Journal of Child Neurology最新文献_第4页

Trofinetide-Induced Enterocolitis Syndrome in a Child with Rett Syndrome. 特罗菲肽诱发的Rett综合征患儿肠结肠炎综合征。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-01 Epub Date: 2025-12-22 DOI: 10.1177/08830738251404099

Stephen G Jones, John Alberty, Matthew Bell

{"title":"Trofinetide-Induced Enterocolitis Syndrome in a Child with Rett Syndrome.","authors":"Stephen G Jones, John Alberty, Matthew Bell","doi":"10.1177/08830738251404099","DOIUrl":"10.1177/08830738251404099","url":null,"abstract":"Trofinetide, a synthetic analog of glycine-proline-glutamate (GPE), is the first food and drug administration-approved treatment for Rett syndrome. Gastrointestinal side effects (primarily diarrhea) are common, but severe immune-mediated reactions have not been described. We report a case of a young girl with genetically confirmed Rett syndrome who developed emesis, pallor, and lethargy after 2 months of treatment with trofinetide. An attempt was made to restart the medication after being held for a week, but the patient again experienced adverse symptoms and the drug was held. After 3 months without the medication, she experienced recurrence of initial symptoms within hours of rechallenge, consistent with food protein-induced enterocolitis syndrome (FPIES). The medication was not continued after the re-challenge. The concept of drug-induced enterocolitis syndrome (DIES) has been reported with other agents; however, to our knowledge, this represents the first reported case of FPIES/DIES triggered by trofinetide. This case expands the spectrum of trofinetide-related adverse reactions and emphasizes the need to distinguish immune-mediated enterocolitis from dose-dependent osmotic diarrhea and highlights the importance of clinician vigilance when initiating similar therapies in children with complex neurodevelopmental disorders.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1190-1192"},"PeriodicalIF":1.6,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145809345","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

Identification of BAP1 Germline Mutation in a Pediatric Patient With Skull Base Meningioma. 儿童颅底脑膜瘤患者BAP1种系突变的鉴定。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-01 Epub Date: 2025-12-24 DOI: 10.1177/08830738251398572

Khadija Jadun, Harry Lesmana, Pablo F Recinos, Lauren Bokovitz, Patrick Byrne, Doksu Moon, Richard Prayson, Stacey Zahler, Allison Fischer, Neha J Patel

{"title":"Identification of BAP1 Germline Mutation in a Pediatric Patient With Skull Base Meningioma.","authors":"Khadija Jadun, Harry Lesmana, Pablo F Recinos, Lauren Bokovitz, Patrick Byrne, Doksu Moon, Richard Prayson, Stacey Zahler, Allison Fischer, Neha J Patel","doi":"10.1177/08830738251398572","DOIUrl":"10.1177/08830738251398572","url":null,"abstract":"Genetic testing based on family history and tumor type may miss numerous germline mutations. This case report describes an adolescent girl with a rare skull-base meningioma. Initial imaging suggested schwannoma but germline genetic testing with schwannomatosis panel (NF2, LZTR1, and SMARCB1) was negative. A stepwise surgical approach prioritized facial nerve preservation, followed by tumor removal. Histopathology identified the tumor as a meningothelial meningioma, WHO grade 1, rather than the initially suspected schwannoma. Comprehensive tumor-normal sequencing revealed a germline splice site variant in BAP1 (c.122G+1 G>T) and a tier 2 somatic variant in PBMR1 (c.3263_3269delinsA). This case highlights the value of combined somatic and germline genomic evaluations in complex diagnoses. Identifying the BAP1 mutation enabled preventive care, genetic testing for relatives, and tailored cancer screening. It underscores the need for thorough genomic assessments and multidisciplinary strategies to optimize outcomes in rare pediatric conditions.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1197-1201"},"PeriodicalIF":1.6,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145827688","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

Fine Motor Development Growth Curves for Down Syndrome. 唐氏综合症的精细运动发育生长曲线。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-01 Epub Date: 2025-12-12 DOI: 10.1177/08830738251387929

Mandie Wiebers Jensen, Margaret Wolf, Alicia Feryn, Thuan Nguyen, Isabel Katlaps, Joseph D Pinter

引用次数: 0

Implications of Amplitude-Integrated Electroencephalography Monitoring for Effective Treatment of Chronic Ventilated Children During the Rehabilitation Period. 波幅综合脑电图监测对慢性通气患儿康复期有效治疗的意义。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-01 Epub Date: 2025-12-09 DOI: 10.1177/08830738251398585

Keren Politi, Kfir Givony, Nitay Fraenkel, Patrice L Weiss, Amihai Rigbi, Daniel Bancovsky, Tally Lerman-Sagie

{"title":"Implications of Amplitude-Integrated Electroencephalography Monitoring for Effective Treatment of Chronic Ventilated Children During the Rehabilitation Period.","authors":"Keren Politi, Kfir Givony, Nitay Fraenkel, Patrice L Weiss, Amihai Rigbi, Daniel Bancovsky, Tally Lerman-Sagie","doi":"10.1177/08830738251398585","DOIUrl":"10.1177/08830738251398585","url":null,"abstract":"AimAmplitude-integrated electroencephalography (aEEG) is a method for continuous electrographic brain function monitoring. Despite evidence of aEEG relevancy in a range of clinical settings, its use has not yet been systematically tested in patients with chronic ventilation. We assessed the role of aEEG in the management of patients in a department of pediatric respiratory rehabilitation.MethodTwo hundred ninety aEEG readings from 116 patients over a period of 36 months were studied. aEEGs were performed on admission for all patients; 21 patients had repeated monitoring because of suspected seizures.ResultsMore than 92% of the patients had examinations that were feasible for interpretation. Seizures were noted in 29% of the aEEG readings at admission. A significant correlation was found between abnormal background activity and the presence of seizures. The aEEG obtained throughout hospitalization led to modification of treatment in 49% of patients including initiation of antiseizure medications in 20% of patients, avoidance of unnecessary treatment in 20% of patients, and transfer for advanced assessment in the primary hospital in 9% of patients.ConclusionThe results of this study reinforce the importance of using aEEG in chronically ventilated patients throughout rehabilitation. It is an important tool for accurate treatment and planning of the personal rehabilitation program.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1099-1106"},"PeriodicalIF":1.6,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145708102","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 Response and Tolerability of Brivaracetam in Pediatric Epilepsy: A Systematic Review and Meta-analysis. 布瓦西坦治疗小儿癫痫的临床反应和耐受性：一项系统综述和荟萃分析。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-01 DOI: 10.1177/08830738261474048

Uneeb Ullah Khan, Mohammad Saboor Kamran, Muhammad Ansab, Ali Irtiza Talpur, Ayman Shakeel Ahmed, Ghadeer Mohammed Abbas, Syeda Zahra Hasan, Phan Huu Hung, Syed Hashim Ali Inam, Jabez David John, S M Washaqul Arfin

{"title":"Clinical Response and Tolerability of Brivaracetam in Pediatric Epilepsy: A Systematic Review and Meta-analysis.","authors":"Uneeb Ullah Khan, Mohammad Saboor Kamran, Muhammad Ansab, Ali Irtiza Talpur, Ayman Shakeel Ahmed, Ghadeer Mohammed Abbas, Syeda Zahra Hasan, Phan Huu Hung, Syed Hashim Ali Inam, Jabez David John, S M Washaqul Arfin","doi":"10.1177/08830738261474048","DOIUrl":"https://doi.org/10.1177/08830738261474048","url":null,"abstract":"This systematic review and meta-analysis aims to synthesize evidence on the safety and efficacy of brivaracetam (BRV) usage in pediatric epilepsy. The primary outcome of our study was to assess the endurability of BRV in a population of children (age ≤18 years) with epilepsy, which was measured by the retention rate. The responder rate, rate of seizure freedom, rate of adverse effects, and rate of withdrawal from the study were all taken as secondary outcomes, with a total number of 12 citations included in our meta-analysis. Pooled estimation gave us a retention rate of 66%, a responder rate of 35%, and a pooled seizure freedom rate of 13%. When analyzing adverse events data, 25% of patients experienced treatment emergent adverse events, whereas 9% experienced behavioral adverse events. This study reports that BRV is safe and effective in a pediatric population. These findings warrant the necessity for further studies in BRV effectiveness, with specificity toward different classifications of epilepsy, ideal dosages for beneficence, and larger trials.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738261474048"},"PeriodicalIF":1.6,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148874313","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

Letter to Editor: The Feasibility and Acceptability of a Headache Self-Management Education Program for Adolescents. 致编辑：青少年头痛自我管理教育项目的可行性和可接受性。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-01 Epub Date: 2026-04-03 DOI: 10.1177/08830738261436130

Aradhana Chhabra, Riya Kalra, Kanu Goyal

引用次数: 0

Screen Time and Meeting Daily Health Recommendations in Children With and Without Autism. 自闭症儿童和非自闭症儿童的屏幕时间和每日健康建议

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-01 Epub Date: 2025-12-08 DOI: 10.1177/08830738251392088

Mollie Lobl, Ellen J Silver, Elisa Muñiz, Blanche Benenson, Maria Valicenti-McDermott, Ruth Ek Stein

{"title":"Screen Time and Meeting Daily Health Recommendations in Children With and Without Autism.","authors":"Mollie Lobl, Ellen J Silver, Elisa Muñiz, Blanche Benenson, Maria Valicenti-McDermott, Ruth Ek Stein","doi":"10.1177/08830738251392088","DOIUrl":"10.1177/08830738251392088","url":null,"abstract":"ObjectiveTo describe daily recreational screen time of 6-17-year-old children with and without autism and association of >2 hours screen time per day with the likelihood of meeting Centers for Disease Control and Prevention (CDC) recommendations of 1 hour/day physical activity, sleep 9-12 hours/night for ages 6-12 years, 8-10 hours/night for ages 13-17 years, and body mass index (BMI) <85%ile.MethodsSecondary analysis of 2020 National Survey of Children's Health. Children were divided into 2 groups: autism and neurotypical. Parents reported 6-17-year-old children's weekday recreational screen time, physical activity, sleep duration, weight, and height. Variables were dichotomized: screen time ≤2 hours / screen time >2 hours and met / did not meet each CDC recommendation. Descriptive statistics, χ2, and logistic regression were used. Data were weighted and adjusted for complex sampling.ResultsAmong 1030 children with autism and 24 205 neurotypical children aged ≥6 years, 68.6% vs 56.5% respectively had >2 hours of daily screen time (P = .001). More 6-12-year-olds with autism viewed >2 hours screen time daily (62.9% vs 48.0%, P < .001), but adolescents in the 2 groups did not differ. Those with autism and >2 hours screen time/weekday less often met CDC daily physical activity recommendation (16.2% vs 29.8%, P = .004), but this relationship held only among adolescents (11.0% vs 27.8%, P = .009). Among those 6-12 years old, with autism, screen time >2 hours/day was associated with a lower percentage with BMI ≥85%ile (22.2% vs 43.9%, P = .035). The autism group had no significant differences in sleep duration. In contrast, screen time >2 hours/day is associated with not meeting any of the guidelines among neurotypical children.ConclusionThese findings may have implications for counseling on realistic screen time habits.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1092-1098"},"PeriodicalIF":1.6,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145708120","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

Sleep and Fatigue in Children and Adolescents With Multiple Sclerosis. 儿童和青少年多发性硬化症患者的睡眠和疲劳。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-01 Epub Date: 2025-12-22 DOI: 10.1177/08830738251396170

Jessica Tran, Anne-Marie Adams, Jackie L Said, Andrew J Kornberg, Moya Vandeleur, Eppie M Yiu

{"title":"Sleep and Fatigue in Children and Adolescents With Multiple Sclerosis.","authors":"Jessica Tran, Anne-Marie Adams, Jackie L Said, Andrew J Kornberg, Moya Vandeleur, Eppie M Yiu","doi":"10.1177/08830738251396170","DOIUrl":"10.1177/08830738251396170","url":null,"abstract":"Fatigue is common in children with multiple sclerosis. This cross-sectional study aimed to determine the prevalence of fatigue, sleep disorders, and subjective sleep quality in children with multiple sclerosis, along with their relationships to mood, quality of life, physical activity, and multiple sclerosis disease characteristics. Validated questionnaires were completed, and objective sleep quality was evaluated with polysomnography. Of the 18 children recruited (median age 16.0 years), 72% reported fatigue and 61% experienced subjective sleep disturbance. Fourteen sleep studies were completed, from which 3 children (21%) were diagnosed with sleep disorders: 2 with periodic limb movement disorder and 1 with mild obstructive sleep apnea. Sleep architecture was fragmented in 13 children (93%). Fatigue correlated with subjective sleep disturbance measures. This study demonstrates an increased frequency of subjective and objective sleep disturbance in children with multiple sclerosis. Polysomnography should be considered in children with multiple sclerosis who report fatigue and subjective sleep disturbance.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1132-1140"},"PeriodicalIF":1.6,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145810426","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

Associations of Symptomatic Head Trauma/Concussion Diagnosis with Sleep-Related Outcomes in Children. 症状性头部创伤/脑震荡诊断与儿童睡眠相关结局的关系

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-01 Epub Date: 2026-01-05 DOI: 10.1177/08830738251409578

Priyanka Ramulu, Andrea Lc Schneider, Marjorie E Soltis, Varshini Varadaraj

{"title":"Associations of Symptomatic Head Trauma/Concussion Diagnosis with Sleep-Related Outcomes in Children.","authors":"Priyanka Ramulu, Andrea Lc Schneider, Marjorie E Soltis, Varshini Varadaraj","doi":"10.1177/08830738251409578","DOIUrl":"10.1177/08830738251409578","url":null,"abstract":"IntroductionUsing National Health Interview Survey (NHIS) data from 2020 to 2022, we examined associations between a history of symptomatic head trauma/concussion diagnosis with sleep-related outcomes.MethodsGuardians of children aged 2-17 years answered survey questions indicating whether US children had prior symptomatic head trauma and/or a concussion diagnosis. Associations with symptomatic head trauma/concussion diagnosis and sleep outcomes were determined in logistic regression models adjusting for age, sex, race, region, insurance coverage, parental education, and income-poverty ratio.ResultsCompared to children without symptomatic head trauma/concussion diagnosis, children with symptomatic head trauma/concussion diagnosis were more likely to report any frequency of not feeling well-rested (OR 1.63, 95% CI 1.34-1.99), difficulty getting out of bed (OR 1.56, 95% CI 1.30-1.86), daytime fatigue (OR 1.85, 95% CI 1.55-2.22), and daytime napping (OR 1.37, 95% CI 1.13-1.65).ConclusionThis nationally representative sample found United States children with prior symptomatic head trauma/concussion diagnosis were more likely to experience several sleep difficulties.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1141-1151"},"PeriodicalIF":1.6,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145906049","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

Nonketotic Hyperglycinemia in Central and Appalachian Kentucky. 肯塔基州中部和阿巴拉契亚地区的非酮症高血糖症。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-01 Epub Date: 2026-01-06 DOI: 10.1177/08830738251409555

Shane Reeves, Austin Wahle, Larry B Goldstein, David Neil Toupin

引用次数: 0