Respiratory muscle function in infants with spinal muscular atrophy type I

Pediatr Pulmonol. 2014 Dec;49(12):1234-42. doi: 10.1002/ppul.22997. Epub 2014 Apr 29.


Objective: To determine the feasibility and safety of respiratory muscle function testing in weak infants with a progressive neuromuscular disorder.

Rationale: Respiratory insufficiency is the major cause of morbidity and mortality in infants with spinal muscular atrophy type I (SMA-I).

Hypothesis: Tests of respiratory muscle strength, endurance, and breathing patterns can be performed safely in SMA-I infants. Useful data can be collected which parallels the clinical course of pulmonary function in SMA-I.

Study design and subject selection: An exploratory study of respiratory muscle function testing and breathing patterns in seven infants with SMA-I seen in our neuromuscular clinic. Measurements were made at initial study visit and, where possible, longitudinally over time.

Methodology: We measured maximal inspiratory (MIP) and transdiaphragmatic pressures, mean transdiaphragmatic pressure, airway occlusion pressure at 100 msec of inspiration, inspiratory and total respiratory cycle time, and aspects of relative thoracoabdominal motion using respiratory inductive plethysmography (RIP). The tension time index of the diaphragm and of the respiratory muscles, phase angle (Φ), phase relation during the total breath, and labored breathing index were calculated.

Results: Age at baseline study was 54-237 (median 131) days. Reliable data were obtained safely for MIP, phase angle, labored breathing index, and the invasive and non-invasive tension time indices, even in very weak infants. Data obtained corresponded to the clinical estimate of severity and predicted the need for respiratory support.

Conclusions: The testing employed was both safe and feasible. Measurements of MIP and RIP are easily performed tests that are well tolerated and provide clinically useful information for infants with SMA-I.

Keywords: maximal inspiratory pressure; neuromuscular weakness; respiratory inductive plethysmography; tension time index.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Diaphragm / physiopathology
  • Feasibility Studies
  • Female
  • Humans
  • Infant
  • Longitudinal Studies
  • Male
  • Muscle Strength / physiology
  • Plethysmography
  • Respiratory Function Tests
  • Respiratory Muscles / physiopathology*
  • Spinal Muscular Atrophies of Childhood / physiopathology*