病例報告：跨專業早期介入於先天性全身脂肪失養症個案之成效

Case Report: The Effect of Early Transdisciplinary Intervention on a Case of Congenital Generalized Lipodystrophy

蔡昕妤(Hsin-Yu Tsai) ； 葉采青(Tsai-Ching Yeh) ； 郭穠榛(Nung-Chen Kuo) ； 胡佳妗(Chia-Chin Hu) ； 翁郁雯(Yu-Wen Weng) ； 林琬鈞(Won-Jean Lin)

《物理治療》 45卷4期 (2020/12) Pp. 279-287

https://doi.org/10.6215/FJPT.202012_45(4).0004

摘要

此病例報告為一第二型先天性全身脂肪失養症的個案，旨在呈現此類型個案的早期介入成效，其介入內容包含早期物理治療介入、專業間早期介入及聯合評估後進入跨專業服務模式之早期療育門診給付改善方案，建立以家庭為中心的整合性照護模式。由個案1.5個月大時開始介入到目前2歲9個月大，此個案在整體動作能力、認知能力及語言能力皆有成效，生理生化檢查數據亦大多在正常範圍內。惟此類型個案於國內探討復健介入成效之文獻目前僅有一篇臨床實務經驗，未來仍需更多文獻研究進一步探討。

關鍵字

先天性全身脂肪失養症 ； 早期介入 ； 早期物理治療介入 ； 早期介入成效

並列摘要

This is a case report on type II congenital generalized lipodystrophy. The outcome of the early intervention is presented. Said interventions involved early physical therapy and interdisciplinary intervention; in addition, after joint evaluation, family-centered early integrated care model under the transdisciplinary service model was also involved. The intervention measures were performed from when the case patient was 1.5 months old to when he was 2 years and 9 months old. The overall motor, cognitive, and language abilities of the case patient have improved significantly, and most of the physiological and biochemical examination data have been within the normal range. Because other than the present study, Taiwan has only one clinical practical paper in regards with rehabilitation intervention, additional studies are required for further research in this topic.

並列關鍵字

Congenital generalized lipodystrophy ； Early intervention ； Early physical therapy intervention ； Effect of early intervention