Journal of Child Neurology最新文献

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The Ketogenic Diet: An Underrecognized Therapy for Rett Syndrome. 生酮饮食:一种未被充分认识的治疗Rett综合征的方法。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-04-10 DOI: 10.1177/08830738251329139
Babitha Haridas, Stacey Bessone, Zahava Turner, Eric Kossoff
{"title":"The Ketogenic Diet: An Underrecognized Therapy for Rett Syndrome.","authors":"Babitha Haridas, Stacey Bessone, Zahava Turner, Eric Kossoff","doi":"10.1177/08830738251329139","DOIUrl":"https://doi.org/10.1177/08830738251329139","url":null,"abstract":"<p><p>Rett syndrome is an X-linked dominant neurodevelopmental disorder characterized by cognitive and communicative regression, stereotypies and loss of hand use. Epilepsy is present in 50% to 90% with approximately one-third having refractory epilepsy. The ketogenic diet has been used as an antiseizure therapy for more than a century; however, there is limited data on its use in Rett syndrome. In this retrospective single-center case series, we present 9 children with Rett syndrome who were placed on ketogenic diet. There was ≥50% improvement in seizure frequency in 67% (6/9) and 44% (4/9) at 6 and 12 months, respectively. Patients with ≥50% seizure reduction had an improvement in cognition and alertness. All 9 had a gastrostomy tube, with 8 starting ketogenic diet with a ketogenic formula and 1 with a food-based diet. The ketogenic diet is well tolerated and has high efficacy for seizures associated with Rett syndrome with two-thirds reporting significant seizure reduction. The presence of a gastrostomy tube can help the initiation and titration of ketogenic diet.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251329139"},"PeriodicalIF":2.0,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143993883","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
Assessment and Outcomes of Pediatric Optic Neuritis in a Tertiary Children's Hospital in the United Kingdom: A 10-Year Retrospective Review. 英国一家三级儿童医院儿童视神经炎的评估和结果:一项10年回顾性回顾。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-04-10 DOI: 10.1177/08830738251326959
Haider Shah, Hannah McNamee, Navid Hakim, Jose Gonzalez-Martin
{"title":"Assessment and Outcomes of Pediatric Optic Neuritis in a Tertiary Children's Hospital in the United Kingdom: A 10-Year Retrospective Review.","authors":"Haider Shah, Hannah McNamee, Navid Hakim, Jose Gonzalez-Martin","doi":"10.1177/08830738251326959","DOIUrl":"https://doi.org/10.1177/08830738251326959","url":null,"abstract":"<p><p>AimTo define the clinical presentations, visual outcomes, and treatment practices for pediatric optic neuritis at a tertiary children's hospital in the United Kingdom.MethodsA retrospective review was conducted for patients aged 0-16 years diagnosed with optic neuritis over a 10-year period. Demographic and clinical data were retrieved from electronic and archived medical records. Follow-up assessments were completed at intervals of 2 weeks, 3 months, 6 months, 1 year, and 3 years, with a minimum follow-up of 2 weeks.ResultsSixteen patients experienced their first optic neuritis episode, with 81% presenting unilaterally and 19% bilaterally. All patients reported visual loss or blurring; headache, eye pain, and dizziness were also common. Poor visual acuity (>0.3 logMAR) was noted in 78% of eyes at presentation. Relative afferent pupillary defects were observed in 85% of unilateral cases, and initial color vision deficits were present in 64%. Disc swelling affected 46% of unilateral cases. Treatments varied, with all bilateral cases receiving intravenous methylprednisolone followed by oral steroids; 62% of unilateral cases received similar treatment. No optic neuritis recurrences were noted within the study period. Final visual outcomes did not significantly differ across myelin-oligodendrocyte glycoprotein-positive, multiple sclerosis-associated, and isolated pediatric optic neuritis groups.ConclusionPatients with pediatric optic neuritis present with initial poor visual acuity, from which the majority substantially improve within 3 months, though significant further recovery may occur up to 1 year post-presentation. Myelin-oligodendrocyte glycoprotein-positive disease appears to be a significant cause of pediatric optic neuritis. Treatment practices show significant variability; however, the trend for intravenous corticosteroid use continues to predominate.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251326959"},"PeriodicalIF":2.0,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144004686","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
Hemiplegic Cerebral Palsy: Clinical Features Associated With Arterial Ischemic Stroke or Periventricular Venous Infarction. 偏瘫性脑瘫:与动脉缺血性脑卒中或心室周围静脉梗死相关的临床特征。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-04-10 DOI: 10.1177/08830738251327615
Trish Domi, Darcy Fehlings, Pradeep Krishnan, Manohar Shroff, Matylda Machnowska, Amanda Robertson, Nomazulu Dlamini, Gabrielle deVeber
{"title":"Hemiplegic Cerebral Palsy: Clinical Features Associated With Arterial Ischemic Stroke or Periventricular Venous Infarction.","authors":"Trish Domi, Darcy Fehlings, Pradeep Krishnan, Manohar Shroff, Matylda Machnowska, Amanda Robertson, Nomazulu Dlamini, Gabrielle deVeber","doi":"10.1177/08830738251327615","DOIUrl":"https://doi.org/10.1177/08830738251327615","url":null,"abstract":"<p><p>ObjectiveWe sought to determine the clinical features of hemiplegic cerebral palsy associated with perinatal arterial ischemic stroke or periventricular venous infarction.MethodsWe studied children with hemiplegic cerebral palsy enrolled at 9 rehabilitation centers across Ontario. We compared children with underlying perinatal arterial ischemic stroke or periventricular venous infarction on clinically acquired brain imaging. Analysis also included prenatal (maternal, prenatal/gestational) and perinatal (obstetrical, neonatal) clinical features collected from birth records and standardized parent interviews.ResultsThe 144 children with hemiplegic cerebral palsy (62% male) included 95 with perinatal arterial ischemic stroke and 49 with periventricular venous infarction. In this cohort of children with hemiplegic cerebral palsy, we found neonatal systemic thrombosis (ie, blood clots in the body) (<i>P</i> = .05), emergency cesarean section (<i>P</i> = .05), and neonatal seizures (<i>P</i> = .01) to be clinical features associated with hemiplegic cerebral palsy in children with perinatal arterial ischemic stroke more often than periventricular venous infarction. Preterm delivery rates were similar for perinatal arterial ischemic stroke and periventricular venous infarction.ConclusionWe determined clinical features associated with the 2 most typical forms of focal ischemic brain injury in children with hemiplegic cerebral palsy, including mode of delivery emergency cesarean section, neonatal seizures and systemic thrombosis. These findings provide further insight and support for existing findings about focal brain injury patterns leading to hemiplegic cerebral palsy in children.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251327615"},"PeriodicalIF":2.0,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143998995","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
Unusual Phenotypic Variability in Paroxysmal Dystonia Associated with Rare ATP1A3 Mutation: A Case Report and Review. 与罕见的ATP1A3突变相关的阵发性肌张力障碍的异常表型变异:一个病例报告和回顾。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-04-10 DOI: 10.1177/08830738251327707
Martyna A Czylok, Milena Prokopiuk, Katarzyna Meller, Marta Zawadzka, Maria Mazurkiewicz-Bełdzińska
{"title":"Unusual Phenotypic Variability in Paroxysmal Dystonia Associated with Rare <i>ATP1A3</i> Mutation: A Case Report and Review.","authors":"Martyna A Czylok, Milena Prokopiuk, Katarzyna Meller, Marta Zawadzka, Maria Mazurkiewicz-Bełdzińska","doi":"10.1177/08830738251327707","DOIUrl":"https://doi.org/10.1177/08830738251327707","url":null,"abstract":"<p><p>Paroxysmal dyskinesias, marked by sudden involuntary movements, poses diagnostic challenges because of its heterogeneous nature and overlap with other movement disorders. Genetic factors, especially variants in the <i>ATP1A3</i> gene, have been linked to various neurologic conditions, including paroxysmal dystonia. We report a 5-year-old patient with a rare <i>ATP1A3</i> gene variant (c.2309T>G, p.(Leu770Arg)), previously documented in only 1 other patient. Unlike the earlier report, the patient presented distinct clinical features, with a focus on dystonia rather than hemiplegia and no intellectual impairment. This phenotypic variability highlights the challenges in diagnosis and treatment. We discuss differential diagnoses, including Alternating Hemiplegia of Childhood, and emphasize the need for comprehensive genetic testing and multidisciplinary care. Our study advocates for further research to better understand the spectrum of <i>ATP1A3</i>-related disorders and enhance diagnostic accuracy and patient management in paroxysmal dystonia.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251327707"},"PeriodicalIF":2.0,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144012323","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
Investigating Quality of Life and Adaptive Functioning in Patients With SCN8A-Related Epilepsy. 研究scn8a相关性癫痫患者的生活质量和适应性功能。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-04-10 DOI: 10.1177/08830738251328397
Vivien X Xie, Madison M Berl, Zachary Kramer, John M Schreiber
{"title":"Investigating Quality of Life and Adaptive Functioning in Patients With <i>SCN8A</i>-Related Epilepsy.","authors":"Vivien X Xie, Madison M Berl, Zachary Kramer, John M Schreiber","doi":"10.1177/08830738251328397","DOIUrl":"https://doi.org/10.1177/08830738251328397","url":null,"abstract":"<p><p><i>SCN8A</i>-related epilepsy is associated with a spectrum of seizure and neurodevelopmental phenotypes; however, there is limited information regarding nonseizure outcomes. We performed a cross-sectional study investigating quality of life (QoL) and adaptive functioning in this population utilizing the Quality of Life Inventory-Disability (QI-Disability) survey and Vineland Adaptive Behavior Scales (VABS). Nineteen patients with <i>SCN8A</i> pathogenic variants were included. There was a significant difference in QI-Disability and VABS scores between clinical epilepsy phenotypes. Greater seizure frequency and number of antiseizure medications were both associated with lower VABS and QI-Disability total scores, but number of antiseizure medications was associated with more QoL domains than seizure frequency. QI-Disability scores were positively associated with adaptive functioning except for the QoL domain of Negative Emotions. This study is the first to characterize the spectrum of QoL and adaptive functioning in the <i>SCN8A-</i>related disorder population and investigate their relationships to each other and to seizure outcomes. Both the QI-Disability and VABS show promise as potential clinical outcome assessments in future <i>SCN8A</i>-related disorder cohorts.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251328397"},"PeriodicalIF":2.0,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144002555","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 Current State of Research on Postoperative Cerebellar Mutism Syndrome: A Bibliometric Analysis. 术后小脑性缄默症的研究现状:文献计量学分析。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-04-10 DOI: 10.1177/08830738251328435
Tannishtha Som, Aanya Ravichander, Eeshan Khurana, Purvee Panchmatia, Jeffrey Kornitzer, Catherine Mazzola
{"title":"The Current State of Research on Postoperative Cerebellar Mutism Syndrome: A Bibliometric Analysis.","authors":"Tannishtha Som, Aanya Ravichander, Eeshan Khurana, Purvee Panchmatia, Jeffrey Kornitzer, Catherine Mazzola","doi":"10.1177/08830738251328435","DOIUrl":"https://doi.org/10.1177/08830738251328435","url":null,"abstract":"<p><p>This study presents a bibliometric analysis of cerebellar mutism syndrome (CMS), a severe postoperative complication in pediatric patients with posterior fossa tumors. A total of 445 publications were included in the study from a Web of Science query done on October 18, 2024. Publication output has steadily increased with research concentrated in developed nations, particularly the United States, which leads in publications and citations. Since 2020, developing nations in Africa, Latin America, and Asia have started to contribute more. The United Kingdom leads in collaboration. St Jude Children's Research Hospital is the top contributor. Regional collaboration is notable in Nordic institutions, Benelux institutions, and Italian institutions. International collaborations with institutions from developing nations, although still low, are increasing. <i>Child's Nervous System</i> is the leading journal. Recent keyword trends focus on surgical techniques, imaging modalities, and long-term outcomes. This bibliometric analysis provides an overview of CMS research, identifying key trends, collaborations, and gaps in the field.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251328435"},"PeriodicalIF":2.0,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143993881","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
Christianson Syndrome Family Experiences: Results From Caregiver Interviews. 克里斯蒂安森综合症的家庭经历:来自照顾者访谈的结果。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-04-02 DOI: 10.1177/08830738251327619
Danielle G St Pierre, Carrie R Best, Jennifer Elacio, Naomi Kissel, Eric M Morrow
{"title":"Christianson Syndrome Family Experiences: Results From Caregiver Interviews.","authors":"Danielle G St Pierre, Carrie R Best, Jennifer Elacio, Naomi Kissel, Eric M Morrow","doi":"10.1177/08830738251327619","DOIUrl":"https://doi.org/10.1177/08830738251327619","url":null,"abstract":"<p><p><b>Background:</b> Christianson syndrome is a rare X-linked disorder characterized by intellectual and developmental disability, epilepsy, and regressions, requiring lifelong care. This study explored family experiences and treatment priorities from the caregiver perspectives. <b>Methods:</b> Qualitative semistructured interviews were conducted with 18 caregivers of 20 patients (aged 4-29 years) to discuss symptom onset, diagnosis, progression, coping, and priorities. Transcripts were thematically analyzed. <b>Results:</b> Initial symptoms included seizures, delayed developmental milestones, and lack of speech. Caregivers described sadness, anger, and feeling overwhelmed after diagnosis. Concerns included seizures, communication challenges, and sleep disruptions. Only half reported robust support networks. Coping strategies included exercise, work, and partner support. Despite challenges, caregivers highlighted the happy, affectionate demeanors of the children. Caregivers emphasized connecting with other families and prioritized treatments for seizures, communication, and preventing regressions. <b>Conclusions:</b> These findings reflect caregiver experiences, enhance knowledge of Christianson syndrome impacts, and highlight common challenges for families managing disabilities.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251327619"},"PeriodicalIF":2.0,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143764100","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 : 2025-04-01 Epub 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":"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":"241-248"},"PeriodicalIF":2.0,"publicationDate":"2025-04-01","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
Unveiling Pediatric Neurosarcoidosis Mimicking Central Nervous System Tuberculosis: Diagnostic Challenges. 揭示小儿神经结节病模拟中枢神经系统结核:诊断挑战。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-04-01 Epub Date: 2025-01-12 DOI: 10.1177/08830738241304167
Mohammad Raza, Isbaah Tejani, Shahnaz Ibrahim
{"title":"Unveiling Pediatric Neurosarcoidosis Mimicking Central Nervous System Tuberculosis: Diagnostic Challenges.","authors":"Mohammad Raza, Isbaah Tejani, Shahnaz Ibrahim","doi":"10.1177/08830738241304167","DOIUrl":"10.1177/08830738241304167","url":null,"abstract":"<p><p>Neurosarcoidosis is a rare chronic inflammatory disease affecting the nervous system. Owing to its varying manifestations that can mimic other central nervous system infectious or autoimmune diseases, and scarcity of literature, it proves to be a challenging diagnosis. We report two cases of possible neurosarcoidosis in the pediatric age group. Our first patient presented to us with seizures at the age of 13 years, whereas our second patient presented with headaches and vomiting at the age of 10 years. Both patients had elevated cerebrospinal fluid protein levels and leptomeningeal enhancement on magnetic resonance imaging (MRI); however, one patient also had a pituitary lesion. Tests for tuberculosis were negative for both. One of the 2 patients exhibited normal angiotensin-converting enzyme levels at the start of symptoms but later showed raised angiotensin-converting enzyme levels. His diagnosis was delayed as he was treated initially for central nervous system infections. His disease course showed frequent relapses with varying clinical symptoms. After trying steroids and different immunosuppressive agents, he was given a rituximab infusion, and he went into remission. Our cases contribute to the literature for addressing diagnostic and management challenges in children with neurosarcoidosis.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"305-311"},"PeriodicalIF":2.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142971034","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 : 2025-04-01 Epub 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":"233-240"},"PeriodicalIF":2.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12003068/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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