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3D analysis of the chest wall motion for monitoring late-onset Pompe disease patients.
Neuromuscular Disorders : NMD 2016 Februrary
Late-onset Pompe disease, for which enzyme replacement therapy is available, induces progressive diaphragmatic weakness. Monitoring diaphragmatic function is therefore crucial but is hindered by the need to insert esophageal and gastric probes. Vital capacity (VC), inspiratory capacity, maximal inspiratory pressure, and sniff nasal pressure are noninvasive measurements but reflect only global inspiratory-muscle function. Diaphragmatic function may be assessable noninvasively based on abdominal contribution to breathing and abdominal volume change during the VC maneuver (AVC-VC), obtained by 3-dimensional chest-wall analysis. In 11 patients, we assessed the relationships between the above-listed noninvasive variables and the invasively measured Gilbert index reflecting the diaphragmatic contribution to breathing (ratio of gastric pressure over transdiaphragmatic pressure swings during spontaneous breathing). Only abdominal contribution to breathing and AVC-VC correlated significantly with the Gilbert index (R = 0.977, P = 0.0001; and R = 0.944, P = 0.001 respectively). AVC-VC correlated significantly with transdiaphragmatic pressure swing during the sniff maneuver (R = 0.743, P = 0.0009) and with phrenic magnetic stimulation (R = 0.610, P = 0.046). Repeat testing 1 year later in the first 6 patients showed concordant changes in abdominal contribution to breathing, Gilbert index, and VC. Abdominal contribution to breathing and AVC-VC are reliable and noninvasive indices of diaphragmatic function in Pompe disease, and therefore hold promise as clinical monitoring tools.
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