Advances in the treatment of Pompe disease have improved life expectancy and quality of life, but speech and oromotor function remain significantly affected. The purpose of this study was to expand on existing data and present new findings of speech acoustic and physiologic outcomes in Pompe disease. A retrospective analysis was carried out on results of speech, language and oromotor tests carried out in 14 children diagnosed with Pompe disease. The assessment battery included standardized tests of language, picture naming, maximum performance tests, and oromotor resistance tasks. Speech production was scored with respect to intelligibility, hypernasality, and articulatory accuracy. Language delays ranged from mild to severe in 1/3 of the children. Reduced speech intelligibility, disordered articulation, and hypernasality were present in at least 2/3 of the children. Maximum performance tests all fell at least 1 SD below normative means. Significant correlations were identified between maximum phonation time and articulation and between the S/Z ratio and intelligibility. Positive correlations were also found between tongue strength and articulation. Results confirm previous reports of speech and language function in Pompe disease. Clinical acoustic measures provide important insights into the speech deficits in this group of children and suggest possible treatment strategies.

中文翻译：

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庞贝病儿童的语言、言语和口部运动功能

庞贝病治疗的进步提高了预期寿命和生活质量，但言语和口部运动功能仍然受到显着影响。本研究的目的是扩展现有数据并展示庞贝病的语音声学和生理结果的新发现。对 14 名被诊断患有庞贝病的儿童进行的言语、语言和口部运动测试结果进行了回顾性分析。评估组合包括语言、图片命名、最大性能测试和口腔运动阻力任务的标准化测试。语音生成根据可懂度、鼻音过度和发音准确度进行评分。1/3 的儿童语言发育迟缓从轻微到严重不等。语言清晰度降低，发音紊乱，至少 2/3 的儿童出现鼻音亢进。最大性能测试均至少比规范平均值低 1 个标准差。在最大发声时间和清晰度之间以及在 S/Z 比和可懂度之间确定了显着的相关性。在舌头强度和发音之间也发现了正相关。结果证实了先前关于庞贝病的言语和语言功能的报告。临床声学测量为这组儿童的言语缺陷提供了重要的见解，并提出了可能的治疗策略。在舌头强度和发音之间也发现了正相关。结果证实了先前关于庞贝病的言语和语言功能的报告。临床声学测量为这组儿童的言语缺陷提供了重要的见解，并提出了可能的治疗策略。在舌头强度和发音之间也发现了正相关。结果证实了先前关于庞贝病的言语和语言功能的报告。临床声学测量为这组儿童的言语缺陷提供了重要的见解，并提出了可能的治疗策略。