Disease-specific health related quality of life patient reported outcome measures in Genodermatoses: a systematic review and critical evaluation

Frew, John W.; Davidson, Martin N.; Murrell, Dédée F.

doi:10.1186/s13023-017-0739-5

Cited by 8 publications

(4 citation statements)

References 44 publications

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“…To get a better understanding of functioning and what is relevant to individuals, a patient-reported outcome measure (PROM) would allow an insight into perceived severity and impact. PROMs are questionnaires that measure how an individual experiences his or her own health [ 18 – 20 ]. They have become important for value-based healthcare and shared-decision making [ 21 ] and are increasingly used in practice and scientific research to quantify the severity and impact of the diseases on daily functioning from the perspective of the individual.…”

Section: Introductionmentioning

confidence: 99%

Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM

Müller

Luijten

Haverman

et al. 2023

BMC Med

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Background Tuberous sclerosis complex (TSC) is a rare and complex genetic disorder, associated with tumor growth in various organ systems, epilepsy, and a range of neuropsychiatric manifestations including intellectual disability. With improving patient-centered care and targeted therapies, patient-reported outcome measures (PROMs) are needed to measure the impact of TSC manifestations on daily functioning. The aim of this study was to develop a TSC-specific PROM for adults that captures the impact of TSC on physical functions, mental functions, activity and participation, and the social support individuals with TSC receive, called the TSC-PROM. Methods COSMIN methodology was used to develop a self-reported and proxy-reported version. Development and validation consisted of the following studies: PROM development, content validity, structural validity, internal consistency, and construct validity. The International Classification of Functioning and Disability was used as a framework. Content validity was examined by a multidisciplinary expert group and cognitive interview study. Structural and construct validity, and internal consistency were examined in a large cohort, using confirmatory factor analysis, hypotheses testing, and Cronbach’s alpha. Results The study resulted in an 82-item self version and 75-item proxy version of the TSC-PROM with four subscales (physical functions 18 and 19 items, mental functions 37 and 28 items, activities and participation 13 and 14 items, social support 13 items, for self version and proxy version respectively). Sufficient results were found for structural validity with sufficient unidimensionality for each subscale. With regard to construct validity, 82% of the hypotheses were met for the self version and 59% for the proxy version. The PROM showed good internal consistency (Cronbach’s alpha 0.78–0.97). Conclusions We developed a PROM for adults with TSC, named TSC-PROM, showing sufficient evidence for reliability and validity that can be used in clinical and research settings to systematically gain insight into their experiences. It is the first PROM in TSC that addresses the impact of specific TSC manifestations on functioning, providing a valuable, patient-centered addition to the current clinical outcomes.

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Section: Introductionmentioning

confidence: 99%

Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM

Müller

Luijten

Haverman

et al. 2023

BMC Med

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“…Having established that the most important requirements of PROMs are a true construct theory and fit to RMT, it is enlightening to look at the criteria reviewers use to judge the quality of available PROMs. A review of PubMed identified 13 articles reviewing PROMs available for specific diseases 5,[28][29][30][31][32][33][34][35][36][37][38][39] .…”

Section: Published Reviews Of Disease-specific Promsmentioning

confidence: 99%

“…Two reviews mentioned that the application of RMT would have produced higher quality PROMs 28,31 , but none of the measures they reviewed had done so. A third review 38 identified one PROM that had applied RMT in its development, but this article only became available after the review was completed. Consequently, neither the instrument's development nor its performance were reported.…”

Section: Published Reviews Of Disease-specific Promsmentioning

confidence: 99%

Measurement of patient-reported outcomes. 2: Are current measures failing us?

McKenna

Heaney

Wilburn

2019

Journal of Medical Economics

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All instruments designed to measure latent (unobservable) variables, such as patient-reported outcomes (PROs), have three major requirements; a coherent construct theory, a specification equation, and the application of an appropriate response model. The theory guides the selection of content for the questionnaire and the specification equation links the construct theory to scores produced with the instrument. For the specification equation to perform this role, the patient-reported outcome measure (PROM) must employ a response model that generates values for its individual items. The most commonly applied response model in PROM development is the Rasch model. To date this level of measurement sophistication has not been achieved in PRO measurement. Consequently, it is not possible to establish a PROM's true construct validity. However, the development of the Lexile Framework for Reading has demonstrated that such objective measurement is possible for latent variables. This article argues that higher quality PROM development is needed if meaningful and valid PRO measurement is to be achieved. It describes the current state of PROM development, shows that published reviews of PROMs adopt inappropriate criteria for judging their quality, and illustrates how the use of traditional PROMs can lead to incorrect (and possibly dangerous) conclusions being drawn about the efficacy of interventions.

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“…The attention to the patient experience of health-related quality of life (HRQoL) as a factor influencing the individual’s well-being and treatment choices are increasingly explored by clinicians and researchers [8–11]. HRQoL is a concept that encompasses physical, psychological and social aspects of well-being, and may be assessed through patient reported outcome measures (PROMs) [12]. Systematic QoL assessments have become important guides to improved targeted clinical care and patient outcomes.…”

Section: Introductionmentioning

confidence: 99%

Measuring quality of life of primary antibody deficiency patients using a disease-specific health-related quality of life questionnaire for common variable immunodeficiency (CVID_QoL)

Andersen¹,

Midttun²,

Feragen³

2019

J Patient Rep Outcomes

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Background Common variable immunodeficiency (CVID) and other primary antibody deficiencies (PAD) are a heterogeneous group of > 300 congenital disorders affecting the immune system. Until recently, efforts to measure health-related quality of life (QoL) in PAD patients have utilised generic QoL tools and disease-specific tools for other conditions. Still, the full impact of the disease is probably not understood. We evaluated the performance of the CVID_QoL, a novel disease-specific QoL instrument for adults with CVID, on Norwegian PAD patients and compared the results to those of the generic WHOQOL-BREF. Methods Respondents were recruited through the Norwegian Centre for Rare Disorders’ patient database. Included patients fulfilled the following criteria (all three): 1.) Age ≥18 years, 2.) a PAD diagnosis, 3.) currently on immunoglobulin therapy. The CVID_QoL is a 32-item questionnaire. Global CVID_QoL scores were compared between Norwegian PAD patients and Italian CVID patients. Results In total, 83 PAD patients filled out the CVID_QoL, 63% had CVID, 76% were females. 32 patients filled out the WHOQOL-BREF. Feasibility was high (<1% missing). Internal consistency for the emotional- (Cronbach’s α-value = 0.91) and relational functioning (α = 0.77) subscales was high, but questionable for the gastrointestinal and skin symptoms subscale (α = 0.66). Convergent validity varied from weak to strong (range 0.3–0.8). Floor and ceiling effects were present. Conclusions Although many disease-specific characteristics are probably shared with CVID and other PAD, the CVID_QoL captures some, but not all, dimensions of PAD patients’ QoL. More evaluations of the CVID_QoL’s performance in different contexts are needed. Electronic supplementary material The online version of this article (10.1186/s41687-019-0101-x) contains supplementary material, which is available to authorized users.

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Disease-specific health related quality of life patient reported outcome measures in Genodermatoses: a systematic review and critical evaluation

Cited by 8 publications

References 44 publications

Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM

Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM

Measurement of patient-reported outcomes. 2: Are current measures failing us?

Measuring quality of life of primary antibody deficiency patients using a disease-specific health-related quality of life questionnaire for common variable immunodeficiency (CVID_QoL)

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