Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.

ABSTRACT: Oro-pharyngeal dysphagia commonly occurs in patients with infantile onset Pompe disease (IOPD), which is a rare recessive neuromuscular disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase. Without treatment, death occurs by 1 year of age from cardiorespiratory failure. Enzyme replacement therapy (ERT) has been used to increase life expectancy, however emerging developmental and medical morbidities have become apparent. A case file review of the feeding outcomes of 12 patients with IOPD, managed at a single tertiary centre, was undertaken. Two types of assessment had been completed: clinical feeding assessment (CFA) and instrumental videofluoroscopy swallow study (VFSS). A rating of functional oral intake at every Speech and Language Therapy feeding assessment from

SUBMITTER: Swift G 

PROVIDER: S-EPMC5413449 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature