Journal of Child Neurology最新文献_第8页

Glycopyrrolate for Drooling in Children With Neurodisability: Multicenter Study. 甘罗替酯治疗神经功能障碍儿童流口水：多中心研究。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-04-15 DOI: 10.1177/08830738251330414

Pinar Ozbudak, Habibe Koc Ucar, Leman Tekin Orgun, Kivilcim Gucuyener

{"title":"Glycopyrrolate for Drooling in Children With Neurodisability: Multicenter Study.","authors":"Pinar Ozbudak, Habibe Koc Ucar, Leman Tekin Orgun, Kivilcim Gucuyener","doi":"10.1177/08830738251330414","DOIUrl":"https://doi.org/10.1177/08830738251330414","url":null,"abstract":"ObjectiveThis multicenter study aimed to evaluate the efficacy and safety of oral glycopyrrolate in children with neurodisabilities experiencing moderate-to-severe drooling.MethodsA total of 159 children diagnosed with cerebral palsy, epileptic encephalopathy, or autism spectrum disorder were assessed using the Drooling Impact Scale, Drooling Severity and Frequency Scale, and quality of life measures at baseline, week 4, and week 12. A structured dose titration protocol was followed, and adverse events were systematically recorded.ResultsOf the 159 children enrolled, 130 completed the study. Significant improvements were observed in Drooling Impact Scale, Drooling Severity and Frequency Scale, and quality of life scores across all groups (P < .001). Cerebral palsy patients exhibited greater variability in Drooling Impact Scale scores than epileptic encephalopathy and autism spectrum disorder groups at weeks 4 and 12 (P < .01). Adverse effects were predominantly mild, with constipation being the most common.ConclusionGlycopyrrolate is an effective and well-tolerated treatment for drooling in children with neurodisabilities, including autism spectrum disorder and epileptic encephalopathy. It presents a viable pharmacologic option for improving salivary control and quality of life.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251330414"},"PeriodicalIF":2.0,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143987030","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

Evaluation of Neighborhood Resources and Pediatric Status Epilepticus Outcomes in the Intensive Care Unit Across the United States. 美国重症监护病房邻里资源和儿童癫痫持续状态结局的评估。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-04-15 DOI: 10.1177/08830738251330407

Kara H Garrett, Jonathan M Gabbay, Michael D Fishman, Benjamin V M Bajaj, Robert J Graham, Jennifer M Perez

{"title":"Evaluation of Neighborhood Resources and Pediatric Status Epilepticus Outcomes in the Intensive Care Unit Across the United States.","authors":"Kara H Garrett, Jonathan M Gabbay, Michael D Fishman, Benjamin V M Bajaj, Robert J Graham, Jennifer M Perez","doi":"10.1177/08830738251330407","DOIUrl":"https://doi.org/10.1177/08830738251330407","url":null,"abstract":"This study aimed to investigate outcomes for children with underlying epilepsy admitted to an intensive care unit for status epilepticus in relation to Child Opportunity Index. Data were obtained from the Pediatric Health Information System for patients aged 1 month to 21 years admitted to the intensive care unit for a primary diagnosis of epilepsy with status epilepticus. Mixed effects regression models were used to estimate the association between Child Opportunity Index and our outcomes: invasive mechanical ventilation, vasoactive medication administration, and in-hospital mortality. Encounters with very low, low, and moderate Child Opportunity Index levels were more likely to receive invasive mechanical ventilation compared to very high Child Opportunity Index level, though there were no differences for vasoactive medication administration or in-hospital mortality. This demonstration of neighborhood disparities specifically for children with epilepsy presenting in status epilepticus to an intensive care unit should inform future interventions aimed at improving neighborhood resources.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251330407"},"PeriodicalIF":2.0,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143987028","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 Psychiatric Manifestations of Sturge Weber Syndrome: A Scoping Review. 斯特格·韦伯综合征的精神病学表现：范围综述。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-04-15 DOI: 10.1177/08830738251329444

Veronica Lee, Ragy R Girgis

{"title":"The Psychiatric Manifestations of Sturge Weber Syndrome: A Scoping Review.","authors":"Veronica Lee, Ragy R Girgis","doi":"10.1177/08830738251329444","DOIUrl":"https://doi.org/10.1177/08830738251329444","url":null,"abstract":"Sturge-Weber syndrome is a neurocutaneous disorder characterized by leptomeningeal angiomas and facial port-wine stains. Although clinical features such as seizures and glaucoma are well-documented, psychiatric manifestations remain underexplored. This scoping review examines the extant literature to characterize the prevalence, associated comorbidities, contributing factors, and treatment approaches for psychiatric symptoms and disorders in individuals with Sturge-Weber syndrome. Despite variable prevalence rates, individuals with Sturge-Weber syndrome are at elevated risk for psychiatric issues, particularly depression. Anxiety, autism spectrum disorders, psychotic symptoms, and attention-deficit hyperactivity disorder (ADHD) are also frequently identified as significant concerns for individuals with Sturge-Weber syndrome. These observations underscore the importance of recognizing psychiatric vulnerabilities in Sturge-Weber syndrome and integrating mental health evaluation into clinical care. Implications for treatment are discussed. Future, rigorously designed research studies with larger sample sizes are essential to better delineate the prevalence and impact of psychiatric disorders in this population.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251329444"},"PeriodicalIF":2.0,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144011889","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 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

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":"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) (P = .05), emergency cesarean section (P = .05), and neonatal seizures (P = .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.","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 ATP1A3 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":"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 ATP1A3 gene, have been linked to various neurologic conditions, including paroxysmal dystonia. We report a 5-year-old patient with a rare ATP1A3 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 ATP1A3-related disorders and enhance diagnostic accuracy and patient management in paroxysmal dystonia.","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 SCN8A-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":"SCN8A-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 SCN8A 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 SCN8A-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 SCN8A-related disorder cohorts.","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":"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. Child's Nervous System 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.","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":"Background: 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. Methods: 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. Results: 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. Conclusions: These findings reflect caregiver experiences, enhance knowledge of Christianson syndrome impacts, and highlight common challenges for families managing disabilities.","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":"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, P < .05).","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