Journal of Child Neurology最新文献_第7页

Heimler Syndrome: A Report of 2 Indian Children With Review of Literature. 海姆勒综合征：2例印度儿童报告并文献复习。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-04-30 DOI: 10.1177/08830738251335053

Asha Bilamge, Pradeep Kumar Gunasekaran, Ashna Kumar, Rahul Gupta, Kandha Kumar U K, Sarbesh Tiwari, Lokesh Saini

{"title":"Heimler Syndrome: A Report of 2 Indian Children With Review of Literature.","authors":"Asha Bilamge, Pradeep Kumar Gunasekaran, Ashna Kumar, Rahul Gupta, Kandha Kumar U K, Sarbesh Tiwari, Lokesh Saini","doi":"10.1177/08830738251335053","DOIUrl":"https://doi.org/10.1177/08830738251335053","url":null,"abstract":"IntroductionHeimler syndrome 1 is a group of peroxisomal biogenesis disorders due to the pathogenic variations in the peroxisomal biogenesis factor 1 (PEX1) gene resulting in the dysfunction of intracellular peroxisomes. PEX1 gene encodes proteins that are involved in the import of peroxisomal matrix proteins.PatientsA 6-year-old boy, second born to nonconsanguineous parents, presented with global developmental delay, progressive hearing loss, and night blindness. He had an uneventful antenatal and perinatal period. He had a significant family history with similar complaints of global developmental delay and progressive hearing loss in a 3-year-old younger sibling.ResultsOphthalmologic evaluation of both siblings revealed bilateral retinitis pigmentosa. Brainstem evoked response audiometry was suggestive of bilateral sensorineural hearing loss. Brain magnetic resonance imaging (MRI) of the index child revealed T2-weighted and fluid-attenuated inversion recovery hyperintensity involving the splenium of the corpus callosum, bilateral periatrial white matter without diffusion restriction. Whole exome sequencing revealed a heterozygous 5' splice site variant in intron-21 affecting donor splice site of exon-21 (c.3438+2T>C), and a heterozygous missense variant in exon-5 (p.Thr173Asn) of the PEX1 gene.ConclusionWe report 2 cases of Heimler syndrome 1 with novel neuroimaging features with a review of the literature available on this very rare entity. Heimler syndrome 1 is a rare peroxisomal biogenesis disorder presenting with bilateral sensorineural hearing loss, retinitis pigmentosa, teeth, and nail changes. Children presenting with similar phenotypes should be genetically tested for pathogenic variations of PEX1 and PEX6 genes, as there are currently no biochemical signatures available for diagnosing Heimler syndrome and significant clinical overlap with other syndromes.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251335053"},"PeriodicalIF":2.0,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144009318","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

Atypical Presentation of Congenital Muscular Dystrophy: A LAMA2 Related Muscular Dystrophy. 先天性肌营养不良的不典型表现：一种LAMA2相关的肌营养不良。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-04-29 DOI: 10.1177/08830738251333467

Sarah Oswald, Martha Finch, Abigail Schwaede

{"title":"Atypical Presentation of Congenital Muscular Dystrophy: A LAMA2 Related Muscular Dystrophy.","authors":"Sarah Oswald, Martha Finch, Abigail Schwaede","doi":"10.1177/08830738251333467","DOIUrl":"https://doi.org/10.1177/08830738251333467","url":null,"abstract":"The congenital muscular dystrophies are a group of inherited disorders that present in infancy or early childhood with generalized weakness and hypotonia as well as a wide range of other clinical manifestations. Merosin-deficient congenital muscular dystrophy, also referred to as LAMA2-related muscular dystrophy, is caused by biallelic pathogenic variants in the LAMA2 gene and can present with both an early-onset infantile and late-onset childhood form. Patients with the most severe phenotype typically present within the first few months of life with severe weakness and hypotonia and can develop contractures, scoliosis, dysphagia, as well as peripheral nerve and central nervous system abnormalities. We report a case of an infant that presented with focal weakness of his upper extremities that was initially thought to be due to cervical spinal abnormality or brachial plexus injury but was ultimately found to have Merosin-deficient congenital muscular dystrophy. This case highlights an atypical presentation of congenital muscular dystrophy and demonstrates the importance of having a low threshold for testing for congenital muscular dystrophies in infants with abnormalities in strength or tone.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251333467"},"PeriodicalIF":2.0,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144012955","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

Intersectionality in Caregiving for Autism: A Discourse Analysis of Lived Experiences from Academic Literature. 自闭症照护的交叉性：来自学术文献的生活经验话语分析。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-04-29 DOI: 10.1177/08830738251334205

Nudurupati Venkata Tejo Prasanna, Monalisa Nayak

引用次数: 0

Powassan Virus Encephalitis in Pediatric Patients. 小儿波瓦桑病毒脑炎

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-04-27 DOI: 10.1177/08830738251333465

Celia Greenlaw, Rebecca MacRae, Molly Wilson-Murphy

引用次数: 0

Proceedings of the 48th Annual Southern Pediatric Neurology Society Meeting, New Orleans, LA, March 8, 2025. 第48届南方儿科神经学会年会论文集，新奥尔良，洛杉矶，2025年3月8日。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-04-27 DOI: 10.1177/08830738251335354

引用次数: 0

Screening for Sleep Disturbances in Children and Adolescents with Tics, Headache Disorders or Type 1 Diabetes. 患有抽动症、头痛疾病或1型糖尿病的儿童和青少年的睡眠障碍筛查。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-04-24 DOI: 10.1177/08830738251331750

Charlotte P A Bengtsen, Cecilie Paulsrud, Steffen U Thorsen, Paul Jørgen Jennum, Jannet Svensson, Nanette M Mol Debes

{"title":"Screening for Sleep Disturbances in Children and Adolescents with Tics, Headache Disorders or Type 1 Diabetes.","authors":"Charlotte P A Bengtsen, Cecilie Paulsrud, Steffen U Thorsen, Paul Jørgen Jennum, Jannet Svensson, Nanette M Mol Debes","doi":"10.1177/08830738251331750","DOIUrl":"https://doi.org/10.1177/08830738251331750","url":null,"abstract":"Sleep is essential for mental and physical well-being, yet it is often overlooked in children with medical conditions. To address this gap, we implemented screening for sleep disturbances to assess their prevalence in our clinics and identify potential intervention strategies. This cross-sectional study included children and adolescents aged 6-17 years with tics/Tourette syndrome, headaches, type 1 diabetes, and a healthy control group, who completed the validated Sleep Screening Questionnaire-Children and Adolescents (SSQ-CA).In total, 157 children with medical conditions and 117 healthy children completed the Sleep Screening Questionnaire-Children and Adolescents. Overall, 81.5% of the children with medical conditions reported a sleep disturbance compared with 70.9% in the healthy group (P = .28). Those with medical conditions reported poorer sleep quality (P < .001) and more awakenings (P = .047), as well as more frequent use of mobile/computer (P = .001) and television (P = .002) before bedtime compared with healthy children.We identified an alarmingly high prevalence of sleep disturbances in children with selected medical conditions, including more use of screens before bedtime, highlighting a significant yet frequently overlooked issue and possible target for intervention.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251331750"},"PeriodicalIF":2.0,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143993979","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

Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action. 儿童痴呆症：集体影响和迫切需要提高认识和采取行动。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-04-23 DOI: 10.1177/08830738251331359

Kristina L Elvidge, Michelle A Farrar, John Christodoulou, Maina P Kava, Alexandra M Johnson, Marc C Patterson, Simon A Jones, Sameer Zuberi, Jo M Wilmshurst, Nicholas J C Smith

引用次数: 0

Association of Physiologic Parameters with Neurologic Outcome After Arteriovenous Malformation Rupture in Children. 儿童动静脉畸形破裂后生理参数与神经预后的关系。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-04-23 DOI: 10.1177/08830738251330110

Julia S Keenan, Claire Har, Florence Yan, Leigh Sepeta, Katelyn Staso, Caroline R Conley, Arnold J Sansevere, Dana B Harrar

{"title":"Association of Physiologic Parameters with Neurologic Outcome After Arteriovenous Malformation Rupture in Children.","authors":"Julia S Keenan, Claire Har, Florence Yan, Leigh Sepeta, Katelyn Staso, Caroline R Conley, Arnold J Sansevere, Dana B Harrar","doi":"10.1177/08830738251330110","DOIUrl":"https://doi.org/10.1177/08830738251330110","url":null,"abstract":"Evidence to guide the critical care management of children with ruptured brain arteriovenous malformations is lacking. We aimed to determine whether there are associations between physiologic parameters and outcome in children with ruptured brain arteriovenous malformations. We performed a single-center retrospective review of patients ≤18 years of age with a ruptured brain arteriovenous malformation from 2011 to 2023. Categorization of outcome was based on the Pediatric Stroke Outcome Measure. Descriptive statistics were used. Most patients with an arteriovenous malformation rupture had a poor outcome at discharge (31/49, 63%) and in follow-up at 3-12 months (21/37, 57%). Patients who were normothermic and normoglycemic for the first 7 days after arteriovenous malformation rupture were less likely to have a poor outcome at discharge than those who had a temperature ≥38 °C (odds ratio [OR] 0.14, 95% confidence interval [CI] 0.04-0.52; P = .01) or a blood glucose ≥200 mg/dL (OR 0.11, 95% CI 0.01-0.92; P = .04). A lower minimum hemoglobin concentration (10.00 g/dL [standard deviation (SD) 1.67] vs 12.46 g/dL [SD 6.29], t(47) 2.07, P = .04) and a higher average partial pressure of carbon dioxide (Paco2) (40.98 mm Hg [SD 4.30] vs 35.58 mm Hg [SD 7.72], t(47) -2.09, P = .046) were also associated with a poor discharge outcome. A higher average maximum temperature was associated with a poor outcome in follow-up (37.46° C [SD 0.49] vs 37.09 °C [SD 0.59], t(47) -2.09; P = .04). Temperature, blood glucose, hemoglobin concentration, and Paco2 are potentially modifiable parameters that could be targeted by quality improvement interventions to improve outcomes in this population.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251330110"},"PeriodicalIF":2.0,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143987025","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

Correlation of Umbilical Cord Arterial pH and Standard Base Excess in Term Neonates With Neurologic Examination at Discharge: A Cohort Study. 足月新生儿脐带动脉pH值和标准碱性超标与出院时神经系统检查的相关性：一项队列研究。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-04-21 DOI: 10.1177/08830738251329152

Priyanshi Dudeja, Shalini Tripathi, Mala Kumar, S N Singh

{"title":"Correlation of Umbilical Cord Arterial pH and Standard Base Excess in Term Neonates With Neurologic Examination at Discharge: A Cohort Study.","authors":"Priyanshi Dudeja, Shalini Tripathi, Mala Kumar, S N Singh","doi":"10.1177/08830738251329152","DOIUrl":"https://doi.org/10.1177/08830738251329152","url":null,"abstract":"BackgroundUmbilical cord arterial pH less than 7.0 and base excess ≥12 mmol/L are associated with adverse short and long-term neurologic outcomes. Hammersmith Neonatal Neurological Examination (HNNE) is used to predict long-term neurologic outcomes; its validity has been established at discharge.MethodsThis study was done to find the correlation between umbilical cord arterial pH and standard base excess with HNNE score, subsection scores at discharge. Fifty-five term neonates with perinatal asphyxia defined as umbilical cord arterial pH <7.0 and/or base excess ≥12 mmol/L and 55 healthy neonates with umbilical cord arterial pH >7.2 were examined by HNNE scores at discharge and the correlation between umbilical cord arterial pH and standard base excess with HNNE score was calculated.ResultsAmong 55 neonates with perinatal asphyxia, all developed hypoxic-ischemic encephalopathy (HIE) with 21 (38%) at stage I, 26 (47%) stage II, and 8 (15%) stage III. The mean HNNE scores of neonates with perinatal asphyxia were lower than healthy neonates (20.2 ± 3.13 vs 31.65 ± 1.92; P < .0001). The difference was significant in subsection scores too. On plotting HNNE scores and umbilical cord arterial pH on a linear scale, Pearson correlation coefficient showed good correlation (r = 0.797, 95% CI 0.716-0.857; R2 0.636; P < .001) between the two. On plotting HNNE scores and standard base excess on a linear scale, Pearson correlation coefficient showed negative poor correlation (r = -0.349, with 95% CI 0.17 to 0.50, P < .001).ConclusionHNNE scores at discharge were significantly lower among term neonates with perinatal asphyxia than in healthy neonates. There was good correlation between umbilical cord arterial pH and HNNE scores at discharge. Standard base excess was not associated with HNNE scores.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251329152"},"PeriodicalIF":2.0,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144026102","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

Interests and Experiences of Young Adults with Muscular Dystrophy in Receiving Genetic Information. 肌萎缩症青少年接受遗传信息的兴趣与经验。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-04-17 DOI: 10.1177/08830738251330413

Leah Hammond, Christina Ippolito, Kimberly Amburgey, David Chitayat, Stacy Hewson, Laura McAdam

{"title":"Interests and Experiences of Young Adults with Muscular Dystrophy in Receiving Genetic Information.","authors":"Leah Hammond, Christina Ippolito, Kimberly Amburgey, David Chitayat, Stacy Hewson, Laura McAdam","doi":"10.1177/08830738251330413","DOIUrl":"https://doi.org/10.1177/08830738251330413","url":null,"abstract":"Growing public awareness of genetic research, increased availability of genetic testing options, and the recent arrival of several gene-targeted therapies have combined to make genetic testing a topic of interest within many disease communities, including muscular dystrophies. We sought to investigate the genetic information received, the genetic services provided, the genetic information and services of interest to young adults with muscular dystrophy, and to identify existing gaps in the delivery of genetic information and services. Young adults with muscular dystrophy were surveyed about their interests and experiences in receiving genetic information/testing. Surveys were completed by 226 young adults with muscular dystrophy (150 male, 72 female; mean age = 21.6 years, range = 16-25 years) from Canada and the United States. Approximately 60% or less of respondents felt knowledgeable about genetic topics, including inheritance and reproductive options. Only 28% of respondents had previously met with a genetic counselor and 60% of respondents wanted to obtain more information. Findings highlight gaps between the receipt of and interest in genetic information.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251330413"},"PeriodicalIF":2.0,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144007420","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