Pediatric Neurology and Neurobiology

Study and treatment of neurodevelopmental delay and disabilities in children foster a diverse range of collaborations within the Department among pediatric neurologists and neurobiologists who share interests in the gene-brain-behavior interrelationship in normal and disease groups. Manifesting common symptoms such as motor development delay, difficulties with sensory integration, speech and language delays, learning disabilities, and poor organizational skills and self-regulation, neurodevelopmental disorders affect multiple modalities and brain regions.

For biomedical and clinical faculty investigators, the fundamental challenges encompass identifying the sites of neuroanatomical abnormality and the neural substrates correlated with specific functional deficits, obtaining evidence regarding the timing of biological onset and the candidate genetic loci, and understanding the impact on cognitive development of early metabolic, genetic, and structural insults to the human nervous system, particularly in relation to brain plasticity.

In addition to long-term projects on pervasive developmental disorders such as Asperger's syndrome, nephropathic cystinosis, pre- and perinatal stroke, and unilateral and bilateral brain damage, Department research and training resources include the UCSD Center for Autism Research, a NIH-designated Autism Center of Excellence that aims to characterize the early developmental clinical phenotype of autism from 12 to 36 months of age, identify early developmental biomarkers of autism from age 12 months, and identify candidate overgrowth susceptibility genes in autism; the Center for Cerebellar Malformations, which serves to coordinate diagnosis and treatment of children with these abnormalities and supports studies on the genetic causes of pediatric neurological brain disorders, including cerebellar and hindbrain malformations, mental retardation syndromes, autism, and epilepsy; and the Mitochondrial and Metabolic Disease Center, a diagnostic and research facility dedicated to the study of abnormalities of mitochondrial DNA and serious neurological disorders related to metabolic defects.

Patient Care
Rady Children's Hospital
Children's Specialist
Mitochondrial

Research
Jonathan D. Bui
Eric Courchesne, PhD
Joseph G. Gleeson, MD
Richard H. Haas, MD
Gabriel G. Haddad, MD
Doris A. Trauner, MD