RETT SYNDROME

Course overview

RETT SYNDROME (RTT) IS A NEURODEVELOPMENTAL DISORDER THAT SHOULD BE CONSIDERED IN A CHILD WHO DEMONSTRATES REGRESSION IN PREVIOUSLY ACQUIRED SKILLS AFTER A PERIOD OF NORMAL DEVELOPMENT. RTT CAN PRESENT WITH A BROAD ARRAY OF SYMPTOMS. A FEW OF THESE INCLUDE DECELERATION IN HEAD GROWTH, GAIT ABNORMALITIES, LOSS OF PURPOSEFUL HAND MOVEMENTS, WHICH ARE OFTEN REPLACED WITH REPETITIVE STEREOTYPICAL MOVEMENTS SUCH AS HAND-WRINGING, LOSS OF SPEECH AND BREATHING ABNORMALITIES. ALTHOUGH RTT WAS ONCE THOUGHT TO OCCUR EXCLUSIVELY IN FEMALES, MALES WITH THE PHENOTYPE AND MECP2 MUTATIONS ARE NOW BEING DEFINED. THIS ACTIVITY DESCRIBES THE EVALUATION, DIAGNOSIS, AND MANAGEMENT OF RETT SYNDROME AND STRESSES THE ROLE OF TEAM-BASED INTERPROFESSIONAL CARE FOR AFFECTED PATIENTS.