International Journal of Clinical Research

Angelman syndrome, also known as Angelman syndrome (AS), is a genetic disease caused by gene defects. This article elaborates on the diagnosis and treatment process of a patient with AS. The case has achieved certain therapeutic effects through comprehensive rehabilitation treatment. The treatment is mainly symptomatic treatment and rehabilitation training, and psychological support is given at the same time. Although the prognosis of AS is poor, timely diagnosis and treatment can improve the quality of life of children and improve their prognosis. Therefore, early diagnosis and comprehensive treatment are the key to improving the quality of life of AS patients. Since AS is a rare disease and is difficult to diagnose and treat, this study provides a reference for the clinical diagnosis and treatment of AS. At the same time, this article combines relevant literature to conduct a retrospective analysis of the pathogenesis, clinical manifestations, diagnostic methods, treatment strategies and research progress of AS, emphasizing the importance of early diagnosis and comprehensive rehabilitation treatment.

Angelman syndrome; Diagnosis and treatment experience; Gene defect; Rehabilitation training; Research progress