Article Text

Quality of life in patients with slowly progressive neuromuscular disorders dependent on mechanical ventilation
  1. Mathieu Delorme1,2,
  2. Christian Reveillere3,
  3. Christian Devaux2,
  4. Sandrine Segovia-Kueny2,
  5. Frédéric Lofaso1,4,
  6. Ghilas Boussaid1,2
  1. 1UVSQ, ERPHAN, Universite Paris-Saclay, Versailles, France
  2. 2Direction des Actions Médicales, AFM-Téléthon, Evry, France
  3. 3Département de Psychologie, EE QualiPsy, Université de Tours, Tours, France
  4. 4Unité des pathologies du sommeil, Service de physiologie - explorations fonctionnelles, Hôpital Raymond Poincaré, AP-HP, Garches, France
  1. Correspondence to Mr Mathieu Delorme, UVSQ, ERPHAN, Universite Paris-Saclay, 78000, Versailles, France;{at}


This cross-sectional study evaluated health-related quality of life (HRQoL) in patients with slowly progressive neuromuscular disorders dependent on mechanical ventilation (MV; ≥16 hours/day). 119 participants, with 9 years (25th–75th percentiles: 4–15 years) of MV dependence, were included. MV was applied via a tracheostomy in 80 participants (67.2%) and non-invasive interfaces in 39 participants (32.8%), including 28 participants (71.8%) with daytime mouthpiece ventilation. HRQoL was rated good or excellent by 81 participants (68.1%), independently from age, diagnosis or respiratory autonomy. On multivariate analysis, time since MV initiation, independence from family member(s), residence in a rural area, ability to go outdoors with MV and tracheostomy were associated with better HRQoL.

  • Non invasive ventilation
  • Assisted Ventilation

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Respiratory insufficiency is among the leading causes of death in patients with slowly progressive neuromuscular disorders (NMD).1 The need for mechanical ventilation (MV) is, therefore, considered at early stages of disease evolution.2 3

However, despite optimal ventilatory management, disease progression may lead to an increase in MV needs. The longer life expectancy is at the cost of MV dependence, which may impact health-related quality of life (HRQoL).

The primary objective of this study was to assess HRQoL in patients with slowly progressive NMD dependent on MV, either non-invasive (NIV) or invasive mechanical ventilation (IMV; via a tracheostomy). Our secondary objective was to identify factors associated with HRQoL in this population.


Additional information about the methods is available in the online supplemental file 1.

Supplemental material


Participants were identified via the AFM-Téléthon organisation. Adults who had slowly progressive NMD, were wheelchair bound or bedridden and were dependent on NIV or IMV (≥16 hours/day for at least the past year) were eligible. The following diseases were defined a priori as not eligible: amyotrophic lateral sclerosis, myasthenia, polyradiculoneuritis and metabolic neuropathies.

Data collection

Each participant completed a questionnaire collecting the variables listed in the online supplemental table 1, and two validated and standardised HRQoL questionnaires: the Severe Respiratory Insufficiency Questionnaire (SRI), developed for patients with chronic respiratory failure,4 and the Quality of Life in genetic Neuromuscular Disease Questionnaire (QoL-gNMD), developed for patients with slowly progressive NMD.5 Each HRQoL score presented hereafter ranges from 0 to 100, with higher scores indicating better HRQoL.

Statistical analysis

We built multivariate linear regression models to identify factors associated with the SRI summary scale (SRI–SS) and with scores on each of the three QoL-gNMD domains (impact of physical symptoms (QoL-gNMD–PS), self-perception (QoL-gNMD–SP) and activities and social participation (QoL-gNMD–ASP)). Each multivariate model was adjusted for age, diagnosis (dystrophinopathy vs other diseases) and factors associated with p values of <0.20 by univariate analysis and identified by stepwise selection.

We compared groups with IMV versus NIV using Student’s t-test, the Mann-Whitney U test, the χ2 test and Fisher’s exact test, where appropriate. All tests were two-tailed and p values of <0.05 were considered significant.


Between December 2020 and December 2021, 119 participants distributed throughout France were enrolled. Online supplemental figure 1 is the flow chart. Table 1 reports the main features of the participants. Of the 39 patients (32.8%) on NIV, the most common daytime interface was mouthpiece (28 participants (71.8%)). Additional information about the results is provided in online supplemental file 1.

Table 1

Main features of the study participants and in the groups with IMV (via a tracheostomy) versus NIV

Health-related quality of life

As assessed based on the two general QoL-gNMD items, health status and HRQoL were ‘good or excellent’ for 75 participants (63.0%) and 81 participants (68.1%), respectively. Only 4 participants (3.4%) described their HRQoL as poor (online supplemental figure 2). The mean SRI–SS score was 56.1±14.6 (range: 15.9–86.5). Consistently with the inclusion criteria, physical functioning was the most severely impaired SRI domain (18.9±14.8; range: 0–54.2). Of the QoL-gNMD domains, activities and social participation had the lowest mean score (43.1±8.6; range: 24.2–62.7).

Figure 1 and online supplemental table 2 report the scores on the SRI subscales and QoL-gNMD domains, comparing groups with IMV versus NIV. The SRI–SS score was significantly better in the IMV group than in the NIV group (57.9±13.6 and 52.2±16.0, respectively; p=0.046). This difference was mainly due to the lesser intensity of respiratory complaints (online supplemental figure 3) and anxiety in the IMV group. Scores for all three QoL-gNMD domains were better with IMV than with NIV, but this difference was not significant and should be interpreted with caution.

Figure 1

Scores on the SRI and QoL-gNMD. The scores for each domain can range from 0 to 100, with higher scores indicating better quality of life. The box plots represent quality-of-life scores for all participants and comparison between groups with IMV versus NIV (A). The radar plots represent the different domains of the SRI in the groups with IMV versus NIV (B). Comparison between groups with IMV versus NIV: *p<0.05; p<0.1. See online supplemental table 2 for more information. IMV, invasive mechanical ventilation; NIV, non-invasive ventilation; QoL-gNMD, Quality of Life in genetic Neuromuscular Disease Questionnaire; SRI, Severe Respiratory Insufficiency Questionnaire

Factors associated with HRQoL

Online supplemental tables 1 and 3 report the results of the univariate analyses. HRQoL was not associated with age, overweight, diagnosis of dystrophinopathy versus other NMD, inclusion during a COVID-19 national lockdown, daily presence of a personal assistant, level of education or residence in a medical institution.

Table 2 shows the results of the multivariate analyses. A better SRI–SS score was associated with a longer time since MV initiation at study inclusion, residence in a rural area and living independently from a partner or other family member(s). A longer time since MV initiation, tracheostomy and ability to go outdoors with MV were associated with better scores for the QoL-gNMD–PS, QoL-gNMD–SP and QoL-gNMD–ASP domains, respectively.

Table 2

Multivariate analyses


From these results, it should be emphasised that HRQoL was perceived as good or excellent by over two-thirds of MV-dependent patients with slowly progressive NMD. Although there is strong agreement that HRQoL is a major goal in patients treated with long-term MV,6 assessment of HRQoL in daily clinical practice can be far from optimal and should deserve greater attention.

Our results also highlight that, even though often viewed as a negative step, tracheostomy was not associated with poorer HRQoL. A 1993 report indicated a preference for NIV over tracheostomy for safety, comfort, speech, swallowing and appearance.7 Since then, however, long-term IMV techniques have improved considerably, allowing speech and eating during MV (as shown in online supplemental figure 3).8 9 Importantly, in our study, more than 80% of the participants ventilated through IMV did not necessitate to move into a medical institution, and two-fifths of them lived alone or shared accommodations compared with only one-fifth of patients using NIV. Tracheostomy was not a barrier to independence.

The limitations of our study include the occurrence during the recruitment period of several COVID-19 national lockdowns, which may have decreased the willingness of patients to participate in a study on such a topic at a time when quality of life was constrained for everyone. This may have induced selection bias toward patients with better perceived HRQoL. Also, participants were recruited via a single organisation (AFM-Téléthon). However, this recruitment was carried out through 18 services all over France, which suggests a reasonable representativeness of the whole territory. Lastly, the cross-sectional study design precluded assessments of causality.

In conclusion, MV-dependent patients with slowly progressive NMD reported good HRQoL independently from age, diagnosis and respiratory autonomy. Participants with tracheostomy had less respiratory complaints, and a trend toward better self-perception and lower anxiety than participants with NIV, despite requiring a higher level of respiratory care. Additionally, other factors strongly associated with better HRQoL, such as not requiring help from family for daily needs and being able to go outdoors with MV, deserve consideration.10

Ethics statements

Patient consent for publication

Ethics approval

This study involves human participants and was approved by Comité de Protection des Personnes Sud-Ouest et Outre Mer III on 29 July 2020 (ID: 2020-A00997-32). Participants gave informed consent to participate in the study before taking part.


We thank Marie-Christine Bellot (on behalf of the AFM-Téléthon regional services), Professor Hélène Prigent, Dr Perrine Delalande, Pascal Melin and Thomas Menard for their very valuable support with recruiting study participants; the Fondation Garches (represented by Sandra Pottier) which promoted this study; Maimouna Kane and Isabelle Bossard (on behalf of the Centre de Gestion et de Méthodologie, CIC 1429) for their methodological support; Professor Nathalie Fleck, Professor Sharam Attarian (on behalf of the Filière Filnemus), Catherine Eng and Caroline Stalens for their contribution to study conception; Professor François Constant Boyer; and Dr Antoine Dany for their assistance with data analysis.


Supplementary materials

  • Supplementary Data

    This web only file has been produced by the BMJ Publishing Group from an electronic file supplied by the author(s) and has not been edited for content.


  • Correction notice This article has been corrected since it was published Online First. The licence has been updated to open access CC BY-NC.

  • Contributors All authors contributed substantially to conceive and design the study, revised the manuscript for important intellectual content, approved the final version, agree to be accountable for all aspects of the work and to ensure that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. MD, GB and FL contributed to acquire, analyse and interpret the data and to draft the manuscript.

  • Funding This research received fundings from the Fondation de France, the AFM-Téléthon and the Fondation Garches which was also the promotor of this study.

  • Competing interests MD reports grants from Fondation de France, AFM Téléthon and Fondation Garches, during the conduct of the study; personal fees from Air Liquide Medical Systems, Breas Medical AB, ResMed SAS and GSK; and non-financial support from L3 Medical, outside the submitted work. Other authors have nothing to disclose.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.

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