Pediatric neurology最新文献_第2页

Clinical Manifestations and Genetic Insights Into Congenital Myasthenic Syndrome-22 in Pediatric Patients 小儿先天性肌无力综合征-22的临床表现和遗传学见解

IF 2.1 3区医学

Pediatric neurology Pub Date : 2026-03-01 Epub Date: 2026-01-02 DOI: 10.1016/j.pediatrneurol.2025.12.027

Tianshuang Wang PhD, Shuizhen Zhou MD, Wenhui Li MD

{"title":"Clinical Manifestations and Genetic Insights Into Congenital Myasthenic Syndrome-22 in Pediatric Patients","authors":"Tianshuang Wang PhD, Shuizhen Zhou MD, Wenhui Li MD","doi":"10.1016/j.pediatrneurol.2025.12.027","DOIUrl":"10.1016/j.pediatrneurol.2025.12.027","url":null,"abstract":"<div><h3>Background</h3><div>The study aimed to identify the manifestation of isolated Prolyl endopeptidase-like (PREPL) deficiency in children to aid in diagnosis and early intervention.</div></div><div><h3>Methods</h3><div>We performed a retrospective cohort study, including five children genetically confirmed with PREPL gene mutations. Clinical features, genotypes, and treatment responses were analyzed.</div></div><div><h3>Results</h3><div>The study involved four girls and one boy. The major neuromuscular features were hypotonia and feeding difficulties in the neonatal period. They all had global muscle weakness. Different from typical symptoms of CMS, only one patient had transitorily unilateral mild ptosis with no obvious fluctuating nature. Minor facial dysmorphism, growth retardation (especially underweight), and significantly delayed motor development were frequently observed. One patient also showed language and cognitive development delay. In addition, two cases had a predominant decrease in insulin-like growth factor 1 at 2.3 and 1.6 years, respectively. The median age at diagnosis was 5 (1-12) months. Eight previously nondescribed mutations were detected among the five patients, in four children with compound heterozygous mutations and one child with homozygous mutations (maternal uniparental disomy). The frameshift mutation site (p. F428fs∗18) was found in two unrelated patients. All patients have received pyridostigmine treatment at median age of 6 (3-14) months. Four cases exhibited significant improvements in motor development.</div></div><div><h3>Conclusions</h3><div>Isolated PREPL deficiency is a multisystem disease more than just myasthenia. Early referral to diagnosis is crucial to enable timely initiation of treatment. Pyridostigmine is an effective treatment to improve motor development in most children. Monitoring hormone levels, including insulin-like growth factor 1, can assist in early intervention.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 68-76"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145979140","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

Natural History and Prognostic Factors in Pediatric Alexander Disease: A Cohort Study 儿童亚历山大病的自然史和预后因素：一项队列研究

IF 2.1 3区医学

Pediatric neurology Pub Date : 2026-03-01 Epub Date: 2026-01-09 DOI: 10.1016/j.pediatrneurol.2025.12.017

Jie Zhang MD , Huan Yi MD , Wei Yan MD, Xuting Chang MD, Xiaoqin Ruan MD, Jiong Deng MD, Xianyu Liu MD, Pengxia Wu MD, Jiayi Ma MD, Shangru Li MD, Jingmin Wang MD, Yuwu Jiang MD, Ye Wu MD

{"title":"Natural History and Prognostic Factors in Pediatric Alexander Disease: A Cohort Study","authors":"Jie Zhang MD , Huan Yi MD , Wei Yan MD, Xuting Chang MD, Xiaoqin Ruan MD, Jiong Deng MD, Xianyu Liu MD, Pengxia Wu MD, Jiayi Ma MD, Shangru Li MD, Jingmin Wang MD, Yuwu Jiang MD, Ye Wu MD","doi":"10.1016/j.pediatrneurol.2025.12.017","DOIUrl":"10.1016/j.pediatrneurol.2025.12.017","url":null,"abstract":"<div><h3>Background</h3><div>This study aims to clarify the natural course of Alexander disease and explore genotype‒phenotype correlations and prognostic factors.</div></div><div><h3>Methods</h3><div>This single-center, bidirectional cohort study included patients genetically confirmed with Alexander disease, aged between 0 and 18 years. Survival curve analysis was conducted to evaluate the acquisition and loss of motor/cognitive skills to clarify the natural course of the disease. Statistical methods such as survival curve analysis and Cox regression analysis were used to analyze genotype‒phenotype correlations and prognostic factors.</div></div><div><h3>Results</h3><div>A total of 81 patients were included. A total of 27 types of gene variants were found among all the children, with 40.7% (11/27) in the 1A domain. At the last follow-up, 12.3% (10/81) of the patients had died. Survival curve analysis for the ability of “walking without support,\" “sitting down without support,\" “holding head upright,\" “understanding and following simple instructions,\" and “saying simple words” were lost at an average age of 15.2 ± 1.2 years, 17.3 ± 1.4 years, 17.2 ± 1.3 years, 18.8 ± 14.6 years, and 18.2 ± 1.3 years, respectively. Prognostic factor analysis via Cox single-factor and multifactor regression analysis found that patients with variants of R239 had a greater incidence of poor outcome than other variants did (hazard ratio: 2.597 [95% confidence interval: 1.052, 6.409], <em>P</em> = 0.038).</div></div><div><h3>Conclusions</h3><div>The overall prognosis of Alexander disease is poor, with an average age at death of 18.6 ± 1.4 years and a high incidence of epilepsy (81.5%). Variants of R239 are potential prognostic factors for poor outcome.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 126-133"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146023388","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

Critique of Gammenthaler-Zaugg et al.'s Study on Point-of-Care Electroencephalography for Seizure Detection 对Gammenthaler-Zaugg等人关于即时脑电图检测癫痫发作的研究的批判

IF 2.1 3区医学

Pediatric neurology Pub Date : 2026-03-01 Epub Date: 2026-01-12 DOI: 10.1016/j.pediatrneurol.2026.01.005

Parth Aphale PhD, Shashank Dokania BHMS, Himanshu Shekhar BHMS

引用次数: 0

Recurrent Encephalopathy as a Form of Presentation of Transport Protein Particle Complex 11–Related Disease: A Family Matter 复发性脑病是转运蛋白颗粒复合物11相关疾病的一种表现形式：一个家族问题。

IF 2.1 3区医学

Pediatric neurology Pub Date : 2026-03-01 Epub Date: 2025-12-31 DOI: 10.1016/j.pediatrneurol.2025.12.021

Inês Noites MD , Catarina Borges MD , Sandra Catarina Ferraz MD , Cláudia Falcão-Reis MD , Cristina Garrido MD , Inês Carrilho MD

{"title":"Recurrent Encephalopathy as a Form of Presentation of Transport Protein Particle Complex 11–Related Disease: A Family Matter","authors":"Inês Noites MD , Catarina Borges MD , Sandra Catarina Ferraz MD , Cláudia Falcão-Reis MD , Cristina Garrido MD , Inês Carrilho MD","doi":"10.1016/j.pediatrneurol.2025.12.021","DOIUrl":"10.1016/j.pediatrneurol.2025.12.021","url":null,"abstract":"<div><h3>Background</h3><div>Transport protein particle complex 11 (TRAPPC11)-related disease, with autosomal recessive inheritance, exhibits a multisystemic involvement that goes widely beyond muscle weakness. Poor growth, psychomotor development delay, intellectual disability, microcephaly, ophthalmic involvement, and movement disorders are some of the typical features. Elevated serum creatine kinase levels are present in all previously reported <em>TRAPPC11</em> c.1278+5G > A variant cases.</div></div><div><h3>Methods</h3><div>Clinical characterization of three siblings from a Roma family with TRAPPC11-related disease, all harboring a homozygous c.1287+5G > A variant.</div></div><div><h3>Results</h3><div>The older siblings presented typical features of the disease, including significant microcephaly, intellectual delay, and psychomotor regression precipitated by infections. Ataxia was consistently observed across all cases, albeit with varying severity. None of the cases had clinical signs compatible with muscular dystrophy. Notably, despite sharing the same mutation, the siblings exhibited remarkable phenotypic variability, with the youngest sibling displaying a milder phenotype.</div></div><div><h3>Conclusions</h3><div>This case series elucidates the intricate presentation of TRAPPopathies and underscores its phenotypic diversity, emphasizing the influence of the implicated deleterious variant. This study contributes to our understanding of TRAPPC11-related disease and highlights the importance of recognizing and characterizing phenotypic variability in this genetic disorder.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 86-88"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146011617","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

The Relationship of Serum Uric Acid With Neurocognitive Functions in Children and Adolescents With Mild to Moderate Chronic Kidney Disease 儿童及青少年轻中度慢性肾病患者血清尿酸与神经认知功能的关系

IF 2.1 3区医学

Pediatric neurology Pub Date : 2026-03-01 Epub Date: 2026-01-07 DOI: 10.1016/j.pediatrneurol.2025.12.024

Stephen R. Hooper PhD , Jennifer Roem MS , Michael F. Schneider MS , Rebecca J. Johnson PhD , Bradley A. Warady MD , Susan L. Furth MD , George J. Schwartz MD

{"title":"The Relationship of Serum Uric Acid With Neurocognitive Functions in Children and Adolescents With Mild to Moderate Chronic Kidney Disease","authors":"Stephen R. Hooper PhD , Jennifer Roem MS , Michael F. Schneider MS , Rebecca J. Johnson PhD , Bradley A. Warady MD , Susan L. Furth MD , George J. Schwartz MD","doi":"10.1016/j.pediatrneurol.2025.12.024","DOIUrl":"10.1016/j.pediatrneurol.2025.12.024","url":null,"abstract":"<div><h3>Background</h3><div>Pediatric chronic kidney disease (CKD) is known to affect the neurocognitive functioning in children with CKD, even in those with mild to moderate CKD. What is not well understood is the underlying mechanisms involved in this disruption of neurocognitive abilities. While serum uric acid (SUA) is a known factor in the disruption of neurocognition in adults with CKD, it has not been well studied in children. The primary purpose of this study was to address this gap in the literature by examining the association between both serum SUA level and change in SUA level with selected neurocognitive functions in children and adolescents with mild to moderate CKD.</div></div><div><h3>Methods</h3><div>The sample included 593 participants with mild to moderate CKD for the North American Chronic Kidney Disease in Children study. Assessment of neurocognition included measures of IQ, problem solving, selective attention, working memory, and parent ratings of executive functions.</div></div><div><h3>Results</h3><div>After statistical adjustment, findings did not reveal any clear patterns of association between SUA (cross-sectionally or annualized change) and any of the neurocognitive outcomes. The significant findings that were present for both verbal and visual working memory functions suggested that medium to high levels of SUA may be exerting some neuroprotective function on lessening risk for cognitive dysfunction (i.e., attention regulation).</div></div><div><h3>Conclusions</h3><div>In one of the first studies to examine SUA and neurocognition in children with mild to moderate CKD, no clear associations were uncovered.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 112-116"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146023385","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

Cerebral Cavernous Malformations Presenting With Epileptic Spasms in Children 以癫痫痉挛为表现的儿童脑海绵状血管瘤

IF 2.1 3区医学

Pediatric neurology Pub Date : 2026-03-01 Epub Date: 2025-12-17 DOI: 10.1016/j.pediatrneurol.2025.12.005

Jia Yi Tonkin MBChB , Lauren Taylor MBBS , Emma Macdonald-Laurs MBChB, PhD

{"title":"Cerebral Cavernous Malformations Presenting With Epileptic Spasms in Children","authors":"Jia Yi Tonkin MBChB , Lauren Taylor MBBS , Emma Macdonald-Laurs MBChB, PhD","doi":"10.1016/j.pediatrneurol.2025.12.005","DOIUrl":"10.1016/j.pediatrneurol.2025.12.005","url":null,"abstract":"<div><h3>Background</h3><div>Cerebral cavernous malformations (CCMs) are vascular malformations occurring sporadically, or secondary to a familial cavernoma syndrome. While focal seizures are commonly associated with CCMs, epileptic spasms are rare.</div></div><div><h3>Methods</h3><div>We report four patients with epileptic spasms associated with CCM. All four patients were female and developed epileptic spasms aged 5 months, 17 months, 9 years, and 10 years.</div></div><div><h3>Results</h3><div>The 17-month-old presented with raised intracranial pressure aged 4 months, with a magnetic resonance imaging demonstrating a giant left hemisphere CCM in the context of a familial cavernoma syndrome. She developed epileptic spasms aged 17 months with developmental regression and hypsarrhythmia on electroencephalogram. The 10-year-old presented with epileptic spasms following several years of focal seizures associated with a solitary CCM in the left precuneus. The five-month-old presented with infantile epileptic spasms syndrome with a modified hypsarrhythmia and a CCM in the left temporal lobe in the context of a familial cavernoma syndrome. The nine-year-old presented with focal seizures followed by a period of altered awareness associated with periodic complexes on electroencephalogram associated with a CCM in the right precuneus. All patients underwent epilepsy surgery to remove their CCM and surrounding hemosiderin-stained cortex. Epileptic spasms resolved following resective surgery in all, although one child continued to have focal seizures.</div></div><div><h3>Conclusion</h3><div>These cases demonstrate that CCM may rarely present with epileptic spasms. Factors potentially predisposing to the development of epileptic spasms, rather than focal epilepsies include large lesion volume, lesion location within the precuneus, and the presence of a familial cavernoma syndrome.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 8-12"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145886371","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

Environmental Determinants of Participation in Children With Duchenne Muscular Dystrophy 杜氏肌萎缩症儿童参与的环境决定因素。

IF 2.1 3区医学

Pediatric neurology Pub Date : 2026-03-01 Epub Date: 2025-12-29 DOI: 10.1016/j.pediatrneurol.2025.12.013

Duygu Mine Alataş OT, MSc , Mustafa Cemali PT, PhD (Asst. Prof.) , Çiğdem Öksüz PT, PhD (Prof.) , Aynur Ayşe Karaduman PT, PhD (Prof.)

{"title":"Environmental Determinants of Participation in Children With Duchenne Muscular Dystrophy","authors":"Duygu Mine Alataş OT, MSc , Mustafa Cemali PT, PhD (Asst. Prof.) , Çiğdem Öksüz PT, PhD (Prof.) , Aynur Ayşe Karaduman PT, PhD (Prof.)","doi":"10.1016/j.pediatrneurol.2025.12.013","DOIUrl":"10.1016/j.pediatrneurol.2025.12.013","url":null,"abstract":"<div><h3>Background</h3><div>Few studies have examined the participation of children with Duchenne muscular dystrophy (DMD), and further investigation is needed to understand the factors influencing it. This study aimed to compare the participation of children with DMD to typically developing (TD) male peers, explore the relationship between participation and environmental factors, and assess the role of the environment in participation levels.</div></div><div><h3>Methods</h3><div>In this cross-sectional study, 30 children with DMD and 30 TD male children aged 5–13 years were included. Participation levels were measured using the Assessment of Life Habits, and environmental conditions were assessed with the European Child Environment Questionnaire.</div></div><div><h3>Results</h3><div>Children with DMD exhibited significantly lower total participation scores compared to TD children (6.45 ± 1.88 vs. 8.67 ± 1.22; <em>P</em> < 0.001). Significant correlations were found between the total participation level and environmental factors (r = -0.526, <em>P</em> = 0.003). Regression analysis showed that environmental factors explained 34.1% of the variance in participation, with the physical environment identified as the sole significant predictor (beta = -0.517, <em>P</em> = 0.041).</div></div><div><h3>Conclusions</h3><div>These findings highlight the need for occupational therapists to systematically evaluate participation and environmental factors to plan effective interventions.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 48-53"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145952942","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

Disability and Climate Crises: Opportunities to Move Beyond Recognizing Ethical Responsibility and to Take Action 残疾和气候危机：超越道德责任并采取行动的机会

IF 2.1 3区医学

Pediatric neurology Pub Date : 2026-03-01 Epub Date: 2025-12-17 DOI: 10.1016/j.pediatrneurol.2025.12.003

Gabriel M. Ronen MD, MSc

{"title":"Disability and Climate Crises: Opportunities to Move Beyond Recognizing Ethical Responsibility and to Take Action","authors":"Gabriel M. Ronen MD, MSc","doi":"10.1016/j.pediatrneurol.2025.12.003","DOIUrl":"10.1016/j.pediatrneurol.2025.12.003","url":null,"abstract":"<div><div>The world is facing an unprecedented crisis due to the harms associated with climate change. The universal impacts of these changes are creating as yet poorly acknowledged health crises, disproportionately affecting people with neurodisabilities. These disruptions are experienced differentially, related to sociodemographic and political factors that offer relative protection for some and ever-increasing vulnerability for others. This essay offers an overview of key contributing factors that are likely to exacerbate this climate crisis for individuals with neurodisabilities and provides recommendations regarding how to recognize and seize opportunities to confront the ever-growing threats of climate change for these people, their families, and communities. These perspectives are grounded in broader critical disability studies, strategies addressing social vulnerability, and environmental justice. Climate adaptation is extremely complex and far broader than disaster risk readiness and response. It would therefore be understandable to feel powerless in the face of human-created climate events that impel the world toward the brink. There are, however, many reasons for hope. This essay argues in favor of working to capture people's lived experiences and resourcefulness. We must recognize the creative and improvised strategies they are able to devise, and describe and promote the ensuing actions that we can take for the wellbeing of the people we service. In our professional roles in research and in direct health, social and educational services, and working in collaboration with families of individuals with neurodisabilities, we have the power to act and advocate. This is a time, as never before, for thoughtful and concerted action.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 13-19"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145886372","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

Comment on ‘Yield of Whole Exome Sequencing in Children With Cryptogenic Cerebral Palsy’ 对“隐源性脑瘫患儿全外显子组测序结果”的评论。

IF 2.1 3区医学

Pediatric neurology Pub Date : 2026-03-01 Epub Date: 2025-12-09 DOI: 10.1016/j.pediatrneurol.2025.12.002

Lingling Chen MD , Lianyi Bao MD

引用次数: 0

Rare Occurrence of Congenital Neuroblastoma and Tuberous Sclerosis 罕见的先天性神经母细胞瘤和结节性硬化症

IF 2.1 3区医学

Pediatric neurology Pub Date : 2026-03-01 Epub Date: 2025-12-31 DOI: 10.1016/j.pediatrneurol.2025.12.018

Madeline Gardner BSc, MD , Snehal Shah MD, MBBS, DNB , Neha Jain MBBS, DCH, MPH , Michael Bynevelt BHB, MBChB

引用次数: 0