A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease.

Children with infantile-onset Pompe disease (IOPD) demonstrate hypernasality. This study aimed to evaluate whether continuous positive airway pressure (CPAP) training may reduce hypernasality in children with IOPD. Five children with IOPD were enrolled in a single-subject experimental design of type A-B-A'. The intervention comprised an 8-week, 6-day-per-week regimen of CPAP training at home. Participants continued traditional speech therapy once per week throughout the 24-week study duration. The outcome measurements 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 0.05 was used along with visual analysis 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 < 0.05). At the follow-up phase, both DH and SIS were improved compared with the baseline (p < 0.05), but the PCC had returned to the baseline level. CPAP training demonstrated effectiveness in reducing nasal sounds in IOPD patients. Further studies training younger children with normal hearing may help elucidate the persistence of the effects in children with IOPD.

Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease.

BACKGROUND: Patients with infantile-onset Pompe disease (IOPD) can be treated by recombinant human acid alpha glucosidase (rhGAA) replacement beginning at birth with excellent survival rates, but they still commonly present with speech disorders. This study investigated the progress of speech disorders in these early-treated patients and ascertained the relationship with treatments. METHODS: Speech disorders, including hypernasal resonance, articulation disorders, and speech intelligibility, were scored by speech-language pathologists using auditory perception in seven early-treated patients over a period of 6 years. Statistical analysis of the first and last evaluations of the patients was performed with the Wilcoxon signed-rank test. RESULTS: A total of 29 speech samples were analyzed. All the patients suffered from hypernasality, articulation disorder, and impairment in speech intelligibility at the age of 3 years. The conditions were stable, and 2 patients developed normal or near normal speech during follow-up. Speech therapy and a high dose of rhGAA appeared to improve articulation in 6 of the 7 patients (86%, p = 0.028) by decreasing the omission of consonants, which consequently increased speech intelligibility (p = 0.041). Severity of hypernasality greatly reduced only in 2 patients (29%, p = 0.131). CONCLUSION: Speech disorders were common even in early and successfully treated patients with IOPD; however, aggressive speech therapy and high-dose rhGAA could improve their speech disorders.