ArticleOrphanet journal of rare diseases2018
Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review.
Article in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Health-related quality of life scores of typically developing children and adolescents around the world: a meta-analysis with meta-regression.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2020Pooled it
- The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study.Orphanet journal of rare diseases · 2026Article
- Self-Reported Health-Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders.Journal of inherited metabolic disease · 2026Observational
- Health-related quality of life and tobacco and alcohol consumption in Leber hereditary optic neuropathy in Sweden.Frontiers in ophthalmology · 2026Article
- Metabolic syndrome and health-related quality of life: unraveling the role of gender (A SUMS employees cohort-based study).BMC research notes · 2025Article
- Exploring Partners, Parenting and Pregnancy Thinking in Late Adolescents and Young Adults with Inherited Metabolic Disorders.Pediatric reports · 2025Article
- The Uneven Effect of Rare Diseases on Functional Status and Work Capacity.Healthcare (Basel, Switzerland) · 2025Article
- The impact of a child's inborn error of metabolism: the parents' perspectives on restrictions, discrimination, family planning, and emergency management.Orphanet journal of rare diseases · 2024Article
- Parents' Perceptions Regarding Their Children's Medications and Expert-Assessed Drug-Related Problems in Pediatric Patients with Inborn Errors of Metabolism.Children (Basel, Switzerland) · 2023Article
- Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study.Molecular genetics and metabolism reports · 2023Article
- Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals.Orphanet journal of rare diseases · 2022Article
- A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation.International journal of environmental research and public health · 2022Article
- Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus.Orphanet journal of rare diseases · 2022Article
- The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease.Orphanet journal of rare diseases · 2021Article
- Qualitative interviews to improve patient-reported outcome measures in late-onset Pompe disease: the patient perspective.Orphanet journal of rare diseases · 2021Article
- The Use of Patient-Reported Outcome Measures in Rare Diseases and Implications for Health Technology Assessment.The patient · 2021Review
- Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).Cerebellum (London, England) · 2021Article
- Measuring health-related quality of life in chronic otitis media in a Chinese population: cultural adaption and validation of the Zurich Chronic Middle Ear Inventory (ZCMEI-21-Chn).Health and quality of life outcomes · 2020Article
- New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach.Journal of clinical medicine · 2020Article
- Experiences of patients with Poland syndrome of diagnosis and care in Italy: a pilot survey.Orphanet journal of rare diseases · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundHealth-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.
objectivesWe 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.
methodsA scoping review was conducted using methods outlined by Arksey and O'Malley. Additionally, we critically analysed each article to identify the HrQoL study drawbacks.
resultsOf 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.
conclusionsHrQoL 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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.