#apaperaday
Prof. Annemieke Aartsma-Rus is taking on a challenge by reading and commenting on a paper a day. She shares her insights, findings and thoughts via her @oligogirl.bsky.social Bsky account. See below the overview of March 2025.
***
Prof. Aartsma-Rus reads and comments on the paper titled: Factors that affect participation by adults with Duchenne muscular dystrophy.
#apaperaday This pick is from @journalnd.bsky.social by Merkenhof et al. Study with active participation of patient and patient representatives Doi 10.1177/22143602251324847
Transition to adulthood is a challenging time for anyone, but more so for Duchenne patients. At the time where they want to be more independent they require more help due to loss of function. Now that most Duchenne patients live into the 3rd-5th decade more focus is needed on how they can live fulfilling lives and which gaps exist to prevent them from the desired level of participation and other aspects.
Authors studied this here, starting with a literature review and a focus group with a Duchenne adult, patient representatives and health care professionals and experts in home care. Then interviews were done with Duchenne patients and parents and a survey was made to cover the most important aspects. 43 Duchenne patients and 30 parents participated in the survey.
The Duchenne patients on average were 24 years old, and all were 16 and older.
Most lived with their parents and most of the care was provided by the parents. Patients over 30 years also had care provided by external providers.
63% of patients in the study had education beyond highschool.
33% had a paid job and 22% did volunteer work.
Patients outlined that being independent and making achievements was important to them. The majority said they would not live as well elsewhere as at home.
Most were satisfied with the current leisure activities. Half were satisfied with the aids and tools provided. Most would like more input in the choice of tools. Most were also satisfied with their social contacts though challenges were mentioned: accessibility, outdoor mobility and self confidence.
Many find having a job important but also say it is challenging due to distance, mobility and accessibility and self confidence.
All wanted an intimate relationship and 71% thought it would be possible. This is not something they felt they could discuss well with their parents.
Note that despite the limitations and desires the vast majority was satisfied with their situation. 30 parents took a survey that also focused on burden of care. Most parents in the survey lived with their Duchenne son and a partner and were employed.
The most challenging aspect was finding time for their own leisure and worries about the future. They wanted their son to be independent but most did not think having a job was realistic. Most were not satisfied with the leisure activities of their sons (though the patients were!).
Parents also gave advice to other parents: make sure you do things outside of the family alone and as a couple and start early with delegating care to others. Authors discuss that in the Dutch setting most patients live at home while in eg Denmark most adults with Duchenne live independently.
Compared to earlier studies patients are more independent & work more, but there is room for more improvement. Sexual health is a topic that deserves more focus as flagged by an earlier #apaperaday Limitations of the study are the sample size is small and that only one country is represented. Also there is a selection bias towards more educated patients and parents to participate, and less patients and parents who are so consumed with care and other burdens/challenges that there is no time for participation to research.
Authors end that the main message is that we need to focus more on opportunities for adult Duchenne patients and on making things possible than on limitations and how things would not work. Also focus should be on giving also the parents more support per se.
Prof. Dr. Annemieke Aartsma-Rus is a professor of Translational Genetics at the Department of Human Genetics of the Leiden University Medical Center. Since 2013 she has a visiting professorship at the Institute of Genetic Medicine of Newcastle University (UK).
Her work currently focuses on developing antisense-mediated exon skipping as a therapy for Duchenne muscular dystrophy. In addition, in collaborative efforts she aims to bridge the gap between different stakeholders (patients, academics, regulators and industry) involved in drug development for rare diseases.
In 2013 she was elected a member of the junior section of the Dutch Royal Academy of Sciences (KNAW), which consists of what are considered the top 50 scientists in the Netherlands under 45. From 2015 to 2022, she was selected as the most influential scientist in Duchenne muscular dystrophy by Expertscape.
