Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weakness

Article type: Research Article

Authors: Jones, Harrison N. | Crisp, Kelly D. | Moss, Tronda | Strollo, Katherine | Robey, Randy | Sank, Jeffrey | Canfield, Michelle | Case, Laura E. | Mahler, Leslie | Kravitz, Richard M. | Kishnani, Priya S.

Affiliations: Department of Surgery, Division of Speech Pathology and Audiology, Duke University, Durham, NC, USA | Division of Speech Pathology and Audiology, Duke University, Durham, NC, USA | Communication Disorders, University of Virginia, Charlottesville, VA, USA | Division of Pediatric Pulmonary and Sleep Medicine, Duke University, Durham, NC, USA | Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC, USA | Physical Therapy Division, Duke University, Durham, NC, USA | Department of Communicative Disorders, University of Rhode Island, Kingston, RI, USA

Note: [] Corresponding author: Harrison Jones, Duke University, Department of Surgery, 155 Baker House, Trent Dr., DUMC 3887, Durham, NC, USA. Tel.: +1 919 681 1852; Fax: +1 919 846 1565; E-mail: harrison.jones@duke.edu

Abstract: PURPOSE: Respiratory muscle weakness is a primary therapeutic challenge for patients with infantile Pompe disease. We previously described the clinical implementation of a respiratory muscle training (RMT) regimen in two adults with late-onset Pompe disease; both demonstrated marked increases in inspiratory and expiratory muscle strength in response to RMT. However, the use of RMT in pediatric survivors of infantile Pompe disease has not been previously reported. METHOD: We report the effects of an intensive RMT program on maximum inspiratory pressure (MIP) and maximum expiratory pressure (MEP) using A-B-A (baseline-treatment-posttest) single subject experimental design in two pediatric survivors of infantile Pompe disease. Both subjects had persistent respiratory muscle weakness despite long-term treatment with alglucosidase alfa. RESULTS: Subject 1 demonstrated negligible to modest increases in MIP/MEP (6% increase in MIP, d=0.25; 19% increase in MEP, d=0.87), while Subject 2 demonstrated very large increases in MIP/MEP (45% increase in MIP, d=2.38; 81% increase in MEP, d=4.31). Following three-month RMT withdrawal, both subjects maintained these strength increases and demonstrated maximal MIP and MEP values at follow-up. CONCLUSION: Intensive RMT may be a beneficial treatment for respiratory muscle weakness in pediatric survivors of infantile Pompe disease.

Keywords: Glycogen storage disease type II, muscle, skeletal, neuromuscular diseases, rehabilitation, breathing exercises

DOI: 10.3233/PRM-140294

Journal: Journal of Pediatric Rehabilitation Medicine, vol. 7, no. 3, pp. 255-265, 2014