Neurodevelopmental Disorders

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  Subject Areas on Research

  • A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 
  • A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features. 
  • ASTN2 modulates synaptic strength by trafficking and degradation of surface proteins. 
  • 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. 
  • Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge. 
  • De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. 
  • De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. 
  • De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. 
  • 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. 
  • Growth Asymmetry, Head Circumference, and Neurodevelopmental Outcomes in Infants with Single Ventricles. 
  • Influenza vaccination in children with neurologic or neurodevelopmental disorders. 
  • 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. 
  • Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies. 
  • Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome. 
  • Neurodevelopmental Outcomes of Preterm Infants With Retinopathy of Prematurity by Treatment. 
  • Neurodevelopmental and Behavioral Outcomes in Extremely Premature Neonates With Ventriculomegaly in the Absence of Periventricular-Intraventricular Hemorrhage. 
  • Progress in Understanding and Treating SCN2A-Mediated Disorders. 
  • 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. 
  • Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 
  • Survival and Neurodevelopmental Outcomes among Periviable Infants. 
  • The exon junction complex in neural development and neurodevelopmental disease. 
  • ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation.