性再通治疗条件。低意识水平（OR4.373，95%IC 0.247-0.652，p <0.001）、面部/肢体感觉障碍/运动障碍（OR3.633，95%IC 0.103-0.349，p <0.001）、失语（OR2.311，95%IC 0.023-0.284，p0.022）和精神状态改变（OR2.517，95%IC 0.043-0.357，p0.013）与中风概率增加有关。结论多中心 PSC 取得了与之前报道的单中心 PSC 相似的结果，显示了这种组织的可行性。

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引用次数: 0

Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature YWHAG变体导致的发育性和癫痫性脑病56：12例新病例和文献综述

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2024-10-09 DOI: 10.1016/j.ejpn.2024.10.005

Maria Eugenia Amato , Sol Balsells , Loreto Martorell , Adrián Alcalá San Martín , Karen Ansell , Malene Landbo Børresen , Heather Johnson , Christian Korff , Stephanie Garcia-Tarodo , Jeremie Lefranc , Anne-Sophie Denommé-Pichon , Elisabeth Sarrazin , Nora Zsuzsanna Szabo , Jorge M. Saraiva , Dorota Wicher , Anne Goverde , Karen G.C.B. Bindels-de Heus , Tahsin Stefan Barakat , Juan Darío Ortigoza-Escobar

Background and objectives

Developmental and epileptic encephalopathy 56 (DEE-56) is caused by pathogenic variants in YWHAG and is characterized by early-onset epilepsy and neurodevelopmental delay. This study reports on a cohort of DEE-56 individuals, correlating antiseizure medication usage and comorbidities, to aid in understanding disease evolution.

Methods

We analyzed data from thirty-nine individuals aged 3–40 years with YWHAG variants, including 12 previously unreported individuals (2 of these with recurrent distal 7q11.23 deletions) and 27 previously published cases (21 families, including 3 adult individuals reported in a family case). Our assessments encompassed clinical, radiological, and genetic evaluations. All procedures adhered to standardized protocols for patient approvals, registrations, and data collection.

Results

Individuals with YWHAG variants exhibited variable psychomotor delay, with the majority experiencing mild intellectual disability. Early-onset seizures, particularly febrile seizures, were common, with various seizure types reported. Valproic acid has emerged as an effective antiseizure medication. Movement disorders were present in a subset of individuals, primarily manifesting as ataxia and tremor. Comorbidities such as autism spectrum disorders and attention deficit-hyperreactivity disorder were observed in a proportion of individuals. We identified a novel YWHAG variant (c.634_645del/p.Asn212_Ser215del) and expanded the genotypic spectrum of the disease.

Conclusions

We provide insights into the clinical, radiological, and genetic features of YWHAG-related epileptic encephalopathy. Despite mild clinical symptoms, affected individuals face challenges in daily functioning, underscoring the need for comprehensive care. Valproic acid has been used for seizure control with variable results.

背景和目的发育性癫痫性脑病 56（DEE-56）是由 YWHAG 的致病变异引起的，其特点是早发性癫痫和神经发育迟缓。本研究报告了一组 DEE-56 患者的情况，并对抗癫痫药物的使用和合并症进行了相关分析，以帮助了解疾病的演变过程。方法我们分析了 39 名 3-40 岁 YWHAG 变异患者的数据，其中包括 12 名之前未报告过的患者（其中 2 名患者有复发性远端 7q11.23 缺失）和 27 名之前已发表的病例（21 个家庭，包括一个家庭病例中报告的 3 名成人患者）。我们的评估包括临床、放射学和遗传学评估。结果YWHAG变异个体表现出不同程度的精神运动发育迟缓，其中大多数人有轻度智力障碍。早发性癫痫发作，尤其是发热性癫痫发作很常见，据报道有多种发作类型。丙戊酸已成为一种有效的抗癫痫药物。部分患者存在运动障碍，主要表现为共济失调和震颤。部分患者合并自闭症谱系障碍和注意缺陷-过度反应障碍。我们发现了一种新型 YWHAG 变异体（c.634_645del/p.Asn212_Ser215del），并扩大了该病的基因型谱。尽管临床症状轻微，但患者在日常生活中仍面临挑战，因此需要全面的护理。丙戊酸一直被用于控制癫痫发作，但效果不一。

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引用次数: 0

Spatiotemporal coordination in children with unilateral cerebral palsy: Insights from a bimanual goal-directed task 单侧脑瘫儿童的时空协调能力：双臂目标定向任务的启示

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2024-10-06 DOI: 10.1016/j.ejpn.2024.10.003

Lisa Mailleux , Lisa Decraene , Alexandra Kalkantzi , Lize Kleeren , Monica Crotti , Anja Van Campenhout , Geert Verheyden , Els Ortibus , Dido Green , Katrijn Klingels , Hilde Feys

Background

In children with unilateral cerebral palsy (uCP), bimanual assessments mostly focus on qualitative assessments of the impaired upper limb during bimanual tasks, which do not capture the spatiotemporal coordination between both hands. Hence, we aimed to advance our understandings in spatiotemporal coordination in children with uCP compared to typically developing children (TDC) using a bimanual, asymmetrical, goal-directed task.

Participants and methodology

In this observational study, thirty-seven children with uCP (11y8m±2y10m, 20 males, 16 right-sided uCP, Manual Ability Classification System level I = 23, II = 11, III = 3) and 37 age and sex-matched TDC opened a box with one hand and pressed a button inside using the opposite hand. Spatiotemporal bimanual (movement time, temporal coupling, movement overlap, goal synchronisation) and unimanual (movement time, path length and smoothness) parameters were extracted. Between groups comparisons were investigated using a two-way mixed ANCOVA with age as covariate (α < 0.05). Additionally, correlation coefficients between unimanual and bimanual parameters were calculated.

Results

Compared to TDC, children with uCP were slower (p = 0.01, η_p² = 0.13) and presented unimanual spatiotemporal deficits in both upper limbs (p < 0.03, η_p²>0.10), which worsened in children with lower manual abilities (p < 0.04, η_p²>0.19). However, they did not differ in bimanual coupling (p > 0.31, η_p²<0.03). Furthermore, slower movement time was related with increased unimanual spatiotemporal deficits bilaterally (r = 0.34–0.80, p = 0.001–0.04), suggesting that reduced performance at both upper limbs contributes to bimanual difficulties in children with uCP.

Conclusions

The bilateral reduced spatiotemporal performance, related to longer bimanual movement time, stresses the importance to assess and treat both upper limbs in children with uCP.

背景在单侧脑瘫（uCP）儿童中，双臂评估大多侧重于在双臂任务中对受损上肢的定性评估，并不能捕捉到双手之间的时空协调。因此，我们希望通过一项双臂、非对称、目标导向的任务，进一步了解 uCP 儿童与发育正常儿童（TDC）相比在时空协调方面的差异。参与者和方法在这项观察性研究中，37 名患有 uCP 的儿童（11 岁 8 个月 ± 2 岁 10 个月，20 名男性，16 名右侧 uCP，手动能力分类系统 I 级 = 23，II 级 = 11，III 级 = 3）和 37 名年龄和性别匹配的 TDC 用一只手打开一个盒子，另一只手按下里面的按钮。研究人员提取了双人（运动时间、时间耦合、运动重叠、目标同步）和单人（运动时间、路径长度和平滑度）的时空参数。组间比较采用双向混合方差分析，以年龄作为协变量（α < 0.05）。结果与 TDC 相比，uCP 患儿的速度较慢（p = 0.01，ηp2 = 0.13），且双上肢均存在单指时空障碍（p <0.03，ηp2>0.10），手动能力较低的患儿情况更严重（p <0.04，ηp2>0.19）。但是，他们在双臂耦合方面没有差异（p > 0.31, ηp2<0.03）。此外，运动时间较慢与双侧单侧时空障碍增加有关（r = 0.34-0.80，p = 0.001-0.04），这表明双上肢能力下降是导致 uCP 儿童双侧运动障碍的原因之一。

{"title":"Spatiotemporal coordination in children with unilateral cerebral palsy: Insights from a bimanual goal-directed task","authors":"Lisa Mailleux , Lisa Decraene , Alexandra Kalkantzi , Lize Kleeren , Monica Crotti , Anja Van Campenhout , Geert Verheyden , Els Ortibus , Dido Green , Katrijn Klingels , Hilde Feys","doi":"10.1016/j.ejpn.2024.10.003","DOIUrl":"10.1016/j.ejpn.2024.10.003","url":null,"abstract":"<div><h3>Background</h3><div>In children with unilateral cerebral palsy (uCP), bimanual assessments mostly focus on qualitative assessments of the impaired upper limb during bimanual tasks, which do not capture the spatiotemporal coordination between both hands. Hence, we aimed to advance our understandings in spatiotemporal coordination in children with uCP compared to typically developing children (TDC) using a bimanual, asymmetrical, goal-directed task.</div></div><div><h3>Participants and methodology</h3><div>In this observational study, thirty-seven children with uCP (11y8m±2y10m, 20 males, 16 right-sided uCP, Manual Ability Classification System level I = 23, II = 11, III = 3) and 37 age and sex-matched TDC opened a box with one hand and pressed a button inside using the opposite hand. Spatiotemporal bimanual (movement time, temporal coupling, movement overlap, goal synchronisation) and unimanual (movement time, path length and smoothness) parameters were extracted. Between groups comparisons were investigated using a two-way mixed ANCOVA with age as covariate (<em>α</em> < 0.05). Additionally, correlation coefficients between unimanual and bimanual parameters were calculated.</div></div><div><h3>Results</h3><div>Compared to TDC, children with uCP were slower (p = 0.01, η<sub>p</sub><sup>2</sup> = 0.13) and presented unimanual spatiotemporal deficits in both upper limbs (p < 0.03, η<sub>p</sub><sup>2</sup>>0.10), which worsened in children with lower manual abilities (p < 0.04, η<sub>p</sub><sup>2</sup>>0.19). However, they did not differ in bimanual coupling (p > 0.31, η<sub>p</sub><sup>2</sup><0.03). Furthermore, slower movement time was related with increased unimanual spatiotemporal deficits bilaterally (r = 0.34–0.80, p = 0.001–0.04), suggesting that reduced performance at both upper limbs contributes to bimanual difficulties in children with uCP.</div></div><div><h3>Conclusions</h3><div>The bilateral reduced spatiotemporal performance, related to longer bimanual movement time, stresses the importance to assess and treat both upper limbs in children with uCP.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2024-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142442397","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

Predictive value of brain MRI for neurodevelopmental outcome in infants with severe unconjugated hyperbilirubinemia: A systematic review 脑磁共振成像对严重未结合高胆红素血症婴儿神经发育结局的预测价值：系统综述。

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2024-09-27 DOI: 10.1016/j.ejpn.2024.09.010

Noortje M. van der Meulen , Karin L. Meijers , Jeroen Dudink , Laura A. van de Pol

Context

Debate exists regarding predictive value of brain MRI for long-term neurodevelopmental outcome (NDO) in infants with severe unconjugated hyperbilirubinemia (above exchange transfusion levels).

Objective

To investigate whether MRI findings among (pre-)term infants with severe unconjugated hyperbilirubinemia can predict NDO at ≥ 12 months and determine optimal timing for MRI.

Data sources

PubMed and Embase. Last update: June 14, 2024.

Study selection

Studies in which (pre-)term infants with severe unconjugated hyperbilirubinemia who underwent an MRI before 24 months and had a reported NDO at ≥ 12 months were included.

Data extraction

Patient characteristics, MRI and NDO details were extracted.

Results

The search yielded 732 studies, of which 22 were included. Individual patient information was obtained for 120 infants (MRI-timing: early (≤6 weeks) n = 75, late (>6 weeks) n = 19, unknown n = 26). Positive predictive value (PPV) of abnormal MRI in the total group for impaired NDO was high (77.5 %). The PPV of late compared to early MRI was much higher, 92.3 % versus 71.7 %. Negative predictive value of normal MRI for normal NDO in the total group was low (29.0 %) and again higher in late compared to early MRI, 50.0 % versus 27.3 %.

Limitations

Quantitative synthesis of results was impossible due to large heterogeneity in study designs. Furthermore, selection bias towards patients with impaired outcome might have influenced our results.

Conclusions

Brain MRI can serve as prognostic tool for NDO in infants with severe unconjugated hyperbilirubinemia, both in early and late stages, but each timing has inherent constraints. Further prospective studies are necessary.

背景：对于严重非结合性高胆红素血症（高于交换性输血水平）婴儿脑部核磁共振成像对长期神经发育结果（NDO）的预测价值存在争议：研究严重未结合高胆红素血症（足月前）婴儿的核磁共振成像结果能否预测≥12个月时的NDO，并确定核磁共振成像的最佳时机：资料来源：PubMed 和 Embase。最后更新时间：2024 年 6 月 14 日：纳入在24个月前接受核磁共振成像且在≥12个月时报告有NDO的严重未结合高胆红素血症（足月前）婴儿的研究：数据提取：提取患者特征、MRI 和 NDO 的详细信息：结果：搜索结果显示有 732 项研究，其中 22 项被纳入。获得了120名婴儿的个体信息（核磁共振成像时间：早期（≤6周）n = 75，晚期（>6周）n = 19，未知n = 26）。在所有组别中，磁共振成像异常对 NDO 受损的阳性预测值（PPV）很高（77.5%）。与早期 MRI 相比，晚期 MRI 的 PPV 要高得多，分别为 92.3% 和 71.7%。全组正常 MRI 对正常 NDO 的阴性预测值较低（29.0%），晚期 MRI 对正常 NDO 的阴性预测值再次高于早期 MRI，分别为 50.0% 对 27.3%：局限性：由于研究设计存在很大的异质性，因此无法对结果进行定量综合。此外，对预后受损患者的选择偏倚可能会影响我们的结果：脑磁共振成像可作为重度未结合高胆红素血症婴儿NDO的预后工具，无论是早期还是晚期，但每个时机都有其固有的局限性。有必要进一步开展前瞻性研究。

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引用次数: 0

Somatosensory profile in individuals with duchenne muscular dystrophy: A quantitative sensory testing (QST) study 杜兴氏肌肉萎缩症患者的体感特征：定量感觉测试 (QST) 研究

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2024-09-19 DOI: 10.1016/j.ejpn.2024.09.007

Meihuan Huang , Ruiqing Cui , Yanfei Xie , Chunming Zhou , Turong Chen , Yujuan Wang , Guojun Yun

Objective

This study aimed to quantify somatosensory profiles in individuals with Duchenne muscular dystrophy (DMD).

Methods

We included 28 participants with genetically confirmed DMD (aged 8–17 years), 14 with chronic pain (DMD-CP), and 14 without pain (DMD-NP), compared to 13 healthy controls (HC) matched for age and sex. Three quantitative sensory testing (QST) modalities were examined: pressure pain threshold (PPT), temporal summation of pain (TSP) and conditioned pain modulation (CPM). Characteristics related to chronic pain, fatigue, psychological distress, and health-related quality of life were assessed using questionnaires.

Results

Decreased PPTs were found in both DMD cohorts across body areas commonly affected by pain (rectus femoris, medial gastrocnemius, paraspinal muscles, upper trapezius), as well as in a less frequently affected remote area (thenar eminence), compared to HCs (p < 0.001). The DMD-CP group exhibited greater TSP compared to HCs (p = 0.025). There were no differences in CPM effects between DMD groups and HCs. No differences were detected in all QST measures between DMD-CP and DMD-NP.

Significance

This study is the first to explore the somatosensory profile in DMD. Preliminary evidence suggests that generalized hyperalgesia may be a common feature in DMD regardless of pain status. QST measures appear to not distinguish individuals with chronic pain from those without and thus are not recommended for assessing pain in DMD or guiding treatment.

本研究旨在量化杜氏肌营养不良症（DMD）患者的体感特征。方法我们纳入了 28 名经基因证实的 DMD 患者（8-17 岁），其中 14 人患有慢性疼痛（DMD-CP），14 人无疼痛（DMD-NP），并与 13 名年龄和性别匹配的健康对照组（HC）进行了比较。研究人员对三种定量感觉测试 (QST) 模式进行了检测：压力痛阈 (PPT)、疼痛的时间累加 (TSP) 和条件性疼痛调节 (CPM)。结果发现，与 HCs 相比，DMD 两组受疼痛影响的常见身体部位（股直肌、腓肠肌内侧、脊柱旁肌肉、斜方肌上部）以及受影响较少的远端部位（耳后圆突）的 PPT 均有所下降（p < 0.001）。与普通人相比，DMD-CP 组的 TSP 更大（p = 0.025）。DMD 组和 HC 组的 CPM 效果没有差异。在所有 QST 测量中，DMD-CP 和 DMD-NP 之间均未发现差异。初步证据表明，无论疼痛状况如何，全身痛觉减退可能是 DMD 的共同特征。QST 测量似乎无法区分慢性疼痛患者和非慢性疼痛患者，因此不建议用于评估 DMD 患者的疼痛或指导治疗。

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引用次数: 0

Diagnostic and prognostic significance of serum interleukins in epileptic encephalopathy with spike wave activation in sleep (EE-SWAS) syndrome 血清白细胞介素对伴有睡眠尖波激活的癫痫性脑病（EE-SWAS）综合征的诊断和预后意义

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2024-09-17 DOI: 10.1016/j.ejpn.2024.09.006

Prashant Jauhari , Prabhjot Kaur , Sheffali Gulati , Ankit Kumar Meena , Tapish Pandey , Ashish Upadhyay

Objective

To study serum interleukin-6(IL-6), interleukin-8(IL-8) and interleukin-10(IL-10) levels in Epilpetic encephalopathy with spike-wave activation in sleep(EE-SWAS), drug refractory epilepsy(DRE) and well controlled epilepsy(WCE).

Methods

Children(2–12 years) with immunotherapy naïve EE-SWAS, DRE and WCE were enrolled. Valid psychometric tools were used to assess cognition and behavior. Children with EE-SWAS were longitudinally followed. They received a three-month steroid course alongwith the ongoing antiseizure drugs. Electroclinical responders were defined as change in social quotient by 5-points with improvement in atleast one behavioral domain by 5-points and 50 % reduction in mean seizure frequency if active seizures were present alongwith a 25 % reduction in Spike-wave-index(SWI) at three months. Change in serum Interleukin levels at one month follow up was compared between participants who eventually became responders or non-responders at three months.

Results

Twenty children with EE-SWAS, 18 with DRE and WCE each were enrolled. Serum IL-6(pg/ml){(EE-SWAS: 3.775(IQR 2.205, 11.28); DRE: 3.01(IQR 2.04, 4.56); WCE: 1.655(IQR 1.27, 2.29), p = 0.0065} and IL-8(pg/ml){(EE-SWAS: 103.2(IQR 34.01, 200.82); DRE: 19.595(IQR 16.54, 39.7); WCE: 18.97(IQR 16.54, 21.91) p = 0.0002} was significantly different between the three groups. In EE-SWAS group 12/20(60 %) showed electroclinical response to steroids. Responders had significant reduction in IL6 levels (pg/ml){4.045(IQR 2.605, 18.96) to 1.13(IQR 054, 1.74)} at one month follow up compared to non responders {3.12(IQR 1.655, 5.27) to 4.37(IQR 2.83, 9.855)} (p = 0.0069).

Conclusions

Proinflammatory cytokines (IL-6 and IL-8) are significantly elevated in EE-SWAS compared to DRE and WCE. Reduction in IL-6 levels at one month post-therapy predicted electroclinical responders at 3months follow up.

目的研究伴有睡眠尖波激活的带状疱疹脑病（EE-SWAS）、药物难治性癫痫（DRE）和控制良好的癫痫（WCE）患者的血清白细胞介素-6（IL-6）、白细胞介素-8（IL-8）和白细胞介素-10（IL-10）水平。采用有效的心理测量工具评估认知和行为。对EE-SWAS患儿进行了纵向跟踪。他们在接受抗癫痫药物治疗的同时，还接受了为期三个月的类固醇治疗。电临床应答者的定义是：社交商数提高 5 分，至少一个行为领域提高 5 分；如果存在活动性癫痫发作，平均发作频率降低 50%，三个月时尖波指数（SWI）降低 25%。在一个月的随访中，对三个月时最终成为应答者或未应答者的参与者的血清白细胞介素水平变化进行了比较。血清 IL-6（pg/ml）{（EE-SWAS：3.775（IQR 2.205，11.28）；DRE：3.01（IQR 2.04，4.56）；WCE：1.655（IQR 1.27，2.29），p = 0.0065}和 IL-8（pg/ml）{（EE-SWAS：103.2（IQR 34.01，200.82）；DRE：19.595（IQR 16.54，39.7）；WCE：18.97（IQR 16.54，21.91），p = 0.0002）在三组之间存在显著差异。在 EE-SWAS 组中，12/20（60%）的患者对类固醇产生了临床电反应。与无反应者相比，有反应者在一个月的随访中 IL6 水平（pg/ml）明显降低 {4.045(IQR 2.605, 18.96) to 1.13(IQR 054, 1.74)}。结论与 DRE 和 WCE 相比，EE-SWAS 中的炎性细胞因子（IL-6 和 IL-8）显著升高。治疗后一个月 IL-6 水平的降低预示着三个月随访时的电临床反应者。

{"title":"Diagnostic and prognostic significance of serum interleukins in epileptic encephalopathy with spike wave activation in sleep (EE-SWAS) syndrome","authors":"Prashant Jauhari , Prabhjot Kaur , Sheffali Gulati , Ankit Kumar Meena , Tapish Pandey , Ashish Upadhyay","doi":"10.1016/j.ejpn.2024.09.006","DOIUrl":"10.1016/j.ejpn.2024.09.006","url":null,"abstract":"<div><h3>Objective</h3><p>To study serum interleukin-6(IL-6), interleukin-8(IL-8) and interleukin-10(IL-10) levels in Epilpetic encephalopathy with spike-wave activation in sleep(EE-SWAS), drug refractory epilepsy(DRE) and well controlled epilepsy(WCE).</p></div><div><h3>Methods</h3><p>Children(2–12 years) with immunotherapy naïve EE-SWAS, DRE and WCE were enrolled. Valid psychometric tools were used to assess cognition and behavior. Children with EE-SWAS were longitudinally followed. They received a three-month steroid course alongwith the ongoing antiseizure drugs. Electroclinical responders were defined as change in social quotient by 5-points with improvement in atleast one behavioral domain by 5-points and 50 % reduction in mean seizure frequency if active seizures were present alongwith a 25 % reduction in Spike-wave-index(SWI) at three months. Change in serum Interleukin levels at one month follow up was compared between participants who eventually became responders or non-responders at three months.</p></div><div><h3>Results</h3><p>Twenty children with EE-SWAS, 18 with DRE and WCE each were enrolled. Serum IL-6(pg/ml){(EE-SWAS: 3.775(IQR 2.205, 11.28); DRE: 3.01(IQR 2.04, 4.56); WCE: 1.655(IQR 1.27, 2.29), p = 0.0065} and IL-8(pg/ml){(EE-SWAS: 103.2(IQR 34.01, 200.82); DRE: 19.595(IQR 16.54, 39.7); WCE: 18.97(IQR 16.54, 21.91) p = 0.0002} was significantly different between the three groups. In EE-SWAS group 12/20(60 %) showed electroclinical response to steroids. Responders had significant reduction in IL6 levels (pg/ml){4.045(IQR 2.605, 18.96) to 1.13(IQR 054, 1.74)} at one month follow up compared to non responders {3.12(IQR 1.655, 5.27) to 4.37(IQR 2.83, 9.855)} (p = 0.0069).</p></div><div><h3>Conclusions</h3><p>Proinflammatory cytokines (IL-6 and IL-8) are significantly elevated in EE-SWAS compared to DRE and WCE. Reduction in IL-6 levels at one month post-therapy predicted electroclinical responders at 3months follow up.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 33-38"},"PeriodicalIF":2.3,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142271702","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

Early differential diagnosis between acute inflammatory demyelinating polyneuropathy and acute-onset chronic inflammatory demyelinating polyneuropathy in children: Clinical factors and routine biomarkers 儿童急性炎症性脱髓鞘性多发性神经病与急性发作的慢性炎症性脱髓鞘性多发性神经病的早期鉴别诊断：临床因素和常规生物标志物

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2024-09-16 DOI: 10.1016/j.ejpn.2024.09.005

Zhiwei Yu, Yuan Xue, Hanyu Luo, Yuhang Li, Siqi Hong, Min Cheng, Jiannan Ma , Li Jiang

Background

To identify clinical factors and biomarkers that could contribute to early differential diagnosis of acute inflammatory demyelinating polyneuropathy (AIDP) and acute-onset chronic inflammatory demyelinating polyneuropathy (A-CIDP) in the pediatric population, with limited evidence.

Methods

We conducted an observational retrospective study of children diagnosed with AIDP and A-CIDP between January 2014 and December 2022. Demographic data, clinical features, and routine biomarkers were also analyzed. Statistical analysis was used to identify significant features with high sensitivity and specificity.

Results

We included 91 AIDP and 17 A-CIDP patients. The A-CIDP group had an older median age (6.33 vs. 4.33 years, p = 0.017), required more complex immunotherapies (p < 0.001), and showed a longer time to nadir over 2 weeks (76.5 % vs. 7.7 %, p < 0.001). Gastrointestinal dysfunction (29.4 % vs. 6.59 %, p = 0.014) and numbness (35.3 % vs. 12.1 %, p = 0.027) were more prevalent in A-CIDP. The AIDP patients had a longer median hospitalization stays (13 vs. 11 days, p < 0.05), more prodromal events (90.1 % vs. 64.7 %, p = 0.013), and more frequent cranial nerve palsy (61.5 % vs. 5.88 %, p < 0.001). The disability scores on admission, discharge, and peak were worse in the AIDP group (p < 0.001). AIDP patients showed higher cerebrospinal fluid protein (p = 0.039), albumin quotient (p = 0.048), leukocytes (p = 0.03), neutrophils (p = 0.010), platelet count (p = 0.005), systemic inflammatory index (SII) (p = 0.009), and gamma-glutamyl transferase (p = 0.039). Multivariable regression identified two independent predictors of early A-CIDP detection: time from onset to peak beyond 2 weeks (OR = 37.927, 95%CI = 7.081–203.15) and lower modified Rankin Scale score on admission (OR = 0.308, 95%CI = 0.121–0.788).

Conclusion

Our study found that when the condition continued to deteriorate beyond two weeks with a lower mRS on admission and possibly less cranial nerve involvement, we may favor the diagnosis of pediatric A-CIDP rather than AIDP.

背景在证据有限的情况下，确定有助于早期鉴别诊断儿科急性炎症性脱髓鞘性多发性神经病（AIDP）和急性发作性慢性炎症性脱髓鞘性多发性神经病（A-CIDP）的临床因素和生物标志物。方法我们对2014年1月至2022年12月期间诊断为AIDP和A-CIDP的儿童进行了一项观察性回顾研究。研究还分析了人口统计学数据、临床特征和常规生物标志物。结果我们纳入了91名AIDP和17名A-CIDP患者。A-CIDP组患者的中位年龄较大（6.33岁对4.33岁，p = 0.017），需要更复杂的免疫疗法（p < 0.001），2周内达到最低点的时间较长（76.5%对7.7%，p < 0.001）。胃肠道功能障碍（29.4% 对 6.59%，p = 0.014）和麻木（35.3% 对 12.1%，p = 0.027）在 A-CIDP 中更为普遍。AIDP患者的中位住院时间更长（13天 vs. 11天，p < 0.05），前驱事件更多（90.1% vs. 64.7%，p = 0.013），颅神经麻痹更频繁（61.5% vs. 5.88%，p < 0.001）。AIDP 组患者入院时、出院时和巅峰期的残疾评分均较差（p <0.001）。AIDP患者的脑脊液蛋白（p = 0.039）、白蛋白商（p = 0.048）、白细胞（p = 0.03）、中性粒细胞（p = 0.010）、血小板计数（p = 0.005）、全身炎症指数（SII）（p = 0.009）和γ-谷氨酰转移酶（p = 0.039）均较高。多变量回归确定了早期发现 A-CIDP 的两个独立预测因素：从发病到超过 2 周达到高峰的时间（OR = 37.927，95%CI = 7.081-203.15）和入院时较低的改良 Rankin 量表评分（OR = 0.308，95%CI = 0.121-0.788）。

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引用次数: 0

Impact of autoantibodies against myelin oligodendrocyte glycoprotein in paediatric acquired demyelinating disease: Intellectual functioning and academic performance 髓鞘少突胶质细胞糖蛋白自身抗体对小儿获得性脱髓鞘疾病的影响：智力功能和学习成绩

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2024-09-03 DOI: 10.1016/j.ejpn.2024.09.001

Daniel Griffiths-King , Charly Billaud , Lydiah Makusha , Ling Lynette Looi , Evangeline Wassmer , Sukhvir Wright , Amanda G. Wood

Paediatric acquired demyelinating syndromes (pADS) attack white matter pathways in the brain during an important period of development. Affected children can experience poor functional outcomes, including deficits in specific cognitive domains. Understanding risk factors for poor outcome will guide clinical management of these children. One clinical phenotype which may differentially impact cognitive outcomes is the presence of autoantibodies to myelin oligodendrocyte glycoprotein (MOG). Preliminary research has suggested that cognitive difficulties exist in paediatric patients who test positive for MOG antibodies or MOGAD (Myelin Oligodendrocyte Glycoprotein Associated Disease) however, they experience a less severe profile compared to seronegative counterparts. The current study assesses children diagnosed with pADS who tested positive or negative for MOG-ab using standardised assessments of both intellectual functioning and academic ability. The results show that a subset of MOGAD patients experience clinically significant sequalae in intellectual functioning and academic ability. The neuropsychological profile also differed between children with and without MOG-ab positivity, with seronegative patients more likely to show a clinically relevant difficulties at the individual patient level. Whilst no differences existed at the group-level; the current study demonstrates the relative additional risk of intellectual/academic difficulty associated with MOG-ab seronegativity. This research further supports the growing perspective that MOG-positivity confers a more favourable neuropsychological outlook than is the case for their seronegative counterparts. This broadening consensus offers reassurance for clinicians, families, and patients.

小儿获得性脱髓鞘综合征（pADS）会在发育的重要时期攻击大脑白质通路。受影响的儿童可能会出现不良的功能结果，包括特定认知领域的缺陷。了解不良后果的风险因素将为这些儿童的临床治疗提供指导。髓鞘少突胶质细胞糖蛋白（MOG）自身抗体是一种可能对认知结果产生不同影响的临床表型。初步研究表明，MOG抗体或MOGAD（髓鞘少突胶质细胞糖蛋白相关疾病）检测呈阳性的儿科患者存在认知障碍，但与血清反应阴性的患者相比，他们的认知障碍程度较轻。本研究通过对智力功能和学习能力进行标准化评估，对 MOG-ab 检测呈阳性或阴性的被诊断患有 pADS 的儿童进行评估。研究结果表明，一部分 MOGAD 患者在智力功能和学习能力方面出现了具有临床意义的后遗症。MOG-ab阳性和非阳性儿童的神经心理学特征也有所不同，血清阴性患者更有可能在个体层面上出现临床相关的困难。虽然在群体层面不存在差异，但本研究表明，MOG-ab 血清阴性会相对增加智力/学业困难的风险。这项研究进一步支持了越来越多的观点，即与血清阴性患者相比，MOG 阳性患者的神经心理学前景更为乐观。这一不断扩大的共识为临床医生、家属和患者提供了保证。

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引用次数: 0