24th International Symposium on ALS/MND, Milan: Session 2B – Autonomy and Quality of Life

It’s just over a week since the 24th International Symposium ended. As a medical student attending my first international research conference, it was inspiring to experience the progressive and collaborative efforts of ALS/MND researchers and health care professionals coming together in Milan from all over the world. I decided to report on session 2B – ‘Autonomy and Quality of Life’, which was the first clinical session on the Friday morning after an exciting opening session. Encouraging autonomy is an essential step towards the empowerment of patients suffering with the disease and the importance of quality of life is particularly pertinent in ALS/MND as the disease is currently incurable and treatments are limited.

The first presentation, ‘To test or not to test, that is the question’, was given by Orla Hardiman of Trinity College Dublin. It concerned the ethical and practical dilemmas clinicians and patients are confronted with when considering whether to undertake genetic testing for the disease. These dilemmas include there currently being no clear consensus on the definition of ‘familial ALS’, which complicates the question of who to test. Another problem is that while gene variants have been implicated in the pathogenesis of ALS/MND, it is still questionable whether all are pathological. Furthermore, the degree of penetrance associated with variants is yet to be established. The speaker also made note of the regional variation in the prevalence of variants that clinicians should be aware of. The question of whether it is beneficial to identify variants in patients considering the current absence of curative treatment was discussed. The need for future research to establish pathogenicity and penetrance was emphasised. Finally, the role of genetic counselling and the need for counsellors to be properly trained and assessed was considered.

The second presentation, ‘ALS clinics and the emerging challenge of genetics: A worldwide survey’ complemented the first talk by presenting the results of a multinational survey conducted by Rudnicki et al investigating how the genetics of the disease is addressed in clinic. 203 ALS/MND clinics were emailed with 87 responding. The main conclusions of this research were that practices varied widely between clinics and thus there is a need for guidelines and consensus on how to approach genetic testing and counselling.

The third presentation, ‘Developing a model of patient-centred decision-making – ALS multidisciplinary care’ summarised research by Hogden et al that used semi-structured interviews of ALS/MND patients, carers and healthcare professionals to devise a model of patient-centred decision-making in ALS/MND. Models of decision-making have been used since the early 1990s when they were first developed for the care of cancer patients. The speaker discussed how ALS/MND care is specific, complicated and multi-disciplinary, calling for an ALS-specific model for use in a multi-disciplinary environment. The researchers found that six factors were reported by participants to influence patient-centred decision making. These were the process of decision-making, the use of patient-centred focus, timing and planning, information sources used, engagement with specialised ALS/MND services, and access to non-specialised services. The model proposed four interlinked stages to proceed through when making decisions: patient engagement (values, preferences, expectations), option information (available management options), deliberation (weigh up – proceed, do nothing or defer?) and implementation. The researchers concluded that the model offers a useful framework for healthcare professionals to encourage autonomy among patients.

The fourth presentation, ‘Quality of life, depression and perceived social support in the course of ALS’ discussed a longitudinal, repeated measures study conducted by Lule et al. The study investigated the dynamics of subjective quality of life, depression and perceived social support over the course of a year among 93 ALS/MND patients in the advanced stages of the disease. The background to this study is that previous research has found, perhaps surprisingly, that quality of life is good in the majority of ALS/MND patients and depression rates are often low. Despite physical decline, psychosocial well-being has been found to remain relatively stable. This study corroborated those findings. Quality of life rates were neutral to good and depression scores low and both remained stable throughout the study despite significant physical decline. Perceived social support was also measured as this has been found to be an important determinant of quality of life. Lending credence to such research, higher levels of social support were associated with better subjective quality of life. A particularly interesting finding from the study was that the feeling of being a burden among patients was associated with lower psychosocial well-being. The researchers concluded that as physical function was not associated with psychosocial well-being, pre-existing individual differences are likely to account for differences in quality of life in ALS/MND.

The final talk, ‘Understanding quality of life in motor neurone disease: qualitative explanations from the trajectories of outcome in neurological conditions study (TONiC)’ was given by Hikari Ando from the Walton Centre in Liverpool, UK. The TONiC study is a multicentre national study aiming ultimately to provide a biopsychosocial model of quality of life in ALS/MND. This presentation concerned part of the first phase of the research, a qualitative study exploring which factors influence quality of life in ALS/MND by thematically analysing semi-structured interviews with 19 ALS/MND patients. Three core factors associated with quality of life were identified. These were ‘enjoyment of life’, ‘significant others’ and ‘self-identity’. Five influential factors were identified which contribute to these core factors. These were whether patients had a ‘half-full’, i.e. optimistic, approach versus a ‘half-empty’, i.e. pessimistic, approach, whether the patients locus of control was internal or external, interpersonal effect (social factors), spirituality (by providing a sense of purpose and personal worth) and environmental factors (e.g. does the patient feel their environment is appropriate for the end of life?). The speaker emphasised the importance of a patient centred approach ALS/MND care due to individual differences between patients.

All the presentations were thought-provoking and informative and made important suggestions for clinical practice and future research. I enjoyed the 24th International Symposium very much and hope to be able to attend the event again one day.