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Spinal muscular atrophy (SMA): adult care pathways in Slovenia

Professor Blaž Koritnik gives his personal views on the care pathways in Slovenia for adults living with spinal muscular atrophy (SMA).

Professor Blaž Koritnik gives his personal views on the care pathways in Slovenia for adults living with spinal muscular atrophy (SMA). He emphasises the value of multi-disciplinary care and shares ideas for improved transition from paediatric to adult care

Written by Geoff Case, RARE Revolution Magazine

Professor Koritnik, can you please introduce yourself and the work at your centre?

I’m a neurologist and a clinical neurophysiologist, and I’m head of the Institute of Clinical Neurophysiology, University Medical Centre, Ljubljana.

In Slovenia, we have a single centre that receives all the referrals for neuromuscular patients. We have a group of 14 neurologists, some of whom specialise in neuromuscular diseases. We also have a multidisciplinary group of other healthcare professionals, which has mainly developed to meet the care needs of patients with motor neuron disease. This model has translated well to other neuromuscular diseases, so I think it is an example of how things can be organised well. Currently, we have about 80 adult patients with SMA in Slovenia, and we regularly see and treat many of these patients.

What is the value of multidisciplinary care in SMA?

Adult patients with SMA are often very self-sufficient and very good at coping with the condition by themselves: they see themselves as people living with a long-standing condition who only become patients if there is another health problem.

Traditionally, they were not really looking for regular neurology appointments, so we only saw patients if there were complications, and the relationships with health professionals were not strong.

When new drugs became available, that changed the relationships and we set up new care pathways with regular follow-ups, including collaboration with other specialists.

I think this multidisciplinary approach is a great add-on to the treatments themselves. We know that SMA is not only a neurological disorder; it also brings many different problems like orthopaedic problems, endocrinology problems, sleep problems, and so on. I think our patients greatly benefit from regular opportunities here to consult with other specialists.

For example, we have a patient who is doing very well on a disease-modifying treatment, but we realised that he has diabetes, which was probably there for quite a while but not recognised. He also had severe obstructive sleep apnoea, and we wouldn’t have found that without our having referred him to a sleep lab. Now he receives treatment for these two conditions, and I think this has improved his quality of life.

What are the treatment goals for adults with SMA?

From the early days when treatments became available, it was obvious that treatment goals for adults and paediatric patients should be different. Actually, this was a concern for us because we didn’t know whether adult patients would hear news of very positive results in children and have unrealistic expectations.

We knew that we should expect less improvement in adults, but we didn’t know how patients themselves would understand that. Looking back, their expectations were similar to ours; we were all aiming for stabilisation of the disease and patients accepted that as reasonable and enough for them to go through with treatment.

How has the transition process from paediatric to adult care changed over time?

In the past, transition took place at different ages, sometimes even after the age of 30, because some patients were so used to being seen at the paediatric department that they did not wish to change. Some of them would come to the adult department sooner, some of them really late, and some of them never, actually. Now, with the new treatments, it would be impossible for the paediatricians to take care of all the older patients. Although we still see some patients transition later, 18 is now the average age for transition.

Also, the landscape has changed because of the treatments that are available. Now, we see patients who previously would probably not have survived into adulthood, so are already seeing patients with a more serious clinical presentation. In the past, SMA type 1 was almost never seen by adult care teams. Now, we expect that most of these patients will reach adulthood and transition to adult care.

What improvements could be made to the transition process?

I think it’s very important to have flexibility around transition and plan it on a patient-to-patient basis. Within the care pathway, I think it would be good to have at least one introductory meeting where the patient, the caregivers and the care team are present to discuss everything.

We collaborate closely with our colleagues from paediatrics, who are just across the road, but paediatrics is organised very differently from adult care because they have all the specialties—cardiologists, pulmonologists and so on—within a single building. Within a single visit, they can easily perform all the assessments and consultations that are needed.

In adult care, it’s a different story because there are separate waiting lists for the different specialties. So transition from paediatric to adult care is always at least a slight disappointment for the patient and their carers because it’s almost impossible for us to offer that well-structured combination.

But we certainly do our best to follow the paediatric example and try to combine appointments with different specialties in outpatient visits, if possible. For example, when patients come to see their neurologist, our respiratory therapists assess how well they are responding to the non-invasive ventilation they have at home.

I think there’s still a lot to do to achieve closer collaboration, but I think the beginnings are here. We now know it’s important to have a combination of all healthcare professionals at a single site, and we are doing our best to offer this.

How can we better integrate mental health support into adult care?

Mental health is an important aspect of the disease and we definitely don’t have support integrated into adult care at the moment. I think the paediatric side do a better job: they have psychologists available, at least on the ward, who see the patients and talk to the parents.

If adult patients are not requesting support, that doesn’t mean they don’t need it. Maybe the need for it will increase as patients see it’s available—they may need to see what the support looks like first. And then maybe this aspect will be developed in the future, in parallel with the needs of patients.

How is shared decision-making important in the care of adults with SMA?

As I mentioned, when the first of the treatments became available, many adult patients did not regularly see a neurologist, and even didn’t have their own neurologist. So we contacted patients by letter to inform them that major changes were coming regarding care in SMA and about half of them enquired about treatment.

But there is a group of patients that have decided not to have treatment, and I think we should respect their opinions; it’s a patient’s right, and we shouldn’t really push them. If they’re informed about the possibilities, that should be enough. The Muscular Dystrophy Association of Slovenia has done lots of awareness-raising, through talks and meetings, and we have also collaborated well with them on these projects.

For patients who want to explore treatment options, it’s about shared decision-making. So based on our assessments, we would advise them about the different options, but many of the decisions would be patient-centred because, for adults, there are no clear guidelines or recommendations regarding which of the new treatments is better for individual patients. So at the moment, we still follow the patient’s wishes and preferences.

Portrait photograph by Andrej Križ.

The interview transcript was edited for length and clarity.

This digital spotlight has been made possible with financial support from F. Hoffmann-La Roche Ltd. The content was developed in collaboration with SMA Europe and F. Hoffmann-La Roche Ltd. All opinions are those of the contributor. RARE Revolution Magazine retains all copyright.

Date of preparation: April 2024 – M-GB-00016465

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