Journal of Child Neurology最新文献

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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
Fetal Alcohol Spectrum Disorder and Pediatric Neurology: Are We Missing the Connection? A Scoping Review. 胎儿酒精谱系障碍和儿童神经病学:我们是否错过了其中的联系?范围审查。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2024-12-23 DOI: 10.1177/08830738241303328
Michael Burd, James Miles, Graysen Myers, Bailey Engesether, Erika Johnson
{"title":"Fetal Alcohol Spectrum Disorder and Pediatric Neurology: Are We Missing the Connection? A Scoping Review.","authors":"Michael Burd, James Miles, Graysen Myers, Bailey Engesether, Erika Johnson","doi":"10.1177/08830738241303328","DOIUrl":"https://doi.org/10.1177/08830738241303328","url":null,"abstract":"<p><strong>Introduction: </strong>Pediatric neurology provides care for children with complex developmental disorders with environmental, genetic, metabolic, and teratogenic etiologies. Common neurodevelopmental conditions include attention-deficit hyperactivity disorder (ADHD), and autism spectrum disorder. However, only minimal attention from pediatric neurology journals has been devoted to fetal alcohol spectrum disorder. This is surprising because fetal alcohol spectrum disorder is a common neurodevelopmental disorder with a prevalence of between 1% and 5% of school-age children.</p><p><strong>Methods: </strong>This scoping review had 2 objectives. Objective 1 was to estimate the number of articles reporting on fetal alcohol spectrum disorder in 8 well-respected pediatric neurology journals. Objective 2 was to determine how many patients from a single pediatric neurology practice referred to a clinic for diagnosis and management of neurobehavioral disorders received a diagnosis of ADHD, autism spectrum disorder, and fetal alcohol spectrum disorder.</p><p><strong>Results: </strong>Objective 1, a survey of 8 prominent pediatric neurology journals until January 2024, found that a title and abstract search identified 1786 articles on the three topics. Papers on autism spectrum disorder (n =1043) accounted for 58.4% of the total. Papers on ADHD (n = 685) comprised 38.4% and articles on fetal alcohol spectrum disorder (n = 58) contributed just 3.3% of the total.Objective 2, a chart review of 40 patients from a single pediatric neurology clinic who were referred for developmental assessment and management, found that 40% had prenatal alcohol exposure and 20% received a diagnosis of fetal alcohol spectrum disorder. High rates of comorbidity between fetal alcohol spectrum disorder and ADHD of 21% and of fetal alcohol spectrum disorder and autism spectrum disorder of 2.5% were found.</p><p><strong>Conclusions: </strong>Because fetal alcohol spectrum disorder is one of the most common causes of neurodevelopmental disorders, the limited attention to fetal alcohol spectrum disorder in pediatric neurology journals is concerning. This study suggests that in addition to ADHD and autism spectrum disorder, fetal alcohol spectrum disorder may also be a common diagnosis in pediatric neurology practice. Pediatric neurology journals may need to take active steps to increase content on fetal alcohol spectrum disorder. This could include editorials, invited commentaries, or topical reviews. Early recognition and diagnosis of fetal alcohol spectrum disorder allows for the implementation of specific interventions, which can improve the quality of life for patients and families.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738241303328"},"PeriodicalIF":2.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142882152","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 : 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
Exploring the Correlations Between Language Impairments, Central Auditory Processing Disorder, Neuropsychiatric Functions, and Seizure Timing in Children With Self-Limited Epilepsy With Centrotemporal Spikes. 语言障碍、中枢性听觉加工障碍、神经精神功能与癫痫发作时间的相关性研究
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
Lacosamide as an Adjunctive Therapy in the Management of Refractory Neonatal Seizures: A Retrospective Study. 拉科沙胺作为治疗难治性新生儿癫痫发作的辅助疗法:回顾性研究。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2024-12-05 DOI: 10.1177/08830738241299137
Jeetendra Prasad Sah, Pradeep Javarayee, Siddharth Jain, Samir Karia, Cemal Karakas
{"title":"Lacosamide as an Adjunctive Therapy in the Management of Refractory Neonatal Seizures: A Retrospective Study.","authors":"Jeetendra Prasad Sah, Pradeep Javarayee, Siddharth Jain, Samir Karia, Cemal Karakas","doi":"10.1177/08830738241299137","DOIUrl":"https://doi.org/10.1177/08830738241299137","url":null,"abstract":"<p><strong>Objective: </strong>Neonatal seizures present significant treatment challenges, often requiring adjunctive antiseizure medications. This study aimed to evaluate the efficacy of lacosamide as an adjunctive antiseizure medication in managing refractory neonatal seizures.</p><p><strong>Methods: </strong>The study included neonates up to 44 weeks of corrected gestational age who received lacosamide treatment at a level 4 neonatal intensive care unit between January 2015 and December 2023. The collected data encompassed demographic features, birth history, perinatal/postnatal complications, seizure characteristics, and treatment details. The primary outcome was the response to lacosamide, assessed by changes in total seizure burden on electroencephalography (EEG). The cohort characteristics were compared between nonresponders and responders.</p><p><strong>Results: </strong>The final analysis was conducted on 18 neonates with available EEG data. Of all patients, 72% showed a favorable response to lacosamide treatment, as evidenced by a reduced seizure burden on EEG. The demographic and clinical characteristics of the neonates varied, including a range of seizure etiologies. Responder and nonresponder groups had no differences in clinical characteristics.</p><p><strong>Conclusion: </strong>This study suggests that lacosamide may be an effective adjunctive antiseizure medication in treating refractory neonatal seizures. Further prospective studies are warranted to confirm these findings and explore the long-term outcomes and safety profile of lacosamide in this vulnerable patient group.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738241299137"},"PeriodicalIF":2.0,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142785822","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
Ultrarare Cause of Childhood Chorea: Celiac Disease. 儿童舞蹈病的罕见病因:乳糜泻。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2024-12-05 DOI: 10.1177/08830738241300639
Pinar Ozbudak
{"title":"Ultrarare Cause of Childhood Chorea: Celiac Disease.","authors":"Pinar Ozbudak","doi":"10.1177/08830738241300639","DOIUrl":"https://doi.org/10.1177/08830738241300639","url":null,"abstract":"<p><strong>Introduction: </strong>Chorea, a movement disorder that commonly affects children, may be caused by various diseases with metabolic, structural, pharmacologic, or autoimmune origins. Celiac disease is an autoimmune enteropathy that may rarely cause neurologic symptoms in children, primarily ataxia and peripheral neuropathy, even in the absence of gastrointestinal symptoms.</p><p><strong>Case report: </strong>A 9-year-old male patient diagnosed with Sydenham chorea was admitted to our clinic because of valproic acid resistance. He had involuntary, brief, random, and irregular movements in his arms over the past 2 weeks. A low-dose, high-potency dopamine-2 receptor-blocking agent was added to the patient's treatment regimen. After 2 weeks, he had maculopapular rashes on their hands and arms, as well as arthritis in his left hand. Oral prednisone was prescribed, and the patient's arthritis and rashes were completely resolved. Although movement disorder symptoms persisted in the distal left upper extremity, the chorea in the right upper extremity was recovered. Extensive investigations were conducted to rule out possible metabolic, autoimmune, inflammatory, infectious, and paraneoplastic diseases, all of which yielded normal results. Brain magnetic resonance imaging (MRI) results were normal, and genetic analysis results for chorea were negative. The patient's tissue glutaminase IgG levels exceeded 200 U/mL (normal range: 0-10 U/mL) and IgA levels at 24 U/mL (normal range: 0--10 U/mL), leading to a diagnosis of celiac disease. His duodenal biopsies showed changes consistent with gluten-sensitive enteropathy. After the diagnosis of celiac disease, the patient began a gluten-free diet and remained free of chorea at the 6-month follow-up.</p><p><strong>Discussion: </strong>Chorea is a rare neurologic celiac disease manifestation that can be reversible. The celiac disease should be considered in the diagnostic workup of chorea for all ages, particularly in the treatment-resistant population, even in the absence of gastrointestinal symptoms. This report presents the first known case of chorea caused by celiac disease in a pediatric patient.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738241300639"},"PeriodicalIF":2.0,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142785823","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
Decreased Incidence of Pediatric Neuro-Autoimmune Disorders During COVID-19 Pandemic Restrictions. COVID-19 大流行限制期间小儿神经-自身免疫疾病发病率降低。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2024-11-21 DOI: 10.1177/08830738241293503
Adam Jaremek, Rikki Chisvin, Stephen A Kutcher, Richard J Webster, Fatima Kazoun, Ellen B Goldbloom, Hugh J McMillan, Daniela Pohl
{"title":"Decreased Incidence of Pediatric Neuro-Autoimmune Disorders During COVID-19 Pandemic Restrictions.","authors":"Adam Jaremek, Rikki Chisvin, Stephen A Kutcher, Richard J Webster, Fatima Kazoun, Ellen B Goldbloom, Hugh J McMillan, Daniela Pohl","doi":"10.1177/08830738241293503","DOIUrl":"https://doi.org/10.1177/08830738241293503","url":null,"abstract":"<p><p>Infections are hypothesized to trigger certain autoimmune diseases; however, there is a lack of epidemiologic data surrounding pediatric neuro-autoimmune disorders during the COVID-19 pandemic. Our retrospective study assessed the incidence of pre-defined autoimmune disorders diagnosed at the Children's Hospital of Eastern Ontario in Ottawa, Canada, between October 2017 and June 2024. Inpatient and outpatient charts were queried to identify subjects with neuro-autoimmune disorders or type 1 diabetes as a nonneurologic autoimmune comparison group. Monthly incidences were calculated and compared between 3 COVID-19 pandemic restriction periods: the prerestrictions period (October 2017-March 2020), intrarestrictions period (April 2020-June 2022), and postrestrictions period (July 2022-June 2024). Poisson regression models were fit to the incidence data. New diagnoses of neuro-autoimmune disorders and type 1 diabetes were identified in 111 and 670 subjects, respectively. Incidence of neuro-autoimmune disorders, but not type 1 diabetes, decreased during the intrarestrictions period when compared to the prerestrictions period (incidence rate ratio = 0.57, 95% confidence interval 0.33-0.95, <i>P</i> < .05).</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738241293503"},"PeriodicalIF":2.0,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142686987","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
Death Causes Among Iranian Children With Leukodystrophies. 伊朗白质营养不良症儿童的死亡原因。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2024-11-18 DOI: 10.1177/08830738241293171
Mahsa Shiva, Sareh Hosseinpour, Mahmoud Reza Ashrafi, Morteza Heidari, Zahra Rezaei, Jayran Zebardast, Masoud Mohammadpour, Joshua L Bonkowsky, Ali Reza Tavasoli
{"title":"Death Causes Among Iranian Children With Leukodystrophies.","authors":"Mahsa Shiva, Sareh Hosseinpour, Mahmoud Reza Ashrafi, Morteza Heidari, Zahra Rezaei, Jayran Zebardast, Masoud Mohammadpour, Joshua L Bonkowsky, Ali Reza Tavasoli","doi":"10.1177/08830738241293171","DOIUrl":"10.1177/08830738241293171","url":null,"abstract":"<p><p><b>Introduction:</b> Leukodystrophies are a heterogeneous group of inherited neurologic disorders. These disorders are indeed progressive and debilitating conditions with limited treatment options and high mortality rates. There is a deficiency in available data concerning both the mortality rates and the most common causes of death in leukodystrophies. <b>Methods:</b> We investigated the mortality rates, mean age at death, and the most common causes of death in a retrospective cohort of 165 Iranian pediatric patients who were diagnosed with leukodystrophies. <b>Results:</b> Death was recorded in 64 of 165 patients (38.8%) with a mean follow-up of 4.7 ± 3.25 years. The mean age of living patients was 7.9 ± 4.8 years and the mean age at death was 5.2 ± 3.9 years. Mortality rate of the entire cohort was 18.1% (30/165), 24.2% (40/165), and 35.7% (59/165) at 3, 5, and 10 years' follow-up, respectively. The mean age at death was 2.13 ± 0.68 years, 2.67 ± 1.14 years, and 4.33 ± 2.73 years, at 3-, 5-, and 10-year follow-up from first symptom onset, correspondingly. However, there was a significant difference in the mean age at death in years in hypomyelinating leukodystrophies compared with other leukodystrophies (2.19 <b>± </b>0.19 standard error [SE], confidence interval [CI] 1.81-2.56; and 6.65 ± 0.62 SE (CI 5.42-7.87); log rank <i>P</i> = .0001, analysis of variance <i>P</i> = .0001). The most common causes of death were cardiopulmonary problems (47%), seizures (11%), sepsis (9%), and miscellaneous (33%). <b>Conclusions:</b> We proposed that a significant majority of childhood leukodystrophy deaths occur within the first 5 years of life, with a notable concentration during the initial 3 years. Further, the results of this study suggest the potential for targeted strategies to address the specific causes of death in children with leukodystrophies.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738241293171"},"PeriodicalIF":2.0,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142667623","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
Clinical Impact and Safety Profile of Intravenous Lacosamide Administration as Adjunctive Therapy for Neonatal Seizures. 静脉注射拉科酰胺作为新生儿癫痫发作辅助疗法的临床影响和安全性简介
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2024-11-14 DOI: 10.1177/08830738241296177
C Cortes-Ledesma, E Arias-Vivas, G Ruiz-Ocaña de Las Cuevas, E Santana-Cabrera, A Garcia-Ron
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