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Polysomnography and Autonomic Function Signatures of Nocturnal Enuresis: An Observational Study 夜间遗尿的多导睡眠图和自主神经功能特征:一项观察性研究
IF 2.1 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-02-01 Epub Date: 2025-11-08 DOI: 10.1016/j.pediatrneurol.2025.11.003
Parag Thosare MD (Dr.) , Biswaroop Chakrabarty DM (Dr.) , Sheffali Gulati MD (Prof) , Ashok Jariyal MD (Prof) , Pankaj Hari MD (Prof) , Prashant Jauhari DM (Dr.) , Sushil Kabra MD (Prof) , Kapil Sikka MS (Prof) , Ravindra M. Pandey PhD (Prof) , Ashish Dutt Upadhyay PhD (Dr.) , Sanjida Khan PhD (Dr.)

Background

Independent evaluation of overnight polysomnography and autonomic function in primary monosymptomatic nocturnal enuresis (PMNE) have produced variable results. The objective of this study was to simultaneously evaluate both to improve pathophysiological understanding with consequent therapeutic implications.

Methods

Five- to eighteen-year-olds with PMNE, presenting to a North Indian tertiary care teaching hospital (exclusion criteria: chronic systemic illness, intelligence quotient<70, and treated for PMNE in the last 6 months) were enrolled. Overnight polysomnography and autonomic function testing were preceded by Childhood and Adolescent Sleep Evaluation Questionnaire, Childhood behavior Checklist, and projective personality testing evaluations. Subsequently, they received standard behavioral therapy for 12 weeks.

Results

Twenty-one cases were enrolled (10.6 ± 3.2 years, 16 boys). Impaired behavior was seen in 47.6% (majority inattention) and family/academics/self-esteem-related stressors were present in 42.9%. Sleep-related breathing disorder and sleep-related movement disorder (SRMD) were reported in 71.4% (15/21) and 61.9% (13/21), respectively. Cases had significantly lower sleep efficiency (72.3 ± 10.9% vs 80.6 ± 9.1%), higher proportion of N2 (76.4 ± 2% vs 63.1 ± 2.8%), and lower proportion of N3 (16.3 ± 1.7% vs 28.2 ± 1.5%) compared to controls. The diurnal median low frequency/high frequency variability was minimal (one [interquartile range (IQR):0.8-1.9] in sleep and 1.4 [IQR:0.5-2] while awake, P = 0.4). Median root mean square of successive differences was higher in sleep than awake state (81.04 ms [IQR:56.4-189.4] vs 60.6 ms ([QR:46-194.5], P = 0.5). One third responded favorably to standard behavioral therapy. Presence of other primary sleep disorders, particularly SRMD was significantly associated with poor response.

Conclusions

A dopamine depletion state with therapeutic implications can be speculated in PMNE, in those with impaired sleep and SRMD along with loss of diurnal sympathetic variation.
背景:对原发性单症状性夜间遗尿(PMNE)的夜间多导睡眠图和自主神经功能的独立评估产生了不同的结果。本研究的目的是同时评估这两种方法,以提高对病理生理学的理解,并由此产生治疗意义。方法入选了在北印度三级医疗教学医院就诊的5 - 18岁PMNE患者(排除标准:慢性全身性疾病,智商≥70,近6个月接受PMNE治疗)。在进行夜间多导睡眠仪和自主神经功能测试之前,进行儿童和青少年睡眠评估问卷、儿童行为检查表和投射性人格测试评估。随后,他们接受了为期12周的标准行为治疗。结果共入组21例,年龄10.6±3.2岁,男孩16例。47.6%的人行为受损(主要是注意力不集中),42.9%的人存在家庭/学业/自尊相关的压力源。睡眠相关呼吸障碍和睡眠相关运动障碍(SRMD)分别占71.4%(15/21)和61.9%(13/21)。与对照组相比,患者睡眠效率明显降低(72.3±10.9% vs 80.6±9.1%),N2比例明显升高(76.4±2% vs 63.1±2.8%),N3比例明显降低(16.3±1.7% vs 28.2±1.5%)。低频/高频的日中位数变异性最小(睡眠时为1[四分位数间距(IQR):0.8-1.9],清醒时为1.4 [IQR:0.5-2], P = 0.4)。睡眠状态的连续差异中位数均方根高于清醒状态(81.04 ms [IQR:56.4-189.4] vs 60.6 ms ([QR:46-194.5], P = 0.5)。三分之一的人对标准行为疗法反应良好。存在其他原发性睡眠障碍,特别是重度睡眠障碍与不良反应显著相关。结论多巴胺耗竭状态在PMNE、睡眠受损患者和重度睡眠障碍患者以及交感神经昼夜变化丧失患者中具有治疗意义。
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引用次数: 0
Mycoplasma Pneumoniae-Associated Arterial Ischemic Stroke in Pediatric Patients: Clinical Manifestations and Neuroimaging Findings 小儿肺炎支原体相关动脉缺血性脑卒中的临床表现和神经影像学结果
IF 2.1 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-02-01 Epub Date: 2025-10-23 DOI: 10.1016/j.pediatrneurol.2025.10.016
Zemou Yu PhD , Lingbing Meng PhD , Jingjing Jia PhD , Weihua Zhang MD , Hui Xiong MD , Fang Fang MD , Jiuwei Li MD , Xiuwei Zhuo MD
<div><h3>Background</h3><div>Recently, mycoplasma pneumoniae pneumonia (MPP) has been prevalent among children in China. Literature on the clinical manifestations and neuroradiological findings in pediatric patients with MPP-associated arterial ischemic stroke (AIS) is scarce. This study aimed to describe the clinical characteristics, laboratory and neuroimaging data on pediatric MPP-associated AIS.</div></div><div><h3>Methods</h3><div>This is a single-center retrospective cohort study (COIST study) conducted in Beijing Children's Hospital, consisting of 380 patients with first-ever, imaging-verified ischemic stroke between September 2015 and April 2024. Following rigorous diagnostic protocols, the underlying cause of AIS was definitively determined as mycoplasma pneumoniae infection in a subset of 14 children. A descriptive statistical approach was employed to encapsulate the clinical manifestations, laboratory findings, and neuroradiological characteristics observed in this cohort. The severity of stroke was systematically evaluated using the pediatric National Institutes of Health Stroke Scale, whereas the stroke outcome was assessed with a dual methodology: the pediatric stroke outcome measure and the modified Rankin Scales.</div></div><div><h3>Results</h3><div>A total of 14 children with MPP-associated AIS were enrolled, comprising 8 males (57.14%), with a median age of 6.70 years (interquartile range: 5.12-9.08 years). The incidence of AIS among all hospitalized MPP patients stood at 1.1‰, accounting for 3.68% of all childhood AISs. Notably 12 of the 14 patients exhibited severe MPP. Regarding cerebrospinal fluid analysis, the occurrence of pleocytosis was rarely noted, and the detection of antibodies to mycoplasma pneumoniae within the cerebrospinal fluid was equally rare. The primary neurological manifestations were hemiplegia and facial paralysis, both observed in 78.57% of patients (n = 11). In addition, disturbance of consciousness and aphasia were frequent symptoms, each present in 57.14% of cases (n = 8). Anterior circulation infarcts were the most prevalent, occurring in 78.57% of patients (n = 11), and vascular occlusion was noted in 9 of 14 patients (64.29%). Multiple infarctions were identified in 8 patients (57.14%), while 4 patients (28.57%) experienced bilateral infarctions. The middle cerebral artery was the most commonly affected vascular territory, affected in 50.00% of patients (n = 7), followed by the internal carotid artery and anterior cerebral artery, each affected in 21.43% of cases (n = 3). Hemorrhagic transformation occurred in half of the patients. Regarding treatment, 50% of patients (n = 7) received low molecular weight heparin (LMWH) monotherapy, while 2 patients were treated with both LMWH and aspirin, one with LMWH and dipyridamole, and one with aspirin monotherapy. Despite the onset-to-door time being mostly ≤6 hours, a poor outcome was experienced by 71.43% of patients, with a median pediatric National Insti
近年来,肺炎支原体肺炎(mycoplasma pneumoniae pneumonia, MPP)在中国儿童中流行。关于小儿mpp相关性动脉缺血性脑卒中(AIS)的临床表现和神经影像学表现的文献很少。本研究旨在描述小儿mpp相关AIS的临床特征、实验室和神经影像学数据。方法本研究为单中心回顾性队列研究(COIST),于2015年9月至2024年4月在北京儿童医院开展,纳入380例首次影像学证实的缺血性脑卒中患者。根据严格的诊断方案,14名儿童的潜在病因被明确确定为肺炎支原体感染。采用描述性统计方法来概括该队列中观察到的临床表现、实验室结果和神经放射学特征。卒中严重程度采用美国国立卫生研究院儿童卒中量表进行系统评估,卒中结局采用双重方法进行评估:儿科卒中结局测量和修正Rankin量表。结果共纳入14例mpp相关AIS患儿,其中男性8例(57.14%),中位年龄6.70岁(四分位数范围5.12 ~ 9.08岁)。所有住院MPP患者的AIS发生率为1.1‰,占所有儿童AIS的3.68%。值得注意的是,14例患者中有12例表现为严重的MPP。关于脑脊液分析,很少注意到多细胞增多症的发生,脑脊液中检测到肺炎支原体抗体同样罕见。主要神经系统表现为偏瘫和面瘫,78.57%的患者(n = 11)出现这两种症状。此外,意识障碍和失语是常见症状,分别出现在57.14% (n = 8)的病例中。前循环梗死最为常见,发生率为78.57% (n = 11), 14例患者中有9例(64.29%)出现血管闭塞。多发梗死8例(57.14%),双侧梗死4例(28.57%)。大脑中动脉是最常见的受累血管区域,占50.00% (n = 7),其次是颈内动脉和大脑前动脉,各占21.43% (n = 3)。半数患者发生出血转化。治疗方面,50%的患者(n = 7)接受低分子肝素(LMWH)单药治疗,2例患者同时接受低分子肝素和阿司匹林治疗,1例患者同时接受低分子肝素和双嘧达莫治疗,1例患者同时接受阿司匹林单药治疗。尽管从发病到上门的时间大多≤6小时,但71.43%的患者预后不佳,出院时美国国立卫生研究院卒中量表儿童得分中位数为7分(四分位数范围:2-10分)。结论:在我们的队列中,smpp相关AIS的预后较差。常见的临床症状包括偏瘫、嗜睡和失语。尽管及时意识到mpp相关的卒中,但目前的治疗(低分子肝素和口服阿司匹林)显示出有限的疗效。
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引用次数: 0
Chronic Lymphocytic Inflammation With Pontine Perivascular Enhancement Responsive to Steroids Clinical Manifestations in Children Versus Adults 慢性淋巴细胞炎症伴脑桥血管周围增强对类固醇的反应儿童与成人的临床表现。
IF 2.1 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-02-01 Epub Date: 2025-11-19 DOI: 10.1016/j.pediatrneurol.2025.11.011
Angel Phan MS4 , Gilbert Handal MD , Dale W. Quest PhD , Josh Nichols MD , Seunghong Rhee MD , Diana Moreno MS4
This article explores the manifestations, radiological findings, associated diseases, treatment, and outcomes in pediatric chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (C.L.I.P.P.E.R.S.). It was inspired by an 11-year-old male who presented with headache, ataxia, nystagmus, persistent vomiting, nausea, and constipation. He was diagnosed with C.L.I.P.P.E.R.S. based on clinical and radiologic findings, and positive response to treatment. The ensuing literature review led us to conclude that pediatric C.L.I.P.P.E.R.S. has a clinical presentation, etiology, evolution, course and prognosis different from adult cases. Future pediatric workup should include genetic studies because of commonly associated mutations such as PRF1. Treatment in pediatric cases should account for a delayed response to steroids, frequent recurrences, and especially in genetic cases, definitive treatment may require hematopoietic stem cell transplant. It seems that C.L.I.P.P.E.R.S. is not an isolated disease, rather a syndrome with unique radiologic findings, a wide range of etiologies, and clinical and neurologic manifestations that distinguish pediatric from adult cases. In order to optimize treatment and follow-up, future diagnostic approaches of C.L.I.P.P.E.R.S. in children should include workup for a primary disease such as EBV B cell lymphoma or hemophagocytic lymphohistiocytosis.
本文探讨了儿童慢性淋巴细胞炎伴脑桥血管周围增强对类固醇反应(C.L.I.P.P.E.R.S.)的表现、影像学表现、相关疾病、治疗和结局。它的灵感来自于一名11岁的男性,他表现出头痛、共济失调、眼球震颤、持续呕吐、恶心和便秘。根据临床和放射学表现,以及对治疗的积极反应,他被诊断为cli.p.p.e.r.s.。随后的文献回顾使我们得出结论,儿童c.l.i.p.p.e.r.s具有不同于成人病例的临床表现、病因、演变、病程和预后。未来的儿科检查应包括基因研究,因为常见的相关突变,如PRF1。儿科病例的治疗应考虑到对类固醇的延迟反应,频繁复发,特别是在遗传病例中,最终治疗可能需要造血干细胞移植。C.L.I.P.P.E.R.S.似乎不是一种孤立的疾病,而是一种具有独特放射学表现、广泛病因、临床和神经系统表现的综合征,将儿科病例与成人病例区分开来。为了优化治疗和随访,未来儿童C.L.I.P.P.E.R.S.的诊断方法应该包括对原发疾病的检查,如EBV B细胞淋巴瘤或噬血细胞淋巴组织细胞增多症。
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引用次数: 0
Predictors of Drug-Resistant Epilepsy After Perinatal Stroke 围产期中风后耐药癫痫的预测因素
IF 2.1 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-02-01 Epub Date: 2025-11-04 DOI: 10.1016/j.pediatrneurol.2025.10.030
Miles Fisher DO , Kristen Bolte DO , Shilpa B. Reddy MD , Mark Rodeghier PhD , Lori C. Jordan MD, PhD

Background

To identify predictors of drug-resistant epilepsy (DRE) in children with a history of perinatal ischemic stroke (PIS).

Methods

This single-center retrospective observational study analyzed children with PIS using international classification of diseases, ninth revision (ICD-9) codes, institutional databases, medical records, and neuroimaging from 2012 to 2023. DRE was defined as seizures unresponsive to ≥2 antiseizure medications. The Pediatric Stroke Outcome Measure (PSOM) was retrospectively scored.

Results

Of 96 children with PIS, 56% developed epilepsy and 20 (21%) had DRE. Median age at the last visit was 7.9 years (interquartile range, 3.1-11.7 years.) Among those with DRE, 70% had presumed perinatal stroke and 30% had symptomatic neonatal stroke. PSOM scores differed by epilepsy status: median PSOM was 2.5 for DRE, 1.8 for non-DRE epilepsy and 1.0 for children without epilepsy; paired comparisons for neurological outcome found a difference between those with DRE compared to those without epilepsy (P < 0.001). Hippocampal volume reduction was the only predictor of DRE (odds ratio 6.45, 95% confidence interval 1.80-23.16, P = 0.004) in a multivariable model including sex, neonatal seizures, and total PSOM. Children with DRE tried a median of four antiseizure medications after the newborn period, and 13 (65%) underwent epilepsy surgery. Favorable outcomes (seizure-free or >90% reduction) were seen in 62% postsurgery, including three focal resections, four functional hemispherectomies, and one posterior quadrant disconnection.

Conclusions

Hippocampal volume reduction is a strong predictor of DRE following PIS. Epilepsy and DRE were more common in older children. Hemispherectomy and focal resections were associated with favorable seizure outcomes.
背景:探讨围产期缺血性卒中(PIS)患儿耐药癫痫(DRE)的预测因素。方法采用国际疾病分类第九版(ICD-9)编码、机构数据库、医疗记录和神经影像学资料,对2012 - 2023年PIS患儿进行单中心回顾性观察研究。DRE定义为癫痫发作对≥2种抗癫痫药物无反应。对儿童卒中结局测量(PSOM)进行回顾性评分。结果96例PIS患儿中,56%发生癫痫,20例(21%)发生DRE。最后一次就诊时的中位年龄为7.9岁(四分位数范围为3.1-11.7岁)。在DRE患者中,70%推定有围产期卒中,30%有新生儿卒中症状。PSOM评分因癫痫状态而异:DRE患儿PSOM中位数为2.5,非DRE患儿为1.8,无癫痫患儿为1.0;神经系统预后的配对比较发现,DRE患者与非癫痫患者之间存在差异(P < 0.001)。在包括性别、新生儿癫痫发作和总PSOM在内的多变量模型中,海马体积减少是DRE的唯一预测因子(优势比6.45,95%可信区间1.80-23.16,P = 0.004)。DRE患儿在新生儿期后平均使用4种抗癫痫药物,其中13例(65%)接受了癫痫手术。62%的术后患者预后良好(无癫痫发作或减少90%),包括3例局灶性切除,4例功能性半球切除和1例后象限断开。结论海马体积缩小是PIS后DRE的重要预测指标。癫痫和DRE在年龄较大的儿童中更为常见。半球切除术和局灶性切除术与良好的癫痫发作结果相关。
{"title":"Predictors of Drug-Resistant Epilepsy After Perinatal Stroke","authors":"Miles Fisher DO ,&nbsp;Kristen Bolte DO ,&nbsp;Shilpa B. Reddy MD ,&nbsp;Mark Rodeghier PhD ,&nbsp;Lori C. Jordan MD, PhD","doi":"10.1016/j.pediatrneurol.2025.10.030","DOIUrl":"10.1016/j.pediatrneurol.2025.10.030","url":null,"abstract":"<div><h3>Background</h3><div>To identify predictors of drug-resistant epilepsy (DRE) in children with a history of perinatal ischemic stroke (PIS).</div></div><div><h3>Methods</h3><div>This single-center retrospective observational study analyzed children with PIS using international classification of diseases, ninth revision (ICD-9) codes, institutional databases, medical records, and neuroimaging from 2012 to 2023. DRE was defined as seizures unresponsive to ≥2 antiseizure medications. The Pediatric Stroke Outcome Measure (PSOM) was retrospectively scored.</div></div><div><h3>Results</h3><div>Of 96 children with PIS, 56% developed epilepsy and 20 (21%) had DRE. Median age at the last visit was 7.9 years (interquartile range, 3.1-11.7 years.) Among those with DRE, 70% had presumed perinatal stroke and 30% had symptomatic neonatal stroke. PSOM scores differed by epilepsy status: median PSOM was 2.5 for DRE, 1.8 for non-DRE epilepsy and 1.0 for children without epilepsy; paired comparisons for neurological outcome found a difference between those with DRE compared to those without epilepsy (<em>P</em> &lt; 0.001). Hippocampal volume reduction was the only predictor of DRE (odds ratio 6.45, 95% confidence interval 1.80-23.16, <em>P</em> = 0.004) in a multivariable model including sex, neonatal seizures, and total PSOM. Children with DRE tried a median of four antiseizure medications after the newborn period, and 13 (65%) underwent epilepsy surgery. Favorable outcomes (seizure-free or &gt;90% reduction) were seen in 62% postsurgery, including three focal resections, four functional hemispherectomies, and one posterior quadrant disconnection.</div></div><div><h3>Conclusions</h3><div>Hippocampal volume reduction is a strong predictor of DRE following PIS. Epilepsy and DRE were more common in older children. Hemispherectomy and focal resections were associated with favorable seizure outcomes.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 1-7"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145537056","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
Preliminary Outcomes of Central Responsive Neurostimulation for Multifocal Epilepsy in Pediatric Patients 中枢反应性神经刺激治疗小儿多灶性癫痫的初步结果
IF 2.1 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-02-01 Epub Date: 2025-10-31 DOI: 10.1016/j.pediatrneurol.2025.10.026
Marian Michael Bercu MD, MSc , Kathryn E. Spykman BSN , Velisa M. Johnson PhD , Angel W. Hernandez MD

Background

Drug-resistant epilepsy (DRE) in the pediatric population is a challenging disease, with limited surgical interventions available. We report the preliminary outcomes for pediatric patients with multifocal DRE epilepsy treated with centromedian responsive neurostimulation.

Methods

A retrospective chart review was conducted in 11 pediatric patients with multifocal epilepsy who were treated with bilateral responsive neurostimulation (RNS) of the centromedian nucleus. All patients were implanted with at least one RNS system; three patients had two RNS systems implanted, with additional leads targeting bilateral cortical or subcortical epileptogenic areas.

Results

Ten out of the 11 patients (90%) treated with RNS (ages 5-20 years old, average 13.73 years old, median 14 years old) were found to have at least a 50% reduction in seizures using at least two modalities of data analysis. The average follow-up time was 1.33 years. Upon reviewing the data from the electronic medical records, 6 patients (55%) experienced a reduction in seizures of 75% or higher, 4 patients (36%) experienced a reduction in seizures between 50 and 74% and 1 patient (9%) was nonresponsive. At least 8 patients (72%) experienced subjective improvements in behavior, interactions, and/or academic performance. This was most pronounced in the subgroup of 4 patients diagnosed with autism spectrum disorder. Ninety percent of patients and families reported improvements in quality of life secondary to neurostimulation. No surgical or stimulation-related complications or side effects were encountered.

Conclusions

The preliminary outcomes suggest a robust response to central neurostimulation in pediatric patients suffering from multifocal DRE, with an excellent safety profile.
背景:在儿科人群中,耐药癫痫(DRE)是一种具有挑战性的疾病,可用的手术干预措施有限。我们报告了小儿多灶性DRE癫痫患者接受中枢反应性神经刺激治疗的初步结果。方法对11例接受双侧反应性神经刺激(RNS)治疗的小儿多灶性癫痫患者进行回顾性分析。所有患者均植入至少一个RNS系统;三名患者植入了两个RNS系统,附加的导联靶向双侧皮质或皮质下致痫区。结果11例(90%)接受RNS治疗的患者(年龄5-20岁,平均年龄13.73岁,中位年龄14岁)通过至少两种数据分析方式发现癫痫发作减少至少50%。平均随访时间为1.33年。通过查看电子医疗记录的数据,6名患者(55%)癫痫发作减少了75%或更高,4名患者(36%)癫痫发作减少了50%至74%,1名患者(9%)无反应。至少8名患者(72%)在行为、互动和/或学习成绩方面经历了主观改善。这在被诊断为自闭症谱系障碍的4名患者的亚组中最为明显。90%的患者和家属报告了神经刺激后生活质量的改善。没有手术或刺激相关的并发症或副作用。结论:初步结果表明,小儿多灶性DRE患者对中枢神经刺激有良好的反应,且具有良好的安全性。
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引用次数: 0
Duchenne Muscular Dystrophy: Clinical Innovations, Ethical Considerations, and Evolving the Path to Adulthood 杜氏肌萎缩症:临床创新,伦理考虑,并发展到成年的道路。
IF 2.1 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-02-01 Epub Date: 2025-11-27 DOI: 10.1016/j.pediatrneurol.2025.11.020
Natalie Kukulka MD , Paul Vermilion MD , Bo Lee MD
Duchenne Muscular Dystrophy (DMD) is a progressive and life-limiting neuromuscular disorder with profound implications for affected individuals and their families. Advances in genetic and molecular therapies, including exon skipping agents, gene therapy, and Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)-based approaches have ushered in a new era of disease-modifying treatments. However, these breakthroughs also introduce complex ethical and psychosocial challenges. As we continue to extend life expectancy and improve motor outcomes for individuals with DMD, there is also a need to ensure autonomy-supportive environments, particularly during the transition to adulthood. This review provides a comprehensive exploration of the evolving landscape of DMD management, the long-term and ethical considerations of experimental therapies, and the psychosocial impacts on patients and caregivers. In the context of recent major advancements in medical care, we reflect on the impact of the growing group of DMD “boys” navigating the transition to adulthood. Lastly, this review highlights the critical need for multidisciplinary care models that address not only the biological but also the evolving psychological and social dimensions of the disease. By synthesizing perspectives from treatment innovation and ethical discourse, this article equips readers with a holistic understanding of the transformative potential and challenges associated with DMD therapies. This review aims to support multidisciplinary neuromuscular clinics to more fully meet the needs of an increasingly diverse population of patients with an ever-expanding potential.
杜氏肌营养不良症(DMD)是一种进行性和限制性的神经肌肉疾病,对患者及其家庭有着深远的影响。遗传和分子疗法的进步,包括外显子跳跃剂、基因疗法和基于簇状规则间隔短回文重复(CRISPR)的方法,开创了疾病修饰治疗的新时代。然而,这些突破也带来了复杂的伦理和社会心理挑战。随着我们继续延长DMD患者的预期寿命和改善运动结果,我们也需要确保自主支持的环境,特别是在向成年期过渡的过程中。这篇综述全面探讨了DMD管理的发展前景,实验性治疗的长期和伦理考虑,以及对患者和护理人员的心理社会影响。在最近医疗保健取得重大进展的背景下,我们反思了越来越多的DMD“男孩”群体向成年过渡的影响。最后,这篇综述强调了对多学科护理模式的迫切需要,这种模式不仅要解决疾病的生物学问题,还要解决疾病不断发展的心理和社会方面的问题。通过综合治疗创新和伦理话语的观点,本文使读者对与DMD治疗相关的变革潜力和挑战有了全面的了解。本综述旨在支持多学科神经肌肉临床,以更充分地满足日益多样化的患者群体的需求,并不断扩大潜力。
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引用次数: 0
Axonal Versus Demyelinating Guillain-Barré Syndrome Subtypes in Critically Ill Children: Clinical and Autonomic Profiles 危重儿童轴突与脱髓鞘格林-巴勒综合征亚型:临床和自主神经特征
IF 2.1 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-02-01 Epub Date: 2025-11-29 DOI: 10.1016/j.pediatrneurol.2025.11.016
Deepankar Bansal DM, Manjinder Singh Randhawa DM, Rajalakshmi Iyer DM, Shivan Kesavan DM, Suresh Kumar Angurana DM, Karthi Nallasamy DM, Renu Suthar DM, Naveen Sankhyan DM, Jayashree Muralidharan MD, Arun Bansal MD

Background

Electrophysiological subtypes of Guillain-Barré Syndrome (GBS) vary in pathophysiology and clinical presentation, but comparative data on their intensive care needs in critically ill children remain limited.

Methods

In this retrospective cohort study, we analyzed 224 children (1 month to 12 years) diagnosed with GBS and admitted to the Pediatric Intensive Care Unit of a tertiary care hospital in North India from January 2010 to December 2022. GBS was subtyped based on nerve conduction studies into acute motor axonal neuropathy (AMAN), acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor-sensory axonal neuropathy (AMSAN), inexcitable, or equivocal patterns. Clinical features, intensive care interventions, and outcomes were compared across subtypes.

Results

AMAN was the most common subtype (61.6%), followed by AIDP (20.1%) and AMSAN (8%). A prodromal illness was reported in 47.3% of cases. Mechanical ventilation was required in 54.9%, and tracheostomy in 24.2% of children. AMSAN was associated with a significantly longer duration of symptoms at presentation (P = 0.006). Autonomic instability, particularly hypertension (P = 0.04), was significantly more frequent in the AIDP group. However, Hughes disability scores, respiratory and cranial nerve involvement, and intensive care needs were similar across subtypes.

Conclusions

AMAN was the predominant GBS subtype in critically ill children. While AMSAN was associated with delayed presentation and AIDP with greater autonomic dysfunction, overall intensive care needs and short-term outcomes were comparable across subtypes.
背景吉兰-巴罗综合征(GBS)的电生理亚型在病理生理和临床表现上各不相同,但危重儿童重症监护需求的比较数据仍然有限。方法在这项回顾性队列研究中,我们分析了2010年1月至2022年12月在印度北部一家三级医院儿科重症监护室确诊为GBS的224名儿童(1个月至12岁)。根据神经传导研究,GBS亚型分为急性运动轴索神经病(AMAN)、急性炎症性脱髓鞘多根神经病变(AIDP)、急性运动-感觉轴索神经病(AMSAN)、不可兴奋型或模棱两可型。不同亚型的临床特征、重症监护干预措施和结果进行了比较。结果最常见的亚型是saman(61.6%),其次是AIDP(20.1%)和AMSAN(8%)。47.3%的病例报告有前驱疾病。54.9%的儿童需要机械通气,24.2%的儿童需要气管切开术。AMSAN与出现时症状持续时间明显延长相关(P = 0.006)。自主神经不稳定,特别是高血压(P = 0.04),在AIDP组明显更频繁。然而,休斯残疾评分、呼吸和颅神经受累以及重症监护需求在不同亚型之间是相似的。结论saman是危重患儿GBS的主要亚型。虽然AMSAN与延迟表现和AIDP与更大的自主神经功能障碍相关,但总体重症监护需求和短期结果在各亚型之间具有可比性。
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引用次数: 0
Behavioral and Emotional Challenges in Children With Spinal Muscular Atrophy 脊髓性肌萎缩症儿童的行为和情绪挑战。
IF 2.1 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-02-01 Epub Date: 2025-11-04 DOI: 10.1016/j.pediatrneurol.2025.10.029
Lakshmi Balaji DNB , Didu S. Kariyawasam PhD , Karen Herbert DPT , Hugo A. Sampaio MBBS , Esther Tantsis PhD , Michelle A. Farrar PhD

Background

The use of disease modifying therapies has altered the natural history of spinal muscular atrophy (SMA) leading to changing needs and recognition of multisystem involvement, including cognitive processes. We aimed to investigate the prevalence of, and characterize the behavioral and emotional profiles of children/young people with symptomatic SMA.

Methods

This single-centre, cross-sectional study of children 4-17 years with symptomatic SMA, assessed emotional and behavioral problems using Strengths and Difficulties Questionnaire (SDQ). Clinical characteristics and parent- and child/young person-reported outcomes (Pediatric Quality of Life neuromuscular module) specific to a neuromuscular disorder were also collated. Fisher's exact, Kruskal-Wallis, and regression tests were used for analyses.

Results

Forty-eight children were enrolled (median age [interquartile range]: 7.8 years [5.4-11.4]). Total SDQ scores identified difficulties in 17/48 (35.4%) children with SMA, compared to population frequency of 10%; 16/4 8 (33.3%) parents perceived that their child's emotional/behavioral difficulties were burden on the family, which were chronic for 9/16 (56.3%) and substantial for 10/16 (62.5%), interfering with child's everyday life. Difficulties within at least one domain of the SDQ were identified in 29/48 (60.4%). Of the cohort, 12/48(25%) had difficulties in the domains of hyperactivity, emotional regulation and conduct. For those with abnormal SDQ scores, there was significant association with lower total Pediatric Quality of Life neuromuscular module scores (odds ratio: 1.09, 95% confidence intervals: 1.02, 1.16, P = 0.009).

Conclusions

The study found clinically significant level of emotional and behavioral dysregulation in children/young people with SMA in all categories of motor function, and with negative impact on everyday life. In the context of changing phenotypes and function with treatment, these were evident across varying severities of motor function. These findings support routine mental health surveillance as a means of early identification and intervention, alongside the provision of psychological support to optimize health outcomes.
背景:疾病修饰疗法的使用改变了脊髓性肌萎缩症(SMA)的自然史,从而改变了对包括认知过程在内的多系统参与的需求和认识。我们的目的是调查有症状性SMA的儿童/青少年的患病率,并描述其行为和情绪特征。方法:对4-17岁有症状性SMA的儿童进行单中心横断面研究,使用优势与困难问卷(SDQ)评估情绪和行为问题。还对特定神经肌肉疾病的临床特征和父母和孩子/年轻人报告的结果(儿科生活质量神经肌肉模块)进行了整理。采用Fisher精确检验、Kruskal-Wallis检验和回归检验进行分析。结果:48名儿童入组(中位年龄[四分位数间距]:7.8岁[5.4-11.4])。总体SDQ评分在17/48 (35.4%)SMA儿童中发现了困难,而总体发生率为10%;16/ 8(33.3%)家长认为孩子的情绪/行为困难是家庭负担,9/16为慢性(56.3%),10/16为重度(62.5%),影响了孩子的日常生活。在29/48(60.4%)中,在SDQ的至少一个领域中发现了困难。在队列中,12/48(25%)在多动、情绪调节和行为方面存在困难。对于SDQ评分异常的儿童,其总体儿童生活质量神经肌肉模块评分较低有显著相关性(优势比:1.09,95%可信区间:1.02,1.16,P = 0.009)。结论:研究发现,儿童/青少年SMA患者在所有运动功能类别中均存在显著的情绪和行为失调,并对日常生活产生负面影响。在治疗改变表型和功能的背景下,这些在不同程度的运动功能中都很明显。这些发现支持将常规心理健康监测作为早期识别和干预的手段,同时提供心理支持以优化健康结果。
{"title":"Behavioral and Emotional Challenges in Children With Spinal Muscular Atrophy","authors":"Lakshmi Balaji DNB ,&nbsp;Didu S. Kariyawasam PhD ,&nbsp;Karen Herbert DPT ,&nbsp;Hugo A. Sampaio MBBS ,&nbsp;Esther Tantsis PhD ,&nbsp;Michelle A. Farrar PhD","doi":"10.1016/j.pediatrneurol.2025.10.029","DOIUrl":"10.1016/j.pediatrneurol.2025.10.029","url":null,"abstract":"<div><h3>Background</h3><div>The use of disease modifying therapies has altered the natural history of spinal muscular atrophy (SMA) leading to changing needs and recognition of multisystem involvement, including cognitive processes. We aimed to investigate the prevalence of, and characterize the behavioral and emotional profiles of children/young people with symptomatic SMA.</div></div><div><h3>Methods</h3><div>This single-centre, cross-sectional study of children 4-17 years with symptomatic SMA, assessed emotional and behavioral problems using Strengths and Difficulties Questionnaire (SDQ). Clinical characteristics and parent- and child/young person-reported outcomes (Pediatric Quality of Life neuromuscular module) specific to a neuromuscular disorder were also collated. Fisher's exact, Kruskal-Wallis, and regression tests were used for analyses.</div></div><div><h3>Results</h3><div>Forty-eight children were enrolled (median age [interquartile range]: 7.8 years [5.4-11.4]). Total SDQ scores identified difficulties in 17/48 (35.4%) children with SMA, compared to population frequency of 10%; 16/4 8 (33.3%) parents perceived that their child's emotional/behavioral difficulties were burden on the family, which were chronic for 9/16 (56.3%) and substantial for 10/16 (62.5%), interfering with child's everyday life. Difficulties within at least one domain of the SDQ were identified in 29/48 (60.4%). Of the cohort, 12/48(25%) had difficulties in the domains of hyperactivity, emotional regulation and conduct. For those with abnormal SDQ scores, there was significant association with lower total Pediatric Quality of Life neuromuscular module scores (odds ratio: 1.09, 95% confidence intervals: 1.02, 1.16, <em>P</em> = 0.009).</div></div><div><h3>Conclusions</h3><div>The study found clinically significant level of emotional and behavioral dysregulation in children/young people with SMA in all categories of motor function, and with negative impact on everyday life. In the context of changing phenotypes and function with treatment, these were evident across varying severities of motor function. These findings support routine mental health surveillance as a means of early identification and intervention, alongside the provision of psychological support to optimize health outcomes.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 81-87"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145605636","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
Beyond Anakinra and Tocilizumab: Additional Adjunctive Therapies in Pediatric New Onset Refractory Status Epilepticus and Febrile Infection-Related Epilepsy Syndrome – A Narrative Review 超越Anakinra和Tocilizumab:儿童新发难治性癫痫持续状态和发热感染相关癫痫综合征的额外辅助治疗-叙述性回顾
IF 2.1 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-02-01 Epub Date: 2025-10-30 DOI: 10.1016/j.pediatrneurol.2025.10.022
Christian Surí-Báez MD, MPH , Han Jun Kim MD , Janice Lester MLS , Robin T. Varughese MD , Sanjeev V. Kothare MD
New onset refractory status epilepticus and febrile infection-related epilepsy syndrome are rare and devastating entities in the pediatric population. While no known therapies have formally been established as the “gold standard” for management of the acute phase, consensus guidelines do establish interleukin therapies such as anakinra and tocilizumab as safe and effective second-line immunotherapeutic options. Despite the use of interleukin therapies, many patients continue to have super refractory status epilepticus. A number of publications (mainly case reports and case series) have described various adjunctive therapies in the management of new onset refractory status epilepticus/febrile infection-related epilepsy syndrome, including neuromodulatory therapies (such as vagal nerve stimulation, deep brain stimulation, and electroconvulsive therapy), surgical resection, noninterleukin immunotherapies (such as intrathecal dexamethasone, intravenous rituximab, and cyclophosphamide), infusions (such as lidocaine and magnesium), and anesthetic agents (such as sevoflurane). Utilizing a modified Preferred Reporting Items for Systematic reviews and Meta-Analyses approach, this narrative review summarizes the effectiveness and safety of second-line immunotherapies such as tocilizumab and anakinra, as well as the various adjunctive third-line therapies that aim to abort seizures and mitigate comorbidities within an intensive care setting, such as prolonged sedation and secondary systemic complications.
新发难治性癫痫持续状态和发热性感染相关癫痫综合征在儿科人群中是罕见的和毁灭性的实体。虽然目前还没有任何已知的治疗方法被正式确定为急性期治疗的“金标准”,但共识指南确实将白细胞介素疗法(如anakinra和tocilizumab)确定为安全有效的二线免疫治疗选择。尽管使用白细胞介素治疗,许多患者仍然有超级难治性癫痫持续状态。许多出版物(主要是病例报告和病例系列)描述了管理新发难治性癫痫持续状态/发热感染相关癫痫综合征的各种辅助疗法,包括神经调节疗法(如迷走神经刺激、深部脑刺激和电休克疗法)、手术切除、非白细胞介素免疫疗法(如鞘内地塞米松、静脉注射利妥昔单抗和环磷酰胺)、输液(如利多卡因和镁)和麻醉剂(如七氟醚)。利用改进的首选报告项目进行系统评价和荟萃分析方法,本叙述性综述总结了二线免疫疗法(如tocilizumab和anakinra)的有效性和安全性,以及各种辅助三线疗法,旨在终止癫痫发作并减轻重症监护环境中的合并症,如延长镇静时间和继发性全身并发症。
{"title":"Beyond Anakinra and Tocilizumab: Additional Adjunctive Therapies in Pediatric New Onset Refractory Status Epilepticus and Febrile Infection-Related Epilepsy Syndrome – A Narrative Review","authors":"Christian Surí-Báez MD, MPH ,&nbsp;Han Jun Kim MD ,&nbsp;Janice Lester MLS ,&nbsp;Robin T. Varughese MD ,&nbsp;Sanjeev V. Kothare MD","doi":"10.1016/j.pediatrneurol.2025.10.022","DOIUrl":"10.1016/j.pediatrneurol.2025.10.022","url":null,"abstract":"<div><div>New onset refractory status epilepticus and febrile infection-related epilepsy syndrome are rare and devastating entities in the pediatric population. While no known therapies have formally been established as the “gold standard” for management of the acute phase, consensus guidelines do establish interleukin therapies such as anakinra and tocilizumab as safe and effective second-line immunotherapeutic options. Despite the use of interleukin therapies, many patients continue to have super refractory status epilepticus. A number of publications (mainly case reports and case series) have described various adjunctive therapies in the management of new onset refractory status epilepticus/febrile infection-related epilepsy syndrome, including neuromodulatory therapies (such as vagal nerve stimulation, deep brain stimulation, and electroconvulsive therapy), surgical resection, noninterleukin immunotherapies (such as intrathecal dexamethasone, intravenous rituximab, and cyclophosphamide), infusions (such as lidocaine and magnesium), and anesthetic agents (such as sevoflurane). Utilizing a modified Preferred Reporting Items for Systematic reviews and Meta-Analyses approach, this narrative review summarizes the effectiveness and safety of second-line immunotherapies such as tocilizumab and anakinra, as well as the various adjunctive third-line therapies that aim to abort seizures and mitigate comorbidities within an intensive care setting, such as prolonged sedation and secondary systemic complications.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 27-39"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145564700","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
Blood Pressure Management and Postoperative Stroke Risk in Pediatric Moyamoya Disease 儿童烟雾病的血压管理和术后卒中风险。
IF 2.1 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-02-01 Epub Date: 2025-11-03 DOI: 10.1016/j.pediatrneurol.2025.10.028
Ria Pal MD, Chrisoula Cheronis MD, Elizabeth Mayne MD, PhD, Gary K. Steinberg MD, PhD, Sarah Lee MD

Background

To assess variability in postoperative blood pressure management and its association with stroke incidence in pediatric Moyamoya disease (MMD) patients undergoing surgical revascularization.

Methods

This retrospective cohort study was conducted at Stanford University Medical Center from 1992 to 2023. It included 109 pediatric MMD patients (≤18 years) who underwent revascularization surgery. The study the study evaluated outpatient systolic blood pressures, inpatient mean arterial pressure targets, and the use of vasoactive medications.

Results

Postoperative blood pressure management varied significantly based on patient age, syndrome group, and preoperative stroke status. There was no correlation between preoperative systolic blood pressure and postoperative blood pressure targets. Vasoactive medications were used in 55% of patients intravenously and 53% orally, often for extended durations, but without a clear association with transient neurological symptoms. Major strokes occurred in 6.4% of patients, primarily within the first postoperative week. Stroke incidence was associated with longer durations of vasoactive therapy (IV: 3.0 vs 0.0 days, P = 0.026; oral: 53.0 vs 0.0 days, P = 0.035), but not with specific blood pressure targets.

Conclusions

There is significant variability in postoperative blood pressure management in pediatric MMD, reflecting the absence of standardized guidelines. The increased risk of stroke during the first postoperative week, particularly among patients receiving prolonged vasoactive therapy, underscores the need for prospective studies to establish individualized hemodynamic targets and reduce practice variability.
背景:评估接受外科血运重建术的儿童烟雾病(MMD)患者术后血压管理的变异性及其与卒中发生率的关系。方法:回顾性队列研究于1992年至2023年在斯坦福大学医学中心进行。纳入109例接受血运重建术的儿童烟雾病患者(≤18岁)。这项研究评估了门诊病人的收缩压,住院病人的平均动脉压目标,以及血管活性药物的使用。结果:术后血压管理根据患者年龄、综合征组和术前卒中状态有显著差异。术前收缩压与术后血压指标无相关性。55%的患者静脉注射血管活性药物,53%的患者口服血管活性药物,通常持续时间较长,但与短暂性神经症状无明显关联。6.4%的患者发生严重中风,主要发生在术后第一周。卒中发生率与较长的血管活性治疗持续时间相关(静脉注射:3.0 vs 0.0天,P = 0.026;口服:53.0 vs 0.0天,P = 0.035),但与特定的血压目标无关。结论:儿童烟雾病术后血压管理存在显著差异,反映了标准化指南的缺乏。术后第一周卒中风险的增加,特别是在接受长期血管活性治疗的患者中,强调了前瞻性研究的必要性,以建立个体化的血流动力学目标并减少实践的可变性。
{"title":"Blood Pressure Management and Postoperative Stroke Risk in Pediatric Moyamoya Disease","authors":"Ria Pal MD,&nbsp;Chrisoula Cheronis MD,&nbsp;Elizabeth Mayne MD, PhD,&nbsp;Gary K. Steinberg MD, PhD,&nbsp;Sarah Lee MD","doi":"10.1016/j.pediatrneurol.2025.10.028","DOIUrl":"10.1016/j.pediatrneurol.2025.10.028","url":null,"abstract":"<div><h3>Background</h3><div>To assess variability in postoperative blood pressure management and its association with stroke incidence in pediatric Moyamoya disease (MMD) patients undergoing surgical revascularization.</div></div><div><h3>Methods</h3><div>This retrospective cohort study was conducted at Stanford University Medical Center from 1992 to 2023. It included 109 pediatric MMD patients (≤18 years) who underwent revascularization surgery. The study the study evaluated outpatient systolic blood pressures, inpatient mean arterial pressure targets, and the use of vasoactive medications.</div></div><div><h3>Results</h3><div>Postoperative blood pressure management varied significantly based on patient age, syndrome group, and preoperative stroke status. There was no correlation between preoperative systolic blood pressure and postoperative blood pressure targets. Vasoactive medications were used in 55% of patients intravenously and 53% orally, often for extended durations, but without a clear association with transient neurological symptoms. Major strokes occurred in 6.4% of patients, primarily within the first postoperative week. Stroke incidence was associated with longer durations of vasoactive therapy (IV: 3.0 vs 0.0 days, <em>P</em> = 0.026; oral: 53.0 vs 0.0 days, <em>P</em> = 0.035), but not with specific blood pressure targets.</div></div><div><h3>Conclusions</h3><div>There is significant variability in postoperative blood pressure management in pediatric MMD, reflecting the absence of standardized guidelines. The increased risk of stroke during the first postoperative week, particularly among patients receiving prolonged vasoactive therapy, underscores the need for prospective studies to establish individualized hemodynamic targets and reduce practice variability.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 19-26"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145564850","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
期刊
Pediatric neurology
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