Language, speech, and oromotor function in children with Pompe disease

Abstract

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.