Measuring quality of life in Duchenne muscular dystrophy: a systematic review of the content and structural validity of commonly used instruments

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Abstract

Duchenne muscular dystrophy (DMD) is an inherited X-linked neuromuscular disorder. A number of questionnaires are available to assess quality of life in DMD, but there are concerns about their validity. This systematic review aimed to appraise critically the content and structural validity of quality of life instruments for DMD. Five databases (EMBASE, MEDLINE, CINAHL, PsycINFO, and Cochrane Library) were searched, with supplementary searches in Google Scholar. We included articles with evidence on the content and/or structural validity of quality of life instruments in DMD, and/or instrument development. Evidence was evaluated against the Consensus-based Standards for the selection of health Measurement INstruments (COSMIN) criteria. Fifty five articles featured a questionnaire assessing quality of life in DMD. Forty instruments were extracted and 26 underwent assessment. Forty-one articles contained evidence on content or structural validity (including 37 development papers). Most instruments demonstrated low quality evidence and unsatisfactory or inconsistent validity in DMD, with the majority not featuring direct validation studies in this population. Only KIDSCREEN received an adequate rating for instrument design and a satisfactory result for content validity based on its development, yet, like the majority of PROMs, the measure has not been directly validated for use in DMD. Further research is needed on the validity of quality of life instruments in DMD, including content and structural validity studies in this population.

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EuroQol: the current state of play.

R. Brooks (1996)

The EuroQol Group first met in 1987 to test the feasibility of jointly developing a standardised non-disease-specific instrument for describing and valuing health-related quality of life. From the outset the Group has been multi-country, multi-centre, and multi-disciplinary. The EuroQol instrument is intended to complement other forms of quality of life measures, and it has been purposefully developed to generate a cardinal index of health, thus giving it considerable potential for use in economic evaluation. Considerable effort has been invested by the Group in the development and valuation aspects of health status measurement. Earlier work was reported upon in 1990; this paper is a second 'corporate' effort detailing subsequent developments. The concepts underlying the EuroQol framework are explored with particular reference to the generic nature of the instrument. The valuation task is reviewed and some evidence on the methodological requirements for measurement is presented. A number of special issues of considerable interest and concern to the Group are discussed: the modelling of data, the duration of health states and the problems surrounding the state 'dead'. An outline of some of the applications of the EuroQol instrument is presented and a brief commentary on the Group's ongoing programme of work concludes the paper.

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How to select outcome measurement instruments for outcomes included in a “Core Outcome Set” – a practical guideline

Cecilia Prinsen, Sunita Vohra, Michael Rose … (2016)

Background In cooperation with the Core Outcome Measures in Effectiveness Trials (COMET) initiative, the COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) initiative aimed to develop a guideline on how to select outcome measurement instruments for outcomes (i.e., constructs or domains) included in a “Core Outcome Set” (COS). A COS is an agreed minimum set of outcomes that should be measured and reported in all clinical trials of a specific disease or trial population. Methods Informed by a literature review to identify potentially relevant tasks on outcome measurement instrument selection, a Delphi study was performed among a panel of international experts, representing diverse stakeholders. In three consecutive rounds, panelists were asked to rate the importance of different tasks in the selection of outcome measurement instruments, to justify their choices, and to add other relevant tasks. Consensus was defined as being achieved when 70 % or more of the panelists agreed and when fewer than 15 % of the panelists disagreed. Results Of the 481 invited experts, 120 agreed to participate of whom 95 (79 %) completed the first Delphi questionnaire. We reached consensus on four main steps in the selection of outcome measurement instruments for COS: Step 1, conceptual considerations; Step 2, finding existing outcome measurement instruments, by means of a systematic review and/or a literature search; Step 3, quality assessment of outcome measurement instruments, by means of the evaluation of the measurement properties and feasibility aspects of outcome measurement instruments; and Step 4, generic recommendations on the selection of outcome measurement instruments for outcomes included in a COS (consensus ranged from 70 to 99 %). Conclusions This study resulted in a consensus-based guideline on the methods for selecting outcome measurement instruments for outcomes included in a COS. This guideline can be used by COS developers in defining how to measure core outcomes. Electronic supplementary material The online version of this article (doi:10.1186/s13063-016-1555-2) contains supplementary material, which is available to authorized users.

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Evidence-based path to newborn screening for Duchenne muscular dystrophy.

Jerry R Mendell, Chris Shilling, Nancy D Leslie … (2012)

Creatine kinase (CK) levels are increased on dried blood spots in newborns related to the birthing process. As a marker for newborn screening, CK in Duchenne muscular dystrophy (DMD) results in false-positive testing. In this report, we introduce a 2-tier system using the dried blood spot to first assess CK with follow-up DMD gene testing. A fluorometric assay based upon the enzymatic transphosphorylation of adenosine diphosphate to adenosine triphosphate was used to measure CK activity. Preliminary studies established a population-based range of CK in newborns using 30,547 deidentified anonymous dried blood spot samples. Mutation analysis used genomic DNA extracted from the dried blood spot followed by whole genome amplification with assessment of single-/multiexon deletions/duplications in the DMD gene using multiplex ligation-dependent probe amplification. DMD gene mutations (all exonic deletions) were found in 6 of 37,649 newborn male subjects, all of whom had CK levels>2,000U/l. In 3 newborns with CK>2,000U/l in whom DMD gene abnormalities were not found, we identified limb-girdle muscular dystrophy gene mutations affecting DYSF, SGCB, and FKRP. A 2-tier system of analysis for newborn screening for DMD has been established. This path for newborn screening fits our health care system, minimizes false-positive testing, and uses predetermined levels of CK on dried blood spots to predict DMD gene mutations. Copyright © 2012 American Neurological Association.

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Author and article information

Contributors

Philip A. Powell:

ORCID: http://orcid.org/0000-0003-1169-3431

p.a.powell@sheffield.ac.uk

Journal

Journal ID (nlm-ta): Health Qual Life Outcomes

Journal ID (iso-abbrev): Health Qual Life Outcomes

Title: Health and Quality of Life Outcomes

Publisher: BioMed Central (London )

ISSN (Electronic): 1477-7525

Publication date (Electronic): 3 August 2020

Publication date PMC-release: 3 August 2020

Publication date Collection: 2020

Volume: 18

Electronic Location Identifier: 263

Affiliations

[1 ]GRID grid.11835.3e, ISNI 0000 0004 1936 9262, School of Health and Related Research, University of Sheffield, ; Regent Court, 30 Regent Street, Sheffield, S1 4DA UK

[2 ]GRID grid.11835.3e, ISNI 0000 0004 1936 9262, Department of Economics, , University of Sheffield, ; 9 Mappin Street, Sheffield, S1 4DT UK

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Philip A. Powell http://orcid.org/0000-0003-1169-3431

Article

Publisher ID: 1511

DOI: 10.1186/s12955-020-01511-z

PMC ID: 7397669

PubMed ID: 32746836

SO-VID: 42cac02f-b9c4-4216-93d7-24ed3a835ed6

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Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

History

Date received : 10 July 2019

Date accepted : 24 July 2020

Funding

Funded by: Duchenne UK

Award ID: project HERCULES

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ScienceOpen disciplines: Health & Social care

Keywords: content validity,duchenne muscular dystrophy,patient reported outcome measures,quality of life,structural validity

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ScienceOpen disciplines: Health & Social care

Keywords: content validity, duchenne muscular dystrophy, patient reported outcome measures, quality of life, structural validity

Measuring quality of life in Duchenne muscular dystrophy: a systematic review of the content and structural validity of commonly used instruments

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Asian Journal of Quality of Life (AjQoL)

Most cited references 79

EuroQol: the current state of play.

How to select outcome measurement instruments for outcomes included in a “Core Outcome Set” – a practical guideline

Evidence-based path to newborn screening for Duchenne muscular dystrophy.

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