Journal of Child Neurology最新文献

{"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}

{"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}

{"title":"Multiple Hypovitaminoses Presenting as Optic Disc Swelling in a Child with Autism Spectrum Disorder and Restrictive Eating.","authors":"Nagashreyaa Nagajothi, Ruben Jauregui, Scott N Grossman","doi":"10.1177/08830738251339570","DOIUrl":"https://doi.org/10.1177/08830738251339570","url":null,"abstract":"<p><p>Optic disc swelling, frequently associated with vitamin A toxicity, is infrequently linked to vitamin A deficiency. This report describes a 6-year-old male with autism spectrum disorder (ASD) and avoidant restrictive food intake disorder who presented with xerophthalmia, optic disc swelling, vision changes, and deficiencies in vitamins A, B₁, and iron. The patient's behavioral dysregulation posed important challenges for the evaluation, diagnosis, and treatment of his hypovitaminoses. This case underscores the importance of considering multiple nutritional deficiencies as the etiology of optic disc swelling in pediatric populations with autism spectrum disorder and avoidant restrictive food intake disorder, diagnoses that have increased in frequency. Early recognition and intervention can prevent further complications such as visual loss and improve outcomes.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251339570"},"PeriodicalIF":2.0,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101815","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":"Neurogenic Myositis Ossificans.","authors":"Shruti Thakur, Divyansh Kumar","doi":"10.1177/08830738251341532","DOIUrl":"https://doi.org/10.1177/08830738251341532","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251341532"},"PeriodicalIF":2.0,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101820","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":"New Clinical Phenotype in a Child Presenting With an <i>FHL1</i> Mutation.","authors":"Martha Finch, Sarah Oswald, Vamshi K Rao, Abigail Schwaede","doi":"10.1177/08830738251332749","DOIUrl":"https://doi.org/10.1177/08830738251332749","url":null,"abstract":"<p><p>There is a range of phenotypes associated with pathogenic variants in the <i>FHL1</i> gene, including X-linked dominant scapuloperoneal myopathy, X-linked myopathy with postural muscle atrophy, reducing body myopathy, Emery-Dreifuss muscular dystrophy, rigid-spine syndrome, and hypertrophic cardiomyopathy. This gene encodes the four-and-a-half LIM domain protein 1 which is highly expressed in skeletal and cardiac muscle. The function of this protein includes influencing cellular architecture, myoblast differentiation, mechanotransduction, and skeletal muscle fiber size. We report a case of a 6-year-old boy with a novel <i>FHL1</i> gene mutation who presented to the neuromuscular clinic for evaluation of stiffness, joint contractures, and mild proximal weakness. Symptoms first noted in the newborn period have been slowly progressive. The child's presentation has not been described before and represents a new clinical phenotype within the spectrum of <i>FHL1</i>-related disorders.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251332749"},"PeriodicalIF":2.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101822","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":"Cerebrovascular Vasospasms, Cerebral Sinus Venous Thrombosis, and Rapid Empyema Reaccumulation in a Child with a Coinfection of <i>Fusobacterium nucleatum</i> and <i>Prevotella loescheii</i>.","authors":"Rachel Geiser, Onilia Zorio, Brian Appavu","doi":"10.1177/08830738251339048","DOIUrl":"https://doi.org/10.1177/08830738251339048","url":null,"abstract":"<p><p><i>Fusobacterium nucleatum</i> and <i>Prevotella loescheii</i> are anaerobic gram-negative rods that exist in the oral cavity. To our knowledge, pediatric central nervous system complications with these pathogens have not been well described. An 11-year-old previously healthy vaccinated female child presented for 2 weeks of sinusitis that progressed to left arm and leg hemiplegia. Initial neuroimaging demonstrated a superior sagittal sinus thrombosis and a right hemispheric subdural empyema with midline shift, necessitating surgical evacuation. Culture of the subdural accumulation demonstrated coinfection of <i>Fusobacterium nucleatum</i> and <i>Prevotella loescheii</i>. Within 24 hours of evacuation, the patient progressed to have right hemispheric electrographic status epilepticus, with neuroimaging demonstrating reaccumulation of the empyema and a moderate right middle cerebral artery vasospasm. Transcranial doppler ultrasonography of the right middle cerebral artery territory demonstrated mean flow velocities up to 148 cm/s with a Lindengaard ratio of 3.44. The patient underwent repeat subdural evacuation and was managed with intravenous fluids, permissive hypertension, oral nimodipine, and intravenous milrinone. Electrographic status epilepticus was treated with intravenous lacosamide and levetiracetam. Repeat neuroimaging demonstrated improvement in subdural collection size and resolution of vasospasms. She was discharged after 16 days with continued lacosamide and levetiracetam for seizures, and enoxaparin (Lovenox) for the superior sagittal sinus thrombosis. We present a novel pediatric case of <i>Fusobacterium nucleatum</i> and <i>Prevotella loescheii</i> manifesting with rapid subdural empyema reaccumulation after surgical evacuation, status epilepticus, cerebrovascular vasospasms, and cerebral sinus venous thrombosis. Further work is needed to understand the potential neurologic complications of this condition.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251339048"},"PeriodicalIF":2.0,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144078109","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":"Surviving Grade 4 ICANS: A Case Report and Discussion of Emerging Management Strategies.","authors":"Alexander J Jonokuchi, Amy W Yu, Gurcharanjeet Kaur, Prakash Satwani, Ran Reshef, Sarah F Wesley","doi":"10.1177/08830738251335055","DOIUrl":"https://doi.org/10.1177/08830738251335055","url":null,"abstract":"<p><p>Chimeric antigen receptor (CAR) T-cell therapy is increasingly used in both oncologic and nononcologic conditions. Although low-grade neurotoxicity may be easily treated, severe neurotoxicity remains clinically challenging and many times fatal. We present the case of a young adult with relapsed acute lymphoblastic leukemia who developed grade 4 immune effector cell-associated neurotoxicity syndrome (ICANS), manifesting as severe cerebral edema refractory to first-line therapies. We share our treatment strategy consisting of multiple lines of targeted immunotherapy and proactive intracranial pressure monitoring. The patient survived and continues to remain in remission with meaningful neurologic recovery. Because of the growing use of chimeric antigen receptor T-cell therapies, neurologists need to be aware and ready to treat these potentially fatal cases.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251335055"},"PeriodicalIF":2.0,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144078317","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":"Experiences and Therapy Needs of Parents With an Infant at High Risk for Development of Unilateral Spastic Cerebral Palsy: A Qualitative Interview Study.","authors":"Cornelia H Verhage, Maria J C Eijsermans, Madelon Kleingeld, Marjolijn Ketelaar, Jan Willem Gorter, Linda S de Vries, Marco van Brussel, Agnes van den Hoogen","doi":"10.1177/08830738251335052","DOIUrl":"https://doi.org/10.1177/08830738251335052","url":null,"abstract":"<p><strong>Aim: </strong>To understand experiences and therapy needs of parents with an infant with unilateral perinatal brain injury and at high risk for unilateral spastic cerebral palsy in the first year. <b>Patients and Methods:</b> Sixteen parents (from 8 children with unilateral spastic cerebral palsy, 3 without) diagnosed with unilateral perinatal brain injury participated in semistructured interviews. Data were analyzed using thematic analysis. <b>Results:</b> The overarching theme, \"an unexpected journey,\" included 4 subthemes: (1) \"A roller coaster start\"-stressful initial experiences on a neonatal intensive care unit; (2) \"Wishing for a crystal ball\"-need for information on (future) development; (3) \"Reaching for the stars\"-value of therapist guidance in supporting infant development; (4) \"Growing seeds of confidence\"-increased parental confidence in their child's development and their role. <b>Conclusion:</b> Parents have information needs about their child's (future) neurodevelopment. Physical or occupational therapists provide information, monitor motor progress, and guide parents in supporting development and can offer needed reassurance.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251335052"},"PeriodicalIF":2.0,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144078250","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":"A Simple Intervention Improves Access to Telemedicine for Spanish-Speaking Families in an Outpatient Pediatric Epilepsy Clinic.","authors":"Pamela Pojomovsky McDonnell, Yessenia Ortiz, Nicholas S Abend, Michael C Kaufman, Julie Xian, Alexander K Gonzalez, Sara Molisani, Ingo Helbig","doi":"10.1177/08830738251337981","DOIUrl":"https://doi.org/10.1177/08830738251337981","url":null,"abstract":"<p><p>Telemedicine has become an established modality of care in pediatric neurology since the COVID-19 pandemic made it a necessity. However, prominent barriers have persisted for socially vulnerable families, including non-English-speaking families. In a cohort of Spanish-speaking families, we assessed the effect of an educational intervention in improving patient portal activation and use of telemedicine by doing a retrospective observational study. Among the 69 families assessed, 42 did not receive intervention, including 74% who already had patient portals and 26% without portal activation, and none of those 11 families subsequently activated the portal or underwent telemedicine. Among 27 families who received the intervention, 85% activated the portal, including 87% who participated in telemedicine visits. Results did not achieve statistical significance for accessing telemedicine but did for activating the portal. We postulate that a simple, brief educational intervention was effective in increasing access to neurologic telemedicine care in non-English-speaking families.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251337981"},"PeriodicalIF":2.0,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144078097","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":"Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families.","authors":"Francesco Gavazzi, Emily Yu, Zarrin Tashnim, Sarah Woidill, Anjana Sevagamoorthy, Kaley Arnold, Louisa Ammann-Schnell, Samuel Groeschel, Ingeborg Krägeloh-Mann, Vivian Breitling, Lars Schlotawa, Rebecca Ahrens-Nicklas, Laura A Adang","doi":"10.1177/08830738251339848","DOIUrl":"https://doi.org/10.1177/08830738251339848","url":null,"abstract":"<p><p>Despite their importance, rare diseases' impact on patients and families is understudied. This is particularly true for ultrarare disorders, such as multiple sulfatase deficiency (MSD), a pediatric neurodegenerative disorder. To address this gap, we captured caregiver perspectives on how multiple sulfatase deficiency affects their child, themselves, and their families regarding adaptive behaviors and health-related quality of life.Overall, 19 multiple sulfatase deficiency caregivers participated in assessments capturing health outcomes related to daily functional abilities (Vineland Adaptive Behavior Scale-Third Edition [VABS-3]: n = 19), child health-related quality of life (Caregiver Priorities and Child Health Index of Life with Disabilities: n = 12; Pediatric Quality of Life Inventory-generic core scales: n = 13), and caregiver health-related quality of life (Pediatric Quality of Life Inventory-family impact module: n = 12; Traumatic Brain Injury Caregiver Quality of Life: n = 15). The Pediatric Quality of Life Inventory-family impact module results were compared to a data set from metachromatic leukodystrophy (n = 30), a rare disease with an overlapping sulfatase deficiency.The Vineland Adaptive Behavior Scale-Third Edition captured global impairment across domains in multiple sulfatase deficiency. Despite these functional limitations, the Caregiver Priorities and Child Health Index of Life with Disabilities and Pediatric Quality of Life Inventory-generic core scales captured relative preservation of health-related quality of life, especially related to emotional well-being. Compared with the Pediatric Quality of Life Inventory-generic core scales, the Caregiver Priorities and Child Health Index of Life with Disabilities captured a broader spectrum of health-related quality of life across all domains and caregivers' top priorities in disease management and care coordination. The health-related quality of life of caregivers was severely impacted, with caregivers reporting profound feelings of grief and entrapment. Additionally, there was a similar caregiver burden between multiple sulfatase deficiency and metachromatic leukodystrophy.Our results will help inform psychosocial outcome measures for rare disease families and patient-centered endpoints in impending multiple sulfatase deficiency clinical trials.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251339848"},"PeriodicalIF":2.0,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144078252","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}