Jeffrey L. Neul, MD, PhD - Encouraging News in Rett Syndrome: Steps Towards a Timely, Accurate Diagnosis and Treatment Breakthroughs


Manage episode 341927673 series 2857008
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Go online to to view the activity, download slides and practice aids, and complete the post-test to earn credit. In this activity, an expert in Rett syndrome discusses the diagnosis and management of this rare disease, as well as the latest data on emerging treatment options. A 3D animation offers an overview of MECP2 mutation, hypothesized to be a major contributor to the CNS manifestations of Rett syndrome. Upon completion of this activity, participants should be better able to: Apply diagnostic criteria to provide a timely diagnosis of Rett syndrome in infants demonstrating subtle signs and symptoms; Implement consensus recommendations on the age-specific management of patients with Rett syndrome; and Evaluate the evidence surrounding the safety, efficacy, and tolerability of emerging pharmacologic treatment options to consider implementing these novel therapies when they become available.

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