Diagnosis and treatment experience of Angelman syndrome patients and retrospective analysis
天使综合征患者诊疗体会及回顾性分析

摘要

天使综合征，又称安格曼综合征（Angelman syndrome，AS），是一种由基因缺陷引起的遗传性疾病。本文通过对1例AS患者的诊疗过程进行详细阐述，该病例经综合康复治疗取得了一定疗效，治疗主要以对症治疗和康复训练为主，同时给予心理支持。虽然AS的预后较差，但通过及时地诊断和治疗，可以提高患儿的生活质量，改善其预后。因而，早期诊断和综合治疗是提高AS患者生活质量的关键。由于AS是一种罕见病，诊断和治疗难度较大，本次研究为AS的临床诊断和治疗提供了参考。同时，本文结合相关文献，对AS的发病机制、临床表现、诊断方法、治疗策略及研究进展进行了回顾性分析，强调早期诊断和综合康复治疗的重要性。

Abstract

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.