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Diaphragm Pacing as a Rehabilitative Tool for Patients With Pompe Disease Who Are Ventilator-Dependent: Case Series

Barbara K. Smith, David D. Fuller, A. Daniel Martin, Lawrence Lottenberg, Saleem Islam, Lee Ann Lawson, Raymond P. Onders, Barry J. Byrne
DOI: 10.2522/ptj.20150122 Published 1 May 2016
Barbara K. Smith
B.K. Smith, PT, PhD, Department of Physical Therapy, University of Florida, PO Box 100154, Gainesville, FL 32610 (USA), and Department of Pediatrics, University of Florida.
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David D. Fuller
D.D. Fuller, PhD, Department of Physical Therapy, University of Florida.
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A. Daniel Martin
A.D. Martin, PT, PhD, Department of Physical Therapy, University of Florida.
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Lawrence Lottenberg
L. Lottenberg, MD, Department of Surgery, College of Medicine, Florida Atlantic University, Boca Raton, Florida.
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Saleem Islam
S. Islam, MD, MPH, Department of Pediatrics, University of Florida, and Department of Surgery, University of Florida.
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Lee Ann Lawson
L.A. Lawson, MS, ARNP, Department of Pediatrics, University of Florida.
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Raymond P. Onders
R.P. Onders, MD, Department of Surgery, Case Western Reserve University, Cleveland, Ohio.
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Barry J. Byrne
B.J. Byrne, MD, PhD, Department of Pediatrics, University of Florida.
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Abstract

Background and Purpose Pompe disease is an inherited disorder notable for severe, progressive ventilatory compromise. Although ventilatory failure has been attributed to myofiber dysfunction secondary to diaphragmatic glycogen accumulation, neural involvement of the phrenic motor system is also a prominent feature. Direct diaphragm pacing supplements respiratory function in other disorders of the phrenic motor system. Accordingly, it is hypothesized that augmented neuromuscular activity via diaphragm pacing would promote weaning from mechanical ventilation in patients with Pompe disease who are unresponsive to conventional, muscle-directed treatments.

Case Description Three patients with Pompe disease developed diaphragm paresis that resulted in chronic mechanical ventilation dependence. After preoperative inspiratory muscle strengthening exercises failed to improve function, fine-wire pacing electrodes were laparoscopically implanted into the diaphragm. Diaphragm conditioning was initiated the first postoperative week and consisted of gradual increases in stimulation parameters, lengthening of stimulation sessions, and ventilator weaning. Ventilation and intramuscular electromyographic activity were recorded periodically during conditioning to quantify diaphragm neuromuscular function.

Outcomes During paced breathing without mechanical ventilation, tidal volumes increased, and 2 patients were weaned from daytime ventilator dependence within the first 3 months of pacing, which has been sustained over the long-term. A third patient reduced reliance on daytime ventilation, but weaning was delayed by malacia of the large airways. In all patients, pacing appeared to facilitate spontaneous phrenic motor unit activity during independent breathing without ventilator or pacer support.

Discussion The findings are consistent with the view that diaphragm pacing has potential rehabilitative value to reduce reliance on mechanical ventilation in people with Pompe disease, but further study is needed. Diaphragm pacing represents a paradigm shift in the management of respiratory insufficiency for Pompe disease that warrants further controlled examination.

Footnotes

  • All authors contributed to data acquisition and interpretation, manuscript draft and revision, and approval of the submitted work. The corresponding author had full access to all data and accepts final responsibility for the article.

  • Dr Onders is cofounder of Synapse Biomedical, which manufactured the diaphragm pacing technology used in this report.

  • Training support to Dr Smith was provided by the National Institutes of Health (NICHD: K12HD055929). The authors are grateful to the Acid Maltase Deficiency Association (AMDA) for supporting this work.

  • Received May 3, 2015.
  • Accepted January 21, 2016.
  • © 2016 American Physical Therapy Association
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Vol 96 Issue 5 Table of Contents
Physical Therapy: 96 (5)

Issue highlights

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  • Therapeutic Exercise Training to Reduce Chronic Headache in Working Women: Design of a Randomized Controlled Trial
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  • Tonic Stretch Reflex Threshold as a Measure of Ankle Plantar-Flexor Spasticity After Stroke
  • Diaphragm Pacing as a Rehabilitative Tool for Patients With Pompe Disease Who Are Ventilator-Dependent: Case Series
  • NF-κB Signaling Pathway in Controlling Intervertebral Disk Cell Response to Inflammatory and Mechanical Stressors
  • Mechanotransduction: Relevance to Physical Therapist Practice—Understanding Our Ability to Affect Genetic Expression Through Mechanical Forces
  • Developmental Biology and Regenerative Medicine: Addressing the Vexing Problem of Persistent Muscle Atrophy in the Chronically Torn Human Rotator Cuff
  • Neural Stem Cell Therapy and Rehabilitation in the Central Nervous System: Emerging Partnerships
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Diaphragm Pacing as a Rehabilitative Tool for Patients With Pompe Disease Who Are Ventilator-Dependent: Case Series
Barbara K. Smith, David D. Fuller, A. Daniel Martin, Lawrence Lottenberg, Saleem Islam, Lee Ann Lawson, Raymond P. Onders, Barry J. Byrne
Physical Therapy May 2016, 96 (5) 696-703; DOI: 10.2522/ptj.20150122

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Diaphragm Pacing as a Rehabilitative Tool for Patients With Pompe Disease Who Are Ventilator-Dependent: Case Series
Barbara K. Smith, David D. Fuller, A. Daniel Martin, Lawrence Lottenberg, Saleem Islam, Lee Ann Lawson, Raymond P. Onders, Barry J. Byrne
Physical Therapy May 2016, 96 (5) 696-703; DOI: 10.2522/ptj.20150122
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    • Abstract
    • Case Descriptions: Patient History and Systems Review
    • Preoperative Intervention: Inspiratory Muscle Strength Training
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    • Postoperative Electrophysiological Assessments
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    • Pulmonary Conditions: Other
  • Case Reports
  • Intervention
    • Airway Clearance

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