雷特氏症患者在醫療保健、動作機能和社會溝通三方面可能造成的影響與介入策略

Abstract

國內有關雷特氏症（Rett syndrome）之研究闕如，其先天罕見的基因突變，使發展階段一至四期，從早發期、急速退化期、假性高原期及運動惡化後期。有先進步在後退化的特殊性，使醫療、動作、社會溝通功能需求上讓照顧者無從所適。本文所闡述的醫療、動作發展、社交溝通的三個觀點及歸納相互的影響，作為雷特氏症的研究者及臨床工作者之未來建議。

In Taiwan, studies of Rett Syndrome are still scant and under-researched. This rare Syndrome of genetic mutation results in its special four developmental stages: early onset, rapid destructive stage, pseudo-stationary, and late motor deterioration. What is unusual about this condition is its tendency toward improvement in its early stages, but rapid regression afterward. The unique representation of symptoms makes caregivers bewildered as to how to meet patients’ needs for medical health care, motor development and social communication. The present study was designed to address the impact of the above three perspectives and intervention strategies in people with Rett Syndrome. Future challenges and recommendations are included as well.