Alexandra Santana Almansa, Dustin L Gable, Zoë Frazier, Abigail Sveden, Aisling Quinlan, Maya Chopra, Sara A Lewis, Michael Kruer, Annapurna Poduri, Siddharth Srivastava
OBJECTIVE: Evaluation of the clinical utility of a genetic diagnosis in CP remains limited. We aimed to characterize the clinical utility of a genetic diagnosis by exome sequencing (ES) in patients with CP and related motor disorders. METHODS: We enrolled participants with CP and "CP masquerading" conditions in an institutional ES initiative. In those with genetic diagnoses who had clinical visits to discuss results, we retrospectively reviewed medical charts, evaluating recommendations based on the genetic diagnosis pertaining to medication intervention, surveillance initiation, variant-specific testing, and patient education...
January 2, 2024: Annals of Clinical and Translational Neurology