Pediatric neurology最新文献_第8页

Incorporating Measures of Cognitive Processing Speed and Brain Volume in Clinical Management of Pediatric Onset Multiple Sclerosis 儿童起病多发性硬化症临床管理中认知处理速度和脑容量测量的结合

IF 2.1 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology

Pub Date : 2025-11-05 DOI: 10.1016/j.pediatrneurol.2025.10.027

Anna Sosa BS , Kimberly A. O'Neill MD , Thibo Billiet PhD , Jingyun Chen PhD , Laura Couvreur MD , Stijn Denissen PhD , Matthew Lustberg MA , Shayna Pehel BS , Annemie Ribbens PhD , Lauren Krupp MD

Background

While cognitive processing and brain volume assessments are commonly used in multiple sclerosis (MS) research, they are not routinely incorporated into clinical care. Advances in neuroimaging software now allow for brain volume measurement to be incorporated into standard practice and guide clinical decision-making.

Methods

In this single-center, outpatient, cohort study, pediatric-onset multiple sclerosis (POMS) patients underwent at least two volumetric brain magnetic resonance imagings (MRIs) and two Symbol Digit Modalities Tests (SDMT) at least 6 months apart. Associations were analyzed using Pearson's correlation coefficient and linear regressions.

Results

Forty patients with POMS were included. The first volumetric brain MRI occurred at a median of 2.7 years after symptom onset. At the first volumetric MRI, 12% of patients had white matter brain volumes within 1% of normative values (n = 2000 healthy controls). Whole brain volume percentile (r = 0.4, P = 0.01), white matter percentile (r = 0.4, P = 0.01), and white matter lesion volume (r = −0.4, P = 0.005) were associated with SDMT score. Annualized percent brain volume change of the hippocampus (measured a median of 1.6 years apart) significantly correlated with follow-up SDMT (r = 0.4, P = 0.02), and annualized percent brain volume change of the thalamus correlated with annual change in SDMT z-score (r = 0.4, P = 0.009).

Conclusions

Application of new software allows for volumetric assessment to be incorporated into clinical scans and provides clinicians with added data for patient management. This is critical for patients with POMS as the neurological examination often shows few to no abnormalities. Furthermore, a subset of POMS patients have smaller than expected brain volume which links to subsequent poorer cognitive performance.

虽然认知处理和脑容量评估通常用于多发性硬化症（MS）研究，但它们并未常规纳入临床护理。神经成像软件的进步现在允许脑容量测量纳入标准实践并指导临床决策。方法在这项单中心、门诊、队列研究中，儿科发病多发性硬化症（POMS）患者至少间隔6个月接受了两次脑容量磁共振成像（mri）和两次符号数字模式测试（SDMT）。使用Pearson相关系数和线性回归分析相关性。结果共纳入40例POMS患者。第一次脑容量MRI在症状出现后的中位时间为2.7年。在第一次体积MRI中，12%的患者的白质脑体积在正常值的1%以内（n = 2000名健康对照）。全脑体积百分位数（r = 0.4, P = 0.01）、白质百分位数（r = 0.4, P = 0.01）、白质病变体积（r = - 0.4, P = 0.005）与SDMT评分相关。海马年化脑容量变化百分比（测量中位数间隔1.6年）与随访SDMT显著相关（r = 0.4, P = 0.02），丘脑年化脑容量变化百分比与SDMT z-score年化变化相关（r = 0.4, P = 0.009）。新软件的应用允许容积评估纳入临床扫描，并为临床医生提供患者管理的额外数据。这对POMS患者至关重要，因为神经学检查通常显示很少或没有异常。此外，一部分POMS患者的脑容量小于预期，这与随后较差的认知表现有关。

{"title":"Incorporating Measures of Cognitive Processing Speed and Brain Volume in Clinical Management of Pediatric Onset Multiple Sclerosis","authors":"Anna Sosa BS , Kimberly A. O'Neill MD , Thibo Billiet PhD , Jingyun Chen PhD , Laura Couvreur MD , Stijn Denissen PhD , Matthew Lustberg MA , Shayna Pehel BS , Annemie Ribbens PhD , Lauren Krupp MD","doi":"10.1016/j.pediatrneurol.2025.10.027","DOIUrl":"10.1016/j.pediatrneurol.2025.10.027","url":null,"abstract":"<div><h3>Background</h3><div>While cognitive processing and brain volume assessments are commonly used in multiple sclerosis (MS) research, they are not routinely incorporated into clinical care. Advances in neuroimaging software now allow for brain volume measurement to be incorporated into standard practice and guide clinical decision-making.</div></div><div><h3>Methods</h3><div>In this single-center, outpatient, cohort study, pediatric-onset multiple sclerosis (POMS) patients underwent at least two volumetric brain magnetic resonance imagings (MRIs) and two Symbol Digit Modalities Tests (SDMT) at least 6 months apart. Associations were analyzed using Pearson's correlation coefficient and linear regressions.</div></div><div><h3>Results</h3><div>Forty patients with POMS were included. The first volumetric brain MRI occurred at a median of 2.7 years after symptom onset. At the first volumetric MRI, 12% of patients had white matter brain volumes within 1% of normative values (n = 2000 healthy controls). Whole brain volume percentile (r = 0.4, <em>P</em> = 0.01), white matter percentile (r = 0.4, <em>P</em> = 0.01), and white matter lesion volume (r = −0.4, <em>P</em> = 0.005) were associated with SDMT score. Annualized percent brain volume change of the hippocampus (measured a median of 1.6 years apart) significantly correlated with follow-up SDMT (r = 0.4, <em>P</em> = 0.02), and annualized percent brain volume change of the thalamus correlated with annual change in SDMT z-score (r = 0.4, <em>P</em> = 0.009).</div></div><div><h3>Conclusions</h3><div>Application of new software allows for volumetric assessment to be incorporated into clinical scans and provides clinicians with added data for patient management. This is critical for patients with POMS as the neurological examination often shows few to no abnormalities. Furthermore, a subset of POMS patients have smaller than expected brain volume which links to subsequent poorer cognitive performance.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 50-57"},"PeriodicalIF":2.1,"publicationDate":"2025-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145571169","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

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

Pediatric neurology

Pub 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 , Kristen Bolte DO , Shilpa B. Reddy MD , Mark Rodeghier PhD , 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> < 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 >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":"2025-11-04","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

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

Pediatric neurology

Pub 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 , Didu S. Kariyawasam PhD , Karen Herbert DPT , Hugo A. Sampaio MBBS , Esther Tantsis PhD , 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":"2025-11-04","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

Reply to Chen et al. “A Postmarketing Pharmacovigilance Study of Fenfluramine: Adverse Event Data Mining and Analysis Based on the US Food and Drug Administration Public Data Open Project (openFDA)” 答复Chen等人“芬氟拉明上市后药物警戒研究：基于美国食品药品监督管理局公共数据开放项目（openFDA）的不良事件数据挖掘与分析”

IF 2.1 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology

Pub Date : 2025-11-04 DOI: 10.1016/j.pediatrneurol.2025.10.025

Ann Biehl PharmD, MS, Lionel Van Holle MS, Nayla Chaijale PhD, Rebecca Zhang Roper MD, PhD

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

Pediatric neurology

Pub 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, Chrisoula Cheronis MD, Elizabeth Mayne MD, PhD, Gary K. Steinberg MD, PhD, 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":"2025-11-03","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

Friedreich Ataxia Friedreich Ataxia .

IF 2.1 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology

Pub Date : 2025-11-01 DOI: 10.1016/j.pediatrneurol.2025.10.020

S.H. Subramony MD , David R. Lynch MD, PhD

With the introduction of potential new therapy for Friedreich ataxia, the disorder has taken on a new importance in the world of pediatric neurology. Originally described more than 150 years ago, large scale clinical studies have defined diagnostic criteria and the underlying mutation as a biallelic, unstable expansion of an intronic guanine adenine adenine repeat in chromosome 9. In this review, we summarize the clinical features, routine management, pathophysiology, and emerging therapies for this devastating disease. The recent approval of omaveloxolone makes recognition of Friedreich ataxia and its treatment essential for all pediatric neurologists.

随着弗里德里希共济失调的潜在新疗法的引入，这种疾病在儿科神经病学的世界中具有新的重要性。150多年前，大规模的临床研究将诊断标准和潜在突变定义为双等位基因，9号染色体上鸟嘌呤腺嘌呤重复序列的不稳定扩增。在这篇综述中，我们总结了临床特点，常规管理，病理生理学，和新兴的治疗方法，这种毁灭性的疾病。最近批准的奥马维洛酮使所有儿科神经学家认识到弗里德赖希共济失调及其治疗是必不可少的。

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

Pediatric neurology

Pub 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。

{"title":"Preliminary Outcomes of Central Responsive Neurostimulation for Multifocal Epilepsy in Pediatric Patients","authors":"Marian Michael Bercu MD, MSc , Kathryn E. Spykman BSN , Velisa M. Johnson PhD , Angel W. Hernandez MD","doi":"10.1016/j.pediatrneurol.2025.10.026","DOIUrl":"10.1016/j.pediatrneurol.2025.10.026","url":null,"abstract":"<div><h3>Background</h3><div>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.</div></div><div><h3>Methods</h3><div>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.</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Conclusions</h3><div>The preliminary outcomes suggest a robust response to central neurostimulation in pediatric patients suffering from multifocal DRE, with an excellent safety profile.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 40-49"},"PeriodicalIF":2.1,"publicationDate":"2025-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145571168","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

Living With Rett Syndrome: From Discovery to Clinical Advancements and Emerging Therapies 生活与Rett综合征：从发现到临床进展和新兴疗法

IF 2.1 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology

Pub Date : 2025-10-31 DOI: 10.1016/j.pediatrneurol.2025.10.021

Sasha Taluri BS , Alan K. Percy MD , Amitha L. Ananth MD

There has been remarkable progress made in the understanding of Rett syndrome, with only 57 years between the description of a phenotype and its first FDA-approved treatment. In this review, we will discuss this history and the genetics of Rett syndrome and examine the clinical features of the condition, with particular attention to the progression of symptoms over time. Genotype-phenotype correlations will be reviewed. Clinical management strategies, including specific symptom management and disease modifying therapy, will be discussed. The review will end with a brief discussion of current and future research directions.

在对Rett综合征的理解方面已经取得了显著的进展，从描述一种表型到fda批准的第一种治疗方法仅用了57年。在这篇综述中，我们将讨论Rett综合征的病史和遗传学，并检查该疾病的临床特征，特别关注症状随时间的进展。基因型-表型相关性将被回顾。将讨论临床管理策略，包括特定症状管理和疾病修饰治疗。最后简要讨论了当前和未来的研究方向。

引用次数: 0

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study 男性x连锁肌酸转运蛋白缺乏的纵向特征：一项多年观察研究的最终结果

IF 2.1 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology

Pub Date : 2025-10-30 DOI: 10.1016/j.pediatrneurol.2025.10.023

Judith S. Miller PhD , Cristan Farmer PhD , Susan Blair MS, PT , Simona Bianconi MD , Natacha Akshoomoff PhD , Irina Anselm MD , Bruce A. Barshop MD, PhD , Lindsey Becker BS , Amanda E. Bennett MD, MPH , Leandra N. Berry PhD , Elizabeth M. Berry-Kravis MD, PhD , Aleksandra Bruchey PhD , Anna W. Byars PhD , Tricia Cimms MPH , Kim M. Cecil PhD , Maxine Covello BS , Laura S. Cubit PhD , Tanvi Das PhD , Robert J. Davis PharmD , Madison Drye BS , Audrey Thurm PhD

Background

The purpose of the Vigilan observational study (ClinicalTrials.gov, NCT02931682) was to prospectively assess the natural history and developmental course of creatine transporter deficiency (CTD).

Methods

Males with CTD aged 6 months to 65 years were evaluated at 6-month intervals for up to 4 years. Evaluations included neurodevelopmental assessments of intellectual functioning, adaptive functioning, and challenging behaviors and the onset and progression of medical comorbidities.

Results

Fifty participants (median age, 7.6 years) were enrolled. The predominant CTD phenotype consisted of significant intellectual disabilities and limited skill development over time. Most participants had a history of febrile or nonfebrile seizures, gastrointestinal symptoms, and growth failure. All participants learned how to walk, 78% developed at least some verbal speech, and 34% communicated using phrases or sentences. Norm-referenced neurodevelopment assessments indicated declining standardized scores over time; however, absolute scores (i.e., age equivalent person ability scores) indicated that developmental gains were slower than average, particularly among older participants. Between-person differences in neurodevelopmental skills as a function of age did not match within-person change, suggesting a cohort effect.

Conclusions

In this cohort, CTD was associated with significant and persistent intellectual disability. The use of absolute metrics from neurodevelopmental tests (e.g., person ability scores) allowed for the quantification of slow, but present, skill development.

Vigilan观察性研究（ClinicalTrials.gov, NCT02931682）的目的是前瞻性评估肌酸转运蛋白缺乏症（CTD）的自然历史和发展过程。方法以6个月至65岁的CTD患者为研究对象，每隔6个月随访4年。评估包括对智力功能、适应性功能和挑战性行为的神经发育评估，以及医学合并症的发生和进展。结果50名参与者（中位年龄7.6岁）入组。随着时间的推移，主要的CTD表型包括显著的智力残疾和有限的技能发展。大多数参与者有发热性或非发热性惊厥、胃肠道症状和生长衰竭史。所有的参与者都学会了走路，78%的人至少学会了一些口头语言，34%的人使用短语或句子进行交流。参照标准的神经发育评估表明，随着时间的推移，标准化分数不断下降；然而，绝对分数（即与年龄相当的人的能力分数）表明，发展的进步比平均水平慢，特别是在老年参与者中。随着年龄的增长，人与人之间神经发育技能的差异与人与人之间的变化并不相符，这表明存在队列效应。结论在本队列中，CTD与显著且持续的智力残疾相关。使用来自神经发育测试的绝对指标（例如，人的能力得分）可以量化缓慢但现在的技能发展。

{"title":"Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study","authors":"Judith S. Miller PhD , Cristan Farmer PhD , Susan Blair MS, PT , Simona Bianconi MD , Natacha Akshoomoff PhD , Irina Anselm MD , Bruce A. Barshop MD, PhD , Lindsey Becker BS , Amanda E. Bennett MD, MPH , Leandra N. Berry PhD , Elizabeth M. Berry-Kravis MD, PhD , Aleksandra Bruchey PhD , Anna W. Byars PhD , Tricia Cimms MPH , Kim M. Cecil PhD , Maxine Covello BS , Laura S. Cubit PhD , Tanvi Das PhD , Robert J. Davis PharmD , Madison Drye BS , Audrey Thurm PhD","doi":"10.1016/j.pediatrneurol.2025.10.023","DOIUrl":"10.1016/j.pediatrneurol.2025.10.023","url":null,"abstract":"<div><h3>Background</h3><div>The purpose of the Vigilan observational study (ClinicalTrials.gov, NCT02931682) was to prospectively assess the natural history and developmental course of creatine transporter deficiency (CTD).</div></div><div><h3>Methods</h3><div>Males with CTD aged 6 months to 65 years were evaluated at 6-month intervals for up to 4 years. Evaluations included neurodevelopmental assessments of intellectual functioning, adaptive functioning, and challenging behaviors and the onset and progression of medical comorbidities.</div></div><div><h3>Results</h3><div>Fifty participants (median age, 7.6 years) were enrolled. The predominant CTD phenotype consisted of significant intellectual disabilities and limited skill development over time. Most participants had a history of febrile or nonfebrile seizures, gastrointestinal symptoms, and growth failure. All participants learned how to walk, 78% developed at least some verbal speech, and 34% communicated using phrases or sentences. Norm-referenced neurodevelopment assessments indicated declining standardized scores over time; however, absolute scores (i.e., age equivalent person ability scores) indicated that developmental gains were slower than average, particularly among older participants. Between-person differences in neurodevelopmental skills as a function of age did not match within-person change, suggesting a cohort effect.</div></div><div><h3>Conclusions</h3><div>In this cohort, CTD was associated with significant and persistent intellectual disability. The use of absolute metrics from neurodevelopmental tests (e.g., person ability scores) allowed for the quantification of slow, but present, skill development.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 8-18"},"PeriodicalIF":2.1,"publicationDate":"2025-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145537057","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

Pediatric neurology

Pub 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 , Han Jun Kim MD , Janice Lester MLS , Robin T. Varughese MD , 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":"2025-10-30","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