My Area of Excellence is Clinical Expertise and Innovation. Specifically, I am a clinical pediatric neurologist who specializes in epilepsy and headache disorders.
As a practicing neurologist at Children’s Hospital Physicians in South Weymouth, MA, I care for patients with complex neurologic problems including refractory epilepsy and headache disorders.
I have published 5 original articles and was first author on one of these and senior author on another. Two of these 5 articles were published recently, in 2010, and involve genetic testing for autism spectrum disorder and the identification of mutations in the gene for neurexin-1 (NRXN1) that can lead to autism spectrum disorders and other developmental disorders. As a participant in the Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration, I assisted in testing patients for autism spectrum disorders (ASD) using currently recommended clinical genetic testing as well as chromosomal microarray analysis, which did not have established guidelines. This study showed that the chromosomal microarray analysis had the highest detection rate among clinically available genetic tests for patients with ASD, resulting in a recommendation that CMA be considered as part of the initial diagnostic evaluation of patients with ASD. For the second study, which was conducted by the Division of Developmental Medicine at Children’s Hospital Boston, I assisted with a medical record review of subjects with deletions involving exonic sequences of NRXN1, which indicated that deletions of NRXN1 predispose to a wide spectrum of developmental disorders. Thus, my clinical work contributes important data that is improving our understanding of autism spectrum disorders.
In summary, I apply my expertise in pediatric epilepsy and headache disorders in specialized clinical programs in the Department of Neurology, serve as an educator in this arena, and contribute to research that increases our understanding of these disorders.