Speech Disorders in Children With Pompe Disease: Articulation, Resonance, and Voice Measures.

PURPOSE: Children with Pompe disease, a rare genetic metabolic myopathy, often have speech impairments. In this study, we provide a comprehensive description of articulation, resonance, and voice in children with Pompe disease. METHOD: Fifteen children with Pompe disease (11 with infantile-onset Pompe disease [IOPD], four with late-onset Pompe disease [LOPD]) ranging from 6 to 18 years of age participated in standard speech assessments. Measures included maximum tongue pressure; nasalance; cepstral peak prominence (CPP); low/high ratio (L/H ratio); diadochokinetic (DDK) rates; percent consonants correct (PCC); and visual analog scale (VAS) ratings of articulation, resonance, voice quality, and overall speech severity. Maximum tongue pressures, nasalance, CPP, L/H ratio, DDK rates, and PCC were compared to normative data from typically developing (TD) children. Correlation analyses and multiple regression models of speech measure predictors were conducted. RESULTS: Children with IOPD had greater speech impairment than those with LOPD. The IOPD group had lower maximum tongue pressures, slower articulation rates, lower PCC scores, higher nasalance, and higher L/H voice ratios than TD children. VAS ratings confirmed the presence of impaired articulatory precision, hypernasality, and dysphonia for most of the children with IOPD, with severity of impairment ratings ranging from mild to severe. The LOPD group had mildly elevated nasalance and L/H ratio values relative to TD children, and auditory-perceptual ratings suggested mild to no speech impairment. CONCLUSIONS: Speech disorders involving articulatory precision, resonance balance, and voice quality are common in children with Pompe disease, especially in those with IOPD. With improvements in the detection and treatment of Pompe disease, clinicians should be aware of the associated speech deficits.

Duke Scholars

Author Priya Sunil Kishnani Pediatrics, Medical Genetics