Language and speech function in children with infantile Pompe disease

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

¹ These authors contributed equally to this work.