Journal of Child Neurology最新文献

{"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":"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":"465-468"},"PeriodicalIF":2.0,"publicationDate":"2025-07-01","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}

{"title":"Time to Diagnosis of Duchenne Muscular Dystrophy Patients With or Without Development Delay.","authors":"Marco Antônio Veloso de Albuquerque, Karla Danielle Lima, Fernando Kok, Edmar Zanoteli","doi":"10.1177/08830738251346285","DOIUrl":"https://doi.org/10.1177/08830738251346285","url":null,"abstract":"<p><p>IntroductionDuchenne muscular dystrophy, the most common inherited neuromuscular disease in children, typically presents its first symptoms at 3-5 years of age with progressive muscular weakness. However, in some boys, the disease manifests earlier in childhood with developmental delays, such as delays in walking and speech, or signs of an autism spectrum disorder.ObjectiveTo analyze and compare the age and time until diagnosis in boys with Duchenne muscular dystrophy, with or without developmental delays as the first sign of disease.Material and MethodsThis is a retrospective descriptive study. Data were collected from 127 boys with Duchenne muscular dystrophy who were followed at the Outpatient Muscle Clinic of Hospital das Clínicas (FMUSP/SP) from 2015 to 2024. To determine the age and time interval between symptom onset and diagnosis, we analyzed the total sample, and 3 separate groups based on initial symptoms.ResultsIn the total sample, the mean age of diagnosis was 6.9 years, with an average interval of 3.6 years between symptom onset and diagnosis. In patients with developmental delays, initial symptoms were observed at an average age of 1.4 years, and despite a diagnosis delay of 3.4 years, these patients were diagnosed an average of 2.7 years earlier than those with normal development.ConclusionOur findings suggest that Duchenne muscular dystrophy should be considered in the differential diagnosis of boys presenting with developmental delays (motor, speech, or cognitive). In such cases, screening with creatine kinase level measurements is crucial.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251346285"},"PeriodicalIF":2.0,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144317042","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":"Efficacy and Safety Study of the Revised Ege Pediatric Status Epilepticus Protocol (r-EPSEP).","authors":"Benay Turan, Seda Kanmaz, Caner Turan, Pınar Yazici, Erdem Simşek, Ali Yurtseven, Hepsen Mine Serin, Sanem Yilmaz, Gul Aktan, Sarenur Gokben, Bulent Karapınar, Eylem Ulas Saz, Hasan Tekgul","doi":"10.1177/08830738251346214","DOIUrl":"https://doi.org/10.1177/08830738251346214","url":null,"abstract":"<p><p>PurposeTo assess the efficacy and safety of an updated institutional treatment protocol for convulsive status epilepticus (CSE).MethodsA single-center, retrospective cohort study was designed to investigate the effectiveness of a protocolized approach for the treatment of pediatric convulsive status epilepticus. The revised Ege Pediatric Status Epilepticus Protocol (r-EPSEP) consists of first-line therapy (step 1 and step 2 with benzodiazepines), second-line therapy (step 3 and 4 with levetiracetam /diphenylhydantoin / valproic acid), and third-line therapy (step 5 with midazolam infusion, and step 6 with propofol or thiopental sodium infusion). The success rates of each therapy line of the r-EPSEP were defined with clinical termination of convulsive status epilepticus.ResultsThe convulsive status epilepticus cohort consisted of 293 children treated with the r-EPSEP. The cumulative success rates of each therapy line were as follows; first-line with 55.2%, second-line with 82.9%, and third-line with 96.9%. Benzodiazepine-resistant convulsive status epilepticus was defined in 131 children (44.7%) with convulsive status epilepticus. The r-EPSEP provided successful termination of refractory convulsive status epilepticus in 66 of 75 children (88%) with 3 therapy categorizations: (1) second-line therapy in 29 patients (38.6%), (2) midazolam infusion in 31 (41.3%), and (3) propofol or thiopental infusion in 6 (8%). Super-refractory convulsive status epilepticus evolved in 9 children (12%). A favorable neurologic outcome was defined in 74.7% of children with Modified Rankin Scores at the discharge time of children from the intensive care unit.ConclusionThe timeline-based protocol (r-EPSEP) provided considerable success rates in terminating status epilepticus episodes at predefined time points of each therapy line with a favorable early neurologic outcome.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251346214"},"PeriodicalIF":2.0,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144317041","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":"Convergent Validity of the Fine Motor, Speech, and Cognitive Domains of the 5-Domain Niemann-Pick Disease Type C Clinical Severity Scale.","authors":"Cristan Farmer, Monica Lewis, Nicole Farhat, Kendall P Robbins, Lisa Joseph, Orsolya K Albert, Simona Bianconi, Anne Hoffmann, Ivy Giserman-Kiss, Derek M Alexander, Audrey Thurm, Forbes D Porter, Elizabeth Berry Kravis","doi":"10.1177/08830738251346348","DOIUrl":"https://doi.org/10.1177/08830738251346348","url":null,"abstract":"<p><p>The 5-Domain Niemann Pick Type C Clinical Severity Scale (5DNPCCSS) is used in clinical practice and trials. Although psychometric data support the clinical meaningfulness of the concepts and the scale's interrater reliability, more information is needed to support its construct validity. Here, we evaluated the convergent validity of the Cognition, Speech, and Fine Motor domains. Data from 121 individuals with Niemann-Pick disease type C were drawn from several studies conducted at 2 US sites. Direct standardized assessments included the Nine-Hole pegboard or Purdue pegboard, a portion of the Clinical Evaluation of Language Fundamentals, and the age-appropriate Wechsler IQ test or the Mullen Scales of Early Learning. The 5DNPCCSS domains were significantly related in the expected directions to their respective direct assessments, supporting their construct validity. In combination with previous evidence presented for the Ambulation and Swallow domains, these results support the fitness of purpose of the (5DNPCCSS for clinical studies in Niemann-Pick disease type C. ClinicalTrials.gov: NCT00344331, NCT01747135, NCT02534844.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251346348"},"PeriodicalIF":2.0,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144317040","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":"Influence of Social Determinants of Health on Treatment Completion for Pediatric Mild Traumatic Brain Injury in a Safety Net Hospital.","authors":"Marc Marisco, Shivangi Kataria, Gustavo Ignacio Rivas Martinez, Farah Mokeddem, Alcy R Torres","doi":"10.1177/08830738251343164","DOIUrl":"https://doi.org/10.1177/08830738251343164","url":null,"abstract":"<p><p>The negative impact of the Social Determinants of Health (SDOH) on health care outcomes in vulnerable populations, particularly pediatric patients, is a well-established phenomenon. The treatment of traumatic brain injury is not an exception. It is not clear, however, which specific social determinants of health factor is more influential on the current management of traumatic brain injury in these populations. This study addresses this gap by exploring how these factors influence the treatment of traumatic brain injuries in pediatric patients at Boston Medical Center, a safety net hospital in Boston, MA. Our hypothesis suggests that the presence of some of the social determinants of health negatively affects the treatment of traumatic brain injury in children and youth. Through a χ² test of independence conducted on 247 patients, analyzing variables such as insurance status, primary language, race, ethnicity, and zip code, we demonstrated a lack of statistically significant evidence of a relationship between the identified social determinants of health and treatment completion status.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251343164"},"PeriodicalIF":2.0,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144275002","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":"Analyzing the Impact of Racial and Ethnic Background on Timeline of Receiving a Confirmatory Genetic Test in Children With Epilepsy: An Investigation Using Survival Analysis.","authors":"Rachit Patil, Kunal Bonde, Joshua Tanzer, Lauren Massingham","doi":"10.1177/08830738251334937","DOIUrl":"https://doi.org/10.1177/08830738251334937","url":null,"abstract":"<p><p>BackgroundEpilepsy is a common childhood disorder and significant advances in its management have emerged in the past decade with the integration of genetic evaluation and testing. However, health care disparities can pose significant challenges, often leading to missed opportunities for effective management. Addressing these disparities is crucial for improving outcomes and ensuring better care for all patients.ObjectiveThis study aims to determine the rate at which individuals diagnosed with epilepsy receive a genetic diagnosis. In addition, we aim to examine the ethnic distribution of individuals diagnosed with epilepsy who undergo genetic testing and compare this to the ethnic composition of the general population of children in Rhode Island and to assess the time it takes for individuals from different ethnic backgrounds to complete genetic testing after being seen in a genetics clinic, regardless of potential extenuating circumstances.MethodsThis study is a retrospective analysis of 231 individuals diagnosed with epilepsy between 0 and 18 years of age who were evaluated by the genetics department at a tertiary care facility in Rhode Island between 2015 and 2020 to consider a genetic workup for seizures. Cohort clinical characteristics related to their diagnosis of seizures was collected, including genetic workup. Self-identified race, ethnicity, and ancestry was also collected. Interrogation of the differences in multiple factors were analyzed including diagnostic yield, comparison of breakdown self-identified race, ethnicity, and ancestry with the general population and generalized linear mixed effects modeling using 4 time periods (seizure onset, initial genetic evaluation, initial genetic test, and subsequent genetic test).ResultsDiagnostic yield overall for genetic diagnosis for those with seizures was 30%. Our cohort make-up of the race, ethnicity, and ancestry ancestral groups that were available (White, Black, and Latine) were comparable to US Census data for children living in Rhode Island. With the linear mixed effects modeling, those of Latine ancestry overall completed genetic workup in a shorter turnaround time than White and Black groups.ConclusionsOverall, our diagnostic yield is comparable to those cited in other studies. It is encouraging that the ratio of children evaluated in the tertiary care genetics clinic is similar to the general population breakdown of the state. The shorter turnaround trend for the Latine group and longer turnaround time with the Black group shows evidence that there are differences in management that need to be investigated further in order to provide equitable care and improve outcomes for all.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251334937"},"PeriodicalIF":2.0,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144284523","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":"Trio-Based Whole-Genome Sequencing for Critically Ill Pediatric Patients in Korea.","authors":"Seungbok Lee, June-Young Koh, Joonoh Lim, Jaeso Cho, Woojoong Kim, Yuna Lee, Boram Yi, Eunjung Joo, Dawoon Jung, Byung Chan Lim, Soo Yeon Kim, Jong-Hee Chae","doi":"10.1177/08830738251344996","DOIUrl":"https://doi.org/10.1177/08830738251344996","url":null,"abstract":"<p><p>This study aimed to implement whole-genome sequencing using an automated pipeline for critically ill pediatric patients within a real-world health care system. Twenty patients under 36 months of age, admitted to the neonatal or pediatric intensive care unit or suspected of having rapidly progressive genetic disorders, were enrolled. Trio-based whole-genome sequencing was performed using an optimized processing pipeline, which automatically performed mapping, variant calling, annotation, and in silico pathogenicity assessment. Among 20 enrolled patients, 11 (55%) were from the neonatal intensive care unit, and 16 (80%) presented with neurologic manifestations as their chief complaint. The median time from symptom onset to study enrollment was 73 days for 18 patients referred from other hospitals and less than a week for 2 in-hospital patients. The median turnaround time for whole-genome sequencing was 10 days, with the shortest being 5 days. A definite or presumed genetic diagnosis was made in 11 patients (55%), including 10 of 16 with neurologic symptoms (62.5%) and 1 of 4 with nonneurologic symptoms (25%). Management plans were modified for 8 of the 11 patients (72.7%), including medication changes, diet modifications, and preimplantation genetic testing for future pregnancies. This study highlights the feasibility and clinical utility of whole-genome sequencing in critically ill pediatric patients in Korea, demonstrating a high diagnostic yield and significant impact on patient management, particularly among those presenting with neurologic symptoms. Establishing a nationwide fast-track system and providing detailed testing indications are required for effective implementation. Further automation and resource optimization could reduce the turnaround time and improve the efficacy of whole-genome sequencing in critical care settings.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251344996"},"PeriodicalIF":2.0,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266276","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":"Generalized Lymphadenopathy in an 8-Month-Old Infant: Visual Diagnosis.","authors":"Sobia Nawaz, Huma Naser, Ratna Basak","doi":"10.1177/08830738251339573","DOIUrl":"https://doi.org/10.1177/08830738251339573","url":null,"abstract":"<p><p>Mycobacterium tuberculosis (TB) cases in the US, although less frequent, have been on the rise recently especially after the COVID-19 pandemic with numbers reaching as high as those last seen in 2013. It is a highly contagious disease and, if left un-checked, can lead to long-term nation-wise public health crisis. Infants and children account for a major chunk of global TB burden. TB can have varied presentation in infants depending upon extent of spread and the organ system involved. Infants are prone to contact mycobacterium TB infections and develop a life-threatening (although rare) disseminated infection because of their immature immune status. It is important to timely diagnose and treat to avoid the transmission and morbidity. Radiological evaluations including X-ray, CT-scan and MRI play a vital role when the symptoms are ill defined. Although not commonly seen, the tuberculomas in the brain appearing as ring-enhancing lesions point towards wide-spread involvement and calls for urgent treatment. In our case, an 8-month-old infant presented with lymphadenopathy and increasing head circumference. Further diagnostic evaluations led to the diagnosis of military TB. Our case sheds light on diagnosing a case of military TB in an infant in a broad range of differentials.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251339573"},"PeriodicalIF":2.0,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266275","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":"A Novel Epilepsy Phenotype in a Young Girl With a Pathogenic <i>SETD5</i> Gene Variant.","authors":"Davide Alessi, Mariapaola Schifino, Giovanna Traficante, Giulia Gori, Emanuele Bartolini","doi":"10.1177/08830738251345038","DOIUrl":"https://doi.org/10.1177/08830738251345038","url":null,"abstract":"<p><p>Recent studies suggest a possible association between variants in <i>SETD5</i> and epilepsy, particularly in individuals with intellectual disability and developmental delay. However, the current understanding of <i>SETD5</i> function in epilepsy is limited. We describe a 6-year-old girl harboring a pathogenic <i>SETD5</i> gene variant, disclosed in early infancy by whole exome sequencing that was performed for global developmental delay. Her neurologic phenotype evolved during follow-up to include focal and generalized seizures as well as an overt neurodevelopmental disorder, characterized by receptive-expressive language difficulties with speech disorder and mild cognitive impairment. Her clinical picture was also characterized by recurrent urinary tract infections in a duplex collecting system due to a concomitant and unrelated <i>GREB1L</i> gene variant. Our findings confirm that epilepsy may arise after <i>SETD5</i> variants, with subtle clinical manifestations that may overlap with behavioral phenomena in children who also exhibit cognitive and behavioral comorbidities.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251345038"},"PeriodicalIF":2.0,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144215965","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":"Depictions of Pediatric Neurologic Disability in Graphic Novels.","authors":"Dorottya B Kacsoh, Maya C Ayoub, Diana Cejas, Danielle Guez Barber, Yolanda Holler-Managan, Young-Min Kim, Talia Shear, Jennifer Kim, Stacy Kitsis, Elinor Christy, Alison Christy","doi":"10.1177/08830738251344998","DOIUrl":"https://doi.org/10.1177/08830738251344998","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251344998"},"PeriodicalIF":2.0,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144215966","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}