A scoping review of health literacy in rare disorders: key issues and research directions

Una Stenberg^{1

2}, Lydia Westfal³, Andreas Dybesland Rosenberger⁴, Kristin Ørstavik⁵, Maria Flink⁶, Heidi Holmen⁷, Silje Systad⁸, Karl Fredrik Westermann⁹, Gry Velvin¹⁰

Affiliations

¹ Frambu Resource Center for Rare Disorders, Sandbakkveien 18, Siggerud, 1404, Norway. ust@frambu.no.
² Norwegian National Advisory Unit on Learning and Mastery in Health, Oslo University Hospital, Postboks 4959 Nydalen, Oslo, 0424, Norway. ust@frambu.no.
³ Frambu Resource Center for Rare Disorders, Sandbakkveien 18, Siggerud, 1404, Norway.
⁴ National Neuromuscular Centre Norway, University Hospital of North-Norway, Hansine Hansens vei 37, Tromsø, 9019, Norway.
⁵ Section for Rare Neuromuscular Disorders and Unit for Congenital and Hereditary Neuromuscular Disorders (EMAN), Department of Neurology, Oslo University Hospital, Postboks 4950 Nydalen, Oslo, 0424, Norway.
⁶ Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Solnavägen 1, Solna, 171 77, Sweden.
⁷ Oslo Metropolitan University, Postbox 4, St. Olavs place, Oslo, N-0130, Norway.
⁸ National Centre for Rare Epilepsy-Related Disorders, Department of Rare Disorders, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Postboks, 4950 Nydalen, 0424, Oslo, Norway.
⁹ Norwegian National Advisory Unit on Learning and Mastery in Health, Oslo University Hospital, Postboks 4959 Nydalen, Oslo, 0424, Norway.
¹⁰ TRS Resource Centre for Rare Diseases, Sunnaas Rehabilitation Hospital, Bjørnemyrveien 11, 1453, Bjørnemyr, Norway.

PMID: 39243094
PMCID: PMC11380335
DOI: 10.1186/s13023-024-03332-5

A scoping review of health literacy in rare disorders: key issues and research directions

Una Stenberg et al. Orphanet J Rare Dis. 2024.

. 2024 Sep 6;19(1):328.

doi: 10.1186/s13023-024-03332-5.

Authors

Una Stenberg^{1

2}, Lydia Westfal³, Andreas Dybesland Rosenberger⁴, Kristin Ørstavik⁵, Maria Flink⁶, Heidi Holmen⁷, Silje Systad⁸, Karl Fredrik Westermann⁹, Gry Velvin¹⁰

Affiliations

¹ Frambu Resource Center for Rare Disorders, Sandbakkveien 18, Siggerud, 1404, Norway. ust@frambu.no.
² Norwegian National Advisory Unit on Learning and Mastery in Health, Oslo University Hospital, Postboks 4959 Nydalen, Oslo, 0424, Norway. ust@frambu.no.
³ Frambu Resource Center for Rare Disorders, Sandbakkveien 18, Siggerud, 1404, Norway.
⁴ National Neuromuscular Centre Norway, University Hospital of North-Norway, Hansine Hansens vei 37, Tromsø, 9019, Norway.
⁵ Section for Rare Neuromuscular Disorders and Unit for Congenital and Hereditary Neuromuscular Disorders (EMAN), Department of Neurology, Oslo University Hospital, Postboks 4950 Nydalen, Oslo, 0424, Norway.
⁶ Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Solnavägen 1, Solna, 171 77, Sweden.
⁷ Oslo Metropolitan University, Postbox 4, St. Olavs place, Oslo, N-0130, Norway.
⁸ National Centre for Rare Epilepsy-Related Disorders, Department of Rare Disorders, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Postboks, 4950 Nydalen, 0424, Oslo, Norway.
⁹ Norwegian National Advisory Unit on Learning and Mastery in Health, Oslo University Hospital, Postboks 4959 Nydalen, Oslo, 0424, Norway.
¹⁰ TRS Resource Centre for Rare Diseases, Sunnaas Rehabilitation Hospital, Bjørnemyrveien 11, 1453, Bjørnemyr, Norway.

PMID: 39243094
PMCID: PMC11380335
DOI: 10.1186/s13023-024-03332-5

Abstract

Background: The ability to find, understand, appraise and utilise health information is crucial among individuals living with rare disorders. The aim of this study was to give a comprehensive overview of the literature on health literacy in adult persons with rare disorders.

Methods: We applied a scoping review methodology and performed a systematic search in 2021 in bibliographic databases. Searches were conducted in Medline (Ovid), Embase (Ovid), PsycInfo (Ovid), CINAHL (ebsco), and ERIC (Ovid). References were sorted and evaluated for inclusion using EndNote and Covidence. This review was guided by the question "What are the characteristics of research on health literacy in rare disorders?"

Results: The database searches yielded 75 eligible reports. A total of 6223 individuals with rare disorders were represented alongside 1707 caregivers. The reports in this review have included study participants representing a total of 80 different rare disorders with unique ORPHA and ICD-10 codes. The results revealed that persons with rare disorders often exhibit gaps in health literacy through a lack of knowledge and access to information related to self-management, their own diagnosis and health, as well as daily coping and social rights. In addition, the importance of aid and information from healthcare personnel and the significance of getting social support from others in the same situation were accentuated.

Conclusion: This review emphasizes the importance of reinforcing health literacy among persons with rare disorders through peer support and education. This is the first review to give a comprehensive and state-of-the-art overview of literature investigating health literacy among persons with rare disorders and offers a basis for further research.

Keywords: Coping; Health literacy; Integrative model of health literacy; Rare developmental defect; Rare disease; Rare disorders; Rare genetic disorder; Scoping review.

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Conflict of interest statement

The authors declare that they have no competing interests.

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References

1. EURORDIS. What is a rare disease? [Internet]. EURORDIS. 2022 [cited 2023 Jun 2]. https://www.eurordis.org/information-support/what-is-a-rare-disease/
1. Haendel M, Vasilevsky N, Unni D, Bologa C, Harris N, Rehm H, et al. How many rare diseases are there? Nat Rev Drug Discov. 2020;19:77–8. 10.1038/d41573-019-00180-y - DOI - PMC - PubMed
1. Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28:165–73. 10.1038/s41431-019-0508-0 - DOI - PMC - PubMed
1. Rare diseases [Internet]. European Commission. [cited 2023 Jun 6]. https://health.ec.europa.eu/non-communicable-diseases/expert-group-publi...
1. The Ministry of Health and Care Services. Nasjonal strategi for sjeldne diagnoser [Internet]. 2021 Aug. https://www.regjeringen.no/no/dokumenter/nasjonal-strategi-for-sjeldne-d...

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A scoping review of health literacy in rare disorders: key issues and research directions

Affiliations

A scoping review of health literacy in rare disorders: key issues and research directions

Authors

Affiliations

Abstract

Conflict of interest statement

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References

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MeSH terms

LinkOut - more resources

Full Text Sources

Medical