European Journal of Paediatric Neurology最新文献_第10页

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

European Journal of Paediatric 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。

{"title":"Seizures in preterm infants with germinal-matrix-intraventricular hemorrhage (GM-IVH): a retrospective monocentric study on predictors and neurodevelopmental outcome","authors":"Stephanie C. Schüssler , Anna Paul , Undine Niederreiter , Ludger Deiters , Fabian B. Fahlbusch , Patrick Morhart , Regina Trollmann","doi":"10.1016/j.ejpn.2025.04.012","DOIUrl":"10.1016/j.ejpn.2025.04.012","url":null,"abstract":"<div><h3>Aim</h3><div>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.</div></div><div><h3>Methods</h3><div>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).</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Conclusion</h3><div>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.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 51-57"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143887991","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

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

European Journal of Paediatric 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, Elif Perihan Oncel, Canan Ustun, Deniz Menderes, 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

European Journal of Paediatric Neurology

Pub Date : 2025-05-01 DOI: 10.1016/j.ejpn.2025.05.007

Lindsey M. Vogt MD, MSc , Darius Ebrahimi-Fakhari MD, PhD

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

European Journal of Paediatric Neurology

Pub Date : 2025-05-01 DOI: 10.1016/j.ejpn.2025.04.010

Deborah A. Sival, Suus A.M van Noort

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

European Journal of Paediatric 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 , Soo Yeon Kim , Byung Chan Lim , Jong Hee Chae , Ki Joong Kim , Jae So Cho , Anna Cho , Hunmin Kim , 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 >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

European Journal of Paediatric 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。

{"title":"Quality of life in young adolescents with epilepsy: A case control study","authors":"J. Idowu , C. Meades , J.H. Cross , A. Muggeridge , M. Lakhanpaul , K. Robinson , L.B. Sherar , N. Pearson , C. Reilly","doi":"10.1016/j.ejpn.2025.05.005","DOIUrl":"10.1016/j.ejpn.2025.05.005","url":null,"abstract":"<div><h3>Rationale</h3><div>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.</div></div><div><h3>Method</h3><div>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.</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Conclusion</h3><div>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.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 115-120"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143941399","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

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

European Journal of Paediatric 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。

{"title":"Comprehensive genetic diagnosis and therapeutic perspectives in 155 children with developmental and epileptic encephalopathy","authors":"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","doi":"10.1016/j.ejpn.2025.04.014","DOIUrl":"10.1016/j.ejpn.2025.04.014","url":null,"abstract":"<div><div>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 <em>SCN1A</em>. 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).</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 97-103"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143923385","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

Disruptive lesions can cause developmental anomalies in the fetal brain: Mini-review 破坏性病变可导致胎儿大脑发育异常：简要回顾

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-05-01 DOI: 10.1016/j.ejpn.2025.05.003

Michal Gafner , Efrat Hadi , Leila Haddad , Liat Gindes , William B Dobyns , Tally Lerman-Sagie

The development of the fetal central nervous system (CNS) is a complex process influenced by genetic, environmental, and physiological factors. The absence of identifiable genetic variants and low risk of recurrence in families with certain brain malformations has led to the hypothesis that disruptive events may play a critical role in the development of brain malformations. These events include disruption of blood flow, ischemia, hemorrhage, placental insufficiency, prenatal drug exposure (e.g cocaine), and infections (e.g CMV). Likely disruptive anomalies include polymicrogyria (PMG), cerebellar hypoplasia, septo-optic dysplasia (SOD), absent septum pellucidum, and Dandy-Walker malformation (DWM). The timing of these disruptions is expected to reflect the stages of fetal brain development. Understanding the mechanisms behind disruptive-developmental anomalies of the fetal CNS is crucial for improving prenatal screening, counseling strategies, and potential interventions.

胎儿中枢神经系统（CNS）的发育是一个受遗传、环境和生理因素影响的复杂过程。在某些脑畸形的家庭中，缺乏可识别的遗传变异和低复发风险导致了破坏性事件可能在脑畸形的发展中起关键作用的假设。这些事件包括血流中断、缺血、出血、胎盘功能不全、产前药物暴露（如可卡因）和感染（如巨细胞病毒）。可能的破坏性异常包括多小回畸形（PMG）、小脑发育不全、视中隔发育不良（SOD）、透明中隔缺失和Dandy-Walker畸形（DWM）。这些中断的时间预计将反映胎儿大脑发育的阶段。了解胎儿中枢神经系统破坏性发育异常背后的机制对于改善产前筛查、咨询策略和潜在干预措施至关重要。

引用次数: 0

Newborn screening for neuro-metabolic disorders: Strategies, clinical benefits, and prerequisites for program expansion 新生儿神经代谢紊乱筛查：策略、临床益处和项目扩展的先决条件

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-05-01 DOI: 10.1016/j.ejpn.2025.03.017

Ulrike Mütze, Svenja Scharré, Elena Schnabel-Besson, Oya Kuseyri Hübschmann, Friederike Höster, Ali Tunҫ Tuncel, Stefan Kölker, Thomas Opladen

Newborn screening (NBS) is a successful program of secondary prevention for rare diseases, such as neuro-metabolic diseases, enabling early identification of affected individuals and pre-symptomatic treatment. Driven by innovations in high-throughput sequencing technologies, NBS panels have continued to grow and will probably be extended further in the future. However, implementing NBS for a disease is subject to various preconditions to maximize the benefit for the affected children, while avoiding harm to the screened healthy cohort, their families and the society. Ideally, data on clinical long-term benefit of NBS and early treatment is collected prior to NBS implementation through long-term observational studies and registries. In addition, NBS should be implemented as an iteratively evaluated public health program and the data collection should be accompanied by intra-operable long-term observational studies, ideally extended in international cooperations. In this review, the current expertise in NBS, the screening strategies and possible long-term clinical benefits are presented and discussed for several neuro-metabolic diseases, including propionic acidemia and isolated methylmalonic acidemias, homocystinurias, remethylation defects, acquired cobalamin (vitamin B₁₂) deficiency, urea cycle disorders, tetrahydrobiopterin (BH₄) and primary neurotransmitter disorders, as well as lysosomal storage disorders. Given these prerequisites, several of the neuro-metabolic diseases discussed here might be part of future NBS programs worldwide.

新生儿筛查（NBS）是罕见疾病（如神经代谢性疾病）二级预防的成功方案，能够早期识别受影响的个体并进行症状前治疗。在高通量测序技术创新的推动下，NBS面板持续增长，并可能在未来进一步扩展。然而，对某种疾病实施国家统计局需要满足各种先决条件，以便最大限度地为受影响的儿童带来好处，同时避免对被筛查的健康人群、其家庭和社会造成伤害。理想情况下，在实施NBS之前，通过长期观察性研究和登记，收集NBS的临床长期获益和早期治疗的数据。此外，国家统计局应作为一项反复评估的公共卫生计划实施，数据收集应伴随着术中长期观察性研究，最好在国际合作中扩展。在这篇综述中，介绍了NBS目前的专业知识，筛选策略和可能的长期临床益处，并讨论了几种神经代谢性疾病，包括丙酸血症和分离的甲基丙二酸血症，同型半胱氨酸尿，再甲基化缺陷，获得性钴胺素（维生素B12）缺乏症，尿素循环障碍，四氢生物蝶呤（BH4）和原发性神经递质障碍，以及溶酶体储存障碍。鉴于这些先决条件，这里讨论的一些神经代谢疾病可能是未来全球NBS计划的一部分。

{"title":"Newborn screening for neuro-metabolic disorders: Strategies, clinical benefits, and prerequisites for program expansion","authors":"Ulrike Mütze, Svenja Scharré, Elena Schnabel-Besson, Oya Kuseyri Hübschmann, Friederike Höster, Ali Tunҫ Tuncel, Stefan Kölker, Thomas Opladen","doi":"10.1016/j.ejpn.2025.03.017","DOIUrl":"10.1016/j.ejpn.2025.03.017","url":null,"abstract":"<div><div>Newborn screening (NBS) is a successful program of secondary prevention for rare diseases, such as neuro-metabolic diseases, enabling early identification of affected individuals and pre-symptomatic treatment. Driven by innovations in high-throughput sequencing technologies, NBS panels have continued to grow and will probably be extended further in the future. However, implementing NBS for a disease is subject to various preconditions to maximize the benefit for the affected children, while avoiding harm to the screened healthy cohort, their families and the society. Ideally, data on clinical long-term benefit of NBS and early treatment is collected prior to NBS implementation through long-term observational studies and registries. In addition, NBS should be implemented as an iteratively evaluated public health program and the data collection should be accompanied by intra-operable long-term observational studies, ideally extended in international cooperations. In this review, the current expertise in NBS, the screening strategies and possible long-term clinical benefits are presented and discussed for several neuro-metabolic diseases, including propionic acidemia and isolated methylmalonic acidemias, homocystinurias, remethylation defects, acquired cobalamin (vitamin B<sub>12</sub>) deficiency, urea cycle disorders, tetrahydrobiopterin (BH<sub>4</sub>) and primary neurotransmitter disorders, as well as lysosomal storage disorders. Given these prerequisites, several of the neuro-metabolic diseases discussed here might be part of future NBS programs worldwide.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 84-96"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143917448","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

Education and participation in children and adolescents with Duchenne muscular dystrophy in Switzerland 瑞士杜氏肌萎缩症儿童和青少年的教育和参与

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-05-01 DOI: 10.1016/j.ejpn.2025.03.010

Bettina C. Henzi , Dominique Baumann , Eleftheria Michalopoulou , Sarah J. Erni , Leonie Steiner , Nadine Lötscher , Anne Tscherter , Andrea Klein

Quality of life in Duchenne muscular dystrophy has been reported to be negatively affected by the lack of qualifying education and the lack of opportunities for participation in leisure activities. Two thirds of patients with Duchenne muscular dystrophy have cognitive and/or psychiatric problems. Thus, we conducted a survey study on mobility, school problems, executive functions, social participation and quality of life in young patients in Switzerland.

We contacted 60 male patients with Duchenne muscular dystrophy aged 8–18 years through the Swiss Registry for Neuromuscular Disorders. Mobility, school problems and social participation in leisure activities were assessed with a self-constructed questionnaire. Quality of life and executive function were assessed using KIDSCREEN-10 and BRIEF scores, respectively.

Out of 60 dispatched surveys, 67 % were filled out and included. Approximately half of the participants went to a special needs school, and 83 % rated their overall quality of life as good. We did not find a correlation between mobility and quality of life, whereas more social participation was correlated with higher quality of life. Furthermore, patients with more difficulties in executive functions showed less participation and lower quality of life.

These results underline the need for neuropsychological and adapted assistance in patients with Duchenne muscular dystrophy to facilitate education and social participation.

据报告，杜兴肌萎缩症患者的生活质量由于缺乏合格的教育和缺乏参加休闲活动的机会而受到不利影响。三分之二的杜氏肌营养不良患者有认知和/或精神问题。因此，我们对瑞士年轻患者的行动能力、学校问题、执行功能、社会参与和生活质量进行了调查研究。我们通过瑞士神经肌肉疾病登记处联系了60名8-18岁的杜氏肌营养不良症男性患者。以自编问卷评估活动能力、学校问题及休闲活动的社会参与。生活质量和执行功能分别使用KIDSCREEN-10和BRIEF评分进行评估。在60份派出的调查中，67%的人填写并包括在内。大约一半的参与者去了特殊需要学校，83%的人认为他们的整体生活质量很好。我们没有发现流动性和生活质量之间的相关性，而更多的社会参与与更高的生活质量相关。此外，执行功能困难较多的患者参与程度较低，生活质量较低。这些结果强调需要神经心理学和适应援助患者杜氏肌营养不良症，以促进教育和社会参与。

{"title":"Education and participation in children and adolescents with Duchenne muscular dystrophy in Switzerland","authors":"Bettina C. Henzi , Dominique Baumann , Eleftheria Michalopoulou , Sarah J. Erni , Leonie Steiner , Nadine Lötscher , Anne Tscherter , Andrea Klein","doi":"10.1016/j.ejpn.2025.03.010","DOIUrl":"10.1016/j.ejpn.2025.03.010","url":null,"abstract":"<div><div>Quality of life in Duchenne muscular dystrophy has been reported to be negatively affected by the lack of qualifying education and the lack of opportunities for participation in leisure activities. Two thirds of patients with Duchenne muscular dystrophy have cognitive and/or psychiatric problems. Thus, we conducted a survey study on mobility, school problems, executive functions, social participation and quality of life in young patients in Switzerland.</div><div>We contacted 60 male patients with Duchenne muscular dystrophy aged 8–18 years through the Swiss Registry for Neuromuscular Disorders. Mobility, school problems and social participation in leisure activities were assessed with a self-constructed questionnaire. Quality of life and executive function were assessed using KIDSCREEN-10 and BRIEF scores, respectively.</div><div>Out of 60 dispatched surveys, 67 % were filled out and included. Approximately half of the participants went to a special needs school, and 83 % rated their overall quality of life as good. We did not find a correlation between mobility and quality of life, whereas more social participation was correlated with higher quality of life. Furthermore, patients with more difficulties in executive functions showed less participation and lower quality of life.</div><div>These results underline the need for neuropsychological and adapted assistance in patients with Duchenne muscular dystrophy to facilitate education and social participation.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 107-114"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143928277","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