In addition to cognitive impairments, neurodevelopmental disorders often result in sensory processing deficits. However, the biological mechanisms that underlie impaired sensory processing associated with neurodevelopmental disorders are generally understudied and poorly understood. We found that SYNGAP1 haploinsufficiency in humans, which causes a sporadic neurodevelopmental disorder defined by cognitive impairment, autistic features, and epilepsy, also leads to deficits in tactile-related sensory processing.
November 26, 2018 Nature Neuroscience
The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families,researchers, clinicians, and regulators
Feb 2, 2018 Journal of Neurodevelopmental Disorders
Comorbidities of Rare Epilepsies: Results from the Rare Epilepsy Network
Oct 2, 2018 The Journal of Pediatrics
This is a story of my son Beckett and his diagnostic odyssey. This is the real story behind finding a diagnosis to an Ultra Rare Disease, coping with the life of raising a child with special needs and dealing with all that entails it. From financial strain, marital problems, siblings and more. There are 7000 rare diseases. 1 in 10 Americans have a rare disease. 95% percent of those do not have an FDA approved treatment. This is my quest to find treatments for my son and ones like him to have a chance at a better quality of life.