Pediatric neurology最新文献

{"title":"Rare Occurrence of Congenital Neuroblastoma and Tuberous Sclerosis","authors":"Madeline Gardner BSc, MD , Snehal Shah MD, MBBS, DNB , Neha Jain MBBS, DCH, MPH , Michael Bynevelt BHB, MBChB","doi":"10.1016/j.pediatrneurol.2025.12.018","DOIUrl":"10.1016/j.pediatrneurol.2025.12.018","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 62-63"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145979141","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}

{"title":"The Era of Gene Therapy, Newborn Screening, and Improved Management in the Leukodystrophies: A Shifting Framework With Altered Expectations","authors":"Amanda Nagy MD,&nbsp;Robert Thompson MD,&nbsp;Florian Eichler MD","doi":"10.1016/j.pediatrneurol.2025.12.006","DOIUrl":"10.1016/j.pediatrneurol.2025.12.006","url":null,"abstract":"<div><div>The field of leukodystrophies (LDs) has undergone a paradigm shift in recent decades. Several factors underlie this change: newborn screening, advanced genetic and metabolic testing, improved understanding and medical management of disease, and targeted therapies addressing underlying molecular etiologies. Recent trials as well as regulatory approvals are testimony to the transformative effects of gene therapy. However, the risks of these treatments remain incompletely understood and include malignancies/premalignancies, immune-mediated hepatic injury, and thrombotic microangiopathy, among others. The implementation of newborn screening for individual LDs allows for improved monitoring and earlier treatment but also extends the measured lifespan following diagnosis, skewing survival data compared to historical data based on symptomatic diagnosis. Lastly, population screening leads to identification of genetic variants with milder or uncertain pathogenicity. In this article, we review the shifting framework impacting life expectancy and decision-making in the LDs along with the risks and uncertainties that have arisen in the setting of recent advancements.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 3-7"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145878778","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}

{"title":"The Lack of Broad Multidisciplinary Assessments in Children and Adolescents With Newly Diagnosed Idiopathic Intracranial Hypertension","authors":"Christoffer Ehrstedt MD, PhD ,&nbsp;Gunnar Liminga MD, PhD ,&nbsp;Ylva Fredriksson Kaul PhD ,&nbsp;Olga Kochukhova PhD ,&nbsp;Eva Larsson MD, PhD ,&nbsp;Ingela Kristiansen MD, PhD","doi":"10.1016/j.pediatrneurol.2025.12.016","DOIUrl":"10.1016/j.pediatrneurol.2025.12.016","url":null,"abstract":"<div><h3>Background</h3><div>In pediatric idiopathic intracranial hypertension (IIH) patients, 27-62% have been reported to have difficulties in one or more neurocognitive domains. Also higher rates of mental health issues have been reported, further underscoring the importance of evaluating broader support needs. We aimed to investigate to what extent children and adolescents with newly diagnosed IIH received broad multidisciplinary assessments, as well as educational and weight-management support.</div></div><div><h3>Methods</h3><div>A population-based single center cohort study, included patients younger than 18 years of age when diagnosed with IIH according to the Friedman criteria, during 2000-2020. A cross-sectional interview survey and retrospective chart review were performed to investigate the frequency of broad multidisciplinary assessments at IIH diagnosis and need of educational support.</div></div><div><h3>Results</h3><div>Interviews were conducted with 61% (28 of 46) identified patients. According to medical records (N = 46), assessments were conducted by a psychologist in 7%, a physiotherapist in 4%, a social worker in 4%, and a special education teacher in 0%. Among patients with overweight or obesity, 67% were referred to a dietitian for weight management support. Dietitian involvement was more likely in obese than overweight patients, 86% versus 38% (<em>P</em> = 0.04). In addition, 64% of the interviewed patients reported a need for educational support, of whom half (32%) did not receive adequate support in school.</div></div><div><h3>Conclusions</h3><div>Broad multidisciplinary assessments were uncommon among pediatric patients diagnosed with IIH. There was a high unmet need for educational support. Routine monitoring for neurocognitive impairments and educational needs should be part of pediatric IIH management. A broad multidisciplinary approach would best meet this need.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 134-140"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146078517","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}

{"title":"A Decade of Changes: Investigating Etiologies in Epileptic Spasms","authors":"Lucia Fusco MD, PhD ,&nbsp;Nicola Specchio MD, PhD","doi":"10.1016/j.pediatrneurol.2025.12.028","DOIUrl":"10.1016/j.pediatrneurol.2025.12.028","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 89-91"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146023252","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}

{"title":"Educational and Social Outcomes in Optic Nerve Hypoplasia and Septo-Optic-Pituitary Dysplasia","authors":"Michael S. Salman MBBS, BSc, MSc, PhD ,&nbsp;Chelsea A. Ruth MD, MSc, FRCPC ,&nbsp;Randy Walld BSc, BComm (Hons) ,&nbsp;Marina S. Yogendran MSc ,&nbsp;Lisa M. Lix PhD","doi":"10.1016/j.pediatrneurol.2025.12.019","DOIUrl":"10.1016/j.pediatrneurol.2025.12.019","url":null,"abstract":"<div><h3>Background</h3><div>To describe educational and social outcomes in optic nerve hypoplasia/septo-optic-pituitary dysplasia (ONH/SOD) in Manitoba, Canada.</div></div><div><h3>Methods</h3><div>A population-based case-control study used administrative health, education, and social data from the Manitoba Population Research Data Repository. A total of 124 ONH/SOD patients diagnosed during 1990-2019 were matched to 620 unrelated population-based controls on area of residence, birth year, and sex. Multivariable logistic regression tested for differences between cases and controls on selected educational and social outcomes. Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated.</div></div><div><h3>Results</h3><div>Cases had higher odds than controls for requiring specialized educational funding (OR: 13.12, 95% CI: 7.06-24.40). Vulnerability in any five domains of Early Development Instrument, a measure of school readiness, showed higher odds in cases (OR: 2.58, 95% CI: 1.09-6.10). In addition, cases had higher odds of contact with Child and Family Services (OR: 1.81, 95% CI: 1.22-2.69), and being taken into care at any time after birth (OR: 2.10, 95% CI: 1.32-3.35).</div></div><div><h3>Conclusions</h3><div>Cases with ONH/SOD had a need for greater resources and more adverse educational and social outcomes. It is recommended for social and educational service providers to work together with health care providers to ensure appropriate supports are in place for cases with ONH/SOD.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 77-85"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145978544","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}

{"title":"Neurocognitive Outcome After Pediatric Traumatic Brain Injury: Patient Subgroups With Diverging Outcome","authors":"Cece C. Kooper ,&nbsp;Marsh Königs PhD ,&nbsp;Marjan E. Steenweg PhD ,&nbsp;Maayke Hunfeld MD, PhD ,&nbsp;Nienke C.D. Scheurer MD ,&nbsp;Herman M. Schippers MD ,&nbsp;Willy Peper MD ,&nbsp;Arne Popma MD, PhD ,&nbsp;Job B.M. van Woensel MD, PhD ,&nbsp;Dennis R. Buis MD, PhD ,&nbsp;Hilgo Bruining MD, PhD ,&nbsp;Marc Engelen MD, PhD ,&nbsp;Jaap Oosterlaan MD, PhD","doi":"10.1016/j.pediatrneurol.2025.12.020","DOIUrl":"10.1016/j.pediatrneurol.2025.12.020","url":null,"abstract":"<div><h3>Background</h3><div>To investigate whether the heterogeneity in neurocognitive outcome following pediatric traumatic brain injury (TBI) can be reduced by distinguishing subgroups of children with distinct profiles of neurocognitive functioning, and to investigate whether these subgroups differ in demographic, premorbid, and clinical characteristics.</div></div><div><h3>Methods</h3><div>In this multicenter study, 113 children with TBI (mild [82%], moderate [7%], severe [11%]) and 113 demographically matched neurologically healthy (NH) children were assessed using comprehensive computerized neurocognitive testing at 6 months post-TBI. The TBI and NH groups were compared on neurocognitive domains, and the TBI group was subjected to cluster analysis to identify neurocognitive subgroups. Resulting subgroups were compared on demographic, premorbid, and clinical characteristics.</div></div><div><h3>Results</h3><div>Children with TBI had lower performance than NH children in Speed, Stability, Attention &amp; Control, Verbal Working Memory, and Visual Working Memory (<em>P</em> &lt; 0.05, <em>d</em> ≤ −0.42, small effect sizes). Cluster analysis identified four distinct subgroups: one had good outcome and three had adverse outcomes characterized by weak global outcome, weak visual-processing outcome, or weak executive functioning outcome. While subgroups did not differ in clinical characteristics including TBI severity, the weak global outcome subgroup had more premorbid behavioral problems, and the good outcome subgroup had higher socioeconomic status.</div></div><div><h3>Conclusions</h3><div>This study indicates that children with mild to severe TBI exhibit neurocognitive deficits at 6 months post-TBI, among which subgroups of children with distinct neurocognitive outcome profiles exist. The neurocognitive outcome subgroups represent children with diverging severity and configuration of neurocognitive weaknesses. Clinical characteristics were not related to the outcome subgroups, highlighting the importance to consider other factors for the prognosis of neurocognitive outcome.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 103-111"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146023387","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}

{"title":"Tumefactive Demyelination in a Child With IKZF1 Gain-of-Function Variant","authors":"Tiffany Vuong BA ,&nbsp;Maeve C. Lucas BS ,&nbsp;Mariam M. Yousuf BS ,&nbsp;Samuel T. Otey BS ,&nbsp;Abhik K. Banerjee MD, PhD ,&nbsp;Jonathan D. Santoro MD","doi":"10.1016/j.pediatrneurol.2026.01.006","DOIUrl":"10.1016/j.pediatrneurol.2026.01.006","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 141-144"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146078516","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}

{"title":"Outcomes of Predrug Resistant Versus Postdrug Resistant Surgery in Children With Focal Cortical Dysplasia–Related Epilepsy: Drug Resistance Should Not Be the Threshold for Surgical Candidacy","authors":"Yuxin Wu PhD ,&nbsp;Zaiyu Zhang PhD ,&nbsp;Ping Liang PhD ,&nbsp;Lusheng Li PhD ,&nbsp;Bin Zou MSc ,&nbsp;Xuanxuan Wu PhD ,&nbsp;Difei Wang MSc ,&nbsp;Xinyu Dong MSc ,&nbsp;Hanli Qiu MSc ,&nbsp;Haotian Tang MSc ,&nbsp;Kaiyi Kang MSc ,&nbsp;Xuan Zhai PhD","doi":"10.1016/j.pediatrneurol.2025.12.026","DOIUrl":"10.1016/j.pediatrneurol.2025.12.026","url":null,"abstract":"<div><h3>Background</h3><div>Surgical intervention has become an established treatment option for epilepsy, but its traditional indications are limited to drug resistant cases. This study compares outcomes of early surgery (predrug resistance) with traditional surgery (postdrug resistance) in focal cortical dysplasia (FCD)-related epilepsy, providing clinical evidence for early surgical intervention.</div></div><div><h3>Methods</h3><div>Medical records of FCD-related epilepsy children who underwent 1.5 T or 3T brain magnetic resonance imaging at our center (Jan 2008-Dec 2022) were reviewed. Children were divided into early surgery and traditional surgery groups based on treatment pathway. Postoperative seizure outcomes, antiseizure medication (ASM) outcomes, seizure duration, and ASM usage were compared.</div></div><div><h3>Results</h3><div>Of the 195 children with magnetic resonance imaging–confirmed FCD who met the inclusion criteria, 167 (85.6%) were diagnosed with FCD-related epilepsy. Median follow-up duration was 61 months. Twenty-eight (16.7%) achieved seizure freedom with the first ASM, while 5.6% and 5.4% achieved seizure freedom with the second and third or more ASMs, respectively. Ninety-nine children received surgical treatment, with 45 undergoing early surgery and 54 receiving traditional surgery. At the last follow-up, significantly more children in the early surgery group (88.9%) achieved seizure freedom compared to the traditional surgery group (74.1%) (<em>P</em> = 0.033).</div></div><div><h3>Conclusions</h3><div>Early surgical evaluation can help identify candidates who may benefit from early surgery while maintaining comparable perioperative risks to traditional surgery. Therefore, it is necessary to refine the timing and criteria for epilepsy surgery evaluation. For patients with noneloquent cortical brain lesions, early surgery is recommended to reduce the duration of living with seizure.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 92-102"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146023384","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}

{"title":"Editorial Board and Masthead","authors":"","doi":"10.1016/S0887-8994(26)00041-X","DOIUrl":"10.1016/S0887-8994(26)00041-X","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages A1-A2"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147394802","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}

{"title":"The Impact of RNA Polymerase III–Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study","authors":"Adam Le MSc ,&nbsp;Kelly-Ann Thibault DEC ,&nbsp;Pouneh Amir Yazdani MD ,&nbsp;Alexandra Chapleau HBSc ,&nbsp;Romy J. van Voorst MSc ,&nbsp;Enrico Bertini MD ,&nbsp;Francesco Nicita MD, PhD ,&nbsp;Daniela Pohl MD, PhD ,&nbsp;Sunita Venkateswaran MD ,&nbsp;Stephanie Keller MD ,&nbsp;Deborah Renaud MD ,&nbsp;Dolores Gonzalez Moron MD, PhD ,&nbsp;Marcelo Kauffman MD, MSc, PhD ,&nbsp;Danilo De Assis Pereira MD ,&nbsp;Adeline Vanderver MD ,&nbsp;Marjo S. van der Knaap MD, PhD ,&nbsp;Maxime Morsa PhD ,&nbsp;Geneviève Bernard MD, MSc, FRCPc","doi":"10.1016/j.pediatrneurol.2025.12.004","DOIUrl":"10.1016/j.pediatrneurol.2025.12.004","url":null,"abstract":"<div><h3>Background</h3><div>RNA polymerase III–related hypomyelinating leukodystrophy (POLR3-HLD) is a rare, neurodegenerative, brain white matter disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. Due to the complex and progressive nature of this disorder, parents and siblings of patients face many potential challenges and stressors. We, therefore, sought to explore parents' and siblings’ experiences to understand their specific needs and identify modifiable factors to limit familial burden and improve their quality of life.</div></div><div><h3>Methods</h3><div>We conducted semistructured interviews with parents and siblings of patients with POLR3-HLD. Interview questions focused on the financial, emotional, and psychosocial impacts on parents, as well as siblings’ relationship with their affected sibling and the psychosocial impacts they may have experienced. All interviews were recorded, transcribed, and analyzed using reflexive thematic analysis. Through the coding process, themes surrounding the impact on and experiences of parents and siblings were developed.</div></div><div><h3>Results</h3><div>Nineteen semistructured interviews with 24 parents and nine interviews with 9 siblings were completed between March and October 2023 and February and May 2024, respectively. Four themes from parent interviews included extensive caregiver burden, emotional and psychosocial challenges, the importance of parental self-health, and comfort in the leukodystrophy community. Three themes from sibling interviews included the spectrum of emotional impacts, limited knowledge about POLR3-HLD, and adapting to their sibling's needs.</div></div><div><h3>Conclusions</h3><div>This study provides a comprehensive understanding of the family experience, identifying the common challenges and specific needs of parents and siblings, highlighting areas of improvement in the global care offered to this vulnerable patient population.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 31-40"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145927906","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}