title: Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weakness.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  Intensive RMT may be a beneficial treatment for respiratory muscle weakness in pediatric survivors of infantile Pompe disease.
authors.affiliation: Department of Surgery, Division of Speech Pathology and Audiology, Duke University, Durham, NC, USA.
authors.forename: Harrison N
authors.initials: HN
authors.lastname: Jones
authors.affiliation: Division of Speech Pathology and Audiology, Duke University, Durham, NC, USA.
authors.forename: Kelly D
authors.initials: KD
authors.lastname: Crisp
authors.affiliation: Division of Speech Pathology and Audiology, Duke University, Durham, NC, USA.
authors.forename: Tronda
authors.initials: T
authors.lastname: Moss
authors.affiliation: Division of Speech Pathology and Audiology, Duke University, Durham, NC, USA.
authors.forename: Katherine
authors.initials: K
authors.lastname: Strollo
authors.affiliation: Communication Disorders, University of Virginia, Charlottesville, VA, USA.
authors.forename: Randy
authors.initials: R
authors.lastname: Robey
authors.affiliation: Division of Pediatric Pulmonary and Sleep Medicine, Duke University, Durham, NC, USA.
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Sank
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC, USA.
authors.forename: Michelle
authors.initials: M
authors.lastname: Canfield
authors.affiliation: Physical Therapy Division, Duke University, Durham, NC, USA.
authors.forename: Laura E
authors.initials: LE
authors.lastname: Case
authors.affiliation: Department of Communicative Disorders, University of Rhode Island, Kingston, RI, USA.
authors.forename: Leslie
authors.initials: L
authors.lastname: Mahler
authors.affiliation: Division of Pediatric Pulmonary and Sleep Medicine, Duke University, Durham, NC, USA.
authors.forename: Richard M
authors.initials: RM
authors.lastname: Kravitz
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC, USA.
authors.forename: Priya S
authors.initials: PS
authors.lastname: Kishnani
mesh_terms: D000403:Airway Resistance / Q000502:physiology; D001945:Breathing Exercises; D002648:Child; D045853:Exhalation / Q000502:physiology; D006009:Glycogen Storage Disease Type II / Q000503:physiopathology* / Q000534:rehabilitation*; D006801:Humans; D001239:Inhalation / Q000502:physiology; D008168:Lung / Q000503:physiopathology; D009119:Muscle Contraction / Q000502:physiology; D012132:Respiratory Muscles / Q000502:physiology*
keywords: Glycogen storage disease type II; breathing exercises; muscle; neuromuscular diseases; rehabilitation; skeletal