Incidence of Neonatal Seizures in China Based on Electroencephalogram Monitoring in Neonatal Neurocritical Care Units.

Importance: Neonatal seizures pose a significant challenge in critical care, and continuous video electroencephalography (cEEG) monitoring holds promise for early detection of seizures. However, large-scale data on the incidence of neonatal seizures and monitoring systems in China are lacking.

Objectives: To determine the incidence of neonatal seizures in infants with high risk in China.

Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China.

Emerging evidence demonstrates the clinical utility of genomic applications in newborn intensive care unit (NICU) patients with strong indications of Mendelian etiology. However, such applications' diagnostic yield and utility remain unclear for NICU cohorts with minimal phenotype selection. In this study, focused medical exome sequencing was used as a first-tier, singleton-focused diagnostic tool for 2303 unrelated sick neonates.

Development and validation of Auto-Neo-electroencephalography (EEG) to estimate brain age and predict report conclusion for electroencephalography monitoring data in neonatal intensive care units.

Background: Electroencephalography (EEG) monitoring is widely used in neonatal intensive care units (NICUs). However, conventional EEG report generation processes are time-consuming and labor-intensive. Therefore, an automatic, objective, and comprehensive pipeline for brain age estimation and EEG report conclusion prediction is urgently needed to assist clinician's decision-making.

Preoperative Vitamin D Deficiency Is Associated With Higher Vasoactive-Inotropic Scores Following Pediatric Cardiac Surgery in Chinese Children.

The relationship between vitamin D and cardiovascular health in children remains unclear. Vitamin D deficiency (VDD) is supposed to be a potential risk factor associated with poorer outcomes after congenital heart disease (CHD) surgery. The maximum vasoactive-inotropic use after cardiac surgery is considered to be a good predictor of adverse outcomes.

Amplitude of low-frequency fluctuation may be an early predictor of delayed motor development due to neonatal hyperbilirubinemia: a fMRI study.

Background: Acute bilirubin encephalopathy or kernicterus is the worst consequence of brain damage caused by the elevation of total unbound serum bilirubin (TSB) in neonates. The present study aimed to visualize the characteristic brain regions of neonates with hyperbilirubinemia (HB) using functional magnetic resonance imaging (fMRI) and to measure the amplitude of low-frequency fluctuation (ALFF) values.

Methods: This was a prospective cohort study, which included newborns with HB who were hospitalized at the Children's Hospital of Fudan University.

Data on mutations and Clinical features in SCN1A or SCN2A gene.

Mutations in and are associated with a wide spectrum of epilepsy related disorders in human. This dataset presented variants and clinical features of SCN1A and SCN2A genes. A total of 48 cases were presented, including 33 mutations and 14 mutations.

Clinical and genetic spectrum of a large cohort of children with epilepsy in China.

Purpose: Genetic diagnosis for children suffering from epilepsy has important implications for treatment, prognosis, and development of precision medicine strategies.

Methods: We performed exome sequencing (ES) or targeted sequencing on 733 children with epilepsy onset within the first year of life. We subgrouped our patients based on the onset age of seizure into neonatal and before 1 year (1-12 months), to compare the clinical and genetic features.

Association between SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures.

Background: We investigated the association between SCN1A and SCN2A mutations and clinical phenotype and electroencephalography (EEG) features.

Methods: In this study, 48 patients suffered from epilepsy or severe seizures with SCN1A and SCN2A mutations were recruited. Medical data and molecular diagnosis were analyzed.

Novel compound heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome based on whole exome sequencing.

Peroxisome biogenesis disorders (PBDs) represent a spectrum of human genetic disorders that are characterized by damaged peroxisome assembly. In the newborn period, the characteristics of affected patients include dysmorphic facial features, neonatal hypotonia, seizures, ocular abnormalities, poor feeding, liver cysts with hepatic dysfunction and skeletal defects. These can be caused by a defect in at least 14 different PEX genes.

Executive Function Training for Children with Attention Deficit Hyperactivity Disorder.

Background: Accumulating evidence indicates that attention deficit hyperactivity disorder (ADHD) is associated with core deficits in executive function (EF) which predicts poorer academic and occupational functioning. This makes early intervention targeting EF impairments important to prevent long-term negative outcomes. Cognitive training is a potential ADHD treatment target.