Harrison N Jones1, Kelly D Crisp2, Tronda Moss2, Katherine Strollo2, Randy Robey3, Jeffrey Sank4, Michelle Canfield5, Laura E Case6, Leslie Mahler7, Richard M Kravitz4, Priya S Kishnani5. 1. Department of Surgery, Division of Speech Pathology and Audiology, Duke University, Durham, NC, USA. 2. Division of Speech Pathology and Audiology, Duke University, Durham, NC, USA. 3. Communication Disorders, University of Virginia, Charlottesville, VA, USA. 4. Division of Pediatric Pulmonary and Sleep Medicine, Duke University, Durham, NC, USA. 5. Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC, USA. 6. Physical Therapy Division, Duke University, Durham, NC, USA. 7. Department of Communicative Disorders, University of Rhode Island, Kingston, RI, USA.
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.
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.
Authors: Harrison N Jones; Maragatha Kuchibhatla; Kelly D Crisp; Lisa D Hobson-Webb; Laura Case; Milisa T Batten; Jill A Marcus; Richard M Kravitz; Priya S Kishnani Journal: Neuromuscul Disord Date: 2020-09-28 Impact factor: 4.296
Authors: Harrison N Jones; Maragatha Kuchibhatla; Kelly D Crisp; Lisa D Hobson Webb; Laura Case; Milisa T Batten; Jill A Marcus; Richard M Kravitz; Priya S Kishnani Journal: Mol Genet Metab Date: 2019-05-08 Impact factor: 4.797
Authors: Matthias Boentert; Hélène Prigent; Katalin Várdi; Harrison N Jones; Uwe Mellies; Anita K Simonds; Stephan Wenninger; Emilia Barrot Cortés; Marco Confalonieri Journal: Int J Mol Sci Date: 2016-10-17 Impact factor: 5.923
Authors: Barbara K Smith; A Daniel Martin; Lee Ann Lawson; Valerie Vernot; Jordan Marcus; Saleem Islam; Nadeem Shafi; Manuela Corti; Shelley W Collins; Barry J Byrne Journal: Exp Neurol Date: 2016-07-21 Impact factor: 5.330