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

Abstract

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.

• Authors: Ruth Grychtol, Francois Abel, Dominic A Fitzgerald
• Journal: Paediatric respiratory reviews (Paediatr Respir Rev) Vol. 28 Pg. 18-25 (Sep 2018) ISSN: 1526-0550 [Electronic] England
• PMID: 30396824 (Publication Type: Journal Article, Review)
• Copyright: Copyright © 2018 Elsevier Ltd. All rights reserved.

Topics

• Cough
• Humans
• Lung (physiopathology)
• Noninvasive Ventilation (methods)
• Polysomnography
• Respiration, Artificial
• Respiratory Insufficiency (etiology, physiopathology, therapy)
• Respiratory Muscles (physiopathology)
• Sleep Apnea Syndromes (etiology, physiopathology, therapy)
• Spinal Muscular Atrophies of Childhood (complications, physiopathology, therapy)