Topic 1.6. Overview of quality of life in Friedreich ataxia
This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.
Topic Contents
1.6 Overview of quality of life in Friedreich ataxia
1.6.1 Background
1.6.2 Literature review
Disclaimer / Intended Use / Funding
Disclaimer
The Clinical Management Guidelines for Friedreich ataxia (‘Guidelines’) are protected by copyright owned by the authors who contributed to their development or said authors’ assignees.
These Guidelines are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group.
Guidelines users must seek out the most recent information that might supersede the diagnostic and treatment recommendations contained within these Guidelines and consider local variations in clinical settings, funding and resources that may impact on the implementation of the recommendations set out in these Guidelines.
The authors of these Guidelines disclaim all liability for the accuracy or completeness of the Guidelines, and disclaim all warranties, express or implied to their incorrect use.
Intended Use
These Guidelines are made available as general information only and do not constitute medical advice. These Guidelines are intended to assist qualified healthcare professionals make informed treatment decisions about the care of individuals with Friedreich ataxia. They are not intended as a sole source of guidance in managing issues related to Friedreich ataxia. Rather, they are designed to assist clinicians by providing an evidence-based framework for decision-making.
These Guidelines are not intended to replace clinical judgment and other approaches to diagnosing and managing problems associated with Friedreich ataxia which may be appropriate in specific circumstances. Ultimately, healthcare professionals must make their own treatment decisions on a case-by-case basis, after consultation with their patients, using their clinical judgment, knowledge and expertise.
Guidelines users must not edit or modify the Guidelines in any way – including removing any branding, acknowledgement, authorship or copyright notice.
Funding
The authors of this document gratefully acknowledge the support of the Friedreich Ataxia Research Alliance (FARA). The views and opinions expressed in the Guidelines are solely those of the authors and do not necessarily reflect the official policy or position of FARA.
1.6 Overview of quality of life in Friedreich ataxia
Jennifer Farmer, Elisabetta Soragni and Myriam Rai
1.6.1 Background
Quality of life (QOL) in FRDA is influenced by many different factors, not the least of which is living with a chronic, progressive disease. Being able to quantify health-related QOL issues is essential to clinical research and long-term evaluation of the impact of new treatments and guideline recommendations. This section covers specific issues related to QOL in individuals with FRDA; in particular, techniques and equipment that promote health and independence in a person with FRDA, and the presence and management of mental health and psychological symptoms related to FRDA. Specific attention is given to medical management in the later stages of the disease process when QOL is the driving focus of medical decision making.
1.6.2 Literature review
There are only a handful of studies specifically evaluating QOL in individuals with FRDA. Findings from these studies are summarized in Table 1.4.
There is no doubt that FRDA is associated with decreased QOL. The Australian and US studies have very similar findings, utilizing the SF-36 to quantify QOL in diverse cross-sectional cohorts of adults with FRDA (89, 90). The SF-36, while not specific to FRDA, is able to capture QOL at various stages of disease (89, 90). While physical components have worse scores, both physical and mental components of health-related QOL are decreased in individuals with FRDA in various stages of disease (89, 90). Even those with milder stage and/or late onset FRDA reported decreased QOL (90). A more recent large study in a heterogeneous cohort confirmed these observations and showed a correlation between physical scales and some disease features and their decline over time (91). When depression symptoms are analyzed, these scores are predictive of QOL (92). A study analyzing the association between mobility device use in children with FRDA and their health-related QOL shows that mobility device use is associated with worse QOL outcomes, with the effect being greatest for physical functioning (93). Worsening of academic, social, and emotional functioning also suggests that use of mobility devices has important psychosocial implications for children with FRDA. A more recent study (94) has determined an association of patient-reported vision-specific QOL with visual function and disease status in FRDA. The 25-Item National Eye Institute Visual Functioning Questionnaire (NEI-VFQ-25) was significantly lower (indicating worse QOL) in FRDA compared to other controls groups. Rank correlations revealed lower NEI-VFQ-25 scores among patients with greater disease severity (94).
The results from these studies should signal to a clinician that from the point of diagnosis onward individuals with FRDA may have decreased QOL, which may impact on other aspects of life including psychological function. Any adjunctive support that can improve an individual’s symptoms, especially physical symptoms such as reduced ambulation, fatigue or pain, could improve QOL.
For more information, see Chapter 16: Digital and assistive technologies in Friedreich ataxia.
In reviewing QOL studies, it is important to note the range of instruments used to measure QOL in FRDA. The SF-36 (in various versions) has been used most often for adult participants (89, 90, 95). In pediatric cohorts, the PedsQL has been used to assess QOL (96, 97). This instrument offers both child report questionnaires based on age and parental report questionnaire. In addition, there has been research to develop a disease-specific instrument, the Friedreich’s Ataxia Impact Scale or FAIS (98), but it has not yet been used widely.
Table 1.4 Literature review of general quality of life in Friedreich ataxia
Jennifer Farmer, MS
Chief Executive Officer, Friedreich’s Ataxia Research Alliance (FARA), Downingtown, Pennsylvania, USA
Email: info@curefa.org
Myriam Rai, PhD
Director of Global Relations & Initiatives, Friedreich’s Ataxia Research Alliance (FARA), Brussels, Belgium
Email: myriam.rai@curefa.org
Elisabetta Soragni
Director of Research, The Friedreich’s Ataxia Research Alliance, Downingtown, Pennsylvania, USA
Email: liz.soragni@curefa.org
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These Guidelines are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group.
This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.
It is our expectation that going forward individual topics can be updated in real-time in response to new evidence versus a re-evaluation and update of all topics simultaneously.