New publication: health-related quality of life in myotonic dystrophy type 1 – a systematic review

Our new systematic review by Landfeldt et al on health-related quality of life in myotonic dystrophy type 1 (DM1) is now available online.

DM1 is the most common muscular dystrophy in adults. It is a multisystem disorder that may have a wide range of complications that affect quality of life. In this systematic review we looked at all published articles that reported results on health-related quality of life in adult-onset DM1. Most studies used the SF-36 or the INQoL, which are standard questionnaire-based methods for assessing quality of life. Overall, our review found that the condition does affect quality of life across a wide range of domains, but also that there is substantial variability in the estimates reported between studies. Our results should inform the design and selection of endpoints for future patient trials of new interventions. They also reveal the need for a patient-centred approach to disease management that takes into account the specific domains that each patient needs most support in, and suggest that caregiver burden should also be examined in DM1.

The article is available on the journal website here (open access)

Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review. Landfeldt, E, Edström, J, Jimenez-Moreno, C, van Engelen, BGM, Kirschner, J, Lochmüller, H et al. Patient. 2019. PMID:30714084

Abstract

Background
Adult-onset myotonic dystrophy type 1 (DM1) is a chronic, multisystem disorder that leads to disability and premature death.

Objectives
The objective of our study was to conduct a systematic literature review of the health-related quality of life (HRQoL) of patients with DM1.

Methods
We searched Embase, Web of Science, and PubMed for English language full-text articles reporting results from studies of HRQoL in patients with adult-onset DM1 published between 1 January 2000 and 21 February 2018. We excluded reviews, editorials, and studies reporting results for a sample with fewer than five patients (to allow for meaningful inference).

Results
The search identified 266 unique publications. Of these, 231 were excluded following title and abstract screening and 16 after full-text review, leaving 19 articles for data synthesis. We found 15 articles measuring the HRQoL of patients with adult-onset DM1 using the 36-Item Short Form Health Survey (SF-36), six using the Individualized Neuromuscular Quality of Life Questionnaire (INQoL), and one using Cantril’s Ladder. Available evidence shows that patient HRQoL is impaired in DM1, mainly due to compromised physical health, but also reveals that substantial heterogeneity exists in estimates across studies.

Conclusions
HRQoL in adult-onset DM1 has been extensively studied using the SF-36 and the INQoL, but current estimates are inconclusive, and little is known of the impact of the disease as measured using other instruments. Our data synthesis should help characterize the patient burden of DM1 and inform future studies of HRQoL in this indication.

hrqol-dm1

Read next...

New Publication: Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

We were pleased to collaborate with colleagues in the UK, India, Germany, and Spain on this brief communication reporting three…

Conference Announcement: MITO2019 in Toronto 8-9th Nov

MITO2019 is the annual meeting for mitoNET and the MitoCanada Foundation and serves as the main education & networking event…

A new arrival accompanied by a new publication

The Lochmüller lab is pleased to welcome Dr. Emily O’Connor to the group in Ottawa. Emily marked her arrival in…

New Publication: Analysis of the functional capacity outcome measures for myotonic dystrophy

Being able to accurately and reliably asses functional capacity in people with myotonic dystrophy type 1 (DM1) is paramount to…

Foundation grant success for the Lochmüller Lab!

We are thrilled to announce that our Foundation Grant application on Precision Health for Neuromuscular Diseases (NMD) has been funded…

New publication: De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany

Patients with long-term, complex conditions like neuromuscular diseases may receive diagnosis, care and treatment in several different centres, each of…

New publication: Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

How can we use phenotypic descriptions to aid genetic diagnosis starting with hundreds of rare variants from next-generation sequencing results?…