When dealing with chronic illnesses, especially rare ones, it is important as healthcare providers to be aware of the mental and emotional toll they can have on the patient. As clinicians, we need to avoid the trap of becoming so focused on improving objective values that we neglect subjective ones.

The World Health Organization (WHO) defines Quality of Life (QoL) as “individuals’ perceptions of their position in life in the context of the culture and value systems in which they live and in relation to their goals, expectations, standards and concerns.” To be better healthcare providers, we need to view rare chronic diseases as a marathon, not a sprint, and pay special attention to the ability of our patients to persevere through treatment. 

QoL questionnaires are an innovative approach toward quantifying what is a very subjective matter, ie, the quality of life of a patient suffering from a chronic illness. They are especially useful in diseases in which patients suffer progressive loss of function, such as Duchenne muscular dystrophy (DMD).

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A group of researchers proposed the development of a new QoL measure for DMD patients (boys and men) in an article published in Neurology. The reason for such a new proposal? Well, the existing QoL measure for DMD patients has been questioned for its adequacy in truly capturing the QoL of DMD patients, and “a recent systematic review of the content and structural validity of QoL instruments used in DMD highlighted that no measure had high-quality evidence to support its use.”

The authors continued: “Given the problems with existing measures, there is clear

justification for a new QoL patient-reported outcome measure (PROM) for use in people with DMD, developed with demonstrable content validity.” The main objective of developing a new QoL for DMD patients (boys and men above the ages of 7) is to “assess its preliminary psychometric properties.”

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Methodology of the Study 

The authors of the study developed the new QoL according to 3 main steps:  

Step 1: Item Generation 

To develop any questionnaire, several key items need to be prioritized so that the questionnaire is concise and reflective of the situation it is intending to capture. To achieve this, a chartered psychologist conducted semi-formal interviews with 18 boys and men with DMD in the UK. 

They continued to do so until data saturation was reached, which is the point in which no new themes arise in the interviews. The interviews were then analyzed with a “moderative, iterative framework analysis to generate themes.” 

Stage 2: Initial Item Selection 

To ensure that the contents of the new proposed QoL were valid and to eliminate redundant items, the draft items were shared with the patients interviewed and their parents, as well as clinicians, for feedback. Eligible parents and clinicians were sampled from Duchenne UK. 

In this stage of the interview, participants were encouraged to provide feedback on the draft items (43 in total), which were grouped according to theorized qualitative themes. The goal of this exercise was to assess 3 key areas: relevance, comprehensiveness, and comprehensibility.

Stage 3: Final Item Selection and Psychometric Survey 

Once feedback has been received, the item selection was finalized with a series of steps: 

  • Various stakeholders sorted the items into 1 of 3 outcomes: should not be in the final measure / undecided / should be in the final measure. 
  • A team from Oxford University Innovation Clinical Outcomes assessed the pretranslatability of the items to highlight any concerns about translations into other languages.
  • A psychometric survey was conducted with more than 100 UK DMD patients and caregivers.

Study Findings

The themes of the new QoL were:

  • Physical aspects (ie, muscle weakness)
  • Social relationships
  • Autonomy and independence 
  • Identity 
  • Feelings and emotions 
  • Daily activities 

The new QoL was judged to be a success on a number of key parameters: First, “it included the realization of a rigorous PROM development in a rare condition” — a no small achievement. Second, it had a high degree of patient and public involvement and engagement and clinician input. Third, the new QoL was designed for use throughout life, meaning it can be used to compare differences in QoL across DMD progression on a common scale. Fourth, it is concise enough (only 14 items made the final cut) that it can be easily completed by DMD patients. Fifth, it can be used as a tool to facilitate important conversations around QoL and inform better care for DMD patients. 

Like all questionnaires, this newly developed DMD QoL one does have its limitations. First, its intentionally concise design means it isn’t as comprehensive as some clinicians would like it to be. For example, because this questionnaire was meant to be used by boys (aged 7 years and older) as well as men, questions on sexual relationships and end-of-life issues were excluded.

Second, the authors recognize that “further work is required to assess the PROM for its psychometric performance in an independent sample.” Third, the scope of this study was limited to the United Kingdom alone. 

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QoL Questionnaires: An Opportunity to Rethink Chronic Illness

Although QoL questionnaires are available for many chronic illnesses, such as cancer, heart disease and stroke, and transplant recipients,  they are sometimes neglected by physicians altogether. Although we may ask questions relating to QoL issues when assessing patient progress, they are rarely as comprehensive as the QoL questionnaires specific to certain illnesses that have been developed with expert input. 

The benefit of a well-written QoL questionnaire is that it allows physicians to chart the progress of a patient’s perception of their QoL over time. This allows for timely intervention to be introduced should the QoL score drop suddenly from one questionnaire to the next. 

In dealing with rare chronic illnesses, uncertainty is often a burden to both the clinician and the patient. By choosing to utilize QoL questionnaires more regularly in clinical practice, we can more easily capture insights into how this burden is affecting our patients in real-time. That would allow us to develop a greater culture of empathy around our patients and support them in a more targeted way. 


WHOQOL: measuring quality of life. World Health Organization. March 1, 2012. Accessed July 12, 2021. 

Powell PA, Carlton J, Rowen D, Chandler F, Guglieri M, Brazier JE. Development of a new quality of life measure for Duchenne muscular dystrophy using mixed methods. Neurology. 2021;96(19):e2438-e2450. doi:10.1212/WNL.0000000000011896

Megari K. Quality of life in chronic disease patients. Health Psychol Res. 2013;1(3):e27. doi:10.4081/hpr.2013.e27