Journal of Child Neurology最新文献

{"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":"10.1177/08830738251335052","url":null,"abstract":"<p><p><b>Aim:</b> 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":"862-870"},"PeriodicalIF":1.6,"publicationDate":"2025-11-01","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":"Screening for Sleep Disturbances in Children and Adolescents with Tics, Headache Disorders or Type 1 Diabetes.","authors":"Charlotte P A Bengtsen, Cecilie Paulsrud, Steffen U Thorsen, Paul Jørgen Jennum, Jannet Svensson, Nanette M Mol Debes","doi":"10.1177/08830738251331750","DOIUrl":"10.1177/08830738251331750","url":null,"abstract":"<p><p>Sleep is essential for mental and physical well-being, yet it is often overlooked in children with medical conditions. To address this gap, we implemented screening for sleep disturbances to assess their prevalence in our clinics and identify potential intervention strategies. This cross-sectional study included children and adolescents aged 6-17 years with tics/Tourette syndrome, headaches, type 1 diabetes, and a healthy control group, who completed the validated Sleep Screening Questionnaire-Children and Adolescents (SSQ-CA).In total, 157 children with medical conditions and 117 healthy children completed the Sleep Screening Questionnaire-Children and Adolescents. Overall, 81.5% of the children with medical conditions reported a sleep disturbance compared with 70.9% in the healthy group (<i>P</i> = .28). Those with medical conditions reported poorer sleep quality (<i>P </i>< .001) and more awakenings (<i>P</i> = .047), as well as more frequent use of mobile/computer (<i>P</i> = .001) and television (<i>P</i> = .002) before bedtime compared with healthy children.We identified an alarmingly high prevalence of sleep disturbances in children with selected medical conditions, including more use of screens before bedtime, highlighting a significant yet frequently overlooked issue and possible target for intervention.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"811-823"},"PeriodicalIF":1.6,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143993979","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":"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":"882-888"},"PeriodicalIF":1.6,"publicationDate":"2025-11-01","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":"Heimler Syndrome: A Report of 2 Indian Children With Review of Literature.","authors":"Asha Bilamge, Pradeep Kumar Gunasekaran, Ashna Kumar, Rahul Gupta, Kandha Kumar U K, Sarbesh Tiwari, Lokesh Saini","doi":"10.1177/08830738251335053","DOIUrl":"10.1177/08830738251335053","url":null,"abstract":"<p><p>IntroductionHeimler syndrome 1 is a group of peroxisomal biogenesis disorders due to the pathogenic variations in the peroxisomal biogenesis factor 1 (<i>PEX1</i>) gene resulting in the dysfunction of intracellular peroxisomes. <i>PEX1</i> gene encodes proteins that are involved in the import of peroxisomal matrix proteins.PatientsA 6-year-old boy, second born to nonconsanguineous parents, presented with global developmental delay, progressive hearing loss, and night blindness. He had an uneventful antenatal and perinatal period. He had a significant family history with similar complaints of global developmental delay and progressive hearing loss in a 3-year-old younger sibling.ResultsOphthalmologic evaluation of both siblings revealed bilateral retinitis pigmentosa. Brainstem evoked response audiometry was suggestive of bilateral sensorineural hearing loss. Brain magnetic resonance imaging (MRI) of the index child revealed T2-weighted and fluid-attenuated inversion recovery hyperintensity involving the splenium of the corpus callosum, bilateral periatrial white matter without diffusion restriction. Whole exome sequencing revealed a heterozygous 5' splice site variant in intron-21 affecting donor splice site of exon-21 (c.3438+2T>C), and a heterozygous missense variant in exon-5 (p.Thr173Asn) of the <i>PEX1</i> gene.ConclusionWe report 2 cases of Heimler syndrome 1 with novel neuroimaging features with a review of the literature available on this very rare entity. Heimler syndrome 1 is a rare peroxisomal biogenesis disorder presenting with bilateral sensorineural hearing loss, retinitis pigmentosa, teeth, and nail changes. Children presenting with similar phenotypes should be genetically tested for pathogenic variations of <i>PEX1</i> and <i>PEX6</i> genes, as there are currently no biochemical signatures available for diagnosing Heimler syndrome and significant clinical overlap with other syndromes.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"832-837"},"PeriodicalIF":1.6,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144009318","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":"Why Supporting Children Is Key for Lifelong Brain Health.","authors":"Kimberly A O'Neill","doi":"10.1177/08830738251374841","DOIUrl":"https://doi.org/10.1177/08830738251374841","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":"40 10","pages":"809-810"},"PeriodicalIF":1.6,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145251441","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":"Powassan Virus Encephalitis in Pediatric Patients.","authors":"Celia Greenlaw, Rebecca MacRae, Molly Wilson-Murphy","doi":"10.1177/08830738251333465","DOIUrl":"10.1177/08830738251333465","url":null,"abstract":"<p><p>Powassan virus is a tickborne flavivirus that is a rare cause of encephalitis in humans. The incidence of cases is increasing in North America. We present 6 cases of Powassan virus encephalitis in pediatric patients diagnosed between 2018 and 2023 in the New England region of the United States. The age at diagnosis ranged from 14 months to 11 years. All patients presented with fever and confusion, and the majority also presented with seizures. All patients had lasting neurologic sequelae including seizures, movement disorders, behavioral problems, attention-deficit hyperactivity disorder (ADHD), learning problems, anxiety, and sleep disturbances. This is the largest pediatric case series of Powassan virus encephalitis to date. These cases demonstrate the emergence of Powassan virus as a rare, but severe, cause of encephalitis in children that has long-term neurologic consequences. We recommend increased clinical surveillance and public awareness of this increasingly prevalent tickborne disease.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"824-831"},"PeriodicalIF":1.6,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143998918","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 Novel Epilepsy Phenotype in a Young Girl With a Pathogenic <i>SETD5</i> Gene Variant.","authors":"Davide Alessi, Mariapaola Schifino, Giovanna Traficante, Giulia Gori, Emanuele Bartolini","doi":"10.1177/08830738251345038","DOIUrl":"10.1177/08830738251345038","url":null,"abstract":"<p><p>Recent studies suggest a possible association between variants in <i>SETD5</i> and epilepsy, particularly in individuals with intellectual disability and developmental delay. However, the current understanding of <i>SETD5</i> function in epilepsy is limited. We describe a 6-year-old girl harboring a pathogenic <i>SETD5</i> gene variant, disclosed in early infancy by whole exome sequencing that was performed for global developmental delay. Her neurologic phenotype evolved during follow-up to include focal and generalized seizures as well as an overt neurodevelopmental disorder, characterized by receptive-expressive language difficulties with speech disorder and mild cognitive impairment. Her clinical picture was also characterized by recurrent urinary tract infections in a duplex collecting system due to a concomitant and unrelated <i>GREB1L</i> gene variant. Our findings confirm that epilepsy may arise after <i>SETD5</i> variants, with subtle clinical manifestations that may overlap with behavioral phenomena in children who also exhibit cognitive and behavioral comorbidities.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"915-918"},"PeriodicalIF":1.6,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144215965","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":"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":"852-861"},"PeriodicalIF":1.6,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12240456/pdf/","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":"OA","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":"10.1177/08830738251341532","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"902-905"},"PeriodicalIF":1.6,"publicationDate":"2025-11-01","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":"Trio-Based Whole-Genome Sequencing for Critically Ill Pediatric Patients in Korea.","authors":"Seungbok Lee, June-Young Koh, Joonoh Lim, Jaeso Cho, Woojoong Kim, Yuna Lee, Boram Yi, Eunjung Joo, Dawoon Jung, Byung Chan Lim, Soo Yeon Kim, Jong-Hee Chae","doi":"10.1177/08830738251344996","DOIUrl":"10.1177/08830738251344996","url":null,"abstract":"<p><p>This study aimed to implement whole-genome sequencing using an automated pipeline for critically ill pediatric patients within a real-world health care system. Twenty patients under 36 months of age, admitted to the neonatal or pediatric intensive care unit or suspected of having rapidly progressive genetic disorders, were enrolled. Trio-based whole-genome sequencing was performed using an optimized processing pipeline, which automatically performed mapping, variant calling, annotation, and in silico pathogenicity assessment. Among 20 enrolled patients, 11 (55%) were from the neonatal intensive care unit, and 16 (80%) presented with neurologic manifestations as their chief complaint. The median time from symptom onset to study enrollment was 73 days for 18 patients referred from other hospitals and less than a week for 2 in-hospital patients. The median turnaround time for whole-genome sequencing was 10 days, with the shortest being 5 days. A definite or presumed genetic diagnosis was made in 11 patients (55%), including 10 of 16 with neurologic symptoms (62.5%) and 1 of 4 with nonneurologic symptoms (25%). Management plans were modified for 8 of the 11 patients (72.7%), including medication changes, diet modifications, and preimplantation genetic testing for future pregnancies. This study highlights the feasibility and clinical utility of whole-genome sequencing in critically ill pediatric patients in Korea, demonstrating a high diagnostic yield and significant impact on patient management, particularly among those presenting with neurologic symptoms. Establishing a nationwide fast-track system and providing detailed testing indications are required for effective implementation. Further automation and resource optimization could reduce the turnaround time and improve the efficacy of whole-genome sequencing in critical care settings.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"889-899"},"PeriodicalIF":1.6,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266276","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}