Intellectual and Developmental Disorders: Creating a Model System
Every Intellectual and Development Disorders Research Center (IDDRC) has two arms, explains John Foxe, PhD, director of the Del Monte Institute for Neuroscience.
“The human-based one and the cell-molecular, animal-based one,” he says. “The idea is that you’re working with patients, but you’re also working on the model systems to develop new understanding and therapeutics, and move them as quickly as possible to patients.”
Rochester’s IDDRC, led administratively by Foxe and Haggerty-Friedman Professor of Developmental/Behavioral Pediatric Research Tristram Smith, PhD, builds on URMC’s longstanding place as a national hub for the development and application of behavioral interventions for autism spectrum disorder and other childhood neuropsychiatric disorders. Pooling the expertise and capabilities of many laboratories and dozens of investigators, the IDDRC catalyzes research on genomics, gene-environment interactions, neural systems, novel therapies for rare and neglected neurological diseases, and clinical trials of IDD treatments.
One of Foxe’s first goals is to improve the systems for subject recruitment by creating a single point of entry for patients to take part in investigations. To this end, a Human Neurophysiology Lab was created in the Annex building (also home to the RCBI) where for the first time, patients (primarily children with autism spectrum disorder and more than 40 other related diseases) can be evaluated, diagnosed, treated and take part in research at one location. It is outfitted with the most advanced equipment for structural and functional neuroimaging, ultra-high-density (UHD) electroencephalography (EEG), imaging genomics, eye-tracking, psychophysics and virtual reality techniques to carry out broad varieties of studies.
For example, Foxe is collaborating to create what he calls “the brain equivalent of a cardiac stress test” to study neural development in children and identify patterns of brain activity (in response to well-defined stimuli) associated with illness. Using EEG technology, brain activity is measured in real-time during the course of a child’s day, which could help identify kids with IDD at a much earlier age than currently the case. Foxe and his team are studying how the brain processes sounds that make up speech, and using EEG to determine where the breakdown is—which circuits are working, and which are not.
“A preverbal child may be able to understand language before she can produce it,” says Foxe. “This ability to process and understand sound will show up as electrical activity, while another child who cannot process sound, or has a deficit, will fail to respond. This creates an opportunity to develop a universal way to screen infants at risk for IDD.”