Recent Relevant Publications

A history of home mechanical ventilation: The past, present and future

D'Cruz RF, Hart N.

This state-of-the-art review provides an overview of the history of home mechanical ventilation (HMV), including early descriptions of mechanical ventilation from ancient and Renaissance perspectives and the mass development of ventilators designed for long-term use during the poliomyelitis epidemic. Seminal data from key clinical trials supports the application of HMV in certain patients with chronic obstructive pulmonary disease, neuromuscular disease and obesity-related respiratory failure. Innovative engineering coupled with refined physiological understanding now permits widespread delivery of home mechanical ventilation to a global population, using portable devices with advanced ventilatory modes and telemonitoring capabilities. Exponential growth in digital technology continues, and ongoing research is needed to understand how to harness clinical and physiological data to benefit patients and healthcare services in a clinically- and cost-effective manner.

Chron Respir Dis. 2024 Jan-Dec. doi: 10.1177/14799731241240776

Characteristics and outcomes in children with congenital central hypoventilation syndrome on long-term mechanical ventilation in the Netherlands

Evers-Bikker EE, de Weerd W, Wijkstra PJ, Corel L, Verweij LP, Vosse BAH.

Congenital central hypoventilation syndrome (CCHS) is a rare condition characterized by central hypoventilation, leading to the majority of patients being dependent on ventilatory support during sleep. This condition is often accompanied by various associated symptoms, due to a PHOX2B gene variant involved in neuronal crest cell migration. This study is the first to review the characteristics and outcomes in children with CCHS on long-term mechanical ventilation in the Netherlands. We performed a retrospective study of all CCHS patients treated in the 4 Centers of Home Mechanical Ventilation of the University Medical Centers in the Netherlands from 2000 till 2022 by collecting information from the electronic medical records, documented during follow-up. We included 31 patients, out of which 27 exhibited a known genetic profile associated with CCHS, while no PHOX2B variant was identified in the remaining patients. Among the 27 patients with known genetic profiles, 10 patients had a non-polyalanine repeat expansion mutation (NPARM), followed by 20/27, 20/25, and 20/26 polyalanine repeat expansion mutations (PARMs) in descending order. The most common presentation involved respiratory failure or apneas during the neonatal period with an inability to wean off ventilation. The majority of patients required ventilatory support during sleep, with four patients experiencing life-threatening events related to this dependency. Daily use of ventilatory support varied among different genetic profiles. All genotypes reported comorbidities, with Hirschsprung's disease and cardiac arrhythmias being the most reported comorbidities. Notably, Hirschprung's disease was exclusively observed in patients with a 20/27 PHOX2B variant.

Eur J Pediatr. 2024 Feb;183(2):791-797. doi: 10.1007/s00431-023-05339-9

Timing initiation of non-invasive ventilation in management of ALS

Swash M.

Non-invasive positive pressure ventilation (NIV) has become a widely accepted mode of management for ventilatory failure due to the otherwise fatal combination of upper and lower motor neuron weakness in amyotrophic lateral sclerosis (ALS). In most clinics NIV is commenced when there is evidence of respiratory failure, usually defined as a forced vital capacity (FVC) <50% predicted or a maximal inspiratory pressure (MIP) > minus 60 cm water. Slight variations around these criteria are also in use, but measurement of oxygen saturation in arterial blood, or pCO2 levels are not used as criteria since they can be affected by many factors other than respiratory muscle performance. These simple measurements of respiratory muscle performance do not require any attempt to define underlying neurological factors, whether UMN, LMN or a disorder of central respiratory drive; all possible features of ALS. They do not necessarily require assessment of any possible associated pulmonary disease and their simplicity makes them generally applicable. Other, more complex tests, such as diaphragmatic EMG studies and arterial blood oxygen or CO2 measurements have also been considered, but these introduce a level of complexity that should perhaps be avoided and they do not directly assess respiratory muscle force, which is mainly due to diaphragmatic weakness, the primary dysfunction causing respiratory failure in the disease.

J Neurol Sci. 2024 Apr 15;459:122972. doi: 10.1016/j.jns.2024.122972