{"title":"Pseudopapilledema Related to Staphylomatous Optic Nerve Elevation in a Child.","authors":"Andrew Silverman, Shannon Beres","doi":"10.1177/08830738251328423","DOIUrl":"https://doi.org/10.1177/08830738251328423","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251328423"},"PeriodicalIF":2.0,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144199174","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Late-Onset Vitamin K Deficiency Resulting in Intracranial Bleeds: A Case Report and Literature Review.","authors":"Sunil Thatal, Susmin Karki, Sagar Mani Regmi, Sweta Bhandari, Rajesh Paudel","doi":"10.1177/08830738251342692","DOIUrl":"https://doi.org/10.1177/08830738251342692","url":null,"abstract":"<p><p>We report a case of a 24-day-old male neonate who presented with multiple episodes of apnea, poor feeding, excessive crying, irritability, vomiting, and yellowish discoloration. The patient did not receive a vitamin K injection at birth, and most likely, the neonate's dietary intake was insufficient to meet vitamin K requirements for coagulation, which resulted in an intracranial hemorrhage, which ultimately resulted in the mortality of the child.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251342692"},"PeriodicalIF":2.0,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144182248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Neurodiversity-Affirming Clinical Care: Principles and Pearls.","authors":"Talia Shear, Maya Ayoub, Diana Cejas, Alison Christy, Yolanda Holler-Managan, Uloma Labrie, Hannah King, Young-Min Kim","doi":"10.1177/08830738251340268","DOIUrl":"https://doi.org/10.1177/08830738251340268","url":null,"abstract":"<p><p>To provide the best possible care, neurologists must have a thorough understanding of the social and historical context of disability. Knowledge of the biology of neurologic conditions alone is insufficient. Currently, there is a scarcity of explicit education and training on disability beyond the traditional medical lens. Additionally, neurologists may be unfamiliar with the neurodiversity movement and its principles. This lack of awareness may inadvertently perpetuate ableist perspectives and practices, resulting in harm for our patients. In this article, we provide an overview of ableism and language-use considerations. We also discuss the history and current context of the neurodiversity movement and review neurodiversity-affirming core principles and clinical practices. This article offers perspective on an important shift in paradigms of the brain, as well as tools that can be used for a career-long commitment to excellent and equitable neurologic care.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251340268"},"PeriodicalIF":2.0,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144173952","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Impact of Optic Pathway Gliomas on Puberty and Growth in Neurofibromatosis Type 1: A 20-Year Experience From a Tertiary Center.","authors":"Robyn Haysom, Amish Chinoy","doi":"10.1177/08830738251341591","DOIUrl":"https://doi.org/10.1177/08830738251341591","url":null,"abstract":"<p><p>Children with neurofibromatosis type 1 have an increased incidence of optic pathway gliomas and central precocious puberty. This study explores whether the presence and location of optic pathway gliomas is associated with the changes in height and pubertal onset that are seen in these children. Retrospective analysis was undertaken of 75 individuals with a diagnosis of both neurofibromatosis type 1 and optic pathway gliomas, known to a single quaternary neurofibromatosis type 1 center, over a 20-year period. Central precocious puberty was more likely with optic pathway gliomas, observed in 28% of the cohort, and was associated with either optic chiasm involvement (<i>P</i> = .046) or bilateral optic pathway gliomas (<i>P</i> < .001). This is presumably due to disruption in the hypothalamic-pituitary axis. Height standard deviation scores were not significantly different from the general population. Increased clinical monitoring of pubertal status is consequently required for children with neurofibromatosis type 1 and an optic pathway glioma.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251341591"},"PeriodicalIF":2.0,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144150537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Broadening the Scope: Enhancing Caregiver Research in Christianson Syndrome Through Diversity and In-Depth Exploration.","authors":"Muhammad Khubaib Iftikhar, Qurat Ul Ain Iftikhar","doi":"10.1177/08830738251339568","DOIUrl":"https://doi.org/10.1177/08830738251339568","url":null,"abstract":"<p><p>The article by St. Pierre et al provides valuable insights into the challenges faced by caregivers of individuals with Christianson syndrome (CS), focusing on emotional burden, symptom progression, and coping strategies. However, several key areas require further exploration. The study's limited sample size and lack of demographic diversity may hinder the generalizability of its findings, as caregivers' experiences are shaped by cultural and geographic factors. Expanding the sample size and including caregivers from diverse backgrounds would offer a more comprehensive understanding of their needs. Furthermore, the study could have delved deeper into specific caregiver concerns, such as the diagnostic process and available support systems. Previous research underscores the importance of clear communication and robust support networks during the diagnostic journey of rare diseases. Future studies should prioritize larger, more diverse samples and explore critical areas such as diagnostic challenges, resource accessibility, and the efficacy of support systems to develop targeted interventions and improve caregiver outcomes.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251339568"},"PeriodicalIF":2.0,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144142500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Idiopathic Optic Perineuritis in a Pediatric Patient.","authors":"Cara Miller, NgocHanh H Vu, Richard B Carozza","doi":"10.1177/08830738251341771","DOIUrl":"https://doi.org/10.1177/08830738251341771","url":null,"abstract":"<p><p>Optic perineuritis is an inflammatory disorder of the optic nerve sheath, presenting with visual deficits, dyschromatopsia, and pain with extraocular movement, often confused with optic neuritis. Most cases are believed to be idiopathic but can be associated with autoimmune, infectious, and neoplastic etiologies. Treatment involves corticosteroids, and when administered promptly has been associated with rapid recovery. Delays in treatment have been linked to poor visual outcomes. Few pediatric cases have been described. We report a teenager who presented with 2 months of unilateral visual loss and paracentral scotoma, found to have optic perineuritis. She was treated aggressively with high-dose corticosteroids, therapeutic plasma exchange, and intravenous immunoglobulin, but had limited symptomatic recovery attributable to delays in seeking treatment. Optic perineuritis is rare in children but should be included in the differential for visual deficits, especially as delayed treatment is associated with irreversible visual loss. Further studies are needed for children to better identify underlying causes and establish consistent treatment paradigms.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251341771"},"PeriodicalIF":2.0,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144142503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Francesco Gavazzi, Ashley Martin, Anjana Sevagamoorthy, Ylenia Vaia, Ariel Vincent, Sarah Woidill, Russell D'Aiello, Sara B DeMauro, Scott A Lorch, Adeline Vanderver, Laura A Adang
{"title":"Experiences and Hope in Caregivers of Children With Aicardi Goutières Syndrome.","authors":"Francesco Gavazzi, Ashley Martin, Anjana Sevagamoorthy, Ylenia Vaia, Ariel Vincent, Sarah Woidill, Russell D'Aiello, Sara B DeMauro, Scott A Lorch, Adeline Vanderver, Laura A Adang","doi":"10.1177/08830738251341530","DOIUrl":"https://doi.org/10.1177/08830738251341530","url":null,"abstract":"<p><p>Aicardi Goutières syndrome is a type I interferonopathy that results in a spectrum of neurologic impairment. In general, neurodegenerative disorders of childhood strongly affect the quality of life and perspective of the whole caregiver network. This article aims to define the impact of Aicardi Goutières syndrome on affected individuals and families through a multimethod approach using quality of life surveys and qualitative interviews.Qualitative interviews (n = 45) and quality of life questionnaires, including the Pediatric Quality of Life-Generic Core (PedsQL-GC, n = 46) and Family Impact (PedsQL-FI, n = 45) modules, Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD, n = 30), and Caregiver Traumatic Brain Injury (TBI)-CareQoL (n = 37), were administered to caregivers of children with Aicardi Goutières syndrome. The open-ended interviews with guided questions addressed the caregivers' perception of Aicardi Goutières syndrome and determinants of quality of life. Interviews were conducted until thematic saturation and qualitative analyses generated salient themes. Per quality of life questionnaires, motor abilities and activities of daily living were more impaired compared with other domains (Comfort and Emotion, Psychosocial Health, [mixed effect analysis with Bonferroni correction, <i>P</i> < .0001; Wilcoxon signed-rank test, <i>P</i> < .0001, respectively). In the qualitative interviews, families described stress surrounding symptoms of Aicardi Goutières syndrome, poor neurologic development with communication and motor impairment, and the overall impact of the disease on the family. This study shows the profound effects of Aicardi Goutières syndrome on families, which have global implications for family life. CPCHILD and PedsQL-FI are the preferred tools for routinely assessing the impact of disease in the Aicardi Goutières syndrome population.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251341530"},"PeriodicalIF":2.0,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144119816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Prabal Barman, C V Gayathri, Sai Charan Madugula, Arushi Gahlot Saini, Rakesh Kumar Pilania
{"title":"Kawasaki Disease With Left abducens Nerve Palsy: A Rare Neurological Manifestation.","authors":"Prabal Barman, C V Gayathri, Sai Charan Madugula, Arushi Gahlot Saini, Rakesh Kumar Pilania","doi":"10.1177/08830738251340265","DOIUrl":"https://doi.org/10.1177/08830738251340265","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251340265"},"PeriodicalIF":2.0,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144110921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Pediatric-Onset Neuromyelitis Optica Spectrum Disorder: Long-term Follow-up and Therapeutic Challenges in a Treatment-Resistant Case.","authors":"Mehmet Fatih Yetkin, Şeyma Benli, Meral Mirza","doi":"10.1177/08830738251340278","DOIUrl":"https://doi.org/10.1177/08830738251340278","url":null,"abstract":"<p><p>Neuromyelitis optica spectrum disorder (NMOSD) is a severe autoimmune condition primarily affecting the optic nerve and spinal cord, often resulting in significant disability. This case study follows a 40-year-old female patient with pediatric-onset neuromyelitis optica spectrum disorder, initially misdiagnosed with multiple sclerosis, which led to inappropriate treatment and exacerbated her condition. Over the years, the patient received multiple immunosuppressive therapies-including azathioprine, rituximab, and tocilizumab-with limited clinical efficacy. The introduction of eculizumab, combined with azathioprine, eventually improved her disease control, albeit with some relapses. This case highlights the challenges in managing treatment-resistant neuromyelitis optica spectrum disorder and underscores the importance of accurate diagnosis and tailored therapies to improve long-term outcomes for patients. Ongoing research and personalized treatment strategies are crucial for effectively managing refractory cases.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251340278"},"PeriodicalIF":2.0,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144119817","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Simon P Paget, Sarah McIntyre, Amy von Huben, Kirsty Stewart, Tracey Williams, Emma Maly, Katrina Ford, Sue Woolfenden, Natasha Nassar
{"title":"Telemedicine for Children With Cerebral Palsy Before, During, and After the COVID-19 Pandemic: An Australian Cohort Study.","authors":"Simon P Paget, Sarah McIntyre, Amy von Huben, Kirsty Stewart, Tracey Williams, Emma Maly, Katrina Ford, Sue Woolfenden, Natasha Nassar","doi":"10.1177/08830738251339960","DOIUrl":"https://doi.org/10.1177/08830738251339960","url":null,"abstract":"<p><strong>Objective: </strong>To examine telemedicine use in children with cerebral palsy before, during and since the COVID-19 pandemic. <b>Methods:</b> A retrospective cohort study of 1162 children with cerebral palsy (40.3% female, birth years 2005-2017), attending specialist outpatient clinics at 2 pediatric hospitals in New South Wales, Australia. We categorized outpatient visits from January 2018 to May 2023 as in-person or telemedicine and compared usage pre-, during, and post-COVID-19 periods. Neighborhood socioeconomic disadvantage and geographical remoteness were defined by residential postcode. <b>Results:</b> Of 48 896 outpatient encounters, 11 929 (24.4%) used telemedicine. Telemedicine rates increased during COVID-19 (20.2 per 100 persons/month) and declined post-COVID-19 (15.2 per 100 persons/month, <i>P</i> < .001). Neighborhood socioeconomic disadvantage was associated with higher median outpatient and telemedicine encounter rates. Regional/remote children had lower median outpatient and telemedicine rates. <b>Conclusion:</b> Telemedicine use declined since lifting of COVID-19 pandemic restrictions. Further support will be required to sustain rates and learn from pandemic experiences.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251339960"},"PeriodicalIF":2.0,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144119818","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}