Journal of Child Neurology最新文献_第3页

Laser Interstitial Thermal Therapy for the Treatment of Mesial Temporal Lobe Epilepsy in Children. 激光间质热疗法治疗儿童内侧颞叶癫痫。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-05-01 Epub Date: 2025-01-31 DOI: 10.1177/08830738241312262

Aditi M Trivedi, Maria A Montenegro, David Gonda, Olivia Kim-McManus, Neggy Rismanchi, Aliya Frederick, Natalie Guido-Estrada, Anuja Jindal, Shifteh Sattar

{"title":"Laser Interstitial Thermal Therapy for the Treatment of Mesial Temporal Lobe Epilepsy in Children.","authors":"Aditi M Trivedi, Maria A Montenegro, David Gonda, Olivia Kim-McManus, Neggy Rismanchi, Aliya Frederick, Natalie Guido-Estrada, Anuja Jindal, Shifteh Sattar","doi":"10.1177/08830738241312262","DOIUrl":"10.1177/08830738241312262","url":null,"abstract":"ObjectiveFew studies have explored the efficacy of laser interstitial thermal therapy in pediatric epilepsy surgery. This study aims to evaluate seizure-free outcomes in children and adolescents with mesial temporal lobe epilepsy who underwent laser interstitial thermal therapy.MethodsThis was a retrospective cohort study performed at a level 4 epilepsy center. All patients had comprehensive presurgical epilepsy evaluations with a consensus treatment decision made by a multidisciplinary team. Brain magnetic resonance imaging (MRI) data were used to determine lesional vs nonlesional groups. All laser interstitial thermal therapy procedures were performed using Visualase laser ablation systems by the neurosurgical team. Seizure-free outcomes were measured according to the Engel surgical outcome scale.ResultsThis study included 19 patients (12 girls, 7 boys). Age of epilepsy onset ranged from 2 to 17 years (mean 9.9 years), and age at time of surgery ranged from 8 to 20 years (mean 15.1 years). Ten patients (52.5%) had signs of hippocampal sclerosis on MRI (lesional group), and 9 patients (47.5%) had a normal brain MRI (nonlesional group). Engel 1 score was achieved by 14 of 19 patients (73.5%): 9 of 10 patients (90%) in the lesional group and 5 of 9 patients (55.5%) in the nonlesional group. Younger age of seizure onset was a predictor of better postsurgical outcome, but no other outcome predictors could be established.ConclusionLaser interstitial thermal therapy is safe and effective for the treatment of drug-resistant mesial temporal lobe epilepsy in children, rendering more favorable seizure-free outcomes in pediatric patients with hippocampal atrophy than in those with nonlesional mesial temporal lobe epilepsy.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"342-347"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143065755","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}

引用次数: 0

Balamuthia Mandrillaris Central Nervous System Vasculitis in an Immunocompetent Child: Case Report. 免疫功能正常儿童中枢神经系统血管炎一例报告。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-05-01 Epub Date: 2024-12-19 DOI: 10.1177/08830738241307058

John Paul Aboubechara, Trishna Kantamneni, Katrina Pasao

引用次数: 0

Early Treatment in Preterm Twins With Spinal Muscular Atrophy. 早产双胞胎脊髓肌肉萎缩症的早期治疗

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-05-01 Epub Date: 2025-03-02 DOI: 10.1177/08830738251322224

Jacob Bistritzer, Dekel Avital, Inbal Golan-Tripto, Ramy Abramsky, Iris Noyman

引用次数: 0

Parental Perceptions of School Experiences for Children With Epilepsy. 家长对癫痫儿童学校经历的看法。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-05-01 Epub Date: 2025-01-21 DOI: 10.1177/08830738241309133

Mary Kay Irwin, Anup D Patel, Hannah Palme', Daniel M Cohen, Christopher Jones, Daniel Skinner

{"title":"Parental Perceptions of School Experiences for Children With Epilepsy.","authors":"Mary Kay Irwin, Anup D Patel, Hannah Palme', Daniel M Cohen, Christopher Jones, Daniel Skinner","doi":"10.1177/08830738241309133","DOIUrl":"10.1177/08830738241309133","url":null,"abstract":"Background: Given the centrality of school to the lives of the more than 450 000 US children living with epilepsy, their interface with schools related to medical and educational needs is critical. This qualitative study explores parental experiences with school systems for the care and education of their children with epilepsy. Methods: Two 90-minute focus groups were empaneled with a total of 11 caregivers of children with epilepsy. Facilitators, moderators, and recorders of each group performed semistructured interviews prompting discussion of families' experiences. Conversations were audio recorded, deidentified, transcribed, and coded. Results: Five central themes emerged: Lack of School Resources (46), Lack of School Support (36), Customized Educational Support Plans (32), Academic Impacts (24), and Positive School Support (22). Families demonstrated a lack of awareness of resources available for their children and reported using other families, advocacy groups, health teams, and others to help. Some participants felt burdened as their child's sole advocate through their educational journey, including educating staff on epilepsy care and fighting for individual educational plans or supplemental resources. Families described global adverse effects of their child's epilepsy on family function related to finances/work, relationships, and sibling depression/anxiety, as well as inconsistent staff education to support students with epilepsy and variable staffing. Conclusion: Families of children with epilepsy face barriers that inform potential areas of improvement within schools. Closer interface between the medical community and educational systems may bridge gaps to ease the burden on families of children with epilepsy.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"332-341"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143006210","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}

引用次数: 0

Williams-Beuren Syndrome and Epilepsy: A Retrospective Analysis of 589 Patients. Williams-Beuren综合征与癫痫：589例回顾性分析。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-05-01 Epub Date: 2025-01-22 DOI: 10.1177/08830738241305659

Johanna Pohl, Harry Nuss, Almuth Caliebe, Angela Gosch, Elke Reutershahn, Rainer Pankau, Hiltrud Muhle

引用次数: 0

Heimler Syndrome: A Report of 2 Indian Children With Review of Literature. 海姆勒综合征：2例印度儿童报告并文献复习。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-04-30 DOI: 10.1177/08830738251335053

Asha Bilamge, Pradeep Kumar Gunasekaran, Ashna Kumar, Rahul Gupta, Kandha Kumar U K, Sarbesh Tiwari, Lokesh Saini

{"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":"https://doi.org/10.1177/08830738251335053","url":null,"abstract":"IntroductionHeimler syndrome 1 is a group of peroxisomal biogenesis disorders due to the pathogenic variations in the peroxisomal biogenesis factor 1 (PEX1) gene resulting in the dysfunction of intracellular peroxisomes. PEX1 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 PEX1 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 PEX1 and PEX6 genes, as there are currently no biochemical signatures available for diagnosing Heimler syndrome and significant clinical overlap with other syndromes.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251335053"},"PeriodicalIF":2.0,"publicationDate":"2025-04-30","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}

引用次数: 0

Atypical Presentation of Congenital Muscular Dystrophy: A LAMA2 Related Muscular Dystrophy. 先天性肌营养不良的不典型表现：一种LAMA2相关的肌营养不良。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-04-29 DOI: 10.1177/08830738251333467

Sarah Oswald, Martha Finch, Abigail Schwaede

{"title":"Atypical Presentation of Congenital Muscular Dystrophy: A LAMA2 Related Muscular Dystrophy.","authors":"Sarah Oswald, Martha Finch, Abigail Schwaede","doi":"10.1177/08830738251333467","DOIUrl":"https://doi.org/10.1177/08830738251333467","url":null,"abstract":"The congenital muscular dystrophies are a group of inherited disorders that present in infancy or early childhood with generalized weakness and hypotonia as well as a wide range of other clinical manifestations. Merosin-deficient congenital muscular dystrophy, also referred to as LAMA2-related muscular dystrophy, is caused by biallelic pathogenic variants in the LAMA2 gene and can present with both an early-onset infantile and late-onset childhood form. Patients with the most severe phenotype typically present within the first few months of life with severe weakness and hypotonia and can develop contractures, scoliosis, dysphagia, as well as peripheral nerve and central nervous system abnormalities. We report a case of an infant that presented with focal weakness of his upper extremities that was initially thought to be due to cervical spinal abnormality or brachial plexus injury but was ultimately found to have Merosin-deficient congenital muscular dystrophy. This case highlights an atypical presentation of congenital muscular dystrophy and demonstrates the importance of having a low threshold for testing for congenital muscular dystrophies in infants with abnormalities in strength or tone.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251333467"},"PeriodicalIF":2.0,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144012955","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}

引用次数: 0

Intersectionality in Caregiving for Autism: A Discourse Analysis of Lived Experiences from Academic Literature. 自闭症照护的交叉性：来自学术文献的生活经验话语分析。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-04-29 DOI: 10.1177/08830738251334205

Nudurupati Venkata Tejo Prasanna, Monalisa Nayak

引用次数: 0

Powassan Virus Encephalitis in Pediatric Patients. 小儿波瓦桑病毒脑炎

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-04-27 DOI: 10.1177/08830738251333465

Celia Greenlaw, Rebecca MacRae, Molly Wilson-Murphy

引用次数: 0

Proceedings of the 48th Annual Southern Pediatric Neurology Society Meeting, New Orleans, LA, March 8, 2025. 第48届南方儿科神经学会年会论文集，新奥尔良，洛杉矶，2025年3月8日。