- 期刊
- OpenAccess
唐氏症和Ｘ染色體脆析症的神經心理特徵與治療策略之探討
The Neuropsychological Phenotypes in Persons with Down's Syndrome and Fragile X
摘要
雖然唐氏症和X染色體脆折症的主要認知缺陷皆為智能障礙，兩者的神經心理表徵與治療策略卻不相同。個別而言，唐氏症者之認知優勢能力顯現於視覺資訊處理和程序性記憶。而執行功能、語文短期記憶與表達性語言，如語彙、造句、說話清晰度等則屬於認知弱勢能力。唐氏症者的學習應儘量以簡單；實際的視覺資訊為主，避免複雜的口語指令。至於X染色體脆折症，其認知功能有性別差異。男性X染色體脆折症者在10 -15歲之前，智商的發展穩定，但15歲後心智年齡到達高原期，而後智商會隨者年齡而下降。認知優勢能力表現於整體性的資料處理。相反的，認知弱勢能力是在於數學、聽覺短期記憶與順序性的資料處理。女性 X染色體脆折症者如果有完全的基因突變，其智商大約是低於平均智商的範園(IQ=81-89)，而準突變基因的女性之智商都是在正常範圍。語文記憶是優勢能力，但執行功能與非語文的學習則是認知弱勢能力所在。綜合而論，在學習新的事物時，應該要先整體性的讓X染色體脆折症者了解活動的內容；意義及目的，然後才解說或執行細節的步驟。唐氏症和X染色體脆折症的神經解剖結構異常之處同是位於海馬回和小腦。文末也建議未來的研究方向。
並列摘要
Although the major cognitive deficit in relation to both Down's syndrome and Fragile X syndrome is a lower level of intelligence, each has a unique profile of neuropsychological manifestations and learning processes. For individuals with Down's syndrome, cognitive strengths are associated with visual information processing and procedural memory, whereas cognitive weaknesses are related to executive functioning, verbal short-term memory as well as expressive language, such as vocabulary, syntax, and intelligibility. The learning strategy that can fit in with the strong cognitive skills and to compensate as much as possible the less effective forms of information processing is to learn through simple and concrete visual information, avoiding complex verbal directions. In fragile X syndrome, there exists striking gender differences. Males with fragile X syndrome show a stable IQ until age 10-15 years, after which time IQ scores decline. Males perform better in the tasks of simultaneous information processing, whereas relative weakness is corresponded with mathematics, auditory short-term memory, in concert with sequential processing. Females with the full mutation tend to have mean IQs that fall in the low average range (mean=81- 89), while the unaffected carriers with pre-mutation perform at the population mean. Cognitive strength is characterized by verbal memory while executive function and nonverbal tasks are deemed as cognitive weaknesses. In terms of learning style, it is imperative to explicitly state the practical function of a task and to make information significant and meaningful to the persons with fragile X syndrome before entering into details. The neuroanatomical abnormalities common to both Down's syndrome and fragile X syndrome are in the hippocampus and cerebellum. Recommendations for future research are provided.