Journal of Child Neurology最新文献

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Hammersmith Neonatal and Infant Neurological Examinations Scores in Typically Developing Infants Aged 1-6 Months. 1-6 个月发育正常婴儿的哈默史密斯新生儿和婴儿神经系统检查评分。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-01-01 Epub Date: 2024-09-27 DOI: 10.1177/08830738241282722
Julie C Skorup, Samuel R Pierce, Noor Ruwaih, Sara B DeMauro, Michelle J Johnson, Laura A Prosser
{"title":"Hammersmith Neonatal and Infant Neurological Examinations Scores in Typically Developing Infants Aged 1-6 Months.","authors":"Julie C Skorup, Samuel R Pierce, Noor Ruwaih, Sara B DeMauro, Michelle J Johnson, Laura A Prosser","doi":"10.1177/08830738241282722","DOIUrl":"10.1177/08830738241282722","url":null,"abstract":"<p><p>The Hammersmith Neonatal (HNNE) and Infant (HINE) Neurological Examinations are increasingly used to evaluate developing neuromotor control in infants at risk for physical disability, but there is no global consensus on score interpretation across the first 6 months after birth. We report scores for typically developing, full-term infants aged 1 month for the HNNE and aged 2-6 months for the HINE. The median HNNE and HINE scores are consistent with previously published data. These normative data can be used to aid in the interpretation of HNNE and HINE scores from infants at risk for neuromotor impairment.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"10-14"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142347555","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
Vascular Abnormalities and Neurofibromatosis Type 1: A Paediatric Case Series. 血管异常与神经纤维瘤病 1 型:儿科病例系列。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-01-01 Epub Date: 2024-10-09 DOI: 10.1177/08830738241284081
Paolo Currao, Marta Balzarini, Dario Pruna, Monica Marica, Consolata Soddu, Mariangela Marras, Marco Pavanello, Stefania Satta, Salvatore Savasta
{"title":"Vascular Abnormalities and Neurofibromatosis Type 1: A Paediatric Case Series.","authors":"Paolo Currao, Marta Balzarini, Dario Pruna, Monica Marica, Consolata Soddu, Mariangela Marras, Marco Pavanello, Stefania Satta, Salvatore Savasta","doi":"10.1177/08830738241284081","DOIUrl":"10.1177/08830738241284081","url":null,"abstract":"<p><p>Neurofibromatosis type 1 (NF1) is a multisystemic neurocutaneous disease caused by a heterozygous mutation of the <i>NF1</i> gene that encodes neurofibromin. Complications include vascular and neurologic abnormalities such as moyamoya syndrome, a cerebrovascular disorder with progressive occlusion of the large intracranial arteries, leading to ischemic events and the formation of abnormal vascular networks. Stenosis of the renal artery is another frequent complication of neurofibromatosis type 1, and it represents the most common cause of secondary hypertension in these patients. The purpose of the article is to describe the clinical manifestations of neurofibromatosis type 1 vasculopathy in 4 patients presenting with a wide range of neurologic and reno-vascular manifestations, as well as to examine current diagnostic management and follow-up, current therapeutic options, and to discuss further perspectives in terms of screening, diagnosis, and treatment.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"49-60"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142390874","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
Determination of Health Concepts in β-Propeller Protein-Associated Neurodegeneration. 确定β-螺旋桨蛋白相关神经变性的健康概念。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-01-01 Epub Date: 2024-10-08 DOI: 10.1177/08830738241283932
Emma Kotes, Francesco Gavazzi, Sarah Woidill, Anjana Sevagamoorthy, Eric Yang, Vanessa Smith, Holly Dubbs, Samuel R Pierce, Kristy Pucci, Joseph Vithayathil, Nivedita Thakur, Laura A Adang
{"title":"Determination of Health Concepts in β-Propeller Protein-Associated Neurodegeneration.","authors":"Emma Kotes, Francesco Gavazzi, Sarah Woidill, Anjana Sevagamoorthy, Eric Yang, Vanessa Smith, Holly Dubbs, Samuel R Pierce, Kristy Pucci, Joseph Vithayathil, Nivedita Thakur, Laura A Adang","doi":"10.1177/08830738241283932","DOIUrl":"10.1177/08830738241283932","url":null,"abstract":"<p><p>β-Propeller protein-associated neurodegeneration (BPAN) is a rare, X-linked condition caused by pathogenic variants in the <i>WDR45</i> gene that result in a defect of autophagy. Classified as a disorder of neurodegeneration with brain iron accumulation, β-propeller protein-associated neurodegeneration is associated with severe neurologic impairments. With the anticipation of future therapeutic trials, this project characterizes the family's perspective of the impact of disease and defines Health Concepts (HC).Children with a molecularly confirmed diagnosis of β-propeller protein-associated neurodegeneration were enrolled in a prospective natural history study. We administered the Vineland Adaptive Behavior Scales-Third Edition and provided health-related quality of life questionnaires to 42 caregivers. Questionnaires included Pediatric Quality of Life Inventory-Generic Core and Pediatric Quality of Life Inventory-Family Impact modules, Caregiver Priorities and Child Health Index of Life with Disabilities, and Caregiver TBI-CareQoL.The Vineland Adaptive Behavior Scales-Third Edition (n = 42) captured the family's perspective that communication was more affected compared with socialization, activities of daily living (ADL), and motor skills (<i>P</i> < .0001, <i>P</i> < .0001, <i>P</i> = .0053, respectively). Similarly, on the Caregiver Priorities and Child Health Index of Life with Disabilities (n = 26), Pediatric Quality of Life Inventory-Generic Core (n = 27), CareQol (n = 26), and Pediatric Quality of Life Inventory-Family Impact (n = 27), communication abilities, as well as social functioning and activities of daily living, were noted to be most impacted.Through the use of standardized surveys and outcome assessments, we establish the effects of β-propeller protein-associated neurodegeneration on caregiver quality of life. Key health concepts identified by families included overall health, comfort, and communication. The identified HC will inform the future identification of concept of interest and selection of appropriate clinical outcome assessments through the administration of patient-reported outcomes.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"15-25"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11598671/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142390870","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}
引用次数: 0
First-Drug Efficacy and Drug-Resistant Epilepsy Rates in Children With New-Onset Epilepsies: A Multicenter Large Cohort Study. 新发癫痫儿童的首药疗效和耐药癫痫率:多中心大型队列研究。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-01-01 Epub Date: 2024-09-30 DOI: 10.1177/08830738241283711
Pinar Gencpinar, Pinar Arican, Nihal Olgac Dündar, Betül Kilic, Esra Sarigecili, Cetin Okuyaz, Kursad Aydin, Hasan Tekgul
{"title":"First-Drug Efficacy and Drug-Resistant Epilepsy Rates in Children With New-Onset Epilepsies: A Multicenter Large Cohort Study.","authors":"Pinar Gencpinar, Pinar Arican, Nihal Olgac Dündar, Betül Kilic, Esra Sarigecili, Cetin Okuyaz, Kursad Aydin, Hasan Tekgul","doi":"10.1177/08830738241283711","DOIUrl":"10.1177/08830738241283711","url":null,"abstract":"<p><p><b>Objective:</b> This study aimed to assess the first-drug efficacy rate in newly diagnosed children with epilepsies treated with antiseizure medications. <b>Methods:</b> This retrospective study was conducted on 1003 children (age range: 3-10 years, and the mean duration of follow-up: 22 ± 13 months) with newly diagnosed epilepsy. The following parameters were evaluated: first-drug efficacy rate, first-drug-failure rate, and drug resistance rate in the cohort. <b>Results:</b> The first-drug-failure rate was defined in 335/1003 (33%) of the patients, no seizure control in 315 (31%), and drug withdrawal in 20 (2%). There was no significant difference between the group with focal-onset seizures and the group with generalized onset seizures. The first-drug efficacy rate was 67% in children with focal-onset seizures and 66% in children with generalized-onset seizures. Adjunctive antiseizure medication therapy was initiated in 335 patients-dual therapy with 180 patients (18%) and polytherapy with 155 (15%). Drug-resistant epilepsy was defined as 15% in the follow-up period. Etiology-specific diagnoses of the cohort were structural (n = 165, 17%), genetic (n = 25, 3%), metabolic (n = 15%), immune-infectious (n = 17 (2%), and unknown (n = 781, 77%). With a comparison of the 2 most common etiology subgroups (structural versus unknown), a first-drug efficacy rate of 53% and a higher prevalence of drug-resistant epilepsy at 30% were observed in children with structural etiology. First-drug efficacy was statistically lower in children without well-defined epilepsy syndromes (65%) compared with the rate of those with well-defined epilepsy syndrome (79%). <b>Conclusion:</b> This study revealed a first-drug failure rate (33%) in the presented cohort with a drug-resistance epilepsy rate (15%).</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"5-9"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142347554","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
The Initial Experience of Eslicarbazepine in Children at Three Canadian Tertiary Pediatric Care Centers. 加拿大三家三级儿科护理中心在儿童中使用艾司卡西平的初步经验。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-01-01 Epub Date: 2024-10-08 DOI: 10.1177/08830738241282903
Yvonne Nyakeri, Qi Xu, Maryam Nouri, Denait Haile, Anita N Datta
{"title":"The Initial Experience of Eslicarbazepine in Children at Three Canadian Tertiary Pediatric Care Centers.","authors":"Yvonne Nyakeri, Qi Xu, Maryam Nouri, Denait Haile, Anita N Datta","doi":"10.1177/08830738241282903","DOIUrl":"10.1177/08830738241282903","url":null,"abstract":"<p><strong>Introduction: </strong>Eslicarbazepine (ESL) is a once-daily, third-generation antiseizure medication for focal-onset seizures. The primary mechanism of action is enhancing the slow inactivation of voltage-gated sodium channels. The study objective was to review real-world experience regarding retention rate, efficacy, and tolerability of eslicarbazepine, soon after it became available for children in Canada.</p><p><strong>Methods: </strong>A retrospective review was performed on all patients prescribed eslicarbazepine from September 2017 to June 2020, with at least 3 years of follow-up data, at 3 Canadian tertiary care pediatric centers.</p><p><strong>Results: </strong>Fifty patients were identified, and the mean age of eslicarbazepine initiation was 12.4 years (range 3-19 years). Most patients had drug-resistant epilepsy, trying a mean of 5.04 (range 0-14) antiseizure medications before the initiation of eslicarbazepine. Twenty-four patients (48.0%) experienced adverse effects, including dizziness (n = 10), drowsiness (n = 6), dizziness and drowsiness (n = 1), nausea and abdominal pain (n = 4), transient unsteadiness and diplopia (n = 1), and negative mood changes (n = 2). None had serious adverse effects, including rash. The retention rate of eslicarbazepine at last follow-up was 70%. Fifteen (30%) had ≥50% seizure reduction, with 2 of these patients becoming seizure free. Ten (20%) had 25% to 50% reduction, 2 (4%) had worsening of seizures, and 17 (34%) had no change in seizure frequency.</p><p><strong>Conclusion: </strong>The study results support the long-term effectiveness and tolerability of eslicarbazepine in a cohort of children with predominantly drug-resistant epilepsy in a real-life setting from 3 Canadian centers with initial use after approval. Adverse effects were nonserious, infrequently leading to eslicarbazepine discontinuation.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"39-48"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590393/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142390873","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}
引用次数: 0
Anti-CD20 Therapy in Children With Severe Epstein-Barr Virus-Associated Meningoencephalitis. 重症爱泼斯坦-巴氏病毒相关脑膜脑炎患儿的抗 CD20疗法
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-01-01 Epub Date: 2024-09-05 DOI: 10.1177/08830738241276972
Sana Ahsan, Saba Jafarpour, Mellad M Khoshnood, Deepti Nagesh, Eugenia Ho, Nusrat Ahsan, Jonathan D Santoro
{"title":"Anti-CD20 Therapy in Children With Severe Epstein-Barr Virus-Associated Meningoencephalitis.","authors":"Sana Ahsan, Saba Jafarpour, Mellad M Khoshnood, Deepti Nagesh, Eugenia Ho, Nusrat Ahsan, Jonathan D Santoro","doi":"10.1177/08830738241276972","DOIUrl":"10.1177/08830738241276972","url":null,"abstract":"<p><p>Epstein-Barr virus meningoencephalitis is a rare central nervous system infection that lacks standardized treatment. Immunocompetent and immunosuppressed individuals with this condition frequently have poor prognostic outcomes, making the need to identify therapeutic interventions high. Here, we report 2 pediatric cases of severe Epstein-Barr virus meningoencephalitis, both unresponsive to immunoglobulin and corticosteroid therapy, who demonstrated rapid clinical recovery following rituximab administration. Prognostic outcomes revealed marked improvements in symptoms, neurologic function, and quality of life. Rituximab may offer therapeutic potential in severe and refractory Epstein-Barr virus meningoencephalitis through the medication's target of Epstein-Barr virus harboring B cells. This report emphasizes the need for timely evaluation and consideration of rituximab therapy in immunocompetent pediatric patients with Epstein-Barr virus meningoencephalitis.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"61-66"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142132847","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
Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study. POLR3 相关性白质营养不良症患儿父母的压力与生活质量:一项横断面试点研究。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-01-01 Epub Date: 2024-10-21 DOI: 10.1177/08830738241283171
Laura Lentini, Helia Toutounchi, Alexandra Chapleau, Adam Le, Simon Fournier, Fatemeh Emari, Robert Flamini, Andrea Rossi, Angela Gentile, Enrico Bertini, Francesco Nicita, Daniela Pohl, Sunita Venkateswaran, Stephanie Keller, Elsa Rossignol, Deborah Renaud, Danilo De Assis Pereira, Xiaoru Chen, Adeline Vanderver, Geneviève Bernard
{"title":"Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study.","authors":"Laura Lentini, Helia Toutounchi, Alexandra Chapleau, Adam Le, Simon Fournier, Fatemeh Emari, Robert Flamini, Andrea Rossi, Angela Gentile, Enrico Bertini, Francesco Nicita, Daniela Pohl, Sunita Venkateswaran, Stephanie Keller, Elsa Rossignol, Deborah Renaud, Danilo De Assis Pereira, Xiaoru Chen, Adeline Vanderver, Geneviève Bernard","doi":"10.1177/08830738241283171","DOIUrl":"10.1177/08830738241283171","url":null,"abstract":"<p><p><b>Background:</b> RNA polymerase III (POLR3)-related leukodystrophy is a rare, neurodegenerative disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. Despite the challenges of caring for a child with POLR3-related leukodystrophy, few studies have examined parents' disease burden. We sought to investigate quality of life and stress levels amongst parents of children with POLR3-related leukodystrophy. <b>Methods:</b> 43 parents of 32 children completed questionnaires on demographics, stress, quality of life, coping mechanisms, and experience of injustice. Detailed clinical data was collected from all patients. <b>Results:</b> Mothers (<i>t</i>[27] = -8.66, <i>P </i>< .001) and fathers (t[16] = -4.47, <i>P </i>< .001) had lower quality of life scores compared to the normative population, yet 80% of parents' stress scores fell within the normal stress range. Parents' experience of injustice scores were high (>60). Correlations were found between and within parents' scores. Years since disease onset and certain life circumstances correlated to mothers' quality of life scores; however, no correlation was found between modifiable factors and fathers' quality of life scores. Helpful coping mechanisms included those that allowed parents to be involved in their child's life. <b>Conclusions:</b> This is the first study to assess stress and quality of life in this population. These results shed light on the importance of implementing services and social support to improve the well-being of parents.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"26-38"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590388/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142466518","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}
引用次数: 0
Balamuthia Mandrillaris Central Nervous System Vasculitis in an Immunocompetent Child: Case Report.
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2024-12-19 DOI: 10.1177/08830738241307058
John Paul Aboubechara, Trishna Kantamneni, Katrina Pasao
{"title":"<i>Balamuthia Mandrillaris</i> Central Nervous System Vasculitis in an Immunocompetent Child: Case Report.","authors":"John Paul Aboubechara, Trishna Kantamneni, Katrina Pasao","doi":"10.1177/08830738241307058","DOIUrl":"https://doi.org/10.1177/08830738241307058","url":null,"abstract":"<p><p><i>Balamuthia mandrillaris</i> granulomatous amebic encephalitis is a rare disease that is associated with a high rate of mortality. Delays in diagnosis and treatment are common because of limited information on the organism in addition to its nonspecific clinical presentation. Prior reports have demonstrated that the encephalitis presents as multifocal lesions throughout the central nervous system with enhancement and edema. Here we report a case involving a 4-year-old previously healthy female child with a novel pathologic presentation of <i>B mandrillaris</i> infection, including vasculitis involving multiple large intracranial vessels as well as inflammation of multiple cranial nerves. The infection was ultimately fatal despite early diagnosis and initiation of targeted treatment.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738241307058"},"PeriodicalIF":2.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854450","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
Comprehensive Clinical and Genetic Characterization of Kabuki Syndrome: A Case Series Study.
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2024-12-16 DOI: 10.1177/08830738241291622
Salvatore Michele Carnazzo, Desirèe Balconara, Francesco Caruso, Giusi Maria Caltabiano
{"title":"Comprehensive Clinical and Genetic Characterization of Kabuki Syndrome: A Case Series Study.","authors":"Salvatore Michele Carnazzo, Desirèe Balconara, Francesco Caruso, Giusi Maria Caltabiano","doi":"10.1177/08830738241291622","DOIUrl":"https://doi.org/10.1177/08830738241291622","url":null,"abstract":"<p><p>Kabuki syndrome is a rare congenital disorder characterized by a distinctive combination of craniofacial features, developmental anomalies, and intellectual disabilities. This study aims to provide a comprehensive exploration of Kabuki syndrome through a meticulous case series analysis focusing on its clinical features and genetic underpinnings. A cohort of 9 Kabuki syndrome patients was identified through a retrospective examination of medical records spanning from 1996 to 2022. These patients underwent various clinical assessments, radiologic investigations, neuropsychological evaluations, and targeted genetic analyses, specifically focusing on the <i>KMT2D</i> and <i>KDM6A</i> genes.The median age of diagnosis was approximately 4.7 years, with a male-to-female ratio of 6:3. Prominent clinical characteristics included distinctive facial features such as arched eyebrows, elongated eyelashes, ear abnormalities, fingertip pads, nasolabial anomalies, and oral alterations. Ophthalmologic and otologic manifestations were notable, alongside a spectrum of cardiovascular, gastrointestinal, and endocrine aberrations. The prevalence of neuropsychological disorders highlighted the cognitive and behavioral challenges experienced by Kabuki syndrome patients. Genetic investigations confirmed the involvement of variants in the <i>KMT2D</i> and <i>KDM6A</i> genes in the pathogenesis of Kabuki syndrome. In conclusion, this study emphasizes the importance of precise diagnosis, the adoption of a multidisciplinary care approach, and the tailored interventions for individuals affected by Kabuki syndrome. Furthermore, it underscores the need for continued research efforts to unravel the genetic intricacies and molecular mechanisms underlying this enigmatic syndrome.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738241291622"},"PeriodicalIF":2.0,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142836666","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
Exploring the Correlations Between Language Impairments, Central Auditory Processing Disorder, Neuropsychiatric Functions, and Seizure Timing in Children With Self-Limited Epilepsy With Centrotemporal Spikes.
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2024-12-15 DOI: 10.1177/08830738241304864
Oğuzhan Tin, Sema Saltık, Halide Çetin Kara, Zehra Koyuncu, Kevser Sak, Aysun Ayaz Sarı, Burak Doğangün, Serhat Güler
{"title":"Exploring the Correlations Between Language Impairments, Central Auditory Processing Disorder, Neuropsychiatric Functions, and Seizure Timing in Children With Self-Limited Epilepsy With Centrotemporal Spikes.","authors":"Oğuzhan Tin, Sema Saltık, Halide Çetin Kara, Zehra Koyuncu, Kevser Sak, Aysun Ayaz Sarı, Burak Doğangün, Serhat Güler","doi":"10.1177/08830738241304864","DOIUrl":"https://doi.org/10.1177/08830738241304864","url":null,"abstract":"<p><strong>Background: </strong>Children with self-limited epilepsy with centrotemporal spikes often face language impairments and central auditory processing difficulties. The correlations between these issues, seizure timing, and neuropsychiatric challenges are not fully understood. This study delves into the connections between language impairments and central auditory processing difficulties in cases with self-limited epilepsy with centrotemporal spikes, examining their links with seizure occurrence and neuropsychiatric function.</p><p><strong>Materials and methods: </strong>Patients with self-limited epilepsy with centrotemporal spikes were categorized based on seizure timing: group 1 experienced seizures postbedtime, and group 2 prewaking. Both, alongside controls, underwent the Turkish Expressive and Receptive Language Test (TIFALDI) for language skills, and the Frequency Pattern and Duration Pattern tests for central auditory processing difficulties. Neuropsychiatric assessments involved the Wechsler Intelligence Scale for Children-Revised, the Strengths and Difficulties Questionnaire, the Conners Parent Rating Scale-Revised Short, and the Barratt Impulsiveness Scale-11.</p><p><strong>Results: </strong>The study comprised 56 patients with self-limited epilepsy with centrotemporal spikes (ages 6-13) and 32 healthy controls. Both groups significantly lagged behind controls on the Frequency Pattern and Duration Pattern tests (<i>P</i> < .001). In the TIFALDI, the expressive language scores varied between group 1 and controls (<i>P</i> = .04) but not the receptive language scores or the test's expressive and receptive language results between group 2 and controls (<i>P</i> > .05). In the Strengths and Difficulties Questionnaire, group 1 diverged from controls in behavioral and kind and helpful behavior scores (<i>P</i> = .016 and <i>P</i> = .012). Group 1's Barratt Impulsiveness Scale-11 values surpassed controls' (<i>P</i> = .038).</p><p><strong>Conclusion: </strong>Children with self-limited epilepsy with centrotemporal spikes have a high central auditory processing difficulties prevalence, regardless of seizure timing. Those with postsleep seizures tend to confront expressive language difficulties, alongside issues in prosocial behavior and impulsivity.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738241304864"},"PeriodicalIF":2.0,"publicationDate":"2024-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142828731","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
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