Patient Story Chelsea - Cowden Syndrome.
In this full length video Chelsea talks to Dr Siddharth Srivastava about her experience of Cowden Syndrome.
Chelsea had undergone multiple treatments and surgeries before by chance a dermatologist with knowledge of Cowden Syndrome recognized the signs. Chelsea kindly agreed to share her story in the hope of educating others. and some of the Facebook groups she refers to in the video are included in the resources link for this video.
Dr Srivastava is a pediatric neurologist at Boston Children's Hospital specializing in neurogenetics.
His 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, his 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.
At Boston Children's Hospital, he provides care to children in a variety of neurodevelopmental and neurogenetics clinics. Dr. Srivastava takes part in the Developmental Neurogenetics Program, which specializes in the diagnosis and management of genetic disorders associated with neurodevelopmental disabilities. Within this program, he helps see patients in their multidisciplinary Phelan-McDermid Syndrome Clinic and PTEN Clinic, whose goals include optimizing long-term neurodevelopmental outcomes and coordinating specialty care across multiple disciplines. He also evaluate and treat patients in their Cerebral Palsy Diagnostic Program, which strives to diagnose genetic disorders presenting as cerebral palsy.
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Patient Story Chelsea - Cowden Syndrome.
Dr Siddharth Srivastava
Patient Story Chelsea - Cowden Syndrome.
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