The role of sleep diagnostics and non-invasive ventilation in children with spinal muscular atrophy. (September 2018)

• Record Type: Journal Article
• Authors: Grychtol, Ruth; Abel, Francois; Fitzgerald, Dominic A.
• Is Part Of: Paediatric respiratory reviews. Volume 28(2018)
• Page Start: 18
• Page End: 25
• Publication Date: 2018-09
• Subjects: Spinal muscular atrophy -- Polysomnography -- Sleep-disordered breathing -- Lung function -- Non-invasive ventilation; Pediatric respiratory diseases -- Periodicals; Respiratory organs -- Diseases -- Periodicals; Respiratory Tract Diseases -- Periodicals; Respiratory Therapy -- Periodicals; Child -- Periodicals; Appareil respiratoire -- Infections, chez l'enfant -- Périodiques; Appareil respiratoire -- Maladies, chez l'enfant -- Périodiques; 618.922
• DOI: 10.1016/j.prrv.2018.07.006
• Languages: English
• ISSNs: 1526-0542

Abstract

Summary: Spinal muscular atrophy (SMA) is a degenerative motor neurone disorder causing progressive muscular weakness. Without assisted ventilation or novel therapies, most children with SMA type 1 die before the second year of life due to respiratory failure as the respiratory muscles and bulbar function are severely affected. Active respiratory treatment (mechanically assisted cough, invasive or non-invasive ventilation) has improved survival significantly in recent decades, but often at the cost of becoming ventilator dependent. The advent of a new oligonucleotide based therapy (Nusinersen) has created new optimism for improving motor function. However, the long-term effect on respiratory function is unclear and non-invasive respiratory support will remain an important part of medical management in patients with SMA. This review summarises the existing knowledge about sleep-disordered breathing and respiratory failure in patients with SMA, especially type 1, as well as the evidence of improved outcome and survival in patients treated with non-invasive or invasive ventilation. Practical considerations and ethical concerns are delineated with discussion on how these may be affected by the advent of new therapies such as Nusinersen.