Terapia logopedică- abordare longitudinală în contextul sindromului Smith – Magenis (SMS). Studiu de caz

This report examines the longitudinal speech therapy approach for Smith-Magenis Syndrome (SMS), a rare genetic disorder caused by RAI1 gene deletion/mutation (17p11.2). SMS impacts cognition, behavior, sleep, and motor functions, requiring a multidisciplinary intervention.
The case study of M., a 7-year-old girl, highlights significant articulation, literacy, and emotional progress through targeted speech therapy, motor training, and cognitive support. Despite persistent writing and pronunciation challenges, therapy improved communication, academic performance, and self-confidence. The findings stress the importance of early and structured intervention for SMS patients.