The 24th International symposium on ALS/MND took place in Milan at the AtaHotel Quark between the 5th and 8th of December of 2013. As a medical student hoping to pursue a career in Neurology/Neurosurgery it was a great opportunity and a great honour to be able to attend this symposium and hear about the latest research on ALS/MND from the people who are the front-runners in the field. Recently, I was involved in a project looking at the Quality of Life in ALS/MND patients and as a topic of personal interest I am hoping to report on Session 2B titled Autonomy and Quality of Life which took place on Friday the 6th December. This session consisted on 5 presentations and I will give a brief summary of each presentation in this blog.
The opening presentation was titled “To test or not to test, that is the question” and was presented by the co-chair of the session Orla Hardiman representing Trinity College Dublin in Ireland. This presentation was concerned with the genetic testing for ALS/MND and how it is becoming more of a reality as more genes are being discovered. Hardiman referred to the research group lead by the Paulo Gontijo award winner Michael Van Es and how they have found new genes prevalent in the two types of ALS- Sporadic and Familial. The genetic testing is concerned with the latter. She went on to talk about three dilemmas with genetic testing for ALS/MND. The first being the lack of a consensual definition for familial ALS, hence making it difficult to distinguish familial ALS from sporadic ALS. The second dilemma was concerned with the value of screening while there is no current treatment for ALS. The final predicament was concerned with ethical and legal implications of genetic testing of pre-symptomatic individuals such as family members of a ALS patient.
The second presentation was titled “ALS clinics and the emerging challenge of genetics: a worldwide survey” and was presented by Stacy Rudnicki representing research from the University of Arkansas for Medical sciences in the USA, Western University of Canada and the University of Turin of Italy. A survey was carried out in which e-mails to 203 ALS/MND clinics were sent to investigate the response to genetic testing from clinicians. 87 clinics responded and the majority did not have a genetic counsellor or geneticist in their clinic. It was also found that the most common reason for an individual being sent for genetic testing was if they had a family history of ALS/MND. It was concluded that there is a need for guidelines regarding genetic testing in ALS/MND.
The third presentation was titled “Developing a model of patient-centred decision-making for amyotrophic lateral sclerosis multidisciplinary care” and was presented by Anne Hodgen representing research from the University of New Wales in Australia, and McGill University in Canada. A study was carried out to investigate ALS patient decision making and how a model can be constructed to be used by health care professionals to support patient autonomy as the disease progresses. A comparison was done between the perspectives of health care professionals, ALS patients and carers regarding decision making for symptom management and quality of life. Challenges that were highlighted regarding keeping patient autonomy consisted of the continual deterioration of ALS patients and factors such as cognitive decline and behavioural changes. Other factors that could make it difficult to investigate decision making consisted of shock, denial and complexity of decisions. The study concluded that there was a conflict between delivering evidence-based care and when patients wanted to receive this care.
The fourth presentation was titled “Quality of Life. Depression and perceived social support in the course of ALS” and was presented by Dorothée Lulé representing research from the University of Ulm, The University of Tubingen and the University of Wurzburg in Germany. A study investigating the quality of life especially life satisfaction and depression associated with social support was carried out. A range of quality of life measures were taken and patients were interviewed about their perceived social support. It concluded that quality of life was stable throughout the disease for most patients and therefore it was independent from the physical decline seen and a good perceived social support showed lower depression rates.
The session was concluded with a presentation titled “Understanding quality of life in motor neurone disease: qualitative explanations from the Trajectories of Outcome in Neurological Conditions study (TONiC)” by one of my colleagues Hikari Ando representing the Walton Centre in Liverpool, United Kingdom. The TONiC study was carried out to investigate the factors affecting perceived quality of life in ALS/MND patients. This presentation was regarding the initial phase of the TONiC study which involved carrying out semi-structured interviews to identify important quality of life determining factors. After analysing the interviews, four main factors were found to affect quality of life. This included “Social Factors” which encompassed social support and having significant others. “Spirituality” was found to be a factor as it helped patient find a purpose in life. The third factor was “Personal Qualities, this encompassed having a positive attitude and feeling in control. The fourth and final factor identified was “Coping Strategies”, this was shown to be the least influential of the four. The presentation concluded that these factors may present differently in individuals and therefore a more patient-centred approach to improving quality of life would be more efficacious.
I would like to conclude this blog by saying that attending the international symposium was a very enjoyable experience that I will not forget and it has given me great insight into the efforts that are being put into diseases such as ALS. It has also personally motivated me to get involved in future research regarding neurological conditions such as ALS.