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#apaperaday: Decreased quality of life in Duchenne muscular disease patients related to functional neurological and cardiac impairment

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Decreased quality of life in Duchenne muscular disease patients related to functional neurological and cardiac impairment

Today’s paper is from @FrontiersIn neurology by Jurikova et al on quality of life in Duchenne and neurological and cardiac aspects that influence quality of life. A study in a cohort from Czech Republic DOI: 10.3389/fneur.2024.1360385

Quality of life is a person’s perception of their position in life. This has physical aspects, but also relationships, independence, mental health, and personal beliefs play a role. Duchenne is a progressive disease, where physical health deteriorates with time.

Authors here wanted to see whether there is a relationship between physical decline and quality of life measured by the generic EQ-5D and the NMD specific PEDSQL3. They did this in a cohort of 37 patients aged 8-18 years.

As expected, non-ambulant patients scored lower on mobility-related aspects of the quality of life (QoL) scales. Patients taking ACE inhibitors scored better on movement. If I understand correctly, better upper limb function was correlated with lower movement scores.

Patients with worse heart pathology scored higher in anxiety. There was no impact on the use of steroids or the need for assisted ventilation on QoL. Patients scored their QoL higher than parents (proxy scores). This has been reported before.

Younger patients reported more tiredness, which is expected as these are still ambulatory. Authors discuss that this is a limited cohort and it is difficult to generalize as QoL is also influenced by cultural aspects and the health care and social possibilities that vary.

It is good to study QoL and also aspects that influence it, in order to identify gaps and try and find solutions or offer help or tools to patients and families.

I am still puzzled why the lower QoL was found in patients with better upper limb function. Perhaps this is because patients with better upper limb function are more likely to be in the midst of puberty, which can have an impact on QoL as well.