Parents'' attitude toward screening for late-onset diseases-A study of Fabry disease

研究背景:串聯質譜儀篩檢技術迅速發展，使得許多代謝性疾病在新生兒篩檢被偵測出來。法布瑞氏症新生兒篩檢先導計畫目前已經開始進行，法布瑞氏症是晚發性疾病，其篩檢方法和現有之篩檢項目有比較大的不同。研究目的：本研究想探討父母對布瑞氏症的了解情形，從中了解父母接受預測性檢測的意願、以及新生兒篩檢結果可能帶給對父母產生的心理影響，未來在新生兒篩檢前提供適當的遺傳諮詢以及訊息。研究方法：研究對象來源主要來自新生兒篩檢室提供的名單和基因醫學部門診病人，符合研究調查之條件進行自填式問卷、郵寄問卷或採取電話訪談方式進行資料收集，收案人數共有76 份。研究對象分為接受新生兒法布瑞氏症篩檢需複檢之父母親為本研究之實驗組，蠶豆症需複檢之父母親為對照組。究結果：父母接到電話通知小孩新生兒篩檢需要複檢時，大多感受到中等或很大的壓力，情緒反應大多呈現震驚和焦慮。實驗組接受法布瑞氏症遺傳諮詢有76%，接受遺傳諮詢對法布瑞氏症的了解顯著高於未接受遺傳諮詢的受試者。實驗組對法布瑞氏症的了解顯著高於對照組。兩組新生兒晚發性預測性檢測的認知程度則無統計上差異。如果疾病可經治療或預防會有更好的預後，實驗組有88%同意接受讓小孩接受預測性檢測；對照組則有85%同意。如果預測性檢測準確度只有50%，57%實驗組同意接受；對照組有78%願意接受。實驗組有76%願意考慮讓小孩接受糖尿病、高血壓等多因子的疾病檢測; 對照組則有63%願意接受。對於不可治療的晚發性亨丁頓氏症舞蹈症，61%實驗組會接受預測性檢測；56%對照組也願意接受檢測。結論：研究對象在得知新生兒需要進行法布瑞氏症複檢時比需要蠶豆症複檢在情緒上產生較高的震驚和焦慮，並感受到較大的壓力。實驗組對法布瑞氏症的了解則高於對照組。接受過遺傳諮詢對法布瑞氏症的了解高於未接受遺傳諮詢的受試者。可見遺傳諮詢的重要性，可以協助父母親對新生兒篩檢的了解。在未來的諮詢發展遺傳諮詢的需求和法布瑞氏症知識的宣導是不可輕忽的。Background: The development of Tandem Mass Spectrometry has just increased dramatically the number of diseases that can detected by newborn screening, but now new tests including Fabry disease are starting. Fabry disease is different from other diseases targeted by newborn screening that it is a late-onset disease. Therefore, it would be important to know the attitudes of the parents toward Fabry disease. Purposes: In this study we want to assess parents’ knowledge about Fabry screening, and their reaction to a positive screening result. Methods: A questionnaire would be filling in through mail-in survey, face to face interview, or by telephone. Each participant took 20 minutes to fill out the questionnaire completely. Questions included demographic variables, psychological consequences, knowledge of Fabry disease and late-onset predictive, and attitude towards predictive testing. Two groups’ subjects were recruited. The experiment group was the parents whose children received Fabry disease newborn screening; the control group was the parents whose children received G6PD newborn screening. A total of 76 subjects were enrolled in this study. Results: 76 questionnaires were analyzed by SPSS 12.0. Most of parents felt moderated or severe pressure when the hospital informed them to repeat the newborn screening test because the false- positive result. Parents often appeared shock and anxiety in both participant groups. 76% of parents in the experiment group had received genetic counseling. The knowledge about Fabry disease was better in the experiment group than in the control group. 88% of parents in the experiment group agreed to do the predictive test for their children if the disease has good prognosis after treatment, while 85% in the control group agreed. 57% of parents in the experiment group agreed to do the predictive testing even the detection rate was 50%, while 78% in the control group agreed. 76% in the experiment group agreed to do the genetic testing for multiple factorial diseases, while 63% in the control group agreed. 61% in the experiment group agreed to do the predictive test for untreatable disease such as Huntington disease, while 56% in the control group agreed. Conclusions: There’s a significant difference between the two groups in the knowledge of Fabry disease. Among the emotional responses, shock and anxiety were higher upon a positive screening result for Fabry disease and the Fabry disease of pressure was also high. It appeared that genetic counseling was important for the parents to understand newborn screening. Subjects who had received counseling had better knowledge in the Fabry disease than subjects who didn’t receive counseling. The needs for counseling and knowledge about Fabry disease should not be neglected in the development of the screening program.eywords: Fabry disease, False-positive, late-onset disease, Predictive test.致謝 ………………………………………………………………………………..4文摘要 …………………………………………………………………………..5文摘要 …………………………………………………………………………..6一章 緒論 ………………………………………………………………………8 第一節 研究背景和動機 ……………………………………………………8二章 文獻探討 ………………………………………………………………..10 第一節 新生兒篩檢 ………………………………………………………..10 第二節 法布瑞氏症 ………………………………………………………..15 第三節 民眾對預測性檢測態度及檢測過程中的心理反應 ……………..20 第四節 名詞界定……………………………………………………………23三章 研究架構和研究假設 …………………………………………………..24 第一節 研究目的 …………………………………………………………..24 第二節 研究架構 …………………………………………………………..25 第三節 研究假設……………………………………………………………26四章 研究方法 ………………………………………………………………..27 第一節 研究對象 …………………………………………………………..27 第二節 研究工具 …………………………………………………………..28 第三節 研究倫理 …………………………………………………………..31 第四節 研究收案期間 ……………………………………………………..31 第五節 資料分析 ….. ……………………………………………………...32五章 研究結果 ….……………………………………………………….…..33 第一節 基本屬性之描述 …………………………………………………..33 第二節 新生兒篩檢結果之情緒反應及感受到的壓力分析 ……………..38 第三節 法布瑞氏症的了解之分析 ………………………………………..50 第四節 新生兒篩檢預測性檢測認知與行為之分析 ……………………..55六章 討論 ……………………………………………………………………..60 第一節 基本屬性探討 ……………………………………………………..60 第二節 新生兒篩檢結果的情緒反應探討 ..…………………………… ...61 第三節 新生兒篩檢需要複檢感受到的壓力探討 .……………………….63 第四節 法布瑞氏症的了解之探討 ………………………………………..65 第五節 遺傳諮詢與法布瑞氏症、新生兒篩檢預測性檢測的認知影響 ..67七章 建議…….……………………………………………………………….. 68八章 研究限制 ……….……………………………………………………….69件一 ……………………………………………………………………………70件二 ……………………………………………………………………………71件三 ……………………………………………………………………………72考文獻 ………………………………………………………………………8