I am a translational researcher and speech-language pathologist whose scholarship focuses on rare diseases and complex communication profiles to improve clinical understanding, intervention, and quality of life for individuals with unique needs. My primary research area centers on Smith-Magenis Syndrome (SMS) and other rare and complex cases. Using data from the International SMS Patient Registry, I have helped to define the language and communication phenotype of SMS and described developmental outcomes as related to genetic subtypes. I have also documented variability in speech, literacy, and use of sign language and AAC (augmentative and alternative communication) in SMS. I have expanded this work through research focused on other rare conditions, such as Sanfilippo syndrome (MPS IIIA) and autoimmune encephalitis, using both case studies and larger sample methods to provide urgently needed clinical information for under-researched populations. A second line of my research explores intervention and patient-centered treatment approaches to address communication disabilities. Research focused on intervention and patient-centered care is essential for addressing the needs of individuals with complex or underrepresented clinical profiles. Patient-centered care includes treatment approaches that emphasize individualized treatment goals, respect each person's values and lived experiences, and actively involves patients in decisions about their care. By prioritizing individualized goals and real-world outcomes in my research, the results enhance the relevance and impact of clinical decision-making across diverse communication challenges.
keywords
Smith-Magenis Syndrome, developmental disabilities, learning disabilities, developmental language disorder, reading and phonological skill, dyslexia, neuroscience, brain activation, fMRI, reading development, reading skill and intervention, special education, speech and language impairment, speech and language intervention, autoimmune encephalitis, Augmentative and Alternative Communication (AAC)
