Pediatric neurology最新文献

筛选
英文 中文
A Proof-of-Concept Study on Effectiveness of Nitrazepam in Resistant Infantile Epileptic Spasms Syndrome (NitRIS Trial) 尼拉西泮治疗顽固性婴儿癫痫痉挛综合征的概念验证研究(NitRIS试验)
IF 2.1 3区 医学
Pediatric neurology Pub Date : 2025-09-08 DOI: 10.1016/j.pediatrneurol.2025.09.001
Parth Lal MBBS , Sandeep Negi PhD , Kiran Prakash MD , Dipika Bansal DM , Naveen Sankhyan DM , Jitendra Kumar Sahu DM
{"title":"A Proof-of-Concept Study on Effectiveness of Nitrazepam in Resistant Infantile Epileptic Spasms Syndrome (NitRIS Trial)","authors":"Parth Lal MBBS ,&nbsp;Sandeep Negi PhD ,&nbsp;Kiran Prakash MD ,&nbsp;Dipika Bansal DM ,&nbsp;Naveen Sankhyan DM ,&nbsp;Jitendra Kumar Sahu DM","doi":"10.1016/j.pediatrneurol.2025.09.001","DOIUrl":"10.1016/j.pediatrneurol.2025.09.001","url":null,"abstract":"<div><h3>Background</h3><div>Globally, pediatric neurologists vary in their choice of antiseizure medications for children with infantile epileptic spasms syndrome (IESS) who are resistant to hormonal and vigabatrin therapy. This trial aimed to determine whether oral nitrazepam is more effective than oral topiramate in achieving complete cessation of epileptic spasms (ES) in such cases.</div></div><div><h3>Methods</h3><div>We conducted an open-label, randomized controlled trial with a superiority hypothesis and masked end point assessments. The primary effectiveness end point was complete and sustained cessation of ES for 4 weeks, assessed at 10 weeks post-randomization. Secondary end points included electroclinical remission, time to remission, quality of life (assessed using the Hindi version of the Quality of Life of the Infant scale), autonomic tone (measured via heart rate variability), and adverse events.</div></div><div><h3>Results</h3><div>Between June 2023 and December 2024, 80 children with resistant IESS were screened and 40 (29 boys, 11 girls) were randomized to receive oral nitrazepam (0.5-3 mg/kg/day; n = 20) or topiramate (2-12 mg/kg/day; n = 20). Complete cessation of ES was achieved in 55% with nitrazepam vs 15% with topiramate (<em>P</em> = 0.019) and electroclinical remission in 45% vs 10% (<em>P</em> = 0.031). Quality of life scores favored nitrazepam (<em>P</em> = 0.023). Parasympathetic heart rate variability was significantly higher in nitrazepam responders. Sedation was more common with nitrazepam and irritability with topiramate.</div></div><div><h3>Conclusions</h3><div>Nitrazepam showed superior short-term effectiveness over topiramate in resistant IESS, with better quality of life and autonomic stability. Further research is needed to assess long-term outcomes.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"173 ","pages":"Pages 66-73"},"PeriodicalIF":2.1,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145222281","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
Genetic Landscape of Opsoclonus-Myoclonus-Ataxia Syndrome in Children 儿童眼阵挛-肌阵挛-共济失调综合征的遗传图谱
IF 2.1 3区 医学
Pediatric neurology Pub Date : 2025-09-04 DOI: 10.1016/j.pediatrneurol.2025.08.019
Mark P. Gorman MD , In-Hee Lee PhD , Lauren M. Kerr BA , Kenneth D. Mandl MD, MPH , Sek Won Kong MD
{"title":"Genetic Landscape of Opsoclonus-Myoclonus-Ataxia Syndrome in Children","authors":"Mark P. Gorman MD ,&nbsp;In-Hee Lee PhD ,&nbsp;Lauren M. Kerr BA ,&nbsp;Kenneth D. Mandl MD, MPH ,&nbsp;Sek Won Kong MD","doi":"10.1016/j.pediatrneurol.2025.08.019","DOIUrl":"10.1016/j.pediatrneurol.2025.08.019","url":null,"abstract":"<div><h3>Background</h3><div>Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare neurological disorder, with involuntary rapid saccadic conjugate eye movements as one of characteristics, primarily affecting the cerebellum. While the exact pathogenesis remains unclear, genetic and autoimmune factors have been suggested to contribute to its development.</div></div><div><h3>Methods</h3><div>We enrolled patients diagnosed with OMAS before the age of 18 years at a pediatric neuroimmunology clinic in Boston, United States, using the 2004 Genoa Criteria. Whole genome sequencing was conducted for the patients and their biological parents in all cases, with one case including an unaffected twin sibling.</div></div><div><h3>Results</h3><div><em>De novo</em> germline variants (DNVs) in probands were identified and validated and analyses of structural variants, recessive variants in neuroimmune-associated genes, and high-resolution human leukocyte antigen (HLA) typing were performed. Our study included 42 patients, 23 of whom had neuroblastoma. We found 12 confirmed DNVs in protein-coding regions in nine patients (29.0% of 31 from 30 trios and 1 quartet). Ten patients (23.8% of 42) had rare homozygous or compound heterozygous variants known to alter protein function, affecting 11 genes. Notably, the major histocompatibility complex, class II, DR beta 1 (<em>HLA-DRB1</em>) <em>∗01</em> allele was observed in 27 out of 84 (32.1%) alleles in the patients, significantly higher than that in the general population (chi-square test, <em>P</em> &lt; 0.0001). In one case, a potential genetic modifier of OMAS with severe cerebellar atrophy was identified, associated with a protein-truncating DNV in the <em>CACNA2D2</em> gene.</div></div><div><h3>Conclusions</h3><div>This first genome sequencing study reveals potential genetic contributors to OMAS, implicating polygenic predisposition—with <em>HLA-DRB1∗01</em> as a possible factor—combined with nongenetic risk factors like neuroblastoma.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"173 ","pages":"Pages 33-40"},"PeriodicalIF":2.1,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145159601","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
Biological Sex and Body Mass Index Influence the Longitudinal Evolution of Adolescent and Young Adult Magnetic Resonance Imaging-Visible Perivascular Spaces 生理性别和体重指数影响青少年和青年磁共振成像-可见血管周围空间的纵向演变。
IF 2.1 3区 医学
Pediatric neurology Pub Date : 2025-09-01 DOI: 10.1016/j.pediatrneurol.2025.08.021
Erin A. Yamamoto MD , Seiji Koike MAS , Caitlyn Wong BS , Laura E. Dennis BS , Madison N. Luther BS , Avery Scatena BA , Seva Khambadkone MD, PhD , Jeffrey J. Iliff PhD , Miranda M. Lim MD, PhD , Swati R. Levendovszky PhD , Jonathan E. Elliott PhD , Giuseppe Barisano MD, PhD , Eva M. Müller-Oehring PhD , Angelica M. Morales PhD , Fiona C. Baker PhD , Bonnie J. Nagel PhD , Juan Piantino MD, MCR
{"title":"Biological Sex and Body Mass Index Influence the Longitudinal Evolution of Adolescent and Young Adult Magnetic Resonance Imaging-Visible Perivascular Spaces","authors":"Erin A. Yamamoto MD ,&nbsp;Seiji Koike MAS ,&nbsp;Caitlyn Wong BS ,&nbsp;Laura E. Dennis BS ,&nbsp;Madison N. Luther BS ,&nbsp;Avery Scatena BA ,&nbsp;Seva Khambadkone MD, PhD ,&nbsp;Jeffrey J. Iliff PhD ,&nbsp;Miranda M. Lim MD, PhD ,&nbsp;Swati R. Levendovszky PhD ,&nbsp;Jonathan E. Elliott PhD ,&nbsp;Giuseppe Barisano MD, PhD ,&nbsp;Eva M. Müller-Oehring PhD ,&nbsp;Angelica M. Morales PhD ,&nbsp;Fiona C. Baker PhD ,&nbsp;Bonnie J. Nagel PhD ,&nbsp;Juan Piantino MD, MCR","doi":"10.1016/j.pediatrneurol.2025.08.021","DOIUrl":"10.1016/j.pediatrneurol.2025.08.021","url":null,"abstract":"<div><h3>Background</h3><div>An association recently emerged between magnetic resonance imaging (MRI)-visible perivascular spaces (MV-PVS) with intracerebral solute clearance and neuroinflammation, in adults. However, it is unknown how MV-PVS change throughout adolescence and what factors influence MV-PVS volume and morphology. This study assesses the temporal evolution of MV-PVS volume in adolescents and young adults, and secondarily evaluates the relationship between MV-PVS, age, sex, and body mass index (BMI).</div></div><div><h3>Methods</h3><div>This analysis included a 783 participant cohort from the longitudinal multicenter National Consortium on Alcohol and Neurodevelopment in Adolescence study that involved up to 6 imaging visits spanning 5 years. Healthy adolescents aged 12-21 years at study entry with at least two MRI scans were included. The primary outcome was mean MV-PVS volume (mm<sup>3</sup>/white matter cm<sup>3</sup>).</div></div><div><h3>Results</h3><div>On average, males had greater MV-PVS volume at all ages compared to females. A linear mixed-effect model for MV-PVS volume was performed. Mean BMI and increases in a person's BMI were associated with increases in MV-PVS volume over time. In females only, changes in BMI correlated with MV-PVS volume. One unit increase in BMI above a person's average BMI was associated with a 0.021 mm<sup>3</sup>/cm<sup>3</sup> increase in MV-PVS volume (<em>P</em> &lt; 0.001).</div></div><div><h3>Conclusions</h3><div>This longitudinal study showed sex differences in MV-PVS features during adolescence and young adulthood. Importantly, we report that increases in BMI from a person's mean BMI are associated with increases in MV-PVS volume in females only. These findings suggest a potential link between MV-PVS, sex, and BMI that warrants future study.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"173 ","pages":"Pages 58-65"},"PeriodicalIF":2.1,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145207140","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
Patient and Caregiver Perspectives on the Transition From Pediatric to Adult Neurology Care: A Single-Site Qualitative Study 从儿童到成人神经病学护理过渡的患者和护理者观点:一项单点定性研究。
IF 2.1 3区 医学
Pediatric neurology Pub Date : 2025-09-01 DOI: 10.1016/j.pediatrneurol.2025.08.020
Laura D. Fonseca MS , Meha Joshi MD, MPH , Brooklynne Dilley MD , Gogi Kumar MD
{"title":"Patient and Caregiver Perspectives on the Transition From Pediatric to Adult Neurology Care: A Single-Site Qualitative Study","authors":"Laura D. Fonseca MS ,&nbsp;Meha Joshi MD, MPH ,&nbsp;Brooklynne Dilley MD ,&nbsp;Gogi Kumar MD","doi":"10.1016/j.pediatrneurol.2025.08.020","DOIUrl":"10.1016/j.pediatrneurol.2025.08.020","url":null,"abstract":"<div><h3>Background</h3><div>Transition from pediatric to adult health care setting is a complex process with patients, caregivers and physicians playing a vital role in its success. Our aim was to understand the social needs of young persons with epilepsy and their perspectives on transitioning to adult neurology care.</div></div><div><h3>Methods</h3><div>We conducted a qualitative survey study of young persons with epilepsy ≥18 years of age. Data were collected from September 21, 2022, to November 15, 2023, at a tertiary pediatric hospital in Ohio. The Health-Related Social Needs Screening Tool and a self-created Barriers to Transition survey, were distributed to patients or their primary caregiver to complete on behalf of the patient.</div></div><div><h3>Results</h3><div>Thirty-one surveys were completed. The majority of the patients were male (51.6%), with a mean age of 22.1 years, White/Caucasian (74.2%) and not Hispanic/Latino (90.3%). The majority reported having 3 or more social needs (48.4%); the most common being lack of physical activity (83.9%), presence of disabilities (51.6%), and mental health diagnoses (45.2%). The Barriers to Transition survey revealed 35.5% of respondents did not have a transition of care discussion with the clinical team. Only 5 (16.1%) patients attempted to transition to adult care with 3 being successful. A thematic analysis revealed five themes related to barriers in transitioning to adult health care setting: lack of a formal transition process, consistency of specialized pediatric care, insurance, fear/worry, and perspectives of adult care. One facilitator to transitioning theme emerged: treatment plan approach.</div></div><div><h3>Conclusions</h3><div>Current findings can help with designing neurology transition programs to meet the needs of this complex population.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"172 ","pages":"Pages 146-152"},"PeriodicalIF":2.1,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145092123","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
Editorial Board and Masthead 编委会和报头
IF 2.1 3区 医学
Pediatric neurology Pub Date : 2025-08-30 DOI: 10.1016/S0887-8994(25)00246-2
{"title":"Editorial Board and Masthead","authors":"","doi":"10.1016/S0887-8994(25)00246-2","DOIUrl":"10.1016/S0887-8994(25)00246-2","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"171 ","pages":"Pages A1-A2"},"PeriodicalIF":2.1,"publicationDate":"2025-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144916544","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
Long-Term Influence of Pediatric Long COVID Syndrome on Visual Perception and Neuropsychiatric Symptoms 小儿长冠综合征对视知觉和神经精神症状的长期影响
IF 2.1 3区 医学
Pediatric neurology Pub Date : 2025-08-28 DOI: 10.1016/j.pediatrneurol.2025.08.018
Tzu-Yu Chen MS , Yen-Ju Chu MD , Chia-Jui Hsu MD , Hsin-Pei Wang MD , Lee-Chin Wong MD, PhD , Wang-Tso Lee MD, PhD
{"title":"Long-Term Influence of Pediatric Long COVID Syndrome on Visual Perception and Neuropsychiatric Symptoms","authors":"Tzu-Yu Chen MS ,&nbsp;Yen-Ju Chu MD ,&nbsp;Chia-Jui Hsu MD ,&nbsp;Hsin-Pei Wang MD ,&nbsp;Lee-Chin Wong MD, PhD ,&nbsp;Wang-Tso Lee MD, PhD","doi":"10.1016/j.pediatrneurol.2025.08.018","DOIUrl":"10.1016/j.pediatrneurol.2025.08.018","url":null,"abstract":"<div><h3>Background</h3><div>Long COVID presents with a wide range of persistent symptoms and durations following coronavirus disease 2019 (COVID-19) infection. However, data on children and adolescents remain limited. This study aims to explore visual perception and neuropsychiatric symptoms in pediatric patients and examine their associations with brain volume differences.</div></div><div><h3>Methods</h3><div>A total of 60 participants, aged six to 18 years and confirmed COVID-19 antibody positive, were recruited five to eight months after infection. Owing to the diversity of symptoms, each symptom was assigned a weighted score from 0 to 3 based on its severity and relevance to brain function. Participants were then divided into two groups according to symptom severity. All participants underwent magnetic resonance imaging, and the Test of Visual Perceptual Skills-Fourth Edition (TVPS-4) was administered.</div></div><div><h3>Results</h3><div>The most common neuropsychiatric symptoms were headache or dizziness, along with attention and memory deficits, which persisted for up to six months. Gray matter volumes were significantly increased in the group with severe symptoms, particularly in subcortical and temporal regions. These brain volume differences showed significant correlations with both acute and chronic symptoms. In the TVPS-4 assessment, significant differences were observed in overall standard scores and in the Sequential Memory subtest between participants with visual-related symptoms and healthy control subjects.</div></div><div><h3>Conclusions</h3><div>Neuropsychiatric symptoms, impaired visual perception, and gray matter volume differences are evident in pediatric long COVID cases. The severity of neuropsychiatric symptoms during the acute phase may predict the degree of chronic-phase brain volume alterations. Longitudinal follow-up studies are essential to validate and expand upon these findings.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"173 ","pages":"Pages 22-29"},"PeriodicalIF":2.1,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145159599","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
Evaluation of Bisphenol A Levels in Children With Unprovoked Seizures 非诱发性癫痫患儿双酚A水平的评价
IF 2.1 3区 医学
Pediatric neurology Pub Date : 2025-08-27 DOI: 10.1016/j.pediatrneurol.2025.08.014
Elif Perihan Oncel MD , Nihal Olgaç Dundar MD , Pınar Gençpınar MD , Pınar Arıcan MD , Seher Jabbari Behrouz MD , Fatma Demet Arslan MD , Bumin Nuri Dundar MD
{"title":"Evaluation of Bisphenol A Levels in Children With Unprovoked Seizures","authors":"Elif Perihan Oncel MD ,&nbsp;Nihal Olgaç Dundar MD ,&nbsp;Pınar Gençpınar MD ,&nbsp;Pınar Arıcan MD ,&nbsp;Seher Jabbari Behrouz MD ,&nbsp;Fatma Demet Arslan MD ,&nbsp;Bumin Nuri Dundar MD","doi":"10.1016/j.pediatrneurol.2025.08.014","DOIUrl":"10.1016/j.pediatrneurol.2025.08.014","url":null,"abstract":"<div><h3>Background</h3><div>Bisphenol A (BPA) is a widely used chemical in plastics and epoxy resins, with potential neurotoxic effects. Limited evidence links BPA exposure to seizures, yet the mechanisms remain unclear.</div></div><div><h3>Objective</h3><div>This study aimed to investigate the relationship between urinary BPA levels and unprovoked seizures in children.</div></div><div><h3>Methods</h3><div>Urine samples from children presenting with seizures and age-matched healthy control subjects were analyzed for BPA levels. BPA/body surface area (BSA) ratios and creatinine-indexed BPA levels were calculated. Statistical comparisons were made to assess associations between BPA exposure and seizure incidence.</div></div><div><h3>Results</h3><div>The mean urinary BPA levels were significantly higher in the control group (0.067 ± 0.057 μg/mL) compared with the patient group (0.029 ± 0.322 μg/mL; <em>P</em> = 0.024). No significant differences were observed between the groups for BPA/BSA ratios (<em>P</em> = 0.463) or creatinine-indexed BPA levels (<em>P</em> = 0.452). Although higher BPA levels were noted in younger children, no significant association was found between BPA levels and seizure type or recurrence.</div></div><div><h3>Conclusions</h3><div>The study highlights discrepancies in BPA measurement methods and suggests age and body composition as critical factors influencing BPA levels. Although no direct link between BPA and seizures was established, the results underscore the importance of standardized methods for BPA assessment and the need for larger studies to explore potential neurotoxic effects.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"172 ","pages":"Pages 120-133"},"PeriodicalIF":2.1,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145045014","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
A Typical Neuroaxonal Dystrophy or an Atypical Form of Huntington Disease? 典型的神经轴突营养不良还是非典型的亨廷顿病?
IF 2.1 3区 医学
Pediatric neurology Pub Date : 2025-08-26 DOI: 10.1016/j.pediatrneurol.2025.08.015
Josiele Rodrigues Santos MD , Davi Muniz Dantas MD , Pedro Lucas Gomes Lima , Leonardo Aguiar Pires Gonçalves MD , Trajano Aguiar Pires Gonçalves MD
{"title":"A Typical Neuroaxonal Dystrophy or an Atypical Form of Huntington Disease?","authors":"Josiele Rodrigues Santos MD ,&nbsp;Davi Muniz Dantas MD ,&nbsp;Pedro Lucas Gomes Lima ,&nbsp;Leonardo Aguiar Pires Gonçalves MD ,&nbsp;Trajano Aguiar Pires Gonçalves MD","doi":"10.1016/j.pediatrneurol.2025.08.015","DOIUrl":"10.1016/j.pediatrneurol.2025.08.015","url":null,"abstract":"<div><h3>Background</h3><div>Infantile neuroaxonal dystrophy (INAD) is a rare degenerative disorder of the nervous system with autosomal recessive inheritance, classified within the group of neurodegeneration with brain iron accumulation. Symptoms typically begin between six months and three years of age, presenting with psychomotor regression, hypotonia, and progressive spastic tetraparesis.</div></div><div><h3>Methods</h3><div>We describe a case of INAD with an unusual clinical presentation. The patient carried a prior genetic diagnosis of Huntington disease, but the clinical features were inconsistent with Huntington disease.</div></div><div><h3>Results</h3><div>The discordance between genetic findings and clinical presentation prompted further investigation, leading to the diagnosis of INAD. This case illustrates the diagnostic challenge posed by overlapping clinical features in neurodegenerative diseases.</div></div><div><h3>Conclusions</h3><div>This case underscores the importance of considering alternative neurodegenerative disorders in the differential diagnosis of rare diseases. It highlights the critical role of correlating genotype and phenotype to ensure diagnostic accuracy and appropriate patient management.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"173 ","pages":"Pages 30-32"},"PeriodicalIF":2.1,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145159544","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
A Rare Case of Juvenile Myasthenia Gravis With Low-Density Lipoprotein Receptor-Related Protein 4 Antibodies in a Seven-Year-Old Boy 一例罕见的7岁男童伴低密度脂蛋白受体相关蛋白4抗体的青少年重症肌无力
IF 2.1 3区 医学
Pediatric neurology Pub Date : 2025-08-25 DOI: 10.1016/j.pediatrneurol.2025.08.016
Charalampos L. Kandilakis, Despoina Gkentzi MD, PhD, Polyxeni Pelekouda MD
{"title":"A Rare Case of Juvenile Myasthenia Gravis With Low-Density Lipoprotein Receptor-Related Protein 4 Antibodies in a Seven-Year-Old Boy","authors":"Charalampos L. Kandilakis,&nbsp;Despoina Gkentzi MD, PhD,&nbsp;Polyxeni Pelekouda MD","doi":"10.1016/j.pediatrneurol.2025.08.016","DOIUrl":"10.1016/j.pediatrneurol.2025.08.016","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"172 ","pages":"Pages 118-119"},"PeriodicalIF":2.1,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145045015","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
From Crisis to Continuum: Redefining Survivorship in Neurometabolic Care 从危机到连续:重新定义神经代谢护理的生存期。
IF 2.1 3区 医学
Pediatric neurology Pub Date : 2025-08-25 DOI: 10.1016/j.pediatrneurol.2025.08.017
Bharatendu Chandra MBBS , Madelyn Klemmensen BS , Brian J. Shayota MD, MPH , Andrea L. Gropman MD
{"title":"From Crisis to Continuum: Redefining Survivorship in Neurometabolic Care","authors":"Bharatendu Chandra MBBS ,&nbsp;Madelyn Klemmensen BS ,&nbsp;Brian J. Shayota MD, MPH ,&nbsp;Andrea L. Gropman MD","doi":"10.1016/j.pediatrneurol.2025.08.017","DOIUrl":"10.1016/j.pediatrneurol.2025.08.017","url":null,"abstract":"<div><div>Advances in newborn screening, molecular diagnostics, and targeted therapies have markedly improved survival for individuals with inborn errors of metabolism (IEM), allowing many to live well into adulthood. While some may remain asymptomatic, their underlying metabolic vulnerabilities persist and can be unmasked by illness, stress, or other triggers. As a result, a growing population of adults with IEM now faces unique and evolving challenges related to long-term disease management, continuity of care, and quality of life. Despite these shifting demographics, there remains limited literature directly comparing pediatric and adult treatment outcomes, and emerging data suggest that therapeutic effectiveness in childhood may not always extend into adulthood. Survivorship in IEM spans a wide range of medical, neurodevelopmental, and psychosocial domains. These include maintaining metabolic stability, managing complex dietary needs, monitoring for progressive organ dysfunction, addressing neurocognitive outcomes, and navigating socioeconomic and mental health challenges. Compounding these issues are barriers such as limited access to specialized adult care, inconsistent insurance coverage for medical foods and therapies, and a lack of established adult-specific treatment protocols. This review explores the critical components of survivorship in IEM, including emerging therapies and the increasing importance of multidisciplinary care models. It underscores the necessity of well-coordinated transition programs that support adolescents and young adults as they shift from pediatric to adult healthcare systems. In addition, it highlights the need for expanded education and research efforts aimed at understanding and addressing the distinct and evolving needs of adults with IEM. By highlighting the lived experience, gaps in education, and complex care requirements of this growing patient population, this invited manuscript aims to inform tailored, lifespan-focused management strategies that reflect the realities of aging with a rare metabolic disorder.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"173 ","pages":"Pages 5-21"},"PeriodicalIF":2.1,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145150235","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信