New Paper: Adult care for Duchenne muscular dystrophy

My latest publication, Adult care for Duchenne muscular dystrophy in the UK, is now available via SpringerLink under an Open Access license and will be published in a forthcoming issue of the Journal of Neurology.

Adult Care for DMD in the UK paper

Press releases are available from the Muscular Dystrophy Campaign and Newcastle University, so I will provide a summary of the background to the study and our findings.

The paper compares the care experienced by UK adults living with Duchenne muscular dystrophy (DMD), a life-limiting progressive neuromuscular condition, with that received by children in the UK and by adults in Germany, Denmark, and Eastern Europe. The paper stems from the CARE-NMD project, which investigated care across seven European countries, with which I was involved while working for TREAT-NMD.

Life expectancy for DMD has significantly improved over the past four decades thanks to improvements in care, and many adults now live with the condition into their thirties or even forties. However, it remains a very serious disease that needs high quality multidisciplinary care in line with international guidelines. Progressive complications develop during the teenage years and adulthood particularly affecting the heart and lungs. For the growing community of adults who live with DMD, frequent monitoring and interventions as required are crucially important pillars of good care.

Findings

A significant proportion of UK adults do not receive care in line with international guidelines

All of those with DMD aged 10 years or older should receive at-least-annual heart checks (echocardiograms), and those who are no longer able walk should have certain lung function checks at least every six months. However, 19% of respondents received neither of these at-least-annually, and more than four in ten received only one or the other at-least annually.

Care for adults with DMD lags behind that for children: transition care is problematic

Adults with DMD are less likely than children to receive the recommended heart and lung checks for their age. In DMD, as with other chronic conditions, transition of care as someone moves from childhood to adulthood is often challenging.

Comparing care for three age groups – the under–10s, those aged 10–17 years, and adults – we observed that those aged 18+ are less likely than those aged 10–17 to receive at-least-annual heart and lung function checks. As the teenage years are typically the time when lung and heart problems manifest, the drop-off in care at this time is particularly concerning.

Adult attendance at specialist clinics is lower than child attendance

Adults are less likely to attend a specialist neuromuscular clinic than children. In fact, although the proportion with 6-monthly attendance at a specialist is somewhat higher than other countries, more than one in five UK adults (22%) never attend a specialist at all – the highest rate of rate of total non-attendance amongst the three Western European countries we surveyed.

This is concerning, because…

Attendance at specialist clinics is associated with good practice care

Across countries, we also found attendance at a specialist neuromuscular clinic is associated with recieving at-least-annual lung and heart function checks, better provision of information to patients, and higher satisfaction with care.

Access to physiotherapy in the UK is worse than elsewhere

Access to professional physiotherapy is poor for both children and adults in the UK, and in both cases is lower than any other country we surveyed. In the UK less than one quarter of adults reported any kind of professional physiotherapy compared to approximately 9 in 10 in Germany and Denmark, and half of patients in Eastern Europe. Almost two-thirds of UK adults report that they formerly received physiotherapy but no longer do, again suggestion difficulties at transition.

Social inclusion of adults in the UK is poor

The inclusion of UK adults with DMD in wider society lags behind other Western European countries. The UK has the highest proportion of adults living at home (92.9%) and the lowest independently or with a partner; it also has lowest proportion in either employment or education (25.6%).

What is the good news?

The number of nights in hospital experienced by adults with DMD in the UK was lower than elsewhere. For children, the UK also has both high satisfaction with care, and good adherence to the care guidelines. It is also worth remembering that many adults do get good care – but as these data show, there are a sizeable minority who do not. Many clinicians treating neuromsucular diseases such as DMD – and the teams they lead – work very hard to deliver the best possible care, often with exceedingly limited resources.

So what next?

The study highlights shortcomings in care compared to published guidelines for some adults in the UK. As far as we know, this is the first time that care for adults has been examined in this way, and compared to care for children and care for adults in other countries.

The good news is that simple measures can have a big impact; regular checkups 1–2 times per year as part of compliance with existing care guidelines for all adults would be an excellent start. According to the respondents to the survey, most adults already receive reasonably good care – the challenge is to keep improving care in light of improved knowledge, and to ensure all adults with DMD have access to it. This is more important than ever before, as more adults live longer with DMD – and don’t let the condition hold them back.

Thanks

I’d like to thank all the work of my co-authors on this paper, which resulted from work done over the past 5 years by many collaborators around Europe. My thanks therefore also go to the rest of the CARE-NMD project team, the project partners and collaborators, especially Action Duchenne (who run the UK DMD registry), the Muscular Dystrophy Campaign, and DMD Pathfinders.

Finally, and most importantly, I’d like to thank all of the people living with DMD and their families for completing the CARE-NMD survey and providing us with information about the care they receive. Without their input, this work could not have happened.

My first paper: one year on

paper_header_2

Today marks one year since the publication of my first academic paper in the Orphanet Journal of Rare Diseases (OJRD), and with several other papers currently at various stages of completion, I thought I’d take a quick look to see how my first has fared over the last 12 months[1].

Context

The paper was written while I worked for the TREAT-NMD Alliance, an international translational medicine research network connecting scientists, clinicians, patients and patient organisations, and the pharmaceutical industry in the neuromuscular field. In rare diseases, finding appropriately equipped clinical trial sites and patient populations is often tricky, and the Care and Trial Site Registry (CTSR) is of the resources TREAT-NMD provides to overcome these challenges. The paper gives an overview of the CTSR and analyses the data it held on Duchenne muscular dystrophy (DMD).

The journal

The OJRD is an open-access journal, with a current Impact Factor of 3.96[2], and with papers being free to download and re-host elsewhere. For that reason, the access data below is an underestimate: a Google Scholar search currently indexes “11 versions” hosted in various places, and only data on BioMed Central websites are tracked, despite being indexed in other bibliographic databases and the full-text being included on Springer Link.

Some data

altmetric

The publisher itself provides basic metrics, and as of 22nd October 2014 the paper had been accessed 3183 times via PubMed Central and is therefore “Highly Accessed”. PubMed Central also includes the paper’s Altmetric score of 21, though one has to click through for full details and the score in context. Although the utility of Altmetric scores is debated, especially their ‘social media’ component, they allow comparison with other tracked articles. The paper is apparently the fifth-highest scoring article in the OJRD (98th percentile); is the top scoring article amongst those of similar age (± 6 weeks); and is in the top 5% of all 2,446,094 articles tracked by Altmetric. The article has also been cited in 2 other papers, both written by people with whom I previously worked.

So what does it all mean?

Well, it is nice to know that the paper has been accessed (and hopefully read)! More seriously, this points to the fact that the jury is still out on whether “accesses” or Altmetric scores are good indicators of the utility of an academic paper to others. Citations, rather than other metrics, are the main way in which academic prestige is accumulated, and so from this perspective the paper is not a particularly high flier! However, the subject matter of the paper also mitigates against this: it does not describe a new gene or other discovery, but a tool which may be of use to the neuromuscular field in conducting trials, so I would not necessarily expect a particularly high citation count.

geographicI suspect metrics are rather more useful, however, in terms of raising the profile of research and beginning to understand your readers. This is an ever present concern given the focus on “impact” by funding bodies such as Research Councils UK. In turn, this may have real-world effects: in the case of my paper, by raising awareness of the utility of the CTSR in clinical research, it may help with the planning and conduct of clinical trials.

Since I wrote the paper, the CTSR has expanded to included neurodegenerative diseases as well as neuromuscular diseases, and now has an integrated Phenosearch tool to allow “match-making” amongst registered researchers with undiagnosed patients – ultimately improving the knowledge in the rare disease field, and hopefully improving the treatment available to patients. For me, that is the most rewarding part of having published this paper.

  1. All values in this blog post will, by their nature, be out of date fairly soon…  ↩
  2. The actual value of Impact Factors is the source of much debate and criticism, much of which I agree with, but this is a much bigger discussion for another time…  ↩

Regular Expressions with RegExr

RegExr Screenshot

RegExr Screenshot (Sunil Rodger)

Regular expressions are incredibly useful when programming for pattern matching against strings, but they can be quite confusing when you’re first getting started with them. I’ve been using them intermittently for several years (scripting is not my day job) and certainly cannot claim to have mastered their use.

RegExr is a fantastic tool for checking that your regular expressions work as intended, or just playing with them to see what you can do. Although there are apps dedicated to this which are more fully-featured, such as Oyster for the Mac, RegExr is a very good starting point.