Pediatric neurology最新文献_第6页

A Scoping Review of Transition to Adult Care in Pediatric-Onset Multiple Sclerosis: An Opportunity to Advance Research 儿科发病多发性硬化症向成人护理过渡的范围审查：一个推进研究的机会

IF 2.1 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology

Pub Date : 2025-11-25 DOI: 10.1016/j.pediatrneurol.2025.11.013

Claudia Gambrah-Lyles MD , Kelsey Barter MD , Michelle Doering MLIS , Soe Mar MD

Background

Pediatric-onset multiple sclerosis (POMS) is a chronic, immune-mediated disease of the central nervous system that accounts for up to 10% of all multiple sclerosis cases. Compared to adult-onset multiple sclerosis, POMS follows a more aggressive course with frequent relapses and earlier disability milestones. A structured transition-to-adult care is critical for maintaining long-term health. While transition-to-adult care has been studied in children with other chronic conditions, there are few transition studies in POMS, leaving youth with POMS vulnerable to poor outcomes. This scoping review aims to synthesize the existing literature on transition-to-adult care in POMS within the broader context of chronic pediatric illness and identify gaps to guide future research.

Methods

We conducted a Preferred Reporting Items for Systematic Reviews and Meta-Analyses–guided scoping review in February 2025 across PubMed, Scopus, Ovid Medline, Web of Science, and Embase databases, using English-language filters. Two independent reviewers screened each record at the title/abstract and full-text stages.

Results

Of 96 articles meeting inclusion criteria, 12 specifically addressed POMS. A range of strategies for transition-to-adult care have been studied in other chronic pediatric conditions, but findings are limited by inconsistent definitions and lack of standardized outcome measures. The POMS-specific literature reveals specific barriers, such as cognitive impairment, fluctuating symptoms, and psychosocial complexity. As a whole, there is limited evidence on the efficacy of targeted interventions to support successful transition-to-adult care.

Conclusions

The evidence for beneficial interventions and strategies in transition-to-adult care in POMS is limited in quantity and scope. Targeted research is needed to develop and evaluate tailored strategies informed by general care plan frameworks and disease-specific needs.

背景：小儿发病多发性硬化症（POMS）是一种慢性、免疫介导的中枢神经系统疾病，占所有多发性硬化症病例的10%。与成人发病的多发性硬化症相比，POMS的病程更具侵袭性，复发频繁，残疾里程碑更早。有组织地过渡到成人护理对维持长期健康至关重要。虽然对患有其他慢性疾病的儿童进行了过渡到成人护理的研究，但对POMS的过渡研究很少，这使得患有POMS的青少年容易受到不良结果的影响。本综述旨在综合现有文献，在更广泛的慢性儿科疾病背景下，在POMS中过渡到成人护理，并找出差距，以指导未来的研究。方法我们于2025年2月在PubMed、Scopus、Ovid Medline、Web of Science和Embase数据库中使用英语筛选器进行了系统评价和meta分析指导范围评价的首选报告项目。两名独立评审员在标题/摘要和全文阶段对每条记录进行筛选。结果96篇符合纳入标准的文献中，有12篇专门涉及POMS。在其他慢性儿科疾病中，已经研究了一系列过渡到成人护理的策略，但由于定义不一致和缺乏标准化的结果测量，研究结果受到限制。poms特异性文献揭示了特定障碍，如认知障碍、波动症状和心理社会复杂性。总的来说，有针对性的干预措施对支持成功过渡到成人护理的有效性的证据有限。结论在POMS过渡到成人护理的有益干预和策略的证据在数量和范围上都是有限的。需要进行有针对性的研究，以根据一般护理计划框架和特定疾病需求制定和评估量身定制的战略。

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引用次数: 0

Pharmacokinetic-Based Dose Adjustment of Selumetinib in 2 Young Children With Neurofibroma 基于药代动力学的塞鲁美替尼在2例幼年神经纤维瘤患者中的剂量调整

IF 2.1 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology

Pub Date : 2025-11-22 DOI: 10.1016/j.pediatrneurol.2025.11.014

Caroline Donzé MD , Charlotte Bérard MD , Gabriel Revon-Rivière MD , Maidou Campana MD , Nicolas André PhD

引用次数: 0

Investigating Cerebral Anomalies in Preterm Infants and Associated Risk Factors With Magnetic Resonance Imaging at Term-Equivalent Age 在足月年龄用磁共振成像研究早产儿脑异常及其相关危险因素。

IF 2.1 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology

Pub Date : 2025-11-20 DOI: 10.1016/j.pediatrneurol.2025.11.012

Nicolas Elbaz MD , Valérie Biran MD, PhD , Chloé Ghozland MSc , Laurie Devisscher MSc , Aline Gonzalez Carpinteiro MSc , Aurélie Bourmaud MD, PhD , Monique Elmaleh-Bergès MD , Lucie Hertz-Pannier MD, PhD , Yann Leprince PhD , Alice Frérot MD , Alice Héneau MD , Jessica Dubois PhD , Marianne Alison MD, PhD

Background

Being born very or extreme preterm is a major source of cerebral anomalies and neurodevelopmental disorders, whose occurrence depends on many perinatal factors. A better understanding of these factors could be provided by cerebral magnetic resonance imaging (MRI) at term-equivalent age (TEA).

Objective

To investigate, through cerebral TEA-MRIs, the relationship between the main perinatal factors, the occurrence of cerebral anomalies, and cerebral volumetry.

Methods

We assembled a cohort of preterm babies born before 32 weeks of gestation who underwent a cerebral TEA-MRI. We assessed cerebral anomalies using a radiological scoring system — the Kidokoro scoring — and performed cerebral volumetry. We investigated the relationships between 9 clinical factors (birth characteristics, resuscitation treatments…), Kidokoro scores, and brain volumes.

Results

Among 110 preterms who underwent a cerebral MRI at TEA, only 6% suffered moderate-to-severe brain anomalies. We identified mechanical ventilation as a risk factor for cerebral anomalies (adjusted odds ratio = 4.6, 95% confidence interval [1.7-12.8]) and prolonged parenteral nutrition as a protective factor for white matter anomalies (adjusted odds ratio = 0.2, 95% confidence interval [0.1-0.8]). Mechanical ventilation (P = 0.01) and being born small for gestational age (P < 0.001) were risk factors for the reduction of cerebral volumes. An increase in brain lesion severity was associated with decreased cerebral volumes (P = 0.016).

Conclusions

Our study highlights the importance of treatment-related perinatal factors on the occurrence of cerebral anomalies in very and extreme preterms, and the interest in using both qualitative (Kidokoro scoring) and quantitative (volumetry) MRI-tools.

背景：极早产或极早产是脑异常和神经发育障碍的主要来源，其发生取决于许多围产期因素。脑磁共振成像（MRI）可以更好地了解这些因素，在期限等效年龄（TEA）。目的：探讨围生期主要因素与脑异常发生、脑容量测定的关系。方法：我们收集了一组妊娠32周前出生的早产儿，他们接受了大脑TEA-MRI检查。我们使用放射学评分系统（Kidokoro评分）评估脑异常，并进行脑容量测定。我们调查了9个临床因素（出生特征、复苏治疗……）、Kidokoro评分和脑容量之间的关系。结果：在110名在TEA接受脑MRI检查的早产儿中，只有6%患有中度至重度脑异常。我们确定机械通气是脑异常的危险因素（校正优势比= 4.6,95%可信区间[1.7-12.8]），延长肠外营养是白质异常的保护因素（校正优势比= 0.2,95%可信区间[0.1-0.8]）。机械通气（P = 0.01）和出生时胎龄小（P < 0.001）是脑容量减小的危险因素。脑损伤严重程度的增加与脑容量的减少相关（P = 0.016）。结论：我们的研究强调了治疗相关的围产期因素对非常早产和极端早产大脑异常发生的重要性，以及使用定性（Kidokoro评分）和定量（体积测定）mri工具的兴趣。

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引用次数: 0

Lacosamide-Induced Drug Rash With Eosinophilia and Systemic Symptoms Syndrome in a Pediatric Patient: A Case Report 拉可沙胺致药物性皮疹伴嗜酸性粒细胞增多和全身症状综合征1例。

IF 2.1 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology

Pub Date : 2025-11-19 DOI: 10.1016/j.pediatrneurol.2025.11.006

Peyton Tempel BA , Nayana Prabhu MD , Meagan Hainlen MD , Afsaneh Talai MD

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

Pediatric neurology

Pub 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

Sex Disparities in Neonatal Arterial Ischemic Stroke: Larger Lesion Volume and More Severe Long-Term Disability in Male Infants 新生儿动脉缺血性卒中的性别差异：男性婴儿病变体积较大，长期残疾更严重。

IF 2.1 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology

Pub Date : 2025-11-15 DOI: 10.1016/j.pediatrneurol.2025.11.010

Alfredo García-Alix MD, PhD , Christian Núñez PhD , Gemma Arca MD, PhD , Juan Arnaez MD, PhD , Thais Agut MD, PhD , Malaika Cordeiro MD, PhD , Nuria Boronat MD, PhD , Isabel Benavente-Fernández MD, PhD , Simón Lubián MD, PhD , Eva Valverde MD, PhD , Christian Stephan-Otto PhD

Background

To examine the relationship between sex and infarct volume in neonatal arterial ischemic stroke (NAIS) and to compare the functional outcomes of male and female infants at 2 years of age.

Methods

A prospective observational multicenter study was conducted in 6 hospitals in Spain. Sixty-four consecutive infants with idiopathic and symptomatic NAIS were recruited. Lesion masks were created to determine NAIS volume and location. Data on acute-phase symptoms, including seizure occurrence and anticonvulsant drugs use, and on functional outcomes at 2 years, including need for speech therapy, were collected. Dichotomous categorical variables were compared between males and females using chi-square or logistic regression tests, while differences in continuous variables were assessed by means of t-tests. Analysis of covariance or logistic regression was performed to adjust for infarct volume.

Results

Male infants presented a higher prevalence of NAIS compared to females (61% vs 39%). In addition, males showed larger infarct volumes and a differential pattern in the spatial distribution of lesions (P < 0.05). The male group also presented higher rates of postnatal epilepsy (41% vs 12%; P = 0.019), need for speech therapy (58% vs 24%; P = 0.010), and strabismus at 2 years of age (18% vs 0%).

Conclusions

Our results point to larger infarct volumes and a worse outcome in males affected by NAIS. These results, together with further studies on the differential effects associated with sex in the context of NAIS, may shape new sex-specific neuroprotective strategies and follow-up plans.

背景：研究新生儿动脉缺血性脑卒中（NAIS）中性别与梗死面积的关系，并比较2岁时男女婴儿的功能结局。方法：在西班牙6家医院进行前瞻性观察性多中心研究。连续招募64名患有特发性和症状性NAIS的婴儿。制作病变遮罩以确定NAIS的体积和位置。收集急性期症状的数据，包括癫痫发作和抗惊厥药物的使用，以及2年时的功能结局，包括是否需要言语治疗。采用卡方检验或逻辑回归检验比较男女之间的二分分类变量，采用t检验评估连续变量的差异。进行协方差分析或逻辑回归来调整梗死面积。结果：男婴的NAIS患病率高于女婴（61%比39%）。此外，男性表现出更大的梗死体积和病变空间分布的差异模式（P < 0.05）。男性组也表现出较高的产后癫痫发生率（41%对12%，P = 0.019），需要言语治疗（58%对24%，P = 0.010）和2岁时斜视（18%对0%）。结论：我们的研究结果表明，受NAIS影响的男性梗死面积更大，预后更差。这些结果，以及对NAIS背景下与性别相关的差异效应的进一步研究，可能会形成新的性别特异性神经保护策略和后续计划。

{"title":"Sex Disparities in Neonatal Arterial Ischemic Stroke: Larger Lesion Volume and More Severe Long-Term Disability in Male Infants","authors":"Alfredo García-Alix MD, PhD , Christian Núñez PhD , Gemma Arca MD, PhD , Juan Arnaez MD, PhD , Thais Agut MD, PhD , Malaika Cordeiro MD, PhD , Nuria Boronat MD, PhD , Isabel Benavente-Fernández MD, PhD , Simón Lubián MD, PhD , Eva Valverde MD, PhD , Christian Stephan-Otto PhD","doi":"10.1016/j.pediatrneurol.2025.11.010","DOIUrl":"10.1016/j.pediatrneurol.2025.11.010","url":null,"abstract":"<div><h3>Background</h3><div>To examine the relationship between sex and infarct volume in neonatal arterial ischemic stroke (NAIS) and to compare the functional outcomes of male and female infants at 2 years of age.</div></div><div><h3>Methods</h3><div>A prospective observational multicenter study was conducted in 6 hospitals in Spain. Sixty-four consecutive infants with idiopathic and symptomatic NAIS were recruited. Lesion masks were created to determine NAIS volume and location. Data on acute-phase symptoms, including seizure occurrence and anticonvulsant drugs use, and on functional outcomes at 2 years, including need for speech therapy, were collected. Dichotomous categorical variables were compared between males and females using chi-square or logistic regression tests, while differences in continuous variables were assessed by means of t-tests. Analysis of covariance or logistic regression was performed to adjust for infarct volume.</div></div><div><h3>Results</h3><div>Male infants presented a higher prevalence of NAIS compared to females (61% vs 39%). In addition, males showed larger infarct volumes and a differential pattern in the spatial distribution of lesions (<em>P</em> < 0.05). The male group also presented higher rates of postnatal epilepsy (41% vs 12%; <em>P</em> = 0.019), need for speech therapy (58% vs 24%; <em>P</em> = 0.010), and strabismus at 2 years of age (18% vs 0%).</div></div><div><h3>Conclusions</h3><div>Our results point to larger infarct volumes and a worse outcome in males affected by NAIS. These results, together with further studies on the differential effects associated with sex in the context of NAIS, may shape new sex-specific neuroprotective strategies and follow-up plans.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 130-138"},"PeriodicalIF":2.1,"publicationDate":"2025-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145678449","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

Efficacy of Zoledronic Acid on Bone Mineral Density in Boys With Duchenne Muscular Dystrophy: A Prospective Observational Study 唑来膦酸对男孩杜氏肌营养不良患者骨密度的影响：一项前瞻性观察研究

IF 2.1 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology

Pub Date : 2025-11-14 DOI: 10.1016/j.pediatrneurol.2025.11.007

Santashree Chatterjee MD , Renu Suthar MD, DM , Tulika Singh MD , Mini Tageja MSc , Jaivinder Yadav MD , Harvinder Kaur PhD , Arushi G. Saini MD, DM , Savita Verma Attri PhD

Background

To evaluate the efficacy and safety of intravenous zoledronic acid (ZA) in improving bone mineral density (BMD) and reducing bone turnover in boys with Duchenne muscular dystrophy (DMD) from North India.

Methods

In this prospective study, boys aged 5-18 years with genetically confirmed diagnosis of DMD, and either a history of low-impact long-bone or vertebral compression fractures (VCFs), or a lumbar spine/right femur neck dual-energy x-ray absorptiometry (DXA) BMD ≤ −2 z-score for age were enrolled. ZA was administered in three doses (total 0.125 mg/kg/year) at 3-month intervals. Outcomes assessed at 12 ± 2 months included changes in lumbar spine and femur neck BMD z-scores, VCFs number and grade, serum C-terminal telopeptide of type 1 collagen (CTX) levels, back pain, functional status, and quality of life.

Results

Fifty-five boys (mean age 10.7 ± 2.4 years) were enrolled. Seven boys (13%) had 8 long-bone fractures, and 33 (60%) had 86 VCFs on spine radiographs. Lumbar spine BMD z-score improved by 0.67 (95% confidence interval: 0.42-0.91; P = 0.001), and femur neck z-score by 0.49 (95% confidence interval: 0.06-0.93; P < 0.001). VCFs prevalence remained unchanged, though 26.7% developed new grade 1 VCFs. Mean serum CTX levels decreased from 0.488 to 0.179 ng/mL post ZA therapy (P < 0.001). ZA was well tolerated with no serious adverse events. Functional status and quality-of-life scores remained stable.

Conclusions

Intravenous ZA significantly improved BMD and reduced bone turnover in boys with DMD without major adverse effects.

背景：评价静脉注射唑来膦酸（ZA）改善印度北部男孩杜氏肌营养不良症（DMD）患者骨密度（BMD）和减少骨代谢的有效性和安全性。方法在这项前瞻性研究中，纳入了年龄在5-18岁、遗传确诊为DMD、有低冲击长骨或椎体压缩性骨折（VCFs）病史，或腰椎/右股骨颈双能x线骨密度测量（DXA）骨密度≤- 2 z-score（年龄）的男孩。ZA分三次给药（总剂量0.125 mg/kg/年），间隔3个月。12±2个月时评估的结果包括腰椎和股骨颈BMD z-评分、vcf数量和分级、血清1型胶原c末端末端肽（CTX）水平、背部疼痛、功能状态和生活质量的变化。结果入组55名男孩，平均年龄10.7±2.4岁。7名男孩（13%）有8个长骨骨折，33名（60%）脊柱x线片上有86个vcf。腰椎BMD z-score提高了0.67(95%可信区间：0.42-0.91;P = 0.001)，股骨颈z-score提高了0.49（95%可信区间：0.06-0.93;P < 0.001）。vcf的患病率保持不变，但26.7%的患者发生了新的1级vcf。ZA治疗后，平均血清CTX水平从0.488降至0.179 ng/mL （P < 0.001）。ZA耐受性良好，无严重不良事件。功能状态和生活质量评分保持稳定。结论静脉注射ZA可明显改善DMD患儿的骨密度，减少骨转换，无明显不良反应。

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引用次数: 0

Inebilizumab: Pediatric Case Series in Anti-Aquaporin 4 Antibody Positive Neuromyelitis Optica Spectrum Disorder Inebilizumab：抗水通道蛋白4抗体阳性神经脊髓炎视谱障碍的儿科病例系列。

IF 2.1 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology

Pub Date : 2025-11-14 DOI: 10.1016/j.pediatrneurol.2025.11.008

Darina Dinov DO, Denise Maddox BSN, Benjamin M. Greenberg MD, MHS

Background

Neuromyelitis Optica Spectrum Disorder (NMOSD) is an autoimmune condition which can be diagnosed either based on a constellation of neurological symptoms and/or a positive anti-aquaporin 4 antibody. About 3-5% of all cases occur in pediatric patients, and currently there are no FDA-approved therapies for patients under the age of 18 years for NMOSD. There are currently 4 FDA-approved medications for adults with seropositive NMOSD-eculizumab, inebilizumab, satralizumab, and ravulizumab.

Methods/Results

Herein, we present a case series of four patients who have seropositive NMOSD and are on inebilizumab. All four patients have had two courses of this medication and have tolerated it well. There was not a significant burden of side effects, and none of the patients have presented with relapses.

Conclusions

This study adds to the literature because it shows that in our cohort inebilizumab was a safe medication for pediatric patients with NMOSD and prevented further relapses.

背景：视神经脊髓炎光谱障碍（NMOSD）是一种自身免疫性疾病，可根据一系列神经系统症状和/或抗水通道蛋白4抗体阳性诊断。大约3-5%的病例发生在儿科患者中，目前fda还没有批准用于18岁以下NMOSD患者的治疗方法。目前有4种fda批准的药物用于NMOSD-eculizumab、inebilizumab、satralizumab和ravulizumab血清阳性的成人。方法/结果：在此，我们提出了一个由4例血清NMOSD阳性患者组成的病例系列，这些患者正在接受依胆单抗治疗。所有四名患者都接受了两个疗程的药物治疗，并且耐受性良好。没有明显的副作用负担，也没有患者出现复发。结论：这项研究增加了文献，因为它表明在我们的队列中，inebilizumab是一种安全的NMOSD儿科患者药物，并防止进一步复发。

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引用次数: 0

Tactile Hallucinations in Pediatric and Young Adults With Narcolepsy: A Case Series and Review of the Literature 儿童和青少年发作性睡病患者的触觉幻觉：一个病例系列和文献综述

IF 2.1 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology

Pub Date : 2025-11-14 DOI: 10.1016/j.pediatrneurol.2025.11.009

Joel Willard MD , David Velez MD , Christian Suri Baez MD , Christine Palladino NP , Ivan Pavkovic MD , Robin T. Varughese MD , Sanjeev V. Kothare MD

Background

To characterize the presentation and management of tactile hallucinations in pediatric and young adult patients with narcolepsy and explore the relationship between fragmented sleep, pharmacologic therapy, and psychiatric comorbidities.

Methods

We describe four cases (ages 9, 11, 26, and 42 years) of persistent and distressing tactile hallucinations out of 55 narcolepsy patients seen at our institution. We reviewed clinical presentation, polysomnography, multiple sleep latency tests, neuroimaging, and therapeutic responses.

Results

All patients exhibited excessive daytime sleepiness, and three had cataplexy. Cerebrospinal fluid orexin was low-normal in one patient. Polysomnography and multiple sleep latency tests supported the diagnosis of narcolepsy in all cases. All patients had tactile hallucinations characterized by formication and paresthesias and often exacerbated by oxybate therapy. Fragmented nocturnal sleep was common and was associated with increased hallucination severity. In one case, hallucinations contributed to suicidal ideation requiring inpatient care. Hallucinations persisted despite pharmacological adjustments, although behavioral adaptations (e.g., wearing loose clothing) and psychotherapy helped one patient. Literature review links fragmented sleep to heightened hallucinatory experiences, especially tactile forms. Oxybates, while effective for cataplexy, visual hallucinations, and daytime sleepiness, may potentiate psychotic symptoms, including tactile hallucinations.

Conclusions

Tactile hallucinations in narcolepsy may represent an under-recognized and distressing symptom. Fragmented sleep, rapid eye movement dysregulation, and pharmacologic side effects contribute to their emergence. Management requires a multidisciplinary approach integrating sleep medicine and psychiatry. Clinicians should consider hallucination profiles when titrating oxybates and explore adjunctive therapies for symptomatic relief.

研究背景：探讨儿童和青少年发作性睡病患者的触觉幻觉的表现和处理，并探讨睡眠片段化、药物治疗和精神合并症之间的关系。方法对55例发作性睡病患者中4例（年龄9岁、11岁、26岁和42岁）出现持续性和疼痛性触觉幻觉。我们回顾了临床表现、多导睡眠图、多次睡眠潜伏期测试、神经成像和治疗反应。结果所有患者均表现为白天嗜睡，其中3例发生猝倒。1例脑脊液食欲素低正常。多导睡眠图和多次睡眠潜伏期试验支持所有病例的发作性睡病诊断。所有患者均有以形成和感觉异常为特征的触觉幻觉，并常因氧酸盐治疗而加重。夜间断断续续的睡眠很常见，并且与幻觉的严重程度增加有关。在一个案例中，幻觉导致自杀意念，需要住院治疗。尽管进行了药物调整，但幻觉仍然存在，尽管行为适应（例如，穿宽松的衣服）和心理治疗对一名患者有所帮助。文献综述将断断续续的睡眠与增强的幻觉体验联系起来，尤其是触觉形式。羟苯乙酯虽然对猝倒、视幻觉和白天嗜睡有效，但可能加剧精神病症状，包括触觉幻觉。结论发作性睡病患者的活动性幻觉可能是一种未被充分认识的痛苦症状。睡眠碎片化、快速眼动失调和药物副作用是其发生的原因。管理需要多学科方法整合睡眠医学和精神病学。临床医生在滴定羟贝茨时应考虑幻觉特征，并探索辅助治疗以缓解症状。

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引用次数: 0

Combined Use of Electroencephalography and Magnetic Resonance Imaging in the Prognostication of Neurodevelopmental Outcomes in Preterm Infants — A Systematic Review and Meta-Analysis 联合使用脑电图和磁共振成像预测早产儿神经发育结局——系统回顾和荟萃分析。

IF 2.1 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology

Pub Date : 2025-11-13 DOI: 10.1016/j.pediatrneurol.2025.11.005

Corey D. Forrest MBBS, MPHTM , Tommaso Biagioni MBBS , Helen G. Liley MBChB , Melissa M. Lai PhD, MBBS , Paul B. Colditz PhD, MBBS , Robert S. Ware PhD , Roslyn N. Boyd PhD , James A. Roberts PhD

Background

Neurological injury remains a major cause of neurodevelopmental morbidity in preterm-born infants. Accurate prognostication is essential for support of families and to target interventions. Electroencephalography (EEG) and magnetic resonance imaging (MRI) can be used to precisely assess brain function and structure in preterm infants. This systematic review assessed the prognostic capacity of EEG and MRI alone, and in combination, for the prediction of neurodevelopmental outcomes in preterm-born infants.

Methods

PubMed, Embase, Web of Science, and Cochrane databases were searched from inception until April 22, 2025. Studies were included if they examined the use of both MRI and EEG in preterm-born infants to predict neurodevelopmental outcomes.

Results

From 1669 records screened, 12 studies reporting 1630 infants were included in the systematic review. Of these 12, seven were sufficiently homogenous for quantitative meta-analysis, yielding pooled sensitivity and specificity values across 952 infants: EEG prognosticated abnormal neurodevelopmental outcomes with sensitivity 64% (95% confidence interval [CI] 48-80%) and specificity 70% (95% CI 59-81%); MRI prognosticated abnormal neurodevelopmental outcomes with sensitivity 64% (95% CI 48-80%) and specificity 89% (95% CI 81-97%). Three of these seven studies, reporting 372 infants, were sufficiently comparable to meta-analyze the combination of EEG and MRI, which predicted neurodevelopmental outcome with sensitivity 70% (95% CI 49-90%) and specificity 96% (95% CI 93-100%).

Conclusions

The combined use of EEG and MRI can predict abnormal neurodevelopment in preterm-born infants with high sensitivity and specificity and was superior to either test in isolation; however, data are limited as multimodal neurological-assessment is still an emerging practice in neonates.

背景：神经损伤仍然是早产婴儿神经发育疾病的主要原因。准确的预测对于支持家庭和有针对性的干预措施至关重要。脑电图（EEG）和磁共振成像（MRI）可用于准确评估早产儿的大脑功能和结构。本系统综述评估了脑电图和MRI单独或联合用于预测早产儿神经发育结局的预后能力。方法：检索PubMed、Embase、Web of Science和Cochrane数据库，检索时间从建库到2025年4月22日。如果研究同时使用核磁共振成像和脑电图来预测早产儿的神经发育结果，则纳入研究。结果：从筛选的1669份记录中，有12项研究报告了1630名婴儿被纳入系统评价。在这12例中，有7例具有足够的同质性，可以进行定量荟萃分析，得出952例婴儿的综合敏感性和特异性值：脑电图预测异常神经发育结局的敏感性为64%(95%置信区间[CI] 48-80%)，特异性为70% (95% CI 59-81%)；MRI预测异常神经发育结局的敏感性为64% (95% CI 48-80%)，特异性为89% （95% CI 81-97%）。这7项研究中，有3项报告了372名婴儿，与脑电图和MRI结合的荟萃分析具有足够的可比性，预测神经发育结局的敏感性为70% (95% CI 49-90%)，特异性为96% （95% CI 93-100%）。结论：脑电图与MRI联合应用预测早产儿神经发育异常具有较高的敏感性和特异性，优于单独应用；然而，数据是有限的，因为在新生儿中，多模式神经评估仍然是一种新兴的实践。

{"title":"Combined Use of Electroencephalography and Magnetic Resonance Imaging in the Prognostication of Neurodevelopmental Outcomes in Preterm Infants — A Systematic Review and Meta-Analysis","authors":"Corey D. Forrest MBBS, MPHTM , Tommaso Biagioni MBBS , Helen G. Liley MBChB , Melissa M. Lai PhD, MBBS , Paul B. Colditz PhD, MBBS , Robert S. Ware PhD , Roslyn N. Boyd PhD , James A. Roberts PhD","doi":"10.1016/j.pediatrneurol.2025.11.005","DOIUrl":"10.1016/j.pediatrneurol.2025.11.005","url":null,"abstract":"<div><h3>Background</h3><div>Neurological injury remains a major cause of neurodevelopmental morbidity in preterm-born infants. Accurate prognostication is essential for support of families and to target interventions. Electroencephalography (EEG) and magnetic resonance imaging (MRI) can be used to precisely assess brain function and structure in preterm infants. This systematic review assessed the prognostic capacity of EEG and MRI alone, and in combination, for the prediction of neurodevelopmental outcomes in preterm-born infants.</div></div><div><h3>Methods</h3><div>PubMed, Embase, Web of Science, and Cochrane databases were searched from inception until April 22, 2025. Studies were included if they examined the use of both MRI and EEG in preterm-born infants to predict neurodevelopmental outcomes.</div></div><div><h3>Results</h3><div>From 1669 records screened, 12 studies reporting 1630 infants were included in the systematic review. Of these 12, seven were sufficiently homogenous for quantitative meta-analysis, yielding pooled sensitivity and specificity values across 952 infants: EEG prognosticated abnormal neurodevelopmental outcomes with sensitivity 64% (95% confidence interval [CI] 48-80%) and specificity 70% (95% CI 59-81%); MRI prognosticated abnormal neurodevelopmental outcomes with sensitivity 64% (95% CI 48-80%) and specificity 89% (95% CI 81-97%). Three of these seven studies, reporting 372 infants, were sufficiently comparable to meta-analyze the combination of EEG and MRI, which predicted neurodevelopmental outcome with sensitivity 70% (95% CI 49-90%) and specificity 96% (95% CI 93-100%).</div></div><div><h3>Conclusions</h3><div>The combined use of EEG and MRI can predict abnormal neurodevelopment in preterm-born infants with high sensitivity and specificity and was superior to either test in isolation; however, data are limited as multimodal neurological-assessment is still an emerging practice in neonates.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 116-129"},"PeriodicalIF":2.1,"publicationDate":"2025-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145669146","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}

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