Language and speech function in children with infantile Pompe disease

摘要: 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 this condition has resulted in mortality for patients prior to 1 year age, making investigations into language speech function population impossible. However, with advent treatment enzyme replacement therapy (ERT) using alglucosidase alfa (Myozyme ), lifespan children been extended. A retrospective study skills 12 enrolled clinical trials ERT at tertiary care center was completed. Standardized assessment instruments were administered all participants, six assessed twice. At initial assessment, overall found be age appropriate 58% while, those who received reassessment, normal seen 83%. Speech assessments completed during visits which subjects 24 months or older. Articulatory disorders and/or hypernasality commonly encountered exhibited 82% assessments. Disorders participants some point study. Overall, delays tended improve time. more commonly, often severe, appeared motoric nature. Children treated appear high risk particular. Further systematic are needed.