Affiliations: [a] Department of Head and Neck Surgery and Communication Sciences, Duke University, Durham, NC, USA | [b] Physical Therapy Division, Duke University, Durham, NC, USA | [c] Division of Pediatric Pulmonary and Sleep Medicine, Duke University, Durham, NC, USA | [d] Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC, USA
Correspondence:
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Corresponding author: Harrison N. Jones, PhD, Department of Head and Neck Surgery and Communication Sciences, Duke University, 155 Baker House, Trent Dr., DUMC 3887 Durham, NC 27710, USA. Tel.: +1 9196811852; E-mail: harrison.jones@duke.edu.
Abstract: BACKGROUND: Respiratory muscle weakness is a primary cause of morbidity and mortality in patients with Pompe disease. We previously described the effects of our 12-week respiratory muscle training (RMT) regimen in 8 adults with late-onset Pompe disease [1] and 2 children with infantile-onset Pompe disease [2]. CASE REPORT: Here we describe repeat enrollment by one of the pediatric participants who completed a second 12-week RMT regimen after 7 months of detraining. We investigated the effects of two 12-week RMT regimens (RMT #1, RMT #2) using a single-participant A-B-A experimental design. Primary outcome measures were maximum inspiratory pressure (MIP) and maximum expiratory pressure (MEP). Effect sizes for changes in MIP and MEP were determined using Cohen’s d statistic. Exploratory outcomes targeted motor function. RELEVANCE: From pretest to posttest, RMT #2 was associated with a 25% increase in MIP and a 22% increase in MEP, corresponding with very large effect sizes (d= 2.92 and d= 2.65, respectively). Following two 12-week RMT regimens over 16 months, MIP increased by 69% and MEP increased by 97%, corresponding with very large effect sizes (d= 3.57 and d= 5.10, respectively). MIP and MEP were largely stable over 7 months of detraining between regimens. Magnitude of change was greater for RMT #1 relative to RMT #2.
Keywords: Pompe disease, glycogen storage disease type II, skeletal muscle, neuromuscular disease, rehabilitation, respiratory muscle training
