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

Area of Science:

• Neurology
• Speech-Language Pathology

Background:

• Pompe disease treatments improve survival but not oromotor and speech functions.
• Speech and oromotor impairments significantly impact quality of life in affected children.

Purpose of the Study:

• To present new acoustic and physiologic speech outcomes in pediatric Pompe disease.
• To expand on existing data regarding speech and oromotor function in this population.

Main Methods:

• Retrospective analysis of speech, language, and oromotor test results from 14 children with Pompe disease.
• Utilized standardized language tests, picture naming, maximum performance tests, and oromotor resistance tasks.
• Assessed speech production for intelligibility, hypernasality, and articulatory accuracy.

Main Results:

• Language delays affected one-third of children; reduced intelligibility, articulation, and hypernasality were present in at least two-thirds.
• Maximum performance tests were significantly below normative means (≥1 SD).
• Correlations found between maximum phonation time and articulation, S/Z ratio and intelligibility, and tongue strength and articulation.

Conclusions:

• Findings confirm previous reports on speech and language deficits in pediatric Pompe disease.
• Clinical acoustic measures offer critical insights into speech impairments.
• Results suggest potential avenues for targeted treatment strategies.