[[alternative]]The Articulation and Speech Inteligibility in Children with Infantile Pompe Disease

[[abstract]]本研究主要為探討持續接受酵素補充療法的嬰兒型龐貝氏症兒童隨著疾病進程以及酵素補充療法的交互作用下，其構音及語音清晰度的發展，進一步了解酵素補充療法是否有助於口腔肌肉構音功能的表現。共收錄7位持續接受酵素治療的嬰兒型龐貝氏症兒童，3位男性以及4位女性，年齡分布範圍為36~52月，平均年齡43.29月(SD=5.18)。採取追蹤研究，每一年收集一次每位受試者的語音樣本，持續長達四年的時間。使用語音聽知覺方式評量每份語音樣本的鼻音過度、構音異常及語音清晰度。 研究結果顯示：所有受試者皆有鼻音過度的問題，並未隨著時間明顯進步或退步。大部分受試者構音異常為重度並且進步非常緩慢，少數受試者的構音發展符合同年齡兒童發展水準，與其即早接受酵素補充療法有關。鼻音過度以及構音正確性皆影響語音清晰度。因此建議嬰兒型龐貝氏症患者盡早接受酵素補充療法有助於口腔肌肉構音功能的維持或提升，並且需要長期持續追蹤其構音功能及語音清晰度。 本研究使用語音聽知覺方式評量，缺乏客觀性，建議未來研究可加入聲學分析等儀器加以客觀地評量。[[abstract]]This study investigated the development of articulation and speech intelligibility of the children with infantile Pompe disease, who was accepted enzyme therapy. In total, seven children with infantile Pompe disease and accepted enzyme therapy, were recruited in this study. The subjects were 3 males and 4 females. Age distribution in the range of 36 to 52 months, with an average age of 43.29 months (SD = 5.18). For panel study, the speech samples were collected once per year for each subject, and it was last up to four years. Hypernasality, articulation disorders, and speech intelligibility were evaluated by auditory perception. Results show that all subjects were suffered from hypernasality. It did not significantly improve or regress over time. Most of the subjects were suffered from severe articulation disoeder and the progress was very slow. In some of the subjects, articulation development was with normal range, and it was related to early acception of enzyme replacement thery. Speech intelligibility was affected by hypernasality and articulation disorder. Therefore, it was recommended to early accept of enzyme replacement thery and long-term fallow up of the children with infantile Pompe disease. In this study, using auditory perception assessment methods was not objectivily. It was suggested for future research instruments such as acoustic analysis for objection