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題 名 | Neuropsychological Profiles of Three Cases of X-linked Adrenoleukodystrophy=性聯遺傳之腎上腺白質退化症在神經心理功能上之表現 |
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作 者 | 林希陶; 盧小蓉; 蘇淑貞; 胡務亮; 黃愛珠; 宋維村; | 書刊名 | 臨床心理學刊 |
卷 期 | 1:1 2004.06[民93.06] |
頁 次 | 頁67-75 |
分類號 | 415.84 |
關鍵詞 | 腎上腺白質退化症之兒童期腦葉亞型; 性聯遺傳疾病; 骨髓移植; CCALD; X-linked disease; Bone marrow transplantation; |
語 文 | 英文(English) |
中文摘要 | 目的:性聯遺傳之腎上腺白質退化症(X-linked adrenoleukodystrophy)是一種代謝異常疾病。其患者體內缺少非常長鏈飽和脂肪酸之酵素,而導致此脂肪酸不當堆積於腦與腎上腺之中,造成神經細胞去髓鞘化,進而妨害神經傳導。兒童期之腦葉亞型(childhood cerebral form)於十歲內開始發病。其疾病之進程進展快速,最終導致死亡或植物人狀態。目前的治療方式,大多屬於實驗階段,包括飲食控制、羅倫佐的油(Lorenzo's oil)與骨髓移植。本文報告三個個案在神經心理功能上的表現。 方法:三個個案被轉介至兒童精神科心理師,進行神經心理衡箭之評估。 結果:三個個案之疾病病程皆不相同。第一個個案症狀極少,只有在前葉功能有些微之問題。第二個個案雖然在聽覺知覺、空間功能、及牽涉空間能力之動作與視覺技巧有缺失,但其語言能力是正常的。第三個個案則在視覺空間能力、感覺動作能力、抽象思考能力上有顯著之缺失,但其閱讀功能是正常的。 結論:此臨床資料傾向,視覺功能缺失出現之後,疾病之病程速度可能因而加快,但此推論需大量長期追蹤之神經心理資料來加以佐證。在評估骨髓移植之合適性與有效性上,神經心理衡鑑扮演相當重要的角色。心理治療之介入應著重於家庭成員之支持,並對此嚴重之疾病,提供合適的資訊與處置。 |
英文摘要 | Objective: X-linked Adrenoleukodystrophy (X-ALD) is a metabolic diseasee characterized by accumulation of very long chain fatty acid (VLCFA) in the body and associated with demyelination. The childhood cerebral form of X-ALD (CCALD) has onset during the first decade of life. Disease progression is rapid and terminates in vegetative state or death. Dietary restriction plus Lorenzo's oil and bone marrow transplantation are potential treatments for CCALD. We describe the neuropsychological profiles of three children with CCALD. Method: Three cases at diferent degree of disease progression were recruited from the National Taiwan Universtiy Hospital. Results: The first case was asymptomatic but manifested subtle deficits in frontal functioning. The second case presented with impaired auditory perception, spatial deficit and related involvement of motor and visual skills, but with relatively intact verbal abilities. The third case presented with significant visuospatial, sensorimotor, and abstract reasoning deficits, but with relatively intact reading. Conclusion: From clinical information, it suspected that the rate of disease progression increased once visual processing deficits appear. However, this needs to be ascertained with longitudinal neuropsychological data documenting disease development. Neuropsycological evaluation plays an important role in the decision to pursue bone marrow transplantation. Psychological intervention should focus on supporting the family in dealing with this devastating disease. |
本系統中英文摘要資訊取自各篇刊載內容。