Transitioning successfully from paediatric to adult care in Duchenne muscular dystrophy
Thankfully, increasing numbers of boys with Duchenne muscular dystrophy (DMD) are reaching adulthood. Ensuring they have continuous high-quality care during their transition from paediatric to adult care teams must be a priority. Professor Thomas Sejersen explains how their transition should be seen as a collaborative process rather than a single event. He looks forward to new guidelines that he hopes will improve the boys’ experiences
This article was developed and sponsored by PTC Therapeutics. Prof Thomas Sejersen has received an honorarium from PTC to conduct this interview for this article.
The challenges around transition
When Professor Thomas Sejersen first started treating people with Duchenne muscular dystrophy (DMD) more than 30 years ago, adult neurologists had started seeing more patients transitioning into their care for the first time. The novelty of the situation was such that these young men were known then as “new survivors”. Their survival was due to new therapies and improved standard of care guidelines, which were being followed more appropriately. Some of the life-prolonging improvements were “very simple”, such as giving respiratory support when needed.
These guidelines have evolved further since, he explains, but much more still needs to be done.
“Around the world, I think very few young men with DMD would say they’d experienced genuine transitioning… most would refer to a moment where they heard ‘today is our last visit, and now we have referred you to… for future care’. This is, of course, not how we would like it.”
Thomas would like to see much more focus on the transition process in DMD. He believes transition may be “even more important and difficult” than in many other chronic diseases because Duchenne is a progressive disease, therefore, survival, longevity and well-being all depend upon continuous care.
Unfortunately, however, the rarity of DMD means that many doctors do not see or manage patients who are living with the condition, so they lack experience and don’t have a good understanding of the current guidelines. Also, with fewer patients having reached adulthood in the past, there are still too few specialists outside the paediatric setting who really understand the disease. To compound those problems, in several countries, adult sites may not have the necessary resources. “There are few adult sites where there is optimal care. It’s not because the adult teams don’t want to follow the guidelines, but because they don’t have the resources in many cases.”
Thomas notes that the gaps around expertise and resources mean that care guidelines are “frequently” not followed for cardiac and respiratory care, despite their critical importance at this stage of the boys’ lives. Treatment and management recommendations are “very clearly stated” in the guidelines, but Thomas has still had discussions about transition with adult neurologists who have asked about ongoing care with their patients. “There’s a lot that can be done to retain function in areas that may be even more important for the patient—respiratory function, cardiac function, fine motor skills such as making coordinated hand movements—even if walking has been lost.”
“I think there’s been a much, much better understanding of the disease over the years and a better understanding of the need for a transitioning process. However, there’s still a lot to do.”
According to Thomas, an effective transition process is one that “allows the young man to get a better grip of his own life”. As such, it needs to start early, it needs to be gradual, and it needs to take account of the boy’s individual needs. Along with other experts in the field, he believes the transition process should begin in a boy’s early teens. “It is an advantage to have a longer period: you need to individualise the process for the child, to best help them grow into independence, and that takes time.”
Boys with DMD have a “wide panorama of needs”, Thomas notes, with a sizeable proportion having challenges such as autism spectrum disorders, ADHD, OCD or cognitive issues. That means it is more difficult for these boys to have complete independence as adults. Transitioning needs to be tailored around what can be expected once they are adults, and how best to support them at that stage.
Involving the boys in discussions about their care should be standard, Thomas says: “It’s their life and we’re there to support them, so to me it’s obvious that they must be involved.” He believes that paediatric teams tend to focus on the parents when they are talking about a boy’s care—probably because they often see themselves as “extra parents”. However, as the boy becomes a young man it becomes increasingly important that he is given more of a voice.
“I think many of the people who care for Duchenne boys over a span of time recognise they are frequently very quiet, but then something happens in their teens, and they become more social and use their linguistic abilities much more than before.” Thomas believes that paediatric care teams would be surprised to see how often this happens, so he recommends they “keep inviting the boy to have discussions, at least for a while, even if there’s silence at first”.
“You should not think that his silence will be forever.”
Thomas acknowledges that this period may be a little awkward at first, but it may be required to help the boy reach the goal of understanding what will happen after he leaves paediatric care and how his care might change after transition to adult services. These opportunities also give the young man the chance to share anything he is worried about. “We should all be aware that what is worrying one individual may not worry another. I think it is for us to invite the young men to bring up what is on their mind and not be afraid of asking questions. Then we’ll see how we can help to sort things out.”
Incorporating these aspects of best practice means that transition should not be seen as “a specific moment” but rather “a continuous process over a long period of time”: the young adult, his parents and his doctors all need time to adapt. “We need to make the young man and the parents aware of what is ahead and what to expect, including less frequent visits. They must be made aware this is the case in most places.”
“We are not at all good enough in starting transition in a timely way, acting early, taking the time for individual talks with the boy, and making individual plans about how to reach adulthood, but this is where we would aim to go.”
Transition in practice
The way transition is managed varies “tremendously” between countries and even between centres, Thomas points out. Where he practises, at Karolinska University Hospital (in the Stockholm region of Sweden), boys have a dual transition from paediatric to adult care: one at their hospital and another at their habilitation centre.
Habilitation is a form of specialised and continuous care that helps people learn new skills (whereas rehabilitation helps people relearn skills that were lost because of injury or illness).
The habilitation centre supplements the medical care given at the hospital and the boys visit it regularly. It provides them with continuous monitoring, guides them on how they can manage their disease and gives them suggestions for how they might improve their daily lives. They might visit to attend sessions with a special teacher or psychologist, to have regular physiotherapy sessions, or to test out new wheelchairs or orthoses with the occupational therapist.
The paediatric and adult care teams at the habilitation centre work together to help the young man transition. “These professionals are outside of our local team, but they are still present—and are all important—in the transition process.”
At the hospital, in a parallel but coordinated process, the paediatric neuromuscular team (a paediatric neurologist, who plays a leading role in the transition; a physiotherapist; an occupational therapist; a coordinating nurse; a dietitian) help the young man move between paediatric and adult care teams.
“Many problems in transition could probably be solved by clearer, more transparent communication,” Thomas says. “We are lucky to have good communication between our two adult teams. But in most cases, I think there’s a lot to do to improve it.”
“There’s a tremendous lot to do in transitioning in most places, including ours. One part is to develop, agree on and follow guidelines.”
New guidelines for transition
The standard of care guidelines for DMD were last updated in 2018, with transitioning being mentioned for the first time.2 Thomas describes this as a “breakthrough” because it gave doctors “something to grasp”. Patient organisations have since used these guidelines to create a comprehensive Duchenne Guide for Families, which is available online in many languages.
Now, new guidelines with a specific focus on supporting care teams with transition are being developed. Initiated by PTC Therapeutics, this project “covers an area where there has been a lack of knowledge for decades”, Thomas says. There is not enough published evidence available to inform their creation, so questionnaires will be sent to experts to find consensus on what care should look like across several key areas. In a step he views as crucial, patient representatives have also been invited to give their input.
He hopes the document will help healthcare professionals to check that everything which should be done during transition is done—and in a timely way. “Have you made sure there will be someone in the respiratory team to follow the young man? If there’s autistic behaviour, have you made sure there’s someone to follow that? … Have you made a plan for all the different sub areas that are important for the disease?”
Once the guidelines are complete, Thomas hopes a lay language version will be developed, preferably in collaboration with Duchenne patient organisations, and then shared with families, who “may not know so much about it. It’s not enough that we adult neurologists discuss and agree on how to manage transition. The families must of course be fully aware of it.”
“It’s really about time that we had specific guidelines and I think this document could be a big help. I am really excited.”
Code: ATA/DMD/UK/23/0038 I Date of preparation: August 2023
 Springer Nature; Duchenne Muscular Dystrophy. Available https://www.nature.com/articles/s41572-021-00248-3 [last accessed August 2023]
 TREAT-NMD; The Diagnosis & Management of DMD. Available https://treat-nmd.org/resources-support/care-overview/the-diagnosis-management-of-dmd/ [last accessed August 2023]