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Understanding anxiety experienced by young males with Duchenne muscular dystrophy

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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 January 2024.

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Prof. Aartsma-Rus reads and comments on the paper titled: Understanding anxiety experienced by young males with Duchenne muscular dystrophy: a qualitative focus group study.

Today's pick is a publication by Trimmer et al in @WorldMuscleSoc  journal Neuromuscular Disorders on understanding anxiety in young males with Duchenne. DOI: 10.1016/j.nmd.2023.12.002

Duchenne is caused by lack of dystrophin. This results in muscle wasting and loss of functional abilities. However, dystrophin is also expressed in brain and a significant number of patients also have cognitive and behavioral problems and learning difficulties.

Anxiety is more prevalent in individuals with life limiting diseases (18% vs 7% in typical 5-19 year old children). However, in Duchenne it is reported at 24%. This suggests that there may be an extra component due to lack of dystrophin in brain.

Here authors performed a specific study into anxiety in Duchenne individuals age 7-18 years from the UK and their parents. 18 children participated and 16 parents filled out the parent report questionnaires. 11% of the group was diagnosed with anxiety.

Anxiety scores overall were higher for the Duchenne individuals. 41% of Duchenne participants had social communication problems and 28% was diagnosed with an autism spectrum disorder. There was no intellectual disability in the participants.

20% of participants had emotional and behavioral symptoms, compared to 6% for typical individuals between 7 and 18 years. After analyzing the parent reports, authors performed focus groups with the patients, where they split them into younger and older participants.

This revealed patients had high levels of catastrophic conclusions (worries about extreme eventualities like tsunamis or fatal accidents), rigidly held anxieties (worry loops that you cannot get out off) and extreme distress. The younger patients also experienced meltdowns.

Patients worried about how they would be perceived differently and whether new locations would have accessibility issues. Parents also worried about death, but the children did not mention this. The impact of anxiety was lack of sleep or even vomiting on the way to school.

Some patients were bullied – something the parents appeared to be not aware off. Parents reported feeling helpless to help their children and being anxious themselves as well. Patients coped with humor, gaming, focusing on what they have rather than what they have not. However, some also mentioned 'taking it out on the ones you love'. I commend the authors for generating an environment where the patients felt comfortable discussing these issues – participants mentioned specifically that they benefitted from the focus groups.
Authors discuss that parents mentioned that they looked for help but were not satisfied with the mental healthcare provided by the UK healthcare system. Also, it appears that the anxiety in Duchenne is due to a combination of biological, social and environmental aspects.
Authors suggest cognitive behavioral therapy as a way to help patients and parent cope, but also peer groups. They discuss that in their group autism spectrum disorder was more prevalent than in the overall Duchenne population and also that there might be been a recruitment bias. i.e. those experiencing anxiety may have been more likely to participate in the study. However, the study was not to assess the prevalence of anxiety, but the quality and in this they succeeded. They stress that no patients with intellectual disability participated

This may have an impact on anxiety. So more work will be needed, but it is already clear that healthcare professionals need to screen betterfor anxiety and then also offer help. Ideally mentalhealth professionals would be part of the multidisciplinary teams.

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.