The impact of long-term ventilator-use on health-related quality of life and the mental health of children with neuromuscular diseases and their families: need for a revised perspective?

Neuromuscular disorders are mostly life-limiting diseases using mechanical ventilation at any stage as a tool of palliative care extending life expectancy of the patients [1‐3]. In recent years a growing number of new therapies in the field of neuromuscular diseases have emerged modifying the disease’s course and enhancing the life-expectancy of affected children [4‐6]. In this context two aspects of mechanical ventilation in those patients become more important: 1. Extending patient’s life expectancy with the option that new therapeutics are available in the future and 2. Focusing on the quality of life considering that new therapies might extend life expectancy but still do not reverse the course of the disease to a significant extent. One example in this discussion is the initiation of mechanical ventilation in patients with spinal muscular atrophy type 1 in the face of recently approved disease-modifying treatments such as nusinersen and/or Onasemnogene abeparvovec [4‐7]. In everyday clinical practice, healthcare economy as well as the knowledge of patients and health care professionals are additional factors in the decision for or against ventilation in patients with neuromuscular disorders at any stage of the disease. How health care professionals’ and caregivers’ assess a patients’ quality of life is crucial for medical counseling. However, HRQOL of technology-dependent and/or physically disabled children were reported to be significantly underestimated by caregivers [8, 9].

The care for a technology-dependent child leads to a significant burden on the caregivers and long-term dependence on medical equipment, which creates a considerable impediment of social life for the affected child and their families [10‐13]. Moreover, an increased risk of externalizing and internalizing behavioural disorders, as well as developmental disorders and mental comorbidities were found in a longitudinal data analysis in families with technology-dependent children [14]. Additionally, parents of chronically ill children exhibit mental health problems and comorbidities due to the condition of their child, mostly in the spectrum of depression and anxiety disorders. The percentage of mothers with clinically significant anxiety and depression lies above 30 and 23% respectively [15]. Thus, the application of life-extending procedures, in particular ventilator use, must be embedded in the medical but also in the psychosocial context.

Considering this, the comparison of quality of life and mental health of non-ventilated and ventilated children with neuromuscular disease and their parents could be essential to the decision-making process of applying life-extending procedures. The purpose of our study was to investigate health-related quality of life and mental health outcomes of affected children and their families enclosing the aspect of ventilation. In total, 43 families of children with neuromuscular disease treated in the University medical center Hamburg-Eppendorf and the Children’s Hospital Altona were evaluated with standardized questionnaires and compared to a cohort of healthy children and children with other chronic diseases, respectively. In view of previous reports on health-related quality of life in ventilated patients [10, 12, 14, 16] we propose that long-term ventilation is one factor that impairs quality of life of affected children and their families due to an increase in disease burden.

In face of the growing number of disease-modifying therapies in the field of neuromuscular disorders the quality of life of patients and their families is of central importance for a decision on life-prolonging procedures, such as mechanical ventilation, and the initiation of these therapies. However, previous studies have stated, that HRQOL of technology-dependent and/or physically disabled children might be significantly underestimated by the caregivers [8, 9].

Therefore, we evaluated the quality of life and mental health of families with ventilated and non-ventilated children with neuromuscular diseases. As reported by others [12, 13, 26‐29], children with neuromuscular diseases and their parents reported a reduced child’s overall quality of life especially regarding the Physical and Psychological Well-Being and Social integration and also in some aspects of their mental health compared to healthy children. Moreover, quality of life of our patients was even lower than in the group of children with other chronic diseases. Although technical equipment, for example portable medical devices and long-lasting batteries, has improved over time, our results might reflect the impact of neuromuscular disorders on managing daily life and the proper integration of physically disabled children in their social environment. Surprisingly and in contrast to our hypothesis, these results were irrespective of the need of mechanical ventilation and confirm that ventilator use per se did not negatively influence health-related quality of life and mental health in our patients. This seems counterintuitive but is consistent with previous reports about the improvement of quality of life after initiation of mechanical ventilation in patients with neuromuscular disease [30, 31]. It also supports our experience in clinical practice with positive effects on physical performance due to mechanical ventilation, mainly in children using non-invasive ventilation in later stages of the disease such as Duchenne muscular dystrophy. Seear et al. (2016) also reported only mild to moderate adverse effects of mechanical ventilation on the quality of life in the majority of home-ventilated children with heterogeneous underlying diseases [13]. Indeed, our results might be influenced by the higher proportion of children with non-invasive ventilation (61.1%) as this might have a lower impact on daily life compared to invasive ventilation. However, some authors associated ventilator use in children with significant lower scores in most aspects of health-related quality of life [12, 16, 26]. These studies included a broader spectrum of underlying medical conditions impairing comparability with our data as the underlying disease itself might contribute to the impairment of quality of life. Mah et al. showed poorer physical and psychosocial HRQOL in Canadian ventilated children compared to non-ventilated children with neuromuscular diseases. Children with home ventilation counted for only 17% of the study population. Authors interpreted their results as a consequence of disease severity and reduced involvement in social activities of ventilated children [32]. In our population, reduced contact to peers in ventilated children compared to non-ventilated children was reported only by the parents but not by the children themselves. Similar results with fewer relationships with friends were also reported by parents for their home-ventilated children in the study of Noyes et al. (2007) [16]. This might reflect differences in child self-report and parent proxy measures as indicated by Bray (2017) [9]. HRQOL and mental health outcomes of parents in our population were only to some extent decreased. These results were again not dependent on the use of mechanical ventilation in their children. In fact, in many domains the parents and here especially the fathers scored higher than the normative groups. Though, we realized high scores in the Positive Symptom Distress Index that might point towards the tendency to give positive self-descriptions as decribed by Paulhus (2002) [33]. Another explanation might be offered by the Theory of social comparison established by Festinger (1954) [34]. The theory states, that individuals assess their own situation and abilities in relation to others. Assuming that families with chronically ill children are more often in hospital and in contact with families in similar circumstances, their own distress might be modified. Moreover, influencing factors as social support, family dynamics and relations might influence our results but have not been evaluated separately.

Although our study has some limitations due to the small sample size and the heterogenous group of patients regarding the underlying neuromuscular diseases and the kind and duration of mechanical ventilation it should be considered as assisting data, that might influence the perspective on ventilator-use as a life-extending procedure in children with neuromuscular diseases. As the debate about the use of long-term ventilation in severly affected children with neuromuscular disease is still polarizing and often colored by individual experience the results in our patients emphasizes, that ventilator use per se is not the limiting factor for the HRQOL and mental health of affected children and their families.

Quality of life of patients and families must be a central decision criterium for medical interventions especially in palliative care situations. Therefore, our data contributes an important aspect in the controversial discussion about establishing life-prolonging procedures since ventilator use was not responsible for the reduction of HRQOL and mental health in our population of children with neuromuscular diseases and their families.