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: Measuring carer quality of life in Duchenne muscular dystrophy: a systematic review of the reliability and validity of self-report instruments using COSMIN.
Today’s pick is from Health and Quality of Life Outcomes by Carlton et al as part of Project Hercules from Duchenne UK and others, focusing on quality of life questionnaires for informal Duchenne carers. Doi 10.1186/s12955-022-01964-4
Informal carers are carers providing care to patients with whom they have a nonprofessional relationship (eg parents, adult siblings, friends etc). The study focuses on Duchenne, a progressive disease leading to increased dependence on care.
Patients progressively lose muscle function. With improved care survival has increased to the thirties for many patients in the Western world. The disease has an impact on the patients but also on the informal caregivers as they need to provide more care but also see progression of a family member or friend. Known effects are lack of sleep, reduced psychosocial wellbeing, relationships, family resources, and increased physical burden. This also impacts the wider family. When treatments are approved they should have an impact on patients and carers.
Quality of life scales should be reliable and have good validity. They should be relevant, comprehensive (covering all aspects) and comprehensible (questions understood as intended). Here authors did a major study to assess if available quality of life scales suffice.
To do this authors use the COSMIN approach. Sadly the results can be summarized as: a lot of work revealed none of the scales were sufficient. Often carers were not involved in developing the scales. The best scale appeared to be the PedsQL family impact module.
However more work is needed to confirm this (currently data on the scale for Duchenne is of low quality) and see if adaptation of the scale is needed. Authors outline that for many scales evidence for validity is missing which is not the same as the scale does not work.
They outline limitations to their study: UK informal carers tested the different tests but due to the large number of different tests subsets of carers did different scales. Furthermore all carers were from UK and there may be differences due to culture or health care situation.
What is clear is that more work is needed in this area! Finally a shoutout to all informal carers for all the work they do for Duchenne patients! And to all carers in general. Huge respect for the work you do!
Pictures by Annemieke, used with permission.
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.