Background There are widely discrepant views on the respiratory management of infants with spinal muscular atrophy (SMA) type I. Typically, management is palliative.
Design A descriptive study of interventions and investigations is reported that were offered to a cohort of 13 children with SMA type I referred to our centre.
Interventions and investigations included sleep studies, provision of non-invasive positive pressure ventilation (NIPPV) for ventilatory support/dependency and for physiotherapy and the use of mechanical insufflation/exsufflation (MI-E).
Results NIPPV was provided for the following indications: continuous positive airways pressure flow driver dependency (n=3), nocturnal hypoventilation (n=3), to enable successful extubation (n=2), in anticipation of respiratory decompensation (n=3), and oxygen dependency/decompensation (n=2). NIPPV and MI-E were used for successful protocol-led extubations (n=9) but not non protocol-led successes (n=3). NIPPV was essential for discharge home in patients with ventilatory dependency (n=7) and was used for palliation of respiratory symptoms (n=4). Chest wall shape improved with NIPPV. The parents of children who died (n=5) were positive about the use of these techniques.
Conclusion NIPPV can be used to facilitate discharge home, and MI-E is helpful in this group. This symptom and goal-directed approach can be used to inform medical decision making and to help parents make informed choices about the appropriateness of respiratory interventions in SMA type I.
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Funding This work was supported by the National Institute for Health Research Respiratory Disease Biomedical Research Unit at the Royal Brompton and Harefield NHS Foundation Trust and Imperial College London. MC was funded by a grant from the Jennifer Trust for Spinal Muscular Atrophy, Stratford-upon-Avon, UK for 6 months in 2002. While carrying out the following research “Cough augmentation with MI-E in patients with neuromuscular weakness”, this work was published in the ERJ in 2003. MC has participated in educational research projects with AKS that have been funded by Breas Medical (Sweden); those are unrelated to this paper.
Competing interests Declared. The authors have no competing interests but would like to disclose the following: AKS receives a grant of £113 000 from ResMed for evaluating an autotitrating non-invasive ventilator, which is not related to the work in patients with SMA type I, and an educational grant of £51 000 from Breas Medical, Sweden, which is also unrelated to this paper.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.