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 October 2022.
Prof. Aartsma-Rus reads and comments on the paper titled: The Relation Between Nutritional Intake and Weight in 4-18 Year Old Patients with Duchenne Muscular Dystrophy
Today’s pick is from collaborators Leiden University Medical Center about the relation between nutritional intake and weight in ambulant and non ambulant Duchenne patients by Dietvorst et al in Journal of Neuromuscular Diseases. Doi 10.3233/JND-220796
Obesity is common in late ambulant & early nonambulant Duchenne patients, likely due to a combination of factors: less activity, steroid use, metabolic changes. Overweight however negatively impacts disease progression as it reduces mobility and is related to respiratory problems.
Nutritional recommendations for Duchenne patients include reduced caloric intake (due to reduced activities) and more protein, vitamin D and calcium (due to the chronic steroid use and risk of osteoporosis). However, the calculations are guestimations.
Patients are less active, but likely also have a lower resting energy expenditure (the energy the body needs to maintain itself when not active) – this is due to reduced muscle mass. Authors here compared the nutritional intake of patients with weight.
48 Duchenne patients were included in the study aged 4-18 years, 26 were non ambulant. 41 were on intermittent steroids, 7 did not take steroids. Patients/parents were asked to keep a nutritional diary for 3 days, which 41 managed, 7 kept one for 1-2 days.
Most patients aged 4-8 had an adequate weight, while over 50% of patients 9-13 and 14-18 years had overweight or obesity. Interestingly, the 4-8 year olds ate 290 kcal MORE than needed, while the 9-13 year olds ate 349 kcal LESS than needed.
Ambulant patients had higher caloric intake than non ambulant patients. All groups ate too little fiber and had too little fluid intake. Authors discuss that it is interesting that the older patients eat less than recommended and still are overweight.
They elaborate that metabolic changes in the body (muscle replaced by fat) and steroid use likely play a role here. I agree and I also think this outlines that we apparently do not know enough about the caloric intake Duchenne patients need. More research is needed there.
Authors stress that the lack of eating fibers and too little fluid intake likely contributes to constipation. This is a frequent symptom in non-ambulant Duchenne patients that should get more attention. Fluids and fibers can help, but additional treatment may be needed.
Likely the smooth muscle cells of the gut are impacted by lack of dystrophin as well – so this is not only due to too little fiber and fluids. Note that – as the authors point out – the general Dutch public consumes to little fibers as well – so this is a national dietary problem.
Authors outline the limitations of their study: it was a self report of parents/patients and it was only for 3 days, which may not be a good reflection of the general eating pattern. Authors indicate that more research is needed on this topic.
Especially because ideally overweight and obesity is prevented. Now often dieticians become involved once a patient is overweight. More knowledge about what is an optimal diet for Duchenne patients at different ages can help avoid this.
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.