Affiliations: Department of Surgery, Division of Speech Pathology
and Audiology, Duke University Durham, NC, USA | Department of Pediatrics, Division of Medical
Genetics, Duke University Durham, NC, USA
Note: [] Correspondence: Harrison N. Jones, PhD, Department of Surgery
Division of Speech Pathology and Audiology, Duke University, 155 Baker House,
Trent Dr., DUMC 3887, Durham, NC 27710, USA. Tel.: +919 684-6271; Fax: +919 684
8298; E-mail: harrison.jones@duke.edu
Abstract: Pompe disease, also known as glycogen storage disease type II and
acid maltase deficiency, is a rare autosomal recessive progressive
neuromuscular disorder. The natural course of the infantile form of this
condition has resulted in mortality for patients prior to 1 year of age, making
investigations into language and speech function in this population impossible.
However, with the advent of treatment with enzyme replacement therapy (ERT)
using alglucosidase alfa (Myozyme®), the
lifespan of children with this condition has been extended. A retrospective
study of the language and speech skills of 12 children enrolled in clinical
trials for treatment with ERT at a tertiary care center was completed.
Standardized language assessment instruments were administered to all
participants, and six of the 12 were assessed twice. At initial assessment,
overall language function was found to be age appropriate in 58% of
participants, while, in those who received reassessment, overall normal
language function was seen in 83%. Speech assessments were completed during
all visits in which subjects were 24 months or older. Articulatory disorders
and/or hypernasality were commonly encountered and were exhibited in 82% of
speech assessments. Disorders in language and/or speech were found in all
participants at some point in the course of the study. Overall, language delays
tended to improve with time. Speech disorders were encountered more commonly,
were often severe, and appeared to be motoric in nature. Children with
infantile Pompe disease treated with ERT appear to be at high risk for speech
disorders in particular. Further systematic investigations are needed.
Keywords: Pompe disease, glycogen storage disease type II, enzyme replacement therapy, Myozyme®, speech, language, hypernasality, articulation, natural history
