The Next Generation

An up-and-coming group of researchers are on the frontlines of understanding Intellectual and Developmental Disabilities 

The complex and vast family of neurological disorders that comprise Intellectual and Developmental Disabilities (IDD) is being met head on by researchers at the Del Monte Institute for Neuroscience. These efforts are bolstered by a large contingent of clinician researchers who serve patients and families with these disorders and are critical partners in efforts to advance care through research.  

URMC is home to many recognized female leaders and innovators in the field of IDD is one of the flagship research programs of the Del Monte Neuroscience Institute. This foundation is being strengthened by a new generation of female researchers who are studying IDD with an eye toward developing new tools that will lead to early diagnosis, more effective behavioral interventions, and ultimately, new treatments that slow the progress of IDD.   

Collaboration gives the work of Emily Knight, M.D., Ph.D., second year developmental-behavioral pediatrics fellow in the Department of Pediatrics, an edge. Knight’s research focuses on autism spectrum disorder (ASD), including developing new and inclusive ways to collect data from children with the disorder. Many research techniques used to test children require a spoken response or the ability to follow complex directions, limiting their use for patients who are nonverbal. Knight’s work includes children of all levels of language and ability in order to better understand this patient population with the hope this may eventually help improve diagnosis and treatment. “There are so many people with varied expertise who are looking at ASD from different perspectives. I think when you have that critical mass you can do some reallyinteresting work.” Knight is collecting data by measuring brainwaves as children listen to specific patterns of sounds while participating in an activity they enjoy. She is investigating whether this brain activity will be able to offer insight into how children with autism process sounds, and how that relates to their interactions with other people and their environment.

Leona Oakes, Ph.D., a senior instructor in the Departments of Neuroscience and Pediatrics, is combing through the data of a 15-year follow-up study on the long-term outcomes of early intervention in individuals with autism spectrum disorder (ASD). She is one of several researchers studying whether the benefits of early intervention are sustained as the people with ASD age. “We know that early intervention has immediate effects. But having evidence that it has lasting long-term effects, including scholastic achievement and protections against mental health issues and adaptive skills, would show these interventions are helping people contribute to society at a higher potential,” Oakes said. “We have a role as a society, to try to create a more accommodating world for people that are different,where they are not just accepted but also in an environment where they can flourish, add their unique perspectives, and their unique understanding of the world.”   

Laura Silverman, Ph.D., an associate professor in Developmental & Behavioral Pediatrics in the Department of Pediatrics, is studying how individuals with autism process language and hand gestures during typical social interactions. Her focus is communication and multisensory functioning in ASD. Silverman employs eye-tracking and computational linguistic methodologies, in collaboration with colleagues in music and neuroscience. “Doing research makes me more aware of cutting-edge therapies and also shows me how people with autism process information,” Silverman said. This understanding enables her to better communicate with parents in her clinical work, explain why their child may be acting a certain way, and give them tools that may help. She’s also in a unique position to work beyond clinical work and research.As a co-director of the Leadership Education and Neurodevelopmental Disabilities (LEND) Program, Silverman helps teach professionals from different disciplines how to be leaders in the field of developmental disabilities. 

While a large contingent of researchers and clinicians are studying autism, many other rare neurodevelopmental disabilities are also the focus of research at the Medical Center. The University of Rochester Batten Center is a comprehensive clinical and research center that supports families while investigating treatments that could slow progression of the disease. Batten disease is a fatal genetic disorder of the nervous system that typically begins in childhood. Tufikameni Brima, Ph.D. is a research assistant professor in the Department of Neuroscience and has focused much of her career on understanding rare neurodevelopmental disorders, like Batten disease and Rett syndrome – another rare genetic disorder. Working in the URMC Cognitive Neurophysiology Lab, Brima is focused on developing objective quantitative measures of brain function in patients who cannot be evaluated with standard cognitive tests due to the nature of their disease. “It is imperative to find an effective way to assess their condition,” Brima said. “This will help when it comes to diagnosis, development of drugs, and advocacy of therapies.” For example, patients with Rett are non-verbal and those with Batten can lose sight. Using an electroencephalogram (EEG), Brima is able to investigate cognitive processing and language comprehension in non-verbal individuals with these rare disorders. She hopes that in addition to objective measures of brain function, her findings will also contribute to the development of better communication devices for these individuals while enabling scientists and clinicians to accurately track the disease’s progress and the effect of current and future therapies. Furthermore, system biomarkers of these disorders could help research and clinical work in other neurodevelopmental disabilities.  her findings will also contribute to the development of better communication devices for these individuals while enabling scientists and clinicians to accurately track the disease’s progress and the effect of current and future therapies. Furthermore, system biomarkers of these disorders could help research and clinical work in other neurodevelopmental disabilities.  her findings will also contribute to the development of better communication devices for these individuals while enabling scientists and clinicians to accurately track the disease’s progress and the effect of current and future therapies. Furthermore, system biomarkers of these disorders could help research and clinical work in other neurodevelopmental disabilities.  

The work of these researchers, as well as efforts of many others at the University of Rochester who are studying IDD, is advancing our understanding of the brain’s complex networks and how we process external stimuli. The close collaboration with clinicians who provide care will enable this research to transform how we provide care and improve the quality of life for patients and families diagnosed with neurodevelopmental disorders. 

4/24/2020