Vanderbilt Kennedy Center member Sarika (Sar) Peters, Ph.D., assistant professor of Pediatrics and Psychiatry & Behavioral Sciences, is a psychologist who studies rare neurodevelopmental disorders. Her key role has been to serve as an important link in the translational research pipeline by delineating the behavioral and neurophysiological phenotypes, often for the first time, of these rare genetic conditions. “Genotype” refers to inherited genetics, and “phenotype” refers to the outward behaviors or features that result from that genotype.
Peters’ research program focuses on defining the clinical, immune, and stress markers of severity in Rett syndrome and a Rett-delated disorder, MECP2 duplication syndrome. She also uses innovative technology and novel assessment methods to track clinical severity and the development of higher-level cognitive and language functioning in these disorders.
In 2016, Vanderbilt University Medical Center was designated a Rett Syndrome Clinical Research Center of Excellence, an honor bestowed to only 14 centers nationwide.
In the interview below, Peters shares what inspires her research in developmental disabilities, what she’s learned through her work, and how membership with the Vanderbilt Kennedy Center helps her achieve her goals.
What attracted you to developmental disabilities research?
I had always known I wanted to work with children, but I wasn’t sure in what capacity. After graduating from college, I spent one year working as a special education assistant in a fourth- and fifth-grade classroom. The children had a mix of disabilities and functional levels. Some had autism, some had complex medical needs, others had defined syndromes such as Down syndrome. I also had an opportunity to be a coach for Special Olympics. That was a special and formative year for me, and that experience was invaluable as I went to graduate school.
What are your current research interests and what challenges do they address?
I study Rett syndrome and a Rett-related disorder, MECP2 duplication syndrome. These syndromes, although distinct, share some phenotypic features including regression, epilepsy, limited speech, dyspraxia, abnormalities in the autonomic nervous system, and abnormal muscle tone. I am examining the factors (e.g., genetic, immune, stress) that contribute to differing degrees of severity within these syndromes.
Because most of our participants are nonverbal, or have limited language, we rely on parental reports and clinician observations quite a bit. We recognize the challenges inherent in this approach. However, we have also started to use some innovative technologies (e.g., event-related potentials*, wearable devices) and novel assessment methods to track clinical severity, including higher-level cognitive and language skills. These passive methods give us a window into functioning and physiology when the participants themselves are not able to offer a verbal or motor response.
Do you have a story that illustrates the impact of your work?
One of the first research participants I enrolled in a study here shattered all of my preconceived notions of what a child with Rett syndrome looked like. She actually ran down the hall! All of the previous children I had worked with had less mobility and virtually no hand use. In spite of her milder severity, in working with her, I realized how much I was “missing” in capturing her understanding and that the assessment methods at my disposal were still not ideal for her.
I saw her a year later at a conference in Birmingham, and in the hotel lobby, she ran toward me with a huge smile! Her mother exclaimed, “Oh my goodness, she recognizes you after all this time!” She studied my face, and gestured toward my glasses (which I didn’t have a year before) and made a comment about them through her assistive device. At that moment, I not only realized the impact of her access to an assistive technology device, but also realized that so many of the children and adults I work with probably understand much more than what I have ever been able to “quantify.” That fueled my interest in working to use innovative technologies to better capture higher-level processing in Rett syndrome and related disorders.
What are your reasons for becoming a Vanderbilt Kennedy Center (VKC) Member?
I really value the multidisciplinary nature of the VKC. I enjoy being able to work closely with basic scientists and other clinician-scientists to translate and test findings from animal models into human neurogenetic disorders, and to identify important biomarkers for future clinical trials. We have built an amazing multidisciplinary team focused on Rett syndrome and MECP2 here, and I am excited to see how we continue to progress!
*An event-related potential (ERP) is the measured brain response that is the direct result of a specific sensory, cognitive, or motor event. It is measured by a brain imaging method, electroencephalography (EEG), which creates a set of lines, or brain waves, that are used to examine brain activity.
Elizabeth Turner is VKC associate program manager of Communication and Dissemination