A significant number of neuromuscular diseases, foremost among them spinal muscular atrophy, Duchenne muscular dystrophy and certain congenital myopathies, are accompanied by restrictive respiratory disorders. Children suffering from these disorders are at-risk to develop hypoventilation, and possibly chest deformities. Over the years, non-invasive ventilation (NIV) stood out as an effective, and relatively easy to implement, solution to address it.
The CHU Necker-Enfants Malades team, specialized in this therapeutic intervention and supported by the AFM-Telethon, reviews both the technical methods of NIV, its indications and its limits. In addition to the “classic” NIV delivered by a ventilator using different kinds of interface (nasal, nasofacial or facial mask, mouthpiece), a chapter is devoted to pressure relaxers allowing passive movements to be carried out of insufflation-exsufflation at the thoracic level. The authors insist on the necessary customization of these techniques to obtain maximum benefit. However, there is still little consensus on the indications for NIV. The follow-up of fitted patients, ideally in a multidisciplinary expert centre, must be regular and focus as much on ventilatory and biological parameters as on the well-being of the person and therefore on his quality of life.
