2021-01-012024-05-17https://scholars.lib.ntu.edu.tw/handle/123456789/672227雷特氏症(Rett Syndrome；簡稱RTT)為X染色體性聯遺傳異常的神經發展疾病，臨床症狀起始於嬰幼兒時期發生認知、動作與社會溝通之發展障礙，其重複且特異的行為特徵與自閉症類群障礙患者相似，臺灣至今仍缺乏全面瞭解雷特氏症患者的神經發展進程。雷特氏症患者一般會經歷四個發展退化階段，其中第三階段起始於年齡2-10歲間，為神經發展為最穩定的時期，亦是亟需積極復健介入與提升身體功能的重要階段，以延緩第四階段的整體動作功能喪失，然而過去極少研究針對第三階段RTT患者評估其神經發展、適應行為與生活功能，以及探討年齡的增加及其症狀的嚴重程度與患者多元神經發展的關聯性。此外，由於RTT患者的存活率逐漸提高，患者的自我照顧獨立程度與瞭解照顧者對其生活的協助需求，並發展適切的復健治療計畫是亟需被關切的議題。近期的研究顯示持續的日常身體活動訓練以及應用音樂治療的引導模式，有助於增進RTT患者的動作與社交互動技能，然而過去研究並無針對第三階段穩定期的患者設計合適其神經發展的介入計畫。因此，本研究的目的為(1)針對18歲以內且為第三階段發展的RTT患者，探索其高與低年齡患者在多元神經發展發展上的異同，並探討症狀嚴重程度對患者神經發展與整體適應行為及生活功能的影響；(2)擬對RTT患者設計音樂與節律引導的動作介入計畫，探討此介入計畫對於患者的動作、行為與社會溝通發展之效益。本計畫將招募40位年齡18歲以內且為第三階段的RTT患者參與計畫，患者將分配到治療或比較組，治療組將接受共12週的介入計畫，計畫包含指導RTT患者及其照顧者學習神經發展促進與行為改變的技巧，以及進行音樂與節律動作訓練。比較組的照顧者將接受兒童發展的衛教與電話追蹤。此計畫擬建立有實證基礎的介入模式，使RTT患者增進動作、行為與社會溝通功能，期望能提升其生活自理的獨立程度，使其盡可能增進生活品質與降低照顧者的照顧負荷。 Rett Syndrome (RTT) is a neurodevelopmental disease with X-chromosome sex-linked genetic abnormalities. The clinical features of individuals with RTT are cognitive, motor, and social communication disorders in infants and young children, and its behavioral signs of restrictive and repetitive behaviors are very similar to Autism Spectrum Disorders. To date, it still lacks a comprehensive understanding of the neurodevelopmental progression of RTT patients in Taiwan. Individuals with RTT commonly go through four stages of neurodevelopment and regression. During the regression phases, the third stage (Stage III) starts between 2-10 years of age, which is the most stable period of symptoms and neurodevelopment. Although Stage III is rather stable throughout the entire RTT developments, Stage III may either last for the entire lifespan or develop into the next stage in which children with RTT might lose all of their physical mobility. Therefore, it is a pressing need for designing appropriate rehabilitation interventions for RTT patients at Stage III to help improve their physical and daily functioning. However, in the past, few studies have evaluated the overall neurodevelopment and adaptive behavioral functioning of patients at Stage III, and have explored the relationship between age and the severity of symptoms and multidimensional functioning. In addition, since the rises of survival rate of individuals of RTT, it is also necessary to have a comprehensive understanding of the caregivers` assistance to their lives and develop appropriate rehabilitation interventions that could be conducted at home or community. Recent studies have shown that continuous daily physical activity training and contextual guidance using music rhythms and cueing can help improve the movement and social interaction capabilities of individuals with RTT. However, there is no standardized intervention models and procedures, and specifically for the patients at Stage III is scarce. Therefore, the purposes of this study is to (1) explore the multidimensional neurodevelopment of children with RTT under 18 years of age and at Stage III, and to examine the impact of ages and symptom severity on the overall neurodevelopment and functioning; (2) it is proposed to design a rehabilitation intervention program for children with RTT with music and rhythmic movement training model, and to explore the benefits of this intervention program for their motor, behavioral and social communication developments. This study plan to recruit 40 children with RTT who will be assigned to the treatment or comparison groups. The treatment group will receive a 12-week intervention program. The program includes training children with RTT and educating their caregivers about development and behavioral intervention techniques and receive music and rhythmic movement intervention. Caregivers in the RTT comparison group will receive general health education teaching and telephone tracking. This study intends to establish an evidence-based RTT intervention to enable children with RTT to increase their neurodevelopment, behaviors and socio-communicative functioning and the degree of independence of self-care ability, so as to improve the quality of life as much as possible and reduce the stress and caring stress of caregivers.雷特氏症介入神經發展動作效益Rett SyndromeInterventionNeurodevelopmentMotorEffectiveness