Treating Hypernasal Speech in Children with Infantile-Onset Pompe Disease: Effectiveness of Continuous Positive Airway Pressure

Abstract Children with infantile-onset Pompe disease (IOPD) demonstrate hypernasality. This study aimed to evaluate whether continuous positive airway pressure (CPAP) training, effective in reducing hypernasality in subjects with velopharyngeal insufficiency, may reduce hypernasality in children with IOPD. Five children with IOPD were enrolled to partake in an 8-week, 6-day-per-week regimen of CPAP training at home, involving 8 week baseline, 8 week CPAP training, and 8 week follow-up outcome assessment combined with regular speech therapy once per week. The outcomes included the degree of hypernasality (DH), the percentage of consonants correct (PCC), and the speech intelligibility score (SIS). C-statistic analysis with an α of .05 (z ≥ 1.645) and visual analysis were used to assess speech changes. Three patients completed the study. During the CPAP training phase, the DH, PCC, and SIS were significantly improved compared with the baseline (p ≤ .05). At the follow-up phase, both DH and SIS were improved compared with the baseline (p ≤ .05), but the PCC had returned to the baseline level (p ≥ .05). CPAP training demonstrated effectiveness in reducing nasal sounds in IOPD patients. Further studies involving training younger children with normal hearing may help elucidate the persistence of the effects in children with IOPD.