Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease
Journal
European Journal of Paediatric Neurology
Journal Volume
21
Journal Issue
3
Pages
485-493
Date Issued
2017
Author(s)
Abstract
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. ? 2016 European Paediatric Neurology Society
Other Subjects
recombinant glucan 1,4 alpha glucosidase; alpha glucosidase; GAA protein, human; absence of side effects; Article; child; clinical article; clinical evaluation; consonant; disease severity; drug dose increase; drug megadose; enzyme replacement; female; follow up; glycogen storage disease type 2; hearing; human; hypernasality; infant disease; longitudinal study; male; priority journal; speech; speech articulation; speech disorder; speech intelligibility; speech language pathologist; speech sound disorder; speech therapy; case report; complication; early intervention; glycogen storage disease type 2; speech disorder; alpha-Glucosidases; Child; Early Medical Intervention; Enzyme Replacement Therapy; Female; Follow-Up Studies; Glycogen Storage Disease Type II; Humans; Male; Speech Disorders; Speech Therapy
Publisher
W.B. Saunders Ltd
Type
journal article