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Neurological outcomes and disability predictors in paediatric herpes simplex virus encephalitis: a multicentre cohort from French tertiary hospitals 儿童单纯疱疹病毒性脑炎的神经预后和残疾预测因素:来自法国三级医院的多中心队列研究
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-05-07 DOI: 10.1016/j.ejpn.2025.05.001
Caroline Rey , Laetitia Giorgi , Hélène Maurey , Anne-Lise Poulat , Daniel Amsallem , Anne Lepine , Stéphane Auvin , Renaldo Florence , Juliette Ropars , Emmanuel Cheuret , Sarah Baer , Jean-Marc Pinard , Anne Rolland , Pierre-Louis Leger , Sylvie Nguyen The Tich , Pierre Castelnau , Pierre Meyer , Sylvain Renolleau , Diana Rodriguez , Frederic Villega , Kumaran Deiva

Objective

To identify factors associated with the neurological outcome of HSVE in children.

Materials and methods

In this retrospective multicentric observational study, clinical, paraclinical data at onset and neurological outcomes at last follow-up of children (≥28 days and <18 years old) with HSVE, were studied. Univariate and multivariate analyses were performed to identify factors associated with neurological outcome.

Results

49 children (mean age of 4.9 ± 5.5 years) were included. At last follow-up of 5.9 ± 3,13 years, 2 children died (4 %) and 37 (76 %) children presented with poor neurological outcome with epilepsy (57 %), intellectual disability (51 %) and language disorders (47 %). Rehabilitation was necessary for 76 % and 59 % had abnormal academic performances. At onset, younger age and seizures were significantly associated to language disorders (p < 0.01), motor disabilities (p = 0.01), and intellectual disabilities (p = 0.01) in univariate analysis. Abnormal MRIs were more frequent in children with neurological sequalae (p = 0.01). Multivariate analyses identified that: (1) epilepsy occurred more frequently in females (p = 0.03), with insular lesions (p = 0.048); (2) language disorders were more common in children who had seizures at onset (p 0.02); (3) motor disorders were more frequent in younger children (p = 0.03) with thalamic lesions (p = 0.04).

Conclusion

Our findings indicate that despite decrease in mortality rates, neurological disabilities in children with HSVE still persist at high levels. This underscores the need to enhance HSVE management strategies. Moreover, the identified risk factors associated with poor neurological outcomes can aid in identifying high-risk children, facilitating the implementation of alternative treatment approaches such as immunotherapy or intensive rehabilitation.
目的探讨影响儿童HSVE神经转归的相关因素。材料和方法在这项回顾性多中心观察性研究中,研究了HSVE患儿(≥28天,18岁)发病时的临床、临床旁数据和最后随访时的神经学结局。进行单因素和多因素分析以确定与神经预后相关的因素。结果纳入49例儿童,平均年龄4.9±5.5岁。最后随访5.9±3.13年,2例死亡(4%),37例(76%)出现神经系统预后不良,包括癫痫(57%)、智力障碍(51%)和语言障碍(47%)。76%的学生需要康复治疗,59%的学生学业成绩异常。发病时,年龄较小和癫痫发作与语言障碍显著相关(p <;在单变量分析中,运动障碍(p = 0.01)和智力障碍(p = 0.01)。mri异常在神经后遗症患儿中更为常见(p = 0.01)。多因素分析表明:(1)女性癫痫发生率更高(p = 0.03),并伴有岛叶病变(p = 0.048);(2)起病时有癫痫发作的患儿语言障碍发生率较高(p < 0.02);(3)低龄儿童运动障碍发生率较高(p = 0.03),丘脑病变发生率较高(p = 0.04)。结论我们的研究结果表明,尽管死亡率下降,但HSVE儿童的神经功能障碍水平仍然很高。这强调了加强HSVE管理策略的必要性。此外,已确定的与神经预后不良相关的风险因素可以帮助识别高危儿童,促进替代治疗方法的实施,如免疫治疗或强化康复。
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引用次数: 0
Hepatocellular carcinoma in two unrelated patients with PNPO deficiency Epilepsy: A risk of long-term pyridoxal-5′-phosphate therapy? 两例不相关PNPO缺乏性癫痫患者的肝细胞癌:长期吡哆醛-5 ' -磷酸治疗的风险?
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-05-01 DOI: 10.1016/j.ejpn.2025.05.002
Paola De Liso , Richard Webster , Barbara Plecko , Federico Vigevano
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引用次数: 0
Brain morphometry and psychomotor development in children with PCH2A PCH2A患儿脑形态测量学与精神运动发育
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-05-01 DOI: 10.1016/j.ejpn.2025.04.004
Pablo Pretzel , Antonia Herrmann , Alice Kuhn , Anna-Lena Klauser , Julia Matilainen , Elias Kellner , Maren Hackenberg , Simone Mayer , Lucia Laugwitz , Markus Uhl , Samuel Groeschel , Wibke G. Janzarik

Introduction

Pontocerebellar hypoplasia type 2A (PCH2A) is a rare neurogenetic disease characterized by severe cognitive and motor impairment. This study reports on brain morphometry and psychomotor development of affected children.

Materials and methods

We analyzed 78 cerebral MRI datasets of 57 patients with genetically confirmed PCH2A. Volumetric and in-plane measurements were conducted in cerebellum, neocortex and pons. Supratentorial width and width of the anterior horns of the lateral ventricles was used to calculate the Evans index. Caregivers of 65 patients (aged 7 months to 33 years) filled in a survey assessing motor and cognitive development. Developmental status was compared to MRI measurements.

Results

In children with PCH2A, cerebellar volume was markedly smaller than in healthy children at birth, with slower increase and stagnation at around 12 months. No cerebellar growth was observed in the cranio-caudal axis. Longitudinal data did not reveal a decrease in cerebellar volume or in-plane measurements. Supratentorial measurements showed progressive microcephaly and a continuous increase of the Evans index, reflecting progressive cerebral atrophy. Patients demonstrated severe cognitive and motor impairments, with developmental regression reported in only a minority. No statistical relationship between brain measurements and cognitive or motor development was observed.

Conclusion

MRI in PCH2A patients shows limited cerebellar growth during infancy, especially restricted along the cranio-caudal axis. After infancy, cerebellar volume remains relatively stable. Supratentorial measurements indicate slowly progressive atrophy. Psychomotor development is significantly impaired, but regression is rare.
2A型桥小脑发育不全(PCH2A)是一种罕见的神经遗传性疾病,以严重的认知和运动障碍为特征。本研究报告了患病儿童的脑形态测量和精神运动发展。材料与方法我们分析了57例经遗传证实的PCH2A患者的78组脑MRI数据集。对小脑、新皮层和脑桥进行了体积和面内测量。采用侧脑室前角和幕上宽度计算Evans指数。65名患者(7个月至33岁)的护理人员填写了一份评估运动和认知发展的调查。发育状况与MRI测量结果进行比较。结果PCH2A患儿出生时小脑体积明显小于正常儿童,12月龄左右小脑体积增长缓慢,停滞不前。颅尾轴未见小脑生长。纵向数据没有显示小脑体积或平面测量的减少。幕上测量显示进行性小头畸形和Evans指数持续升高,反映进行性脑萎缩。患者表现出严重的认知和运动障碍,只有少数患者出现发育倒退。没有观察到大脑测量与认知或运动发育之间的统计关系。结论mri显示婴儿期PCH2A患者小脑发育受限,尤其是颅尾轴发育受限。婴儿期后,小脑容量保持相对稳定。幕上测量显示缓慢进行性萎缩。精神运动发育明显受损,但很少出现倒退。
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引用次数: 0
Seizures in preterm infants with germinal-matrix-intraventricular hemorrhage (GM-IVH): a retrospective monocentric study on predictors and neurodevelopmental outcome 伴有生发基质脑室内出血(GM-IVH)的早产儿癫痫发作:一项预测因素和神经发育结局的回顾性单中心研究
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-05-01 DOI: 10.1016/j.ejpn.2025.04.012
Stephanie C. Schüssler , Anna Paul , Undine Niederreiter , Ludger Deiters , Fabian B. Fahlbusch , Patrick Morhart , Regina Trollmann

Aim

Germinal-matrix-intraventricular hemorrhage (GM-IVH) is a leading cause of seizures in preterm infants. This study aimed to analyze risk factors associated with seizures and to evaluate neurodevelopmental outcomes in preterm infants with GM-IVH and seizures.

Methods

We conducted a retrospective study from 2011 to 2019, identifying preterm infants with GM-IVH grades 2–4 through an electronic patient file system. Seizures were diagnosed based on clinical manifestations and abnormal EEG findings. Infants were grouped by the presence or absence of seizures, and associated comorbidities were compared. Neurodevelopmental follow-up was assessed at two years of age using the Mental Bayley Scales of Infant Development II (BSID-II). Outcomes of infants with seizures were compared to all tested preterm infants with birth weight <1500 g born between 2011 and 2019 (n = 195).

Results

A total of 34 preterm infants with GM-IVH grades 2–4 were included. Seizures occurred in 52.9 % of cases. Their occurrence was significantly associated with lower gestational age (mean 28.1 vs. 30 weeks, p = 0.04) and pneumonia (p = 0.003). Infants with seizures had significantly lower BSID-II Mental scores (n = 15) compared to those without seizures (86.3 ± 18.3 vs. 104.9 ± 8.5, p = 0.03). However, as these infants had a lower gestational age, we could not distinguish if they had a poorer outcome because of seizures or because of immaturity.

Conclusion

Seizures in preterm infants with GM-IVH were significantly associated with lower gestational age and pneumonia. Infections and inflammation may contribute to seizure development. Larger studies with continuous EEG monitoring are needed to validate these findings.
aimgerminal -matrix- ventricular hemorrhage (GM-IVH)是早产婴儿癫痫发作的主要原因。本研究旨在分析与癫痫发作相关的危险因素,并评估患有GM-IVH和癫痫发作的早产儿的神经发育结局。方法对2011年至2019年进行回顾性研究,通过电子患者档案系统识别2-4级GM-IVH早产儿。根据临床表现和异常脑电图诊断癫痫发作。婴儿按有无癫痫发作进行分组,并比较相关的合并症。神经发育随访在两岁时使用婴儿发育心理贝利量表II (BSID-II)进行评估。将癫痫发作婴儿的结局与2011年至2019年出生的所有出生体重为1500 g的早产儿(n = 195)进行比较。结果共纳入GM-IVH 2 ~ 4级早产儿34例。52.9%的病例发生癫痫发作。其发生与低胎龄(平均28.1周vs. 30周,p = 0.04)和肺炎(p = 0.003)显著相关。癫痫患儿的BSID-II心理评分(n = 15)明显低于无癫痫患儿(86.3±18.3比104.9±8.5,p = 0.03)。然而,由于这些婴儿的胎龄较低,我们无法区分他们的预后较差是因为癫痫发作还是因为不成熟。结论GM-IVH早产儿癫痫发作与低胎龄及肺炎有显著相关性。感染和炎症可能导致癫痫发作。需要更大规模的连续脑电图监测研究来验证这些发现。
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引用次数: 0
Approach to childhood tremors: Insights from a pediatric neurologist 儿童震颤的治疗方法:来自儿科神经学家的见解
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-05-01 DOI: 10.1016/j.ejpn.2025.04.015
Pinar Ozbudak, Elif Perihan Oncel, Canan Ustun, Deniz Menderes, Deniz Yuksel

Objective

This study aimed to analyze the demographic, clinical, and therapeutic profiles of pediatric patients diagnosed with tremor at a tertiary neurology outpatient clinic and to identify the most frequently employed therapeutic modalities.

Methods

A retrospective analysis was conducted between November 1, 2022, and April 1, 2024. Patients were categorized into etiological groups, including essential tremor, metabolic causes (e.g., vitamin deficiencies and thyroid dysfunction), functional tremor, and other etiologies. Patients diagnosed with essential tremor were further divided based on whether they were prescribed anti-tremor medications, and the groups were compared regarding daily functional abilities.

Results

A total of 192 patients were included, of whom 81 (42.1 %) were male. The mean age was 170 months, and the mean tremor duration was 19 months. Essential tremor accounted for 125 cases (65.1 %), while 38 patients (19.7 %) had a metabolic etiology. First-line anti-tremor medication (propranolol) was administered to 58 out of 125 patients (46.4 %), and four patients required second-line therapy (primidone). Between the medicated and non-medicated groups no significant gender differences or difficulty in bringing food to the mouth accurately were observed. However, significant statistical differences were noted in difficulties with drinking water, using a spoon, and handwriting impairments.

Conclusion

Childhood tremor is a common clinical condition with diverse etiologies, where treatable causes, especially vitamin deficiencies, play a significant role. Functional impairments, such as difficulty in drinking water, using a spoon, and writing, may serve as key predictors for initiating first-line anti-tremor therapy. Propranolol remains an effective therapeutic option for essential tremor in children.
目的:本研究旨在分析三级神经病学门诊诊断为震颤的儿科患者的人口统计学、临床和治疗概况,并确定最常用的治疗方式。方法于2022年11月1日至2024年4月1日进行回顾性分析。患者被分为病因组,包括特发性震颤、代谢原因(如维生素缺乏和甲状腺功能障碍)、功能性震颤和其他病因。诊断为特发性震颤的患者根据是否服用了抗震颤药物进一步进行了分类,并对两组患者的日常功能能力进行了比较。结果共纳入192例患者,其中男性81例(42.1%)。平均年龄170个月,平均震颤持续时间19个月。原发性震颤125例(65.1%),代谢性震颤38例(19.7%)。125例患者中有58例(46.4%)使用一线抗震颤药物(心得安),4例患者需要二线治疗(普胺酮)。在服药组和未服药组之间,没有观察到明显的性别差异或将食物准确送入口腔的困难。然而,在饮水困难、使用勺子困难和书写障碍方面,统计上存在显著差异。结论儿童震颤是一种常见的临床疾病,病因多样,其中可治疗的原因,尤其是维生素缺乏,起着重要作用。功能障碍,如饮水、使用勺子和书写困难,可能是开始一线抗震颤治疗的关键预测因素。心得安仍然是儿童特发性震颤的有效治疗选择。
{"title":"Approach to childhood tremors: Insights from a pediatric neurologist","authors":"Pinar Ozbudak,&nbsp;Elif Perihan Oncel,&nbsp;Canan Ustun,&nbsp;Deniz Menderes,&nbsp;Deniz Yuksel","doi":"10.1016/j.ejpn.2025.04.015","DOIUrl":"10.1016/j.ejpn.2025.04.015","url":null,"abstract":"<div><h3>Objective</h3><div>This study aimed to analyze the demographic, clinical, and therapeutic profiles of pediatric patients diagnosed with tremor at a tertiary neurology outpatient clinic and to identify the most frequently employed therapeutic modalities.</div></div><div><h3>Methods</h3><div>A retrospective analysis was conducted between November 1, 2022, and April 1, 2024. Patients were categorized into etiological groups, including essential tremor, metabolic causes (e.g., vitamin deficiencies and thyroid dysfunction), functional tremor, and other etiologies. Patients diagnosed with essential tremor were further divided based on whether they were prescribed anti-tremor medications, and the groups were compared regarding daily functional abilities.</div></div><div><h3>Results</h3><div>A total of 192 patients were included, of whom 81 (42.1 %) were male. The mean age was 170 months, and the mean tremor duration was 19 months. Essential tremor accounted for 125 cases (65.1 %), while 38 patients (19.7 %) had a metabolic etiology. First-line anti-tremor medication (propranolol) was administered to 58 out of 125 patients (46.4 %), and four patients required second-line therapy (primidone). Between the medicated and non-medicated groups no significant gender differences or difficulty in bringing food to the mouth accurately were observed. However, significant statistical differences were noted in difficulties with drinking water, using a spoon, and handwriting impairments.</div></div><div><h3>Conclusion</h3><div>Childhood tremor is a common clinical condition with diverse etiologies, where treatable causes, especially vitamin deficiencies, play a significant role. Functional impairments, such as difficulty in drinking water, using a spoon, and writing, may serve as key predictors for initiating first-line anti-tremor therapy. Propranolol remains an effective therapeutic option for essential tremor in children.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 74-79"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143903644","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
Symptomatic management of pediatric dystonia: A call for multidisciplinary, individualized palliative care 儿童肌张力障碍的症状管理:呼吁多学科,个性化姑息治疗。
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-05-01 DOI: 10.1016/j.ejpn.2025.05.007
Lindsey M. Vogt MD, MSc , Darius Ebrahimi-Fakhari MD, PhD
{"title":"Symptomatic management of pediatric dystonia: A call for multidisciplinary, individualized palliative care","authors":"Lindsey M. Vogt MD, MSc ,&nbsp;Darius Ebrahimi-Fakhari MD, PhD","doi":"10.1016/j.ejpn.2025.05.007","DOIUrl":"10.1016/j.ejpn.2025.05.007","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Page A1"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144129437","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
Editorial: Unraveling the complexities of DEE and movement disorders in young children 社论:揭示幼儿DEE和运动障碍的复杂性。
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-05-01 DOI: 10.1016/j.ejpn.2025.04.010
Deborah A. Sival, Suus A.M van Noort
{"title":"Editorial: Unraveling the complexities of DEE and movement disorders in young children","authors":"Deborah A. Sival,&nbsp;Suus A.M van Noort","doi":"10.1016/j.ejpn.2025.04.010","DOIUrl":"10.1016/j.ejpn.2025.04.010","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Page A2"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144013450","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
Pediatric new-onset super-refractory status epilepticus (NOSRSE): a case-series 儿童新发超难治性癫痫持续状态(NOSRSE):一个病例系列
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-05-01 DOI: 10.1016/j.ejpn.2025.04.008
Hyungjin Chin , Soo Yeon Kim , Byung Chan Lim , Jong Hee Chae , Ki Joong Kim , Jae So Cho , Anna Cho , Hunmin Kim , Woo Joong Kim

Background

New-onset super-refractory status epilepticus (NOSRSE) leads to functional deficits and residual epilepsy. This study aimed to describe pediatric NOSRSE cohort to gain clinical insights of their features.

Methods

A retrospective review of children with NOSRSE in 2013–2024 was conducted at two tertiary hospitals. Patient clinical data, including MRI, CSF profile, EEG, and treatments, were collected and reviewed. The primary outcome measure was the modified Rankin scale score (mRS) at 3-month post-seizure.

Results

Twenty-three patients with NOSRSE, with a median age of 7.9 years, were included. Twenty-one (91 %) had febrile infection-related epilepsy syndrome (FIRES). The initial cerebrospinal fluid (CSF) profile was normal in five (23 %), pleocytosis was present in nine (39 %), and CSF protein was elevated in 15 (68 %) patients. Initial Brain MRI was normal in 14 (61 %) patients. First- and second-line immunotherapy was delivered to 21 (91 %) and 15 (68 %) patients, respectively. The etiology was viral infection in two (9 %) patients, and presumed cryptogenic in the remaining. The primary outcome was poor (mRS ≥4) in 14 (61 %) patients and all had residual epilepsy. Elevated initial CSF protein levels were associated with poor outcomes. Mental status before treatment, time to immunotherapy, intubation of >2 weeks or tracheostomy, and the duration of anesthetics were also associated with the primary outcome.

Conclusion

Most pediatric NOSRSE patients presented as cryptogenic FIRES, with poor long-term outcomes. None of the patients with NOSRSE tested positive for autoimmune antibodies. Many showed permanent MRI changes but did not correlate with outcome. The initial CSF profile may serve as an objective disease severity marker in NOSRSE.
背景:新发超难治性癫痫持续状态(NOSRSE)导致功能缺陷和残留癫痫。本研究旨在描述儿童NOSRSE队列,以获得其特征的临床见解。方法对两所三级医院2013-2024年收治的NOSRSE患儿进行回顾性分析。收集并回顾了患者的临床资料,包括MRI、CSF谱、EEG和治疗。主要结局指标为癫痫发作后3个月的改良Rankin量表评分(mRS)。结果入选NOSRSE患者23例,中位年龄7.9岁。21例(91%)有发热性感染相关癫痫综合征(FIRES)。5例(23%)患者脑脊液(CSF)初始形态正常,9例(39%)患者出现多细胞增多,15例(68%)患者脑脊液蛋白升高。14例(61%)患者初始脑MRI正常。一线和二线免疫治疗分别给予21例(91%)和15例(68%)患者。2例(9%)患者的病因为病毒感染,其余患者的病因推定为隐源性。14例(61%)患者的主要预后较差(mRS≥4),且均有残余癫痫。初始脑脊液蛋白水平升高与预后不良相关。治疗前精神状态、免疫治疗时间、插管2周或气管切开时间、麻醉药持续时间也与主要结局相关。结论大多数儿童NOSRSE患者表现为隐源性FIRES,长期预后较差。所有NOSRSE患者自身免疫抗体检测均未呈阳性。许多人表现出永久性的MRI改变,但与结果无关。初始CSF谱可作为NOSRSE的客观疾病严重程度标志。
{"title":"Pediatric new-onset super-refractory status epilepticus (NOSRSE): a case-series","authors":"Hyungjin Chin ,&nbsp;Soo Yeon Kim ,&nbsp;Byung Chan Lim ,&nbsp;Jong Hee Chae ,&nbsp;Ki Joong Kim ,&nbsp;Jae So Cho ,&nbsp;Anna Cho ,&nbsp;Hunmin Kim ,&nbsp;Woo Joong Kim","doi":"10.1016/j.ejpn.2025.04.008","DOIUrl":"10.1016/j.ejpn.2025.04.008","url":null,"abstract":"<div><h3>Background</h3><div>New-onset super-refractory status epilepticus (NOSRSE) leads to functional deficits and residual epilepsy. This study aimed to describe pediatric NOSRSE cohort to gain clinical insights of their features.</div></div><div><h3>Methods</h3><div>A retrospective review of children with NOSRSE in 2013–2024 was conducted at two tertiary hospitals. Patient clinical data, including MRI, CSF profile, EEG, and treatments, were collected and reviewed. The primary outcome measure was the modified Rankin scale score (mRS) at 3-month post-seizure.</div></div><div><h3>Results</h3><div>Twenty-three patients with NOSRSE, with a median age of 7.9 years, were included. Twenty-one (91 %) had febrile infection-related epilepsy syndrome (FIRES). The initial cerebrospinal fluid (CSF) profile was normal in five (23 %), pleocytosis was present in nine (39 %), and CSF protein was elevated in 15 (68 %) patients. Initial Brain MRI was normal in 14 (61 %) patients. First- and second-line immunotherapy was delivered to 21 (91 %) and 15 (68 %) patients, respectively. The etiology was viral infection in two (9 %) patients, and presumed cryptogenic in the remaining. The primary outcome was poor (mRS ≥4) in 14 (61 %) patients and all had residual epilepsy. Elevated initial CSF protein levels were associated with poor outcomes. Mental status before treatment, time to immunotherapy, intubation of &gt;2 weeks or tracheostomy, and the duration of anesthetics were also associated with the primary outcome.</div></div><div><h3>Conclusion</h3><div>Most pediatric NOSRSE patients presented as cryptogenic FIRES, with poor long-term outcomes. None of the patients with NOSRSE tested positive for autoimmune antibodies. Many showed permanent MRI changes but did not correlate with outcome. The initial CSF profile may serve as an objective disease severity marker in NOSRSE.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 67-73"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143899154","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
Quality of life in young adolescents with epilepsy: A case control study 青少年癫痫患者的生活质量:一项病例对照研究
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-05-01 DOI: 10.1016/j.ejpn.2025.05.005
J. Idowu , C. Meades , J.H. Cross , A. Muggeridge , M. Lakhanpaul , K. Robinson , L.B. Sherar , N. Pearson , C. Reilly

Rationale

There is limited data comparing quality of life (QOL) in young adolescents with epilepsy with young adolescents without epilepsy. This study aimed to compare self and caregiver rated child quality of life in young adolescents with epilepsy and a matched control group without epilepsy, and to explore factors associated with quality of life in young adolescents with epilepsy.

Method

Young adolescents with epilepsy (aged between 11 and 15 years) (n = 60; 25/35 boys/girls), a group of matched controls (n = 49 25/24; boys/girls), and their primary caregivers completed a measure of the child's quality of life (Pediatric Quality of Life Inventory; PedsQL). Comparisons between the epilepsy and control group were undertaken using chi-square analysis and independent t-tests. Linear regression was used to explore factors associated with quality of life in the adolescents with epilepsy. An alpha level of p < 0.05 was used.

Results

Adolescents with epilepsy had significantly lower scores on all QoL domains, summary scores and total score of the self-rated PedsQL (all p < 0.001 with exception of physical functioning (p = 0.003)). Adolescents with epilepsy also had significantly lower caregiver rated total QOL with lower scores on all of the PedsQL domains, summary scores, and on the total score (all p < 0.001). Increased adolescent mental health difficulties, increased adolescent motor coordination difficulties, and having had seizures in the week prior to the assessment were associated with reduced quality of life scores on both adolescents and caregiver rated quality of life in the adolescents with epilepsy.

Conclusion

Young adolescents with epilepsy have lower QOL on both self- and caregiver report compared to peers without epilepsy. The association with mental health and motor coordination difficulties highlights the need for identification and management of these co-occurring conditions. It is important that resources for identification and management of these difficulties are available in epilepsy clinics to optimise QoL for these adolescents.
理由:有癫痫的青少年与无癫痫的青少年的生活质量(QOL)比较数据有限。本研究旨在比较青少年癫痫患者和对照组的自我和照顾者评定的儿童生活质量,并探讨影响青少年癫痫患者生活质量的因素。方法青少年癫痫患者(11 ~ 15岁)(n = 60;25/35名男孩/女孩),一组匹配的对照组(n = 49 25/24;男孩/女孩),他们的主要照顾者完成了儿童生活质量的测量(儿科生活质量量表;PedsQL)。癫痫组与对照组比较采用卡方分析和独立t检验。采用线性回归方法探讨与青少年癫痫患者生活质量相关的因素。p <的α水平;采用0.05。结果青少年癫痫患者的生活质量各域得分、自评PedsQL的总结得分和总分均显著低于青少年癫痫患者(p <;0.001,身体功能除外(p = 0.003))。青少年癫痫患者的照顾者评定的总生活质量也明显较低,所有PedsQL域、总结得分和总分的得分均较低(p <;0.001)。青少年心理健康问题的增加、青少年运动协调困难的增加以及在评估前一周有癫痫发作与青少年和照顾者评定的青少年癫痫患者的生活质量得分降低有关。结论青少年癫痫患者生活质量的自我报告和照顾者报告均低于未患癫痫的同龄人。与心理健康和运动协调困难的关联突出了识别和管理这些共存条件的必要性。重要的是,在癫痫诊所提供识别和管理这些困难的资源,以优化这些青少年的生活质量。
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引用次数: 0
Comprehensive genetic diagnosis and therapeutic perspectives in 155 children with developmental and epileptic encephalopathy 155例儿童发育性和癫痫性脑病的综合遗传学诊断和治疗展望
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-05-01 DOI: 10.1016/j.ejpn.2025.04.014
R. van Heurck , E.B. Hammar , D. Ville , S. Lebon , N. Chatron , C. Marconi , B. Royer-Bertrand , G. Lesca , A. Superti-Furga , M. Abramowicz , C. Korff
We studied a retrospective cohort of children with developmental and epileptic encephalopathy (DEE), a group of neurological conditions characterized by early onset epilepsy and severe developmental delay. Cases were recruited from three university hospitals based on clinical criteria, after a blinded cross-validation process, and most were subject to both array-CGH and exome-based gene panel analyses. 155 subjects were included. A genetic diagnosis was identified in 105 (68 %). A majority of patients (71 %) had onset of symptoms before the age of one year. In this age group a disease-causing variant was identified in 73 % of children, the highest proportion of cases reported so far. Genetic heterogeneity was high, involving 40 different genes. The most prevalent gene was SCN1A. Eight genes were identified in multiple patients and accounted for 50 % of all diagnoses. The remaining genes represented ultra-rare disorders. In many cases, molecular diagnosis leads to treatment adaptation and allows for genetic counseling. Those results highlight the growing importance of genetic investigations especially in children with symptoms onset before the age of 1. Finally, we evaluated the disease-causing variants in an intention-to-treat approach and found that almost half would theoretically be amenable to personalized therapy using antisense oligonucleotides (ASOs).
我们研究了一组患有发展性和癫痫性脑病(DEE)的儿童,这是一组以早发性癫痫和严重发育迟缓为特征的神经系统疾病。在经过盲法交叉验证过程后,根据临床标准从三所大学医院招募病例,大多数病例均接受阵列cgh和基于外显子组的基因面板分析。共纳入155名受试者。105例(68%)确诊为基因诊断。大多数患者(71%)在一岁前出现症状。在这一年龄组中,73%的儿童发现了致病变异,这是迄今为止报告的病例比例最高的。遗传异质性高,涉及40个不同基因。最普遍的基因是SCN1A。在多个患者中发现了8个基因,占所有诊断的50%。剩下的基因代表了极其罕见的疾病。在许多情况下,分子诊断导致治疗适应,并允许遗传咨询。这些结果强调了基因调查的重要性,特别是在1岁之前出现症状的儿童中。最后,我们在意向治疗方法中评估了致病变异,发现几乎一半的变异理论上适用于使用反义寡核苷酸(ASOs)进行个性化治疗。
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引用次数: 0
期刊
European Journal of Paediatric Neurology
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