Journal of Child Neurology最新文献

{"title":"Genetic Microcephaly in a Saudi Population: Unique Spectrum of Affected Genes Including a Novel One.","authors":"Muhammad Talal Alrifai, Yousof Alrumayyan, Duaa Baarmah, Ahmed Alrumayyan, Waleed Altuwaijri, Mohammed AlMuqbil, Wafaa Eyaid, Abdulrahman Swaid, Fuad Almutairi, Majid Alfadhel","doi":"10.1177/08830738241252848","DOIUrl":"10.1177/08830738241252848","url":null,"abstract":"<p><p><b>Background:</b> Genetic microcephaly is linked to an increased risk of developmental disabilities, epilepsy, and motor impairment. The aim of this study is to describe the spectrum of identifiable genetic etiologies, clinical characteristics, and radiologic features of genetic microcephaly in patients referred to a tertiary center in Saudi Arabia. <b>Method:</b> This is a retrospective chart review study of all patients with identifiable genetic microcephaly presenting to a tertiary center in Saudi Arabia. The patients' demographics, clinical, laboratory, radiologic, and molecular findings were collected. <b>Results:</b> Of the total 128 cases referred, 52 cases (40%) had identifiable genetic causes. Monogenic disorders were found in 48 cases (92%), whereas chromosomal disorders were found in only 4 cases (8%). Developmental disability was observed in 40 cases (84%), whereas only 8 cases (16%) had borderline IQ or mild developmental delay. Epilepsy was seen in 29 cases (56%), and motor impairment was seen in 26 cases (50%). Brain magnetic resonance imaging (MRI) revealed abnormalities in 26 (50%) of the cohort. Hereditary neurometabolic disorders were seen in 7 (15%) of the 48 cases with monogenic disorders. The most common gene defect was <i>ASPM</i>, which is responsible for primary microcephaly type 5 and was seen in 10 cases (19%). A novel <i>PLK1</i> gene pathogenic mutation was seen in 3 cases (6%). <b>Conclusion:</b> Single gene defect is common in this Saudi population, with the <i>ASPM</i> gene being the most common. Hereditary neurometabolic disorders are a common cause of genetic microcephaly. Furthermore, we propose the <i>PKL1</i> gene mutation as a possible novel cause of genetic microcephaly.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"209-217"},"PeriodicalIF":2.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141283840","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":"Headache and Other Factors Modifying Cerebrospinal Fluid Opening Pressure in Pediatric Patients.","authors":"Oscar M Espitia Segura, Ana M Bedoya Morales, Cristina L Ramírez-Sierra, Juan D Farfán-Albarracín, Sofy H Pérez Cárdenas, Juan D Sánchez Rincón, Jennifer J Guzmán-Porras, Luisa F López Mora, Mateo H Ramírez Salazar, Leydi A Ceballos Inga, María C Rueda Rodríguez, Hugo A Téllez Prada, Juan C Castro Rubio, Ingrid Lemus Espitia, Juan D Guevara Ramos","doi":"10.1177/08830738241252209","DOIUrl":"10.1177/08830738241252209","url":null,"abstract":"<p><p>Cerebrospinal fluid opening pressure values are associated with various neurologic diseases; however, numerous factors can modify this measurement. This study aims to describe factors related to modifications in opening pressure measurements in pediatric patients. <b>Methods:</b> A retrospective analysis of lumbar punctures in pediatric patients conducted by the neuropediatrics group with institutional standardization. Bivariate and linear regression analyses were performed to determine the association between opening pressure and variables included in the study. <b>Results:</b> 544 events, median age 107 months, median opening pressure 19.7 cm H₂O. Bivariate analysis found no association with medication use; anesthetics that increased opening pressure were remifentanil (<i>P</i> = .02) and propofol (<i>P</i> = .05), along with a positive linear correlation between opening pressure and age (<i>P</i> < .0001). Multiple linear regression analysis revealed that age, BMI, male gender, and remifentanil use were associated with an increase in opening pressure, whereas corticosteroid withdrawal was associated with a reduction in opening pressure. There is an interaction between age and headache, with an association with increased opening pressure up to around 140 months. <b>Conclusion:</b> This study identifies factors associated with changes in opening pressure, crucial for estimating normal opening pressure values in children. Headaches, anesthetic use, and corticosteroid withdrawal are confirmed as significant factors.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"195-200"},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140944986","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":"Abnormality of Early White Matter Development in Tuberous Sclerosis Complex and Autism Spectrum Disorder: Longitudinal Analysis of Diffusion Tensor Imaging Measures.","authors":"Siddharth Srivastava, Fanghan Yang, Anna K Prohl, Peter E Davis, Jamie K Capal, Rajna Filip-Dhima, E Martina Bebin, Darcy A Krueger, Hope Northrup, Joyce Y Wu, Simon K Warfield, Mustafa Sahin, Bo Zhang","doi":"10.1177/08830738241248685","DOIUrl":"10.1177/08830738241248685","url":null,"abstract":"<p><p><b>Background:</b> Abnormalities in white matter development may influence development of autism spectrum disorder in tuberous sclerosis complex (TSC). Our goals for this study were as follows: (1) use data from a longitudinal neuroimaging study of tuberous sclerosis complex (TACERN) to develop optimized linear mixed effects models for analyzing longitudinal, repeated diffusion tensor imaging metrics (fractional anisotropy, mean diffusivity) pertaining to select white matter tracts, in relation to positive Autism Diagnostic Observation Schedule-Second Edition classification at 36 months, and (2) perform an exploratory analysis using optimized models applied to all white matter tracts from these data. <b>Methods:</b> Eligible participants (3-12 months) underwent brain magnetic resonance imaging (MRI) at repeated time points from ages 3 to 36 months. Positive Autism Diagnostic Observation Schedule-Second Edition classification at 36 months was used. Linear mixed effects models were fine-tuned separately for fractional anisotropy values (using fractional anisotropy corpus callosum as test outcome) and mean diffusivity values (using mean diffusivity right posterior limb internal capsule as test outcome). Fixed effects included participant age, within-participant longitudinal age, and autism spectrum disorder diagnosis. <b>Results:</b> Analysis included data from n = 78. After selecting separate optimal models for fractional anisotropy and mean diffusivity values, we applied these models to fractional anisotropy and mean diffusivity of all 27 white matter tracts. Fractional anisotropy corpus callosum was related to positive Autism Diagnostic Observation Schedule-Second Edition classification (coefficient = 0.0093, <i>P </i>= .0612), and mean diffusivity right inferior cerebellar peduncle was related to positive Autism Diagnostic Observation Schedule-Second Edition classification (coefficient = -0.00002071, <i>P </i>= .0445), though these findings were not statistically significant after multiple comparisons correction. <b>Conclusion:</b> These optimized linear mixed effects models possibly implicate corpus callosum and cerebellar pathology in development of autism spectrum disorder in tuberous sclerosis complex, but future studies are needed to replicate these findings and explore contributors of heterogeneity in these models.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"178-189"},"PeriodicalIF":2.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11220686/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140944985","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}

{"title":"Proceedings of the 47th Annual Southern Pediatric Neurology Society Meeting, New Orleans, LA, March 23, 2024.","authors":"","doi":"10.1177/08830738241252515","DOIUrl":"10.1177/08830738241252515","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"222-226"},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140944989","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":"<i>CAD</i>-Related Disorder (EIEE-50) in an Infant With Cortical Visual Impairment.","authors":"Sarah Thurman, Callie Fischer, Julie Guerin, Ralitza Gavrilova, Michael Brodsky","doi":"10.1177/08830738241255247","DOIUrl":"10.1177/08830738241255247","url":null,"abstract":"<p><strong>Purpose: </strong>To document the association of <i>CAD</i>-related disorder (EIEE-50) with cortical visual impairment.</p><p><strong>Observations: </strong>An 8-month-old Caucasian boy with whole genome sequencing confirming 2 variants in the gene <i>CAD</i>, who presented with severe seizures, microcephaly, hyperreflexia, hypotonia, anemia, and severe cortical visual impairment. Magnetic resonance imaging (MRI) of the brain noted thickened cortical gray matter along the right calcarine fissure as well as changes suggesting malformation of cortical development. Empiric uridine monophosphate supplementation has significantly improved seizure activity, hypotonia, and development and has led to resolution of anemia.</p><p><strong>Conclusions and importance: </strong><i>CAD</i>-related disorder is treatable and may affect visual cortical development causing severe secondary cortical visual impairment, a newly described clinical manifestation.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"218-221"},"PeriodicalIF":2.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141076095","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":"Individualized Care Delivery for Children With Autism and Related Disabilities Undergoing Overnight Video Electroencephalography (EEG): One Hospital's Experience With a Coordinated Team Approach.","authors":"Kalyn Nix, Atara Siegel, Jessica V Smith, Elizabeth M Wells, Kathleen Atmore","doi":"10.1177/08830738241252849","DOIUrl":"10.1177/08830738241252849","url":null,"abstract":"<p><p><b>Background and Purpose:</b> Children with developmental disabilities have increased risk of epilepsy and need for overnight video electroencephalographic (EEG) monitoring. However, video EEGs have historically been considered difficult to complete for this population. An autism support service at a pediatric tertiary care hospital implemented a coordinated team approach to help children with developmental disability tolerate overnight video EEGs. The project included completion of a caregiver-report preprocedure questionnaire that then was shared with the multidisciplinary team and used to create individualized care plans. The current study aims to describe rates of video EEG completion and need for lead placement under general anesthesia among children with autism and related disabilities who received these supports. <b>Methods:</b> Rates of video EEG completion and general anesthesia use were analyzed for children referred to the support service between April 2019 and November 2021. <b>Results:</b> A total of 182 children with developmental disability (mean age = 10.3 years, 54.9% diagnosed with autism) met inclusion criteria. 92.9% (n<i> </i>= 169) of children successfully completed EEG (leads on ≥12 hours). Only 19.2% (n<i> </i>= 35) required general anesthesia for video EEG lead placement. The majority (80.2%) of parents (n<i> </i>= 146) completed the preprocedure questionnaire. Video EEG outcomes did not differ based on completion of the questionnaire. Parent-reported challenges with communication and cooperation were associated with shorter video EEG duration and greater use of general anesthesia. <b>Conclusions:</b> These findings suggest that most children with developmental disability can complete video EEG with sufficient support. Preprocedure planning can identify children who would benefit from additional accommodations. Further research is necessary to clarify which supports are most helpful.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"201-208"},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140944987","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":"Recognition and Management of Delirium in the Neonatal Intensive Care Unit: Case Series From a Single-Center Level IV Intensive Care Unit","authors":"Stacey Dornette, Stephen Deptola, Brianna Hemmann, Charu Venkatesan, DonnaMaria E. Cortezzo","doi":"10.1177/08830738241246693","DOIUrl":"https://doi.org/10.1177/08830738241246693","url":null,"abstract":"Delirium often goes unrecognized in neonates and children because of lack of experience in evaluating behavior and cognition, insufficient awareness of the prevalence, and nondistinctive symptoms in this population. Although there are increasing reports of the presence of delirium in neonates, there are little data to guide the pharmacologic treatment in this population. In this retrospective single-center case series, we present our experience using quetiapine to treat delirium in 9 medically complex neonates. Based on an extensive literature review, expert opinion, and institutional experience, we propose an approach for monitoring and treating delirium in neonates and infants.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":"47 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140616558","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":"Thanks to Reviewers.","authors":"","doi":"10.1177/08830738241234440","DOIUrl":"https://doi.org/10.1177/08830738241234440","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738241234440"},"PeriodicalIF":1.9,"publicationDate":"2024-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140039461","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":"Clearance for Driving in Genetic Generalized Epilepsy.","authors":"Jay Desai, Kiarash Sadrieh, Eesha Singh","doi":"10.1177/08830738241240178","DOIUrl":"10.1177/08830738241240178","url":null,"abstract":"<p><p>A key aspect of management of genetic generalized epilepsy involves assessing seizure control and deciding suitability for driving motor vehicles. We surveyed child neurologists and pediatric epileptologists on key questions that practitioners should ask prior to providing clearance for driving. The results showed a wide variability of practice among responders. We propose a likely appropriate process necessary to determine seizure control.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"135-137"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140158172","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":"Yield and Utility of Routine Epilepsy Panel Genetic Testing Among Young Patients With Seizures.","authors":"Emily Grew, Mayuri Reddy, Hayley Reichner, Jinsoo Kim, Misbah Salam, Anjum Hashim","doi":"10.1177/08830738241240516","DOIUrl":"10.1177/08830738241240516","url":null,"abstract":"<p><p><b>Objective:</b> We examined the yield of routine epilepsy panel genetic testing in pediatric patients. <b>Methods:</b> We retrospectively reviewed epilepsy genetic panel results routinely performed in the hospital or clinic on patients <8 years old from July 2021 to July 2023. We evaluated demographics, family history, seizure type, severity, and frequency, development, tone and movement abnormalities, dysmorphism, and electroencephalography (EEG) or magnetic resonance imaging (MRI) results as predictors of results. <b>Results:</b> 65 patients were included with mean age 4.5 years. Sixty percent of patients were male; 11 patients had pathogenic variants (16.9%), 7 were carriers for autosomal recessive conditions (10.8%), 36 had variants of uncertain significance (55.4%), and 11 tested negative (16.9%). Pathogenic variants and variants of uncertain significance were unassociated with demographics, clinical features, imaging, or family history. <b>Conclusion:</b> Variants identified have potential implications for treatment (<i>SCN1</i>), comorbidity screening (<i>TSC1</i>), reproduction (<i>ATAD1</i>, <i>PSAT1</i>, and <i>CLN8</i>), and prognostication (<i>FOXG1</i>). Patients not routinely screened for a genetic cause of epilepsy by our standard practices had clinically relevant results.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"138-146"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140287551","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}