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研究生：	楊禮旗 Elvis Li-Chi Yang
論文名稱：	普拉德─威利症候群之概念系統：中文的個案研究 A Conceptual System in Prader-Willi Syndrome: A Case Study in Chinese
指導教授：	詹曉蕙 Chan, Shiao-Hui
學位類別：	碩士 Master
系所名稱：	英語學系 Department of English
論文出版年：	2011
畢業學年度：	99
語文別：	英文
論文頁數：	180
中文關鍵詞：	普拉德—威利症候群、概念系統、分類階層結構、語義結構、原型效應、語義相關效應
英文關鍵詞：	Prader-Willi Syndrome (PWS), conceptual system, taxonomical hierarchical structure, semantic structure, prototypicality effects, semantic relatedness effects
論文種類：	學術論文
相關次數：	點閱：134 下載：12
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普拉德—威利症候群，主要與輕度和中度智能遲緩有關，是一種影響多重官能的先天性基因異常疾病，發生率是五千分之一到兩萬五千分之一。無論是非語言的認知功能，包含智力、記憶、視覺和聽覺的處理，抑或是語言方面如語音、音韻、構詞、句法、篇章，及語用上的缺陷，歷年來都有相當的研究與發表 (Butler et al, 2004; Cassidy et al, 2009; Conners et al, 2000)。在一次偶然的機會下，實驗者接觸到一位普拉德—威利症候群的病友(AH)，在和她的對談中，發現當她被問到晚餐吃甚麼菜時，她似乎只能回答「菜菜/青菜」這類的高階範疇概念 (superordinate)，至於下轄於「蔬菜(菜菜/青菜)」之基本層面概念(basic level)的詞彙就有命名上的困難。其無法表達基本層面概念詞彙遂成研究AH之概念系統(語義分類)的主要動機。在文獻中，相較於非語言認知以及語言上的功能，普拉德—威利症候群之概念系統似乎鮮少有學者進行探究。因此本研究旨在探究普拉德—威利症候群之概念系統，希望透過一連串的實驗作業了解此症候群之概念系統的運作模式，並試圖對上述AH所呈現出的語言障礙提出解釋。
本實驗的受試者除了AH這名普拉德—威利症候群之病友(實際年齡二十歲；心智年齡九歲)之外，亦招募了二十六位心智年齡相仿的三年級小學生作為對照組 (平均實際年齡九歲兩個月)。本實驗由三個線上作業組成。第一個作業是非語言作業，受試者需在三張圖片裡，挑出一張不屬於同一類別的項目；如斑馬、綿羊，和冰箱（前兩者屬於動物類，而「冰箱」屬於餐具廚具類）。第二個作業是多模組(multi-modal)的語言作業，在播放預錄的高階範疇(superordinate category)之音檔後（如「動物」），再以視覺呈現圖形（如「豹」），而受試者必須決定所呈現的圖檔是否屬於之前所播放的類別。在這項作業裡，實驗者操弄高階範疇之原型性(prototypicality)，包括核心(central)與邊緣(peripheral)兩大部分（例如「豹」與「蝸牛」在「動物」類裡分屬核心以及邊緣兩類）。第三個作業亦是一項多模組(multi-modal)的語言作業，在播放預錄的基本層面(basic level)詞彙之音檔後（如「貓」），再以視覺呈現圖形（如「貓」或「老鼠」），而受試者需在聽完音檔後分辨所呈現的圖形是否為如音檔所述之詞彙。在這項作業裡，實驗者操弄基本層面詞彙之語義相關性(semantic relatedness)，包括相關與不相關的項目（如「老鼠」與「貓」相關；「大象」與「貓」(較)不相關）。
本實驗的三項作業以縱的面向以及橫的面向剖析AH的概念系統:其縱面顯示於作業一與二之高階範疇和基本層面詞彙之間的分類階層結構(taxonomical hierarchy)，探究AH的語言以及非語言的語義分類(semantic categorization)，並探討此分類階層是否完整；而其橫面顯示於作業二與三之核心與邊緣項目以及語義相關與語義(較)不相關項目。本研究有數個重要發現。第一，AH 在作業一、二上的高錯誤率以及過長的反應時間，顯示出她的分類階層結構不完整。後續的質性研究要求AH對高階範疇下定義，結果顯示她對於語義概念的抽象化及類化能力不佳。例如她知道狗是動物，卻無法說明動物類是甚麼；而她對「家具類」、「武器類」等高階範疇並非有完全的理解和認識。至於作業二、三所操弄的原型效應與語義相關效應，在線上的實驗程序中，對於對照組來說都有其效應產生，但對於 AH 而言，因為其錯誤率過高，沒有具代表性的數據可以顯示在她的概念系統也有原型效應的存在。儘管原型效應在線上的實驗程序中對AH 而言不能得知，但隨後的質性研究證實了原型效應確實有其影響性；例如，她知道狗和蝸牛都是動物，但是在決定蝸牛是否為動物時其考慮時間比決定狗的時間長。至於其語義相關效應，線上實驗結果顯示，相較於對照組而言，此效應在 AH 的概念系統中顯得相當薄弱不明顯。總體而言，由本實驗的結果可以得知 AH 的分類階層結構不甚完整；此外原型效應在她的概念系統/分類能力具有影響力，但其語義相關效應的影響就不如正常受試者來得明顯。
本研究是國內第一個有關普拉德—威利症候群概念系統的個案研究；此研究結合了語言學，心理學以及認知科學等相關領域；希望藉由此研究的發現開啟日後對普拉德—威利症候群概念系統或語言障礙上的廣泛及深入探討，並於心理語言學及罕見疾病特殊教育上有所貢獻。

Prader-Will Syndrome (PWS), mainly associated with mild to moderate mental retardation, is a multiple genetic anomaly disorder affecting multiple body systems, with an incidence estimated at 1:5000 to 1:25000. Deficits in non-language cognitive functions, including intelligence, memory, visual and auditory processing, and disruptions in language-specific functions, such as phonetics, phonology, morphology, syntax, discourse, and pragmatics have been investigated and reported (Butler et al, 2004; Cassidy et al, 2009; Conners et al, 2000). During a chat with a PWS patient (AH), it was observed that she had difficulties naming/specifying the types of vegetables (basic level exemplars) that she ate for dinner and could only give the superordinate term “VEGETABLE” as a response. Her disability of specifying the basic level exemplars under a superordinate category was a motivation for the conduction of a study about AH’s conceptual system (semantic categorization).The non-language (non-verbal) cognitive and language functions in PWS have received a certain level of attention, but there seems not much, if any, study dedicated to investigating the conceptual system in PWS individuals. Therefore, this study aims to empirically explore the operation of conceptual system in PWS and to give reasonable accounts of AH’s aforementioned language disruptions.
A PWS patient/AH (Chronological age: 20/Mental age: 9) and twenty-six mental-age-matched normal controls (Mean Chronological age: 9;2) were recruited for the online experiment. The experiment consisted of three online tasks: Task One was the Exclusion Task, in which the subjects were presented with three coterminous items on the computer screen and had to exclude one item that did not belong to the same superordinate category as the other two. For example, in the list of “zebra”, “sheep” and “refrigerator”, the former two were within the category of “ANIMAL”, and “refrigerator” was under “CUTLERY AND KITCHEN UTENSIL” and thus should be excluded. Task Two was the multi-modal Prototype Task. Subjects were first presented with an auditory superordinate category (e.g. “ANIMAL”), and then a picture (e.g. “leopard” or “snail”) was presented visually, which subjects had to judge if the picture belonged to the category they had just heard. The factor of
prototypicality was manipulated so that the experimental trials included either central or peripheral exemplars of the named category (such as “leopard” as central and “snail” as peripheral exemplars for “ANIMAL”, respectively). Task Three was the multi-modal Semantic Relatedness Task. The subjects were first presented with an auditory basic level category, and then a visual picture was presented. They had to judge if the picture was the basic level category that they had just heard. The factor of semantic relatedness was manipulated in this task so that the experimental trials included both related and unrelated items (e.g. “rat” was related and “elephant” was unrelated to the basic level category, “cat”). The three experimental tasks were to explore the vertical and horizontal aspects of AH’s conceptual system. For the vertical part, Tasks One and Two examined the verbal and non-verbal semantic categorization of AH, and at the same time investigated the preservation (intactness) of taxonomical hierarchy between superordinate and basic level categories in AH. On the other hand, the horizontal aspect lay in the prototypicality (central vs. peripheral) of exemplars within/under superordinate categories and in the semantic relatedness (related vs. unrelated) between basic level categories.
Several significant results were found. First, AH’s higher error rates and longer response times in Tasks One and Two revealed that her taxonomical hierarchical structure was incomplete/partially preserved, mainly due to her lack of knowledge in some superordinate categories, such as “FURNITURE”, and “WEAPON”. In a follow-up interview, AH’s obstructive definitions of the superordinate categories, further evidenced her deficiencies in abstraction and generalization (e.g. she could name “dog” as an animal, but failed to define “ANIMAL”). Also, prototypicality was effective in the normal controls, but the high error rates in AH made her data not eligible for statistical analysis. However, the follow-up interview revealed that the prototypicality effect was indeed effective; for example, more time was consumed in her deciding if “snail” was “ANIMAL” than deciding if “dog” was “ANIMAL.” Semantic relatedness was also effective in the normal controls, but marginal (not as evident) in AH. In sum, compared to the normals, AH was reported to possess incomplete semantic structure (taxonomical hierarchy), to have prototypicality effects in her categorization, and to have marginal semantic relatedness effects in her recognition.
This study, interfacing with linguistics, psychology and cognitive science, is the first case study in Taiwan that dealt with the conceptual system in Prader-Willi Syndrome. It is sincerely hoped that the results of this study can open up broader and deeper investigation of this disease, either about its conceptual system (semantic structure) or about its general language dysfunctions. It is also hoped that this study can make some contributions to psycholinguistics and special education on patients of this rare genetic disease.

TABLE OF CONTENTS
CHINESE ABSTRACT ......................................... i
ENGLISH ABSTRACT .........................................iv
ACKNOWLEDGEMENTS ........................................vii
TABLE OF CONTENTS .........................................x
LIST OF TABLES .........................................xiii
LIST OF FIGURES .........................................xiv
Chapter One Introduction ..................................1
1.1 Motivation ............................................1
1.2 Research Questions ....................................5
1.3 Significance of the Study .............................6
1.4 Organization of the Thesis ............................7
Chapter Two Literature Review .............................8
2.1 General Background of Prader-Willi Syndrome ...........8
2.2 Non-verbal Cognitive Functions in PWS.................10
2.2.1 Intelligence........................................10
2.2.2 Memory .............................................11
2.2.3 Visual and Auditory Processing......................12
2.2.4 Higher-order Processing.............................12
2.3 Language Functions in PWS ............................14
2.4 Conceptual System ....................................17
2.4.1 Ontology (Ontological Types) .......................18
2.4.2 Concept, Categorization, and Fuzzy Boundaries ......20
2.4.3 Internal Conceptual Structure and
Prototype/Prototypicality Effects.........................23
2.4.4 Internal Structure of Hierarchies and Basic-level Characteristics and Effects...............................26
2.4.5 Semantic Similarity/Relatedness.....................29
2.4.6 Taxonomic Hierarchy and Meronomic Hierarchy ........31
2.5. Summary of Chapter Two ..............................32
Chapter Three Methodology. ...............................33
3.1 Subjects .................................................33
3.2 Design and Materials .................................34
3.2.1 The Exclusion Task (Task 1) ........................35
3.2.2 The Prototype Task (Task 2) ........................36
3.2.3 The Semantic Relatedness Task (Task 3) .............40
3.2.4 Counterbalancing and Randomization of the Stimuli...45
3.2.5 Pilot Tests: Determination of Prototypicality and Semantic Relatedness......................................46
3.2.6 Follow-up Interviews with AH and a Normal Control...51
3.3 Procedure ............................................52
3.4 Data Analysis ........................................55
3.5 Summary of Chapter Three .............................56
Chapter Four Results .....................................57
4.1 Overall performance ..................................57
4.2 Prototypicality Effects...............................61
4.3 Semantic Relatedness Effects .........................66
4.4 Qualitative Research on AH............................67
4.4.1 Detailed Analysis on AH’s Responses in Tasks 1-3...68
4.4.2 Follow-up Interviews with AH and a Normal Control ..74
4.5 Summary of Chapter Four ..............................94
Chapter Five Discussion and Conclusion ...................96
5.1 Conceptual System of the PWS Patient .................96
5.1.1 Taxonomic Hierarchical Structure of AH .............98
5.1.2 Prototypicality Effects ...........................103
5.1.3 Semanticlatedness Effects .........................106
5.2 Limitations of the Present Study and Suggestions for Further Research ........................................110

References ..............................................112
Appendix I Prototypicality Pilot Test (Questionnaire A)..118
Appendix II Prototypicality Pilot Test (Questionnaire B).125
Appendix III Semantic Related Object Naming Pilot Test (Questionnaire A)....................................... 132
Appendix IV Semantic Related Object Naming Pilot Test (Questionnaire B) .......................................134
Appendix V Semantic Relatedness Degree Rating Pilot Test (Questionnaire A) .......................................136
Appendix VI Semantic Relatedness Degree Rating Pilot Test (Questionnaire B) .......................................145
Appendix VII Prototypicality and Semantic Relatedness ...155
Appendix VIII Stimuli Used in the Exclusion Task (Task 1)173
Appendix VIII Stimuli Used in the Prototype Task (Task 2)175
Appendix VIII Stimuli Used in the Semantic Relatedness Task (Task 3) ................................................177
Appendix IX Consent Sheet ...............................179
Appendix X Photos of the Online Experimental Process ....180

LIST OF TABLES
Table 2.1 Lexical Hierarchies According to Two Variables of Hierarchical Relation.....................................32
Table 3.1 A Summary of the Subjects ......................34
Table 3.2 Stimuli Used in the Prototype Task (Twenty-four Central and Twenty-four Peripheral Objects with Averaged Points) ................................................. 38
Table 3.3 Stimuli Used in the Semantic Relatedness Task (Twenty-four Identical Objects vs. their Corresponding Related and Unrelated Objects with Averaged Points).......41
Table 3.4 A Summary of the Three Experimental Tasks.......44
Table 3.5 A Summary of the Pilot Tests....................50
Table 3.6 A Counterbalance Table........................  55
Table 4.1 Error Rates (%) and Response Times (ms) of AH
and the Normal Controls...................................58
Table 4.2 Z-scores of Error Rates (%) [ER_Z-Score] and Response Times (ms)[RT_Z-Score] in AH.................... 59
Table 4.3 The Range of Error Rates (%) and Response Times (ms)in the Normal.........................................60
Table 4.4 The Error Rates of the Twenty-four Peripheral Objects in the Normal
Controls vs. the Rate of Zeros Given by Adult Raters (marked as Zero Given) in the Pilot Test..................62
Table 4.5 Paired t-tests of Error Rates (%) and Response Times (ms) in Tasks 2 & 3 for the Normal Controls and AH..65
Table 4.6 Comparison between Expected and Responded Answers in Task 1(13 errors)......................................68
Table 4.7 Twenty-four Central Objects and AH’s Responses in Task 2(12 errors)......................................71
Table 4.8 Twenty-four Peripheral Objects and AH’s Responses in Task 2(22 errors)............................72
Table 4.9 Twenty-four Identical Objects and AH’s Responses in Task 3(7 errors).......................................73
Table 4.10 Definitions of the Thirteen Superordinate Categories by AH and the
Normal Control, PJ........................................75
Table 4.11 AH’s Re-performance of Task 2.................89

Figure 2.1 Taxonomic Hierarchy of Three Different Levels of Specificity...............................................27
Figure 3.1 An Example Trial in the Exclusion Task.........36
Figure 3.2 An Example Set in the Prototype Task...........40
Figure 3.3 An Example Set in the Semantic Relatedness Task44
                                

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