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| http://dx.doi.org/10.1016/j.pediatrneurol.2021.07.014 | DOI Listing |
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Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact.
iScience
February 2025
Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Neurodevelopmental impairments associated with congenital heart disease (CHD) may arise from perturbations in brain developmental pathways, including the formation of sulcal patterns. While genetic factors contribute to sulcal features, the association of noncoding variants (ncDNVs) with sulcal patterns in people with CHD remains poorly understood. Leveraging deep learning models, we examined the predicted impact of ncDNVs on gene regulatory signals.
View Article and Find Full Text PDFLanguage Mapping With rTMS in Healthy Pediatric Patients.
J Clin Neurophysiol
January 2025
Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, U.S.A.
Purpose: Repetitive transcranial magnetic stimulation (rTMS) is a potentially effective, noninvasive tool for language mapping. However, there is a paucity of data in pediatric patients. In this study, we aimed to map language sites in healthy pediatric participants with navigated rTMS.
View Article and Find Full Text PDFPopulation-based, first-tier genomic newborn screening in the maternity ward.
Nat Med
January 2025
Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Pediatrics, CHU Liege, University of Liege, Liege, Belgium.
The rapid development of therapies for severe and rare genetic conditions underlines the need to incorporate first-tier genetic testing into newborn screening (NBS) programs. A workflow was developed to screen newborns for 165 treatable pediatric disorders by deep sequencing of regions of interest in 405 genes. The prospective observational BabyDetect pilot project was launched in September 2022 in a maternity ward of a public hospital in the Liege area, Belgium.
View Article and Find Full Text PDFKetamine Versus Midazolam as the First-Line Continuous Infusion for Status Epilepticus in Children with Cardiac Disease.
Neurocrit Care
January 2025
Division of Neurology, Children's National Hospital, Washington, DC, USA.
Background: The treatment of status epilepticus (SE) in children with cardiac disease is challenging given their often-tenuous hemodynamic state. We aim to determine whether ketamine is safe and effective in children with cardiac disease as the first-line continuous infusion for the treatment of refractory SE (RSE) and to compare ketamine to midazolam for the treatment of RSE in this population.
Methods: This is a single-center retrospective cohort study of pediatric patients with cardiac disease and RSE admitted to the cardiac intensive care unit at a tertiary children's hospital between January 1, 2017 and June 30, 2023.
Early-phase EEG power spectrum analysis may differentiate acute encephalopathy with biphasic seizures and late reduced diffusion from prolonged febrile seizures.
Epilepsy Res
January 2025
Department of Pediatric Neurology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan. Electronic address:
Background: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is clinically characterized by biphasic seizures associated with mild to severe neurological sequelae and is the most common subtype of acute encephalopathy in Japan, accounting for around 30 % of cases. The present study retrospectively analyzed the utility of electroencephalography (EEG) in determining the optimal method of diagnosing AESD at the early stage.
Methods: This study explores early power value differences to differentiate acute encephalopathy from prolonged febrile seizure (FS).
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