Neurodevelopmental Disorders

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  Subject Areas on Research

  • A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 
  • A complex of distal appendage-associated kinases linked to human disease regulates ciliary trafficking and stability. 
  • A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. 
  • ASTN2 modulates synaptic strength by trafficking and degradation of surface proteins. 
  • Adolescent alcohol use disrupts functional neurodevelopment in sensation seeking girls. 
  • Antifungal Susceptibility and Clinical Outcome in Neonatal Candidiasis. 
  • Barriers to enrollment in a randomized controlled trial of hydrocortisone for cardiovascular insufficiency in term and late preterm newborn infants. 
  • Behavioral Deficits at 18-22 Months of Age Are Associated with Early Cerebellar Injury and Cognitive and Language Performance in Children Born Extremely Preterm. 
  • Changes in protein function underlie the disease spectrum in patients with CHIP mutations. 
  • Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge. 
  • Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism. 
  • De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. 
  • De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. 
  • De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas. 
  • De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. 
  • De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. 
  • Early Detection and Prevention of Mental Health Problems: Developmental Epidemiology and Systems of Support. 
  • Early prenatal vitamin D concentrations and social-emotional development in infants. 
  • Effect of Depth and Duration of Cooling on Death or Disability at Age 18 Months Among Neonates With Hypoxic-Ischemic Encephalopathy: A Randomized Clinical Trial. 
  • Extreme Preterm Infant Rates of Overweight and Obesity at School Age in the SUPPORT Neuroimaging and Neurodevelopmental Outcomes Cohort. 
  • Family members' experience of well-being as racial/ethnic minorities raising a child with a neurodevelopmental disorder: A qualitative meta-synthesis. 
  • Growth Asymmetry, Head Circumference, and Neurodevelopmental Outcomes in Infants with Single Ventricles. 
  • Growth Rates of Infants Randomized to Continuous Positive Airway Pressure or Intubation After Extremely Preterm Birth. 
  • Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. 
  • Higher or Lower Hemoglobin Transfusion Thresholds for Preterm Infants. 
  • Hydrocortisone to Improve Survival without Bronchopulmonary Dysplasia. 
  • Hyperglycaemia in infants with hypoxic-ischaemic encephalopathy is associated with improved outcomes after therapeutic hypothermia: a post hoc analysis of the CoolCap Study. 
  • Impact of Early-Onset Sepsis and Antibiotic Use on Death or Survival with Neurodevelopmental Impairment at 2 Years of Age among Extremely Preterm Infants. 
  • Influenza vaccination in children with neurologic or neurodevelopmental disorders. 
  • Initial Laparotomy Versus Peritoneal Drainage in Extremely Low Birthweight Infants With Surgical Necrotizing Enterocolitis or Isolated Intestinal Perforation: A Multicenter Randomized Clinical Trial. 
  • Integrating neurocritical care approaches into neonatology: should all infants be treated equitably? 
  • Interactions of innate and adaptive immunity in brain development and function. 
  • Is Adult ADHD a Childhood-Onset Neurodevelopmental Disorder? Evidence From a Four-Decade Longitudinal Cohort Study. 
  • Maternal immune activation: reporting guidelines to improve the rigor, reproducibility, and transparency of the model. 
  • Maternal pre-pregnancy obesity and child neurodevelopmental outcomes: a meta-analysis. 
  • MicroRNA-29 is an essential regulator of brain maturation through regulation of CH methylation. 
  • Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. 
  • Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. 
  • Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies. 
  • Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4. 
  • Neurodevelopmental Outcomes of Preterm Infants With Retinopathy of Prematurity by Treatment. 
  • Neurodevelopmental Risk: A Tool to Enhance Conversations With Families of Infants. 
  • Neurodevelopmental and Behavioral Outcomes in Extremely Premature Neonates With Ventriculomegaly in the Absence of Periventricular-Intraventricular Hemorrhage. 
  • Neurologic complications of congenital heart disease in adults. 
  • Outcomes of Extremely Preterm Infants With Birth Weight Less Than 400 g. 
  • PURA Syndrome and Myotonia. 
  • Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. 
  • Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. 
  • Pediatric Neurodevelopmental Delays in Children 0 to 5 Years of Age With Sickle Cell Disease: A Systematic Literature Review. 
  • Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders. 
  • Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities. 
  • Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 
  • Progress in Understanding and Treating SCN2A-Mediated Disorders. 
  • Racial/Ethnic Disparities Among Extremely Preterm Infants in the United States From 2002 to 2016. 
  • Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features. 
  • Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder. 
  • Resident Dyads Providing Transition Care to Adolescents and Young Adults With Chronic Illnesses and Neurodevelopmental Disabilities. 
  • Six-Year Neurodevelopmental Outcomes for Children With Single-Ventricle Physiology. 
  • Sleep Problems and Trajectories of Restricted and Repetitive Behaviors in Children with Neurodevelopmental Disabilities. 
  • Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. 
  • Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 
  • Survival and Neurodevelopmental Outcomes among Periviable Infants. 
  • The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. 
  • The exon junction complex in neural development and neurodevelopmental disease. 
  • The inflammatory event of birth: How oxytocin signaling may guide the development of the brain and gastrointestinal system. 
  • Timing of postnatal steroids for bronchopulmonary dysplasia: association with pulmonary and neurodevelopmental outcomes. 
  • ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation. 
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  Keywords of People

  • Russ, Jeffrey Brian, Medical Instructor in the Department of Pediatrics, Pediatrics, Neurology
  • Wang, Yun, Assistant Professor in Psychiatry and Behavioral Sciences, Electrical and Computer Engineering