Assistant Professor of Neurology, Harvard Medical School
Neuroimaging correlates of cognition and behavior in Phelan-McDermid Syndrome and Tuberous Sclerosis Complex
Brief Research Description
My research involves studying different genetic causes of neurodevelopmental presentations -- such as autism, intellectual disability, cerebral palsy, and developmental regression -- using the multimodal approach of gene discovery, cognitive/behavioral phenotyping, and biomarker identification. This approach not only pinpoints possible mechanisms of disease but also delineates appropriate targets for therapy in future clinical trials aimed at improving neurodevelopmental outcomes in these disorders.
Most recently, my work has focused on determining neuroimaging correlates of cognition and behavior in Phelan-McDermid Syndrome and Tuberous Sclerosis Complex, two developmental synaptopathies associated with a high prevalence of autism and intellectual disability.
Key Publications (PMCIDs)
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM.
Brain. 2023 Apr 19;146(4):1420-1435; PMID: 36718090
Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change
Busch RM, Frazier Ii TW, Sonneborn C, Hogue O, Klaas P, Srivastava S, Hardan AY, Martinez-Agosto JA, Sahin M, Eng C.
J Neurodev Disord. 2023 Jan 14;15(1):3. PMID: 36641436
