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":"<p><p>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 (<i>P</i> = .28). Those with medical conditions reported poorer sleep quality (<i>P </i>< .001) and more awakenings (<i>P</i> = .047), as well as more frequent use of mobile/computer (<i>P</i> = .001) and television (<i>P</i> = .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.</p>","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}
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
{"title":"Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action.","authors":"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","doi":"10.1177/08830738251331359","DOIUrl":"https://doi.org/10.1177/08830738251331359","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251331359"},"PeriodicalIF":2.0,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144026475","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}
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":"<p><p>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; <i>P</i> = .01) or a blood glucose ≥200 mg/dL (OR 0.11, 95% CI 0.01-0.92; <i>P</i> = .04). A lower minimum hemoglobin concentration (10.00 g/dL [standard deviation (SD) 1.67] vs 12.46 g/dL [SD 6.29], <i>t</i>(47) 2.07, <i>P</i> = .04) and a higher average partial pressure of carbon dioxide (Paco<sub>2</sub>) (40.98 mm Hg [SD 4.30] vs 35.58 mm Hg [SD 7.72], <i>t</i>(47) -2.09, <i>P</i> = .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], <i>t</i>(47) -2.09; <i>P</i> = .04). Temperature, blood glucose, hemoglobin concentration, and Paco<sub>2</sub> are potentially modifiable parameters that could be targeted by quality improvement interventions to improve outcomes in this population.</p>","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}
Jenny L Wilson, Audrey K S Soo, Allison Gregory, Nardo Nardocci, Giovanna Zorzi, Matthew Ritzman, Amanda Hope, David W Duncan, Megan Thomas, Serena Bertoldi, Natale A Scalise, Patricia Wood, Heather Massey, Amber Denton, Amanda Sargent, Leena Panwala, Penelope Hogarth, Manju A Kurian, Susan J Hayflick
{"title":"Consensus Clinical Management Guideline for <i>PLA2G6</i>-Associated Neurodegeneration (PLAN).","authors":"Jenny L Wilson, Audrey K S Soo, Allison Gregory, Nardo Nardocci, Giovanna Zorzi, Matthew Ritzman, Amanda Hope, David W Duncan, Megan Thomas, Serena Bertoldi, Natale A Scalise, Patricia Wood, Heather Massey, Amber Denton, Amanda Sargent, Leena Panwala, Penelope Hogarth, Manju A Kurian, Susan J Hayflick","doi":"10.1177/08830738251323649","DOIUrl":"10.1177/08830738251323649","url":null,"abstract":"<p><p>This clinical guideline provides recommendations for the evaluation and management of individuals with <i>PLA2G6-</i>associated neurodegeneration (PLAN). PLAN, a neurodegeneration with brain iron accumulation disorder, presents with infantile-onset (infantile neuroaxonal dystrophy), juvenile-onset, and adult-onset forms with motor, cognitive, ophthalmologic, and autonomic symptoms. This guideline was developed using a modified Delphi process with input from PLAN experts and family members of individuals with PLAN. A literature search was performed, although in the absence of data, recommendations were based on expert opinion. The guideline contains recommendations on diagnostic approach, disease-specific treatment, and symptom-based management.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251323649"},"PeriodicalIF":2.0,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144020844","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}
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":"<p><p>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; <i>P</i> < .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 (<i>r</i> = 0.797, 95% CI 0.716-0.857; <i>R</i><sup>2</sup> 0.636; <i>P</i> < .001) between the two. On plotting HNNE scores and standard base excess on a linear scale, Pearson correlation coefficient showed negative poor correlation (<i>r</i> = -0.349, with 95% CI 0.17 to 0.50, <i>P</i> < .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.</p>","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}
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":"<p><p>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.</p>","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}
Bailyn Hogue, Mekka R Garcia, Connolly G Steigerwald, Maria J Borja, Nicolas J Abreu
{"title":"<i>NDUFS8</i>-Related Leigh Syndrome Mimicking a Leukodystrophy.","authors":"Bailyn Hogue, Mekka R Garcia, Connolly G Steigerwald, Maria J Borja, Nicolas J Abreu","doi":"10.1177/08830738251328199","DOIUrl":"https://doi.org/10.1177/08830738251328199","url":null,"abstract":"<p><p>Leigh syndrome is a progressive infantile neurodegenerative disorder of mitochondrial metabolism that often leads to decompensation in the setting of metabolic stress. It is genetically heterogenous with varied inheritance patterns. One subtype includes <i>NDUFS8-</i>related autosomal recessive Leigh syndrome. This nuclear gene encodes a complex I subunit of the mitochondrial complex chain. Although Leigh syndrome is typically associated with basal ganglia and brainstem involvement, cases of confluent white matter disease have been described with <i>NDUFS8</i>-related disorders. We present the case of a 6-month-old girl with initial imaging suggestive of a leukodystrophy, later found to have a novel homozygous variant in <i>NDUFS8</i>. In conjunction with the clinical course, a diagnosis of Leigh syndrome was made. This case highlights that mitochondrial disorders should be considered on the differential for confluent cerebral white matter disease in early childhood.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251328199"},"PeriodicalIF":2.0,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144011305","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}
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":"<p><p>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 (<i>P</i> < .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 (<i>P</i> < .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.</p>","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}
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":"<p><p>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.</p>","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}
{"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":"<p><p>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.</p>","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}