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 Twitter account. See below the overview of April 2022.
Prof. Aartsma-Rus reads and comments on the paper titled: Martial Arts Training for Boys with Duchenne Muscular Dystrophy
Today’s pick is from Pediatric Exercise Science by Stessel et al on martial arts training for Duchenne patients. Work funded by Duchenne Parent Project the Netherlands and also presented at Duchenne Festival. DOI 10.1123/pes.2021-0117
Duchenne patients lose muscle tissue & muscle function progressively. This is because without dystrophin muscles are sensitive to damage when they are being used. Not using the muscles (to prevent the damage) is not a solution, because inactivity also leads to breakdown of muscle.
So patients need to be active, but in a tailored way so they do not do harmful exercise (eccentric exercise, such as walking downhill, or training with heavy weights). Due to the physical disability, patients can become socially isolated and depressed.
The authors offer martial arts training tailored to the specific problems of Duchenne patients as a potential exercise to not only stay active but also improve the sense of wellbeing, as that is something that martial arts often achieves.
Using a Delphi method with a focus group of experts, interviews with experts and consensus building they produced a martial arts training program based on an existing program but adapted for Duchenne. Experts included martial arts trainers, rehabilitation physicians, psychologists, researchers, parents, patients, neuropsychologists, occupational & a representative of patient organization). The program consisted of 12 weekly 1 hour trainings. Twelve boys with Duchenne who could still touch the top of their head with both arms were included.
Two patients did not complete the training. One was recruited into a clinical trial and therefore had to drop out of the martial arts program. The other patient could not combine it with school as it was too fatiguing. The 10 other patients had an attendance rate of 91%.
Reasons for not attending were illness, illness of parents, lack of transportation and holidays. There were 11 falls during the program, but none resulted in injuries. Some patients had muscle pain after the training, but this resolved within 24 hours.
Authors looked into wellbeing and self perception with the SPPC/SPPA scale. Here they did not see a clear difference (4 patients improved, 6 declined). Functionally patients were stable or improved slightly. Using quality of life scales (PARS III and SDQ) most patients improved.
Strength and range of motion was decreased for most patients. Note that the functional effects are as expected. You do not expect a decline in 12 weeks functionally, but reduced strength was expected. This is not due to the training but due to the disease.
After the program patients and parents were asked to evaluate it. Most patients reported improvements in setting boundaries and collaborating with others and self confidence. More than half of the patients and parents wanted to continue beyond the 12 week trial.
Authors also list recommendations from patients & parents: a good spot to rest, trying to find a solution for the transportation issue that was sometimes a logistic challenge and adapting the program to the age – patients were 6-13 years old and teens thought the program childish.
Authors discuss why no improvement was measured on the wellbeing scale (SPCC/SPPA). The participants indicated they found the questions of this scale difficult. Furthermore, this scale was developed for healthy individuals and reference data are from healthy children.
It is possible the scale was not sensitive enough to pick up effects for Duchenne patients or did not ask the right questions. Authors stress that this was a pilot, so no conclusions can be drawn as it was a very small group and there was no control group without training.
They finally give recommendations to improve the training in the future for Duchenne patients:
I am not an expert in this area so it is difficult to be critical or find flaws. However, I do like the concept of using martial arts as a ‘holistic exercise’ of body and mind. Hopefully the work will continue and be useful for more Duchenne patients.
Pictures by Annemieke, used with permission.
About Professor Annemieke Aartsma-Rus
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.