- 期刊
威廉氏症候群在早期物理治療介入兼以ICF模組呈現個案之活動及參與情形：病例報告
Early Physical Therapy Intervention for a Child with Williams-Beuren's Syndrome and Presenting with ICF Model for Individual Activity and Participation: A Case Report
摘要
威廉氏症候群（Williams-Beuren's syndrome）是一染色體疾病，為第七對染色體的長臂（deletion 7q11.23）缺失，而導致一個或多個基因功能異常，其中以彈力蛋白（elastin）基因與先天性心臟病等臨床症狀有關。常伴隨心血管疾病、臉部異常、牙齒問題、智力與認知發展遲緩、空間認知及動作發展的能力不佳。然而粗大動作之表現較少為學者注意，因此，本篇病例報告除了描述治療之經驗外，也強調粗大動作在早期療育介入後所看到之成效。此經過早期介入之威廉氏症兒童，自7個月大時經早期療育評估後即開始接受療育，經過20個月的訓練後，個案在動作功能方面皆有進步，改善其生活功能，也增進親子間的關係互動，因此早期療育介入可改善遲緩兒童的動作功能，提升日常生活活動上的獨立並增進人際社交互動，也可增加兒童及家長間良好的親子關係。
並列摘要
Williams-Beuren's syndrome (W-B syndrome) is one of the genetic diseases, often comes with cardiovascular disease, abnormality of facial and teeth structure, poor motor control, delayed development of cognition and spatial sense. Here we present one child with W-B syndrome who underwent early intervention since she was 7 months old. After 20-month training, the child has made impressive progress in motor function and abilities of carrying ADL. Furthermore, by giving the parents instructions and guidelines for home programs, the relationship between the child and her parents also improved a lot. As the matter of fact, this case report showed that the early intervention on child with W-B syndrome would benefit in motor function, independence of daily life, good interaction of child and parents and social performance.
延伸閱讀
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