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Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review.

ABSTRACT: BACKGROUND:Health-related Quality of Life (HrQoL) is a multidimensional measure, which has gained clinical and social relevance. Implementation of a patient-centred approach to both clinical research and care settings, has increased the recognition of patient and/or observer reported outcome measures (PROMs or ObsROMs) as informative and reliable tools for HrQoL assessment. Inherited Metabolic Diseases (IMDs) are a group of heterogeneous conditions with phenotypes ranging from mild to severe and mostly lacking effective therapies. Consequently, HrQoL evaluation is particularly relevant. OBJECTIVES:We aimed to: (1) identify patient and/or caregiver-reported HrQoL instruments used among IMDs; (2) identify the main results of the application of each HrQoL tool and (3) evaluate the main limitations of HrQoL instruments and study design/methodology in IMDs. METHODS:A scoping review was conducted using methods outlined by Arksey and O'Malley. Additionally, we critically analysed each article to identify the HrQoL study drawbacks. RESULTS:Of the 1954 studies identified, 131 addressed HrQoL of IMDs patients using PROMs and/or ObsROMs, both in observational or interventional studies. In total, we identified 32 HrQoL instruments destined to self- or proxy-completion; only 2% were disease-specific. Multiple tools (both generic and disease-specific) proved to be responsive to changes in HrQoL; the SF-36 and PedsQL questionnaires were the most frequently used in the adult and pediatric populations, respectively. Furthermore, proxy data often demonstrated to be a reliable approach complementing self-reported HrQoL scores. Nevertheless, numerous limitations were identified especially due to the rarity of these conditions. CONCLUSIONS:HrQoL is still not frequently assessed in IMDs. However, our results show successful examples of the use of patient-reported HrQoL instruments in this field. The importance of HrQoL measurement for clinical research and therapy development, incites to further research in HrQoL PROMs' and ObsROMs' creation and validation in IMDs.

SUBMITTER: Pascoal C

PROVIDER: S-EPMC6263554 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature

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Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review.

Pascoal Carlota C Brasil Sandra S Francisco Rita R Marques-da-Silva Dorinda D Rafalko Agnes A Jaeken Jaak J Videira Paula A PA Barros Luísa L Dos Reis Ferreira Vanessa V

Orphanet journal of rare diseases 20181128 1

<h4>Background</h4>Health-related Quality of Life (HrQoL) is a multidimensional measure, which has gained clinical and social relevance. Implementation of a patient-centred approach to both clinical research and care settings, has increased the recognition of patient and/or observer reported outcome measures (PROMs or ObsROMs) as informative and reliable tools for HrQoL assessment. Inherited Metabolic Diseases (IMDs) are a group of heterogeneous conditions with phenotypes ranging from mild to se ...[more]

PMID: 30486833

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Project description:BACKGROUND:Retinoblastoma is a childhood retinal cancer with lifelong consequences such as vision loss and increased risk of second cancer. Patient-reported outcome measures (PROMs) are instruments that measure outcomes related to health directly reported by patients. The purpose of this study was to determine the scope, characteristics and quality of PROMs used in retinoblastoma and related fields of pediatric ophthalmology and pediatric oncology. METHODS:Databases MEDLINE and Embase were searched for studies in the English language that reported on PROMs used in retinoblastoma, pediatric oncology, or pediatric ophthalmology; grey literature and studies reporting on developmental PROM phases were excluded. PROMs were grouped by the construct measured and domains assessed, and classified as condition-specific or generic. A subsequent search was then conducted in MEDLINE and Embase for studies assessing measurement properties of the identified PROMs. PROMs with associated studies were assessed for their methodologic quality using the COnsensus-based standard for the Selection of health Measurement INstruments (COSMIN) strategy. RESULTS:Among 110 eligible studies uncovered by the database searches, 143 PROMs were identified: one retinoblastoma-specific, 56 ophthalmology- and 86 oncology-related. The most common construct measured was 'health-related quality of life' and the most common domain assessed was emotional well-being. Of the 143 PROMs, 100 had associated validation studies; the one retinoblastoma-specific PROM was not validated. Quality assessment revealed 34/100 PROMs received a score of sufficient quality in both subcategories of 'overall content validity'; 3/100 received a score of sufficient quality in both subcategories of 'internal structure'; 0/100 received a score of sufficient quality in all three subcategories of 'remaining measurement properties'. The Patient-Reported Outcome Measure Information System (PROMIS) Pediatric Profile-25 was the highest-scoring PROM identified, meeting COSMIN standards for 2/3 measurement property categories (and 5/7 subcategories). Eleven additional PROMs were identified which had sufficient scores in 1/3 measurement property categories (and 5/7 subcategories). CONCLUSION:The study identified several PROMs from the pediatric ophthalmology and pediatric oncology literature that could be relevant to the retinoblastoma population, but many have limits to their validation. Future development of a retinoblastoma-specific PROM, performed in partnership with retinoblastoma patients to support optimal content validity, could first focus on the selection and definition of the optimal construct to measure, followed potentially by adaptation and further validation of the relevant PROMs with strong methodologic quality identified in this study.

Project description:ObjectiveThis scoping review aims to characterize the current literature on electronic patient-reported outcome measures (ePROMs) in rheumatology and assess the feasibility and utility of ePROMs and mobile health technology in the management of rheumatic disease.IntroductionPatient-reported outcome measures (PROMs) are commonly used in rheumatology as they are important markers of disease activity and overall function, encourage shared decision-making, and are associated with high rates of patient satisfaction. With the widespread use of mobile devices, there is increasing interest in the use of mobile health technology to collect electronic PROMs (ePROM).Inclusion criteriaAll primary studies that involve the collection of ePROMs using mobile devices by individuals with a rheumatic disease were included. Articles were excluded if ePROMs were measured during clinic appointments.MethodsA scoping review was performed using Medline, Embase, PsycINFO, and CINAHL with index terms and key words related to "patient-reported outcome measures", "rheumatic diseases", and "mobile health technology".ResultsA total of 462 records were identified after duplicates were removed. Of the 70 studies selected for review, 43% were conference proceedings and 57% were journal articles, with the majority published in 2016 or later. Inflammatory arthritis was the most common rheumatic disease studied. Generic ePROMs were used over three times more often than disease-specific ePROMs. A total of 39 (56%) studies directly evaluated the feasibility of ePROMs in clinical practice, 19 (27%) were clinical trials that used ePROMs as study endpoints, 9 (13%) were focus groups or surveys on smartphone application development, and 3 (4%) did not fit into one defined category.ConclusionThe use of ePROMs in rheumatology is a growing area of research and shows significant utility in clinical practice, particularly in inflammatory arthritis. Further research is needed to better characterize the feasibility of ePROMs in rheumatology and their impact on patient outcomes.

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Dataset Information

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review.

Publications

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review.

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