Interplay of disability, caregiver impact, and out-of-pocket expenditures in Duchenne muscular dystrophy: a cohort study

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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 March 2022.

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Prof. Aartsma-Rus reads and comments on the paper titled: Interplay of disability, caregiver impact, and out-of-pocket expenditures in Duchenne muscular dystrophy: a cohort study.

Today’s pick is from a journal of patient reported outcomes by Schwartz et al on the interplay of Duchenne patient disability, caregiver impact and out of pocket expenses. Focus on caregivers today, heroes just like patients. Doi 10.1186/s41687-022-00425-2

Caregivers provide crucial care for patients with chronic diseases. For chronic progressive diseases particularly this long term care can result in a negative impact on health and life quality of the caregiver.

Authors here focus on Duchenne, where patients are diagnosed at on average age 5 (after a diagnostic odyssey with symptoms starting much earlier). Patients need a wheelchair around the age of 10, lose arm/hand function gradually and need assisted ventilation around the age of 20.

In addition, there are comorbidities: reduced cognitive capacities, ADD/ADHD/OCD & autism are more prevalent in Duchenne patients and many have learning difficulties. Life expectancy is the 3rd or 4th decade, but also younger patients are at risk due to respiratory difficulties.

The progressive disease makes patients more and more reliant on caregivers. Furthermore, the disease is associated with expenses to e.g. adapt the house, acquire a wheelchair van etc. Here authors studied the interaction between these aspects of caregivers.

566 Duchenne caregivers from the USA participated in the study – all adults, caring for 1-5 Duchenne patients (mostly 1). 75% of the caregivers were female, mothers or father of Duchenne patients (97%), married or living with a domestic partner and most were white (92%).

Nearly all caregivers had health conditions such as back pain, depression, insomnia or arthritis and were overweight. Patients also had comorbidities such as anxiety, learning problems, ADD, scoliosis, sleep problems, overweight and depression.

When looking at expenditure it was seen that some expenses had a negative impact on caregivers (lifestyle, social and emotional), e.g. a new house, installing a lift or modifying the entrance to a house, while modification of bed and bathrooms had a positive impact.

I am not an expert on these things, but I think it is understandable that certain things have more of an impact than others (e.g. moving houses is a major life change for the whole family, while modifying the bedroom makes everyone’s life easier).

I think also there is another aspect of these modifications, i.e. they demark a new disease milestone, which must be hard for the carers (parents) as well. The impact on carers increases when patients become older and need more care, with e.g. fatigue increasing for carers.

Interestingly, authors note carers of very young patients experience a high impact, more so than for patients of 13-17 years. I think this is probably also due to the impact of the diagnosis – from TREAT-NMD Duchenne masterclasses I know that the diagnosis makes a huge impact.

Authors also discuss the positive aspects. Many caregivers stay positive despite the challenges they base, and gain energy from the caregiver experience. They have included a large number of caregivers in their study so this makes data more reliable.

There are limitations though – as acknowledged by the authors: study is cross-sectional & not longitudinal so one can only associate findings, causal relationships cannot be given. Almost all participants are white, so this is not a good representation of USA Duchenne parents.

Finally, health insurance coverage was not taken into account. This is something authors aim to address in future studies. Hopefully they also manage to get a better representation of non-white caregivers. Also, this was fully USA focused, more global studies are needed too.

This is not my area of expertise, so it is difficult to detect flaws. Still I wanted to highlight the paper as the caregiving aspect is often overlooked. I have much respect for caregivers, even more so for those who combine work, caregiving & Duchenne charity (you know who you are :)).

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.

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