
==== Front
Orphanet J Rare Dis
Orphanet J Rare Dis
Orphanet Journal of Rare Diseases
1750-1172
BioMed Central London

3332
10.1186/s13023-024-03332-5
Review
A scoping review of health literacy in rare disorders: key issues and research directions
http://orcid.org/0000-0002-6007-8630
Stenberg Una ust@frambu.no

12
Westfal Lydia 1
Dybesland Rosenberger Andreas 3
Ørstavik Kristin 4
Flink Maria 5
Holmen Heidi 6
Systad Silje 7
Westermann Karl Fredrik 2
Velvin Gry 8
1 Frambu Resource Center for Rare Disorders, Sandbakkveien 18, Siggerud, 1404 Norway
2 https://ror.org/00j9c2840 grid.55325.34 0000 0004 0389 8485 Norwegian National Advisory Unit on Learning and Mastery in Health, Oslo University Hospital, Postboks 4959 Nydalen, Oslo, 0424 Norway
3 https://ror.org/030v5kp38 grid.412244.5 0000 0004 4689 5540 National Neuromuscular Centre Norway, University Hospital of North-Norway, Hansine Hansens vei 37, Tromsø, 9019 Norway
4 https://ror.org/00j9c2840 grid.55325.34 0000 0004 0389 8485 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
5 https://ror.org/056d84691 grid.4714.6 0000 0004 1937 0626 Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Solnavägen 1, Solna, 171 77 Sweden
6 https://ror.org/04q12yn84 grid.412414.6 0000 0000 9151 4445 Oslo Metropolitan University, Postbox 4, St. Olavs place, Oslo, N-0130 Norway
7 grid.55325.34 0000 0004 0389 8485 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
8 grid.416731.6 0000 0004 0612 1014 TRS Resource Centre for Rare Diseases, Sunnaas Rehabilitation Hospital, Bjørnemyrveien 11, 1453 Bjørnemyr, Norway
6 9 2024
6 9 2024
2024
19 32825 10 2023
21 8 2024
© The Author(s) 2024
2024
https://creativecommons.org/licenses/by/4.0/ Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
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.

Supplementary Information

The online version contains supplementary material available at 10.1186/s13023-024-03332-5.

Keywords

Health literacy
Coping
Rare disorders
Rare disease
Rare genetic disorder
Rare developmental defect
Integrative model of health literacy
Scoping review
issue-copyright-statement© Institut National de la Santé et de la Recherche Médicale (INSERM) 2024
==== Body
pmcIntroduction

In Europe, a disorder is considered rare when it affects less than 1:2000 individuals [1]. According to current calculations, more than 7000 different rare disorders have been identified. However, it is plausible that the actual number may be as high as 10,000 [2]. Although each rare disorder affects a limited quantity of individuals, it is estimated that the combined prevalence of all rare diseases is 3,5–5,9% [3]. Accordingly, up to 36 million people residing in the European Union are living with a rare disease [4]. Out of the total rare disorders, 72% have a genetic aetiology, and 70% have childhood onset [3]. Whilst there is a large clinical diversity between the rare disorders, they tend to have some aspects in common; they are known for being chronic, complicated, mostly degenerating, and often disabling [5].

Persons with rare disorders face some unique challenges in accessing information on their diagnosis, which may lead to issues in making beneficial health choices regarding treatment and care [6]. A key issue with rare disorders is the lack of research in the field [7, 8]. Insufficient evidence and knowledge on rare diseases in general pose challenges both for professionals and people with these diseases [8]. Due to healthcare professionals’ limited understanding of their rare disorder in general, as well as a lack of information provided, persons with rare disorders often need to search for health-related information themselves [6]. A systematic review published in 2017 aimed to provide an overview of adults` shared experience of living with a rare disorder, found that in 12 out of 21 reports, persons with rare disorders reported progressively becoming “experts” on their own diagnosis [9]. In some cases, those living with rare disorders possess more information about the condition than the healthcare professionals they encounter [10].

Healthcare systems are increasingly challenging to navigate [11]. Simultaneously, the healthcare services share prospective aims of prioritising digitization, enabling more home-based care, promoting shared decision-making, and ensuring equitable access to services [5, 12, 13]. Managing one’s health while dealing with a rare disorder and the responsibility of seeking information can be especially demanding due to the challenging standards set by the healthcare system [6].

Increased participation and responsibility for one’s own health impose a demand on the individual to have adequate health literacy. Health literacy pertains to individuals’ ability to manage the complex health requirements of today’s society and make informed decisions regarding health [14]. This includes understanding the factors that affect one’s health, addressing health challenges, and making appropriate health choices. There is a lack of consensus on the definition of health literacy, and multiple interpretations have been made [14]. A review by Sørensen et al. [15] identified as many as 17 different definitions of health literacy and created a working definition of health literacy by considering the contents of each interpretation. The inclusive definition according to Sørensen et al. is stated as follows:“Health literacy is linked to literacy and entails people’s knowledge, motivation and competencies to access, understand, appraise, and apply health information in order to make judgments and take decisions in everyday life concerning healthcare, disease prevention and health promotion to maintain or improve quality of life during the life course.” (ref p. 3).

Along with the comprehensive definition, Sørensen et al. developed an integrated model of health literacy [15]. The model has been widely used to understand the complex interaction between individual skills and abilities related to health literacy, social and environmental factors, and health outcomes. The core elements of the model are four cognitive competencies; to access, understand, appraise, and apply health-related information. These four competencies allow a person to manoeuvre three identified domains on the health spectrum: healthcare, disease prevention, and health promotion. The model suggests that an individual’s ability to access and use health information is determined by their own skills, motivation, and knowledge as well as the social and environmental context they reside within. These conditions, accordingly, affect individuals’ ability to address their health and ultimately impact their health outcomes.

Sorensen’s model emphasises that components such as empowerment, health outcomes, and health behaviour are interlaced and connected to an individual’s health literacy. Enhancing the level of health literacy allows individuals to become more empowered and take charge of their health, participate in health-promoting behaviours, and gradually attain improved health outcomes [15]. Thus, participation and empowerment can give persons with rare disorders enhanced control over their own health and treatment, and increased involvement in decision-making processes that concern their health. This may lead to better health outcomes and elevated health-related quality of life, which remain crucial as persons with rare disorders report lower quality of life compared to those with more common chronic conditions [16]. They can feel stigmatised and marginalised in the healthcare system, and it can be challenging to find psychosocial support. Examining how to increase health literacy and empowerment for persons with rare disorders can therefore be an important and relevant direction for further research. Health literacy of individuals with rare disorders is an emerging field of research, and the literature is based on a wide range of study methodologies [7, 8]. Hence, this scoping review aims to give a comprehensive overview of empirical reports (from primary research studies) investigating health literacy among persons with rare disorders as reported in the international literature, by identifying characteristics of definitions, study populations, methods and interventions.

Methods

Study design and research questions

The scoping review process described by Arksey and O`Malley [17] aims to: “(…) map rapidly the key concepts underpinning a research area and the main sources and types of evidence available and can be undertaken as a stand-alone project in their own right, especially where an area is complex or has not been reviewed comprehensively before.” A scoping review methodology is also suitable for examining the extent, range, variety, and characteristics of evidence on a topic, but also to identify research gaps. This scoping review was conducted according to the five-stage framework by Arksey and O`Malley [17], enhanced by Levac [18] and Daudt [19] and reported according to the PRISMA Extension for Scoping Reviews [20] (shown in Additional file 1). A protocol for this review is available on request.

The aim of this review was to identify the characteristics of research on health literacy in rare disorders. The specific research questions were:

What are the characteristics of study populations?

When and where have reports on health literacy been carried out?

What are the characteristics of research questions used to investigate health literacy?

What are the characteristics of methods used to investigate health literacy?

What are the characteristics of assessment tools used to measure health literacy?

What are the characteristics of interventions that have been described in the reports?

How is health literacy defined or described in the reports?

How is access to health information and support for individuals with rare disorders described the reports?

Overarching participatory approach

The study group in this scoping review included one co-researcher, one with experiential knowledge trained in research methods, several experienced healthcare professionals in the field of rare disorders, working in clinical practice (specialized health care), and experienced researchers in health literacy and scoping review methodology. All members have been involved in all stages of the review process.

Eligibility criteria

This scoping review included primary research reports that investigated health literacy in adults with rare disorders. Reports were included if they had investigated the individual`s capacities, skills and motivation to make judgements and decisions in everyday life concerning healthcare, disease prevention and health promotion in persons with a rare disorder. While being 18 years of age or older was set as a search criterion, reports that included both adults and persons below 18 were not excluded. Empirical reports in English and Scandinavian languages published in peer-reviewed journals were included. All study designs were included. Dissertations, reports published in abstract form only, editorials, commentaries and duplicates were excluded.

Systematic searches

In the first stage, research questions were developed by the study group in a highly iterative process. We agreed to apply a broad variety of synonyms, conducting many and extensive pilot searches and simultaneously enhancing the search strategy, and clarify the criteria for inclusion and exclusion of reports. A senior academic librarian, in close collaboration with the first author, developed a systematic literature search using MeSH-terms and free search terms combining a comprehensive set of synonyms and terms for health literacy and rare disorders. Both the librarian and the researchers in the study group had experience with previous literature searches in the field of rare disorders. The literature searches complied with the PICO principles and applied a combination of “OR” within groups and “AND” between groups. Searches were conducted in Medline (Ovid), Embase (Ovid), PsycInfo (Ovid), CINAHL (ebsco), and ERIC (Ovid) for publications between 2010 and 2021. No other sources for literature were searched for this review. The complete search strategy is displayed in Additional file 2.

Selection of publications

All titles and abstracts were reviewed by the first author (US) and one of the co-authors independently using the systematic review software Covidence (Veritas Health Innovation). Disagreements and conflicts were resolved through discussion with a third review author.

Data extraction

All data from the included reports were extracted according to study characteristics, participant characteristics included ORPHA and ICD-codes, description of interventions, methods, assessment tools, definitions and understanding of health literacy was collected using data extraction forms and reported separately for each study in evidence summaries (Supplementary Material 4–9: Tables 2–6). A full reference list of included reports is presented in Additional file 3. Extracted data is presented in a descriptive manner using text, tables and figures. All members of the study group participated in the data extraction. We did not attempt to contact the authors in this review process.

Results

The search of the online databases resulted in 5999 reports when duplicates were removed. From these, 5794 were excluded because they did not fulfil the inclusion criteria. A total of 177 reports were downloaded in full text and read by two authors. Of these, 102 reports were excluded, leaving 75 to undergo analysis in this review (Fig. 1). All the included reports were in English language.

Fig. 1 Prisma flow diagram

Characteristics of study populations

A total of 6223 persons with a rare disorder and 1707 caregivers were represented in the 75 included reports. About 70% of the reports were based on data from samples with less than 100 participants. About 15% of the reports were based on samples with more than 200 participants. Of the included participants in the reports, about 60% were female. Of the reports that reported the mean age of the participants, approximately 75% of the participants were between 30 and 50 years of age. About 15% of the reports had participants with a mean age over 55 years, and eleven reports had participants with a mean age under 25 years.

The reports in this review have included study participants representing a total of 80 different rare disorders with unique ORPHA and ICD-10 codes. A detailed description of diagnoses is given in Table 1 (Additional file 4). Five of the reports included participants across rare disorders but did not specify what type of disorders. Most of the rare disorders had been investigated in one or two reports, but a few disorders were investigated in several reports: different types of Hemophilia were investigated in 24/75 reports, Cystic Fibrosis in 14/75 reports, Huntington’s disease in 7/75 reports, Scleroderma in 4/75 reports and Myotonic dystrophy type 1, Neurofibromatosis type 1 and Spina bifida in 3/75 reports.

Where and when have reports on health literacy been carried out?

Of the 75 included reports, 21 were conducted in the USA, 11 in Canada and eight in the UK (see Table 2 for details in Additional file 9). The included reports were published between 2010 and 2021, 54/75 after 2016.

Characteristics of research questions

The research questions most frequently investigated among the included reports were related to assessments of experienced knowledge and different health- and/or psychosocial outcomes (31/75). The second most investigated research questions (27/75) were about persons with rare disorders’ views, experiences and understanding of their own condition, care, health information, management, transition process or peer support (see Table 6 for details in Additional file 8). In addition, 16 reports were conducted to evaluate an intervention aimed to improve or strengthen participants` knowledge, health literacy or coping, and therefore included in this review.

Characteristics of methodological design

Of the included reports, 28/75 applied a quantitative cross-sectional design to explore characteristics of patient groups in terms of knowledge and disease-related variables. Among the cross-sectional reports, both digital and paper-based surveys were used, and some gathered data through medical charts or personal interviews. In addition, fourteen reports applied an experimental design investigating either the feasibility or effects of specific interventions, mainly to increase knowledge or health literacy. Among the qualitative designs (28/75), individual interviews were frequently applied, less so focus groups. Most of the qualitative reports aimed to explore experiences and gain insight into the views of persons who are living with a rare disorder, for example, needs of information and support, barriers to care and communication with health care providers. To present the qualitative results, a thematic analysis approach was most frequently applied. A minority of reports (5/75) reported a mixed or multi-method approach, combining interviews and surveys (see Table 3 for more details, Additional file 5).

Characteristics of assessment tools

Five of the assessment tools measured health literacy specifically. However, 23 standardized assessment tools aimed to assess important aspects relevant to health literacy, such as self-management skills, coping and medication adherence. Table 4 provides an overview of the standardised assessment tools used to measure health outcomes (Additional file 6). Quality of life was the outcome assessed most frequently (10/75) and was most commonly assessed with SF36 (4/75). Seven reports examined anxiety levels, while six estimated depression. Hospital Anxiety and Depression Scale (HAD) was the most commonly utilized tool to assess anxiety and depression (3/75). Correspondingly, 27 study-specific assessment tools sought to achieve outcomes closely related to health literacy, including health information-seeking patterns, medication information sources and knowledge, attitude and behaviour towards their condition. For a more detailed review of study-specific assessment tools, see Table 5 (Additional file 7).

Characteristics of interventions

A total of 16/75 of the reports included interventions. Each intervention originated from a distinct study and had diverse characteristics in terms of study design, objectives, intended recipients, implementation settings, and delivery personnel, including healthcare professionals and peers. Additional information regarding this is provided in Table 6 (Additional file 8). The interventions encompassed both face-to-face approaches, such as individual sessions [21–27] and group-based patient education [22, 26, 28–34], and written information/online training [29, 31, 35–37]. The interventions took place in a variety of settings, including hospitals, clinics, and online platforms. The common thread between the interventions is that they all share the objective of enhancing patient outcomes and experiences through education, support, and empowerment. For example, they aim to improve knowledge, health literacy, and self-treatment skills, as well as to promote treatment adherence and reduce interruptions in care. In 9/16 interventions, the primary aim was to improve knowledge or understanding of the patient’s particular health condition or treatment. These nine interventions applied various components such as audiovisual materials, individualised training courses, or booklets. Out of those nine interventions, six demonstrated a significant (p < 0.05) improvement in knowledge of the targeted health condition or treatment [21, 25, 28, 32, 36, 37].

Out of all interventions, 5/16 aimed predominantly at reducing psychiatric symptoms, such as depression, anxiety, and somatic symptom severity. Several interventions displayed positive effects on mental health, including improvements in emotional health, coping strategies, and quality of life [22, 26, 28, 29, 32, 33, 35]. Examples of such interventions included group counselling and group mindfulness training. The interventions were evaluated using methods such as self-report questionnaires, physiological measures, and clinical assessments. The outcomes measured included improvements in physical health, mental health, quality of life, and social support.

Description of health literacy

Only 6/75 reports described in the introduction how they defined health literacy [21, 38–42]. Five of these reports were based on the understanding and definition of health literacy as the cognitive and social skills that determine the motivation and ability of individuals to gain access to, understand and use information in ways that promote and maintain good health (WHO). One of the reports defined health literacy as “the patients’ skills on reading, listening, analysing decisions making and applying these skills to the situation related to health monitoring and coordination for strategy plan in term of health promotion” [42].

Access to health information and support

Most of the reports included in this review investigated knowledge or understanding of one’s own health and diagnosis, and access to health information. Persons with rare disorders commonly lack information about:

Own diagnosis and health [43–58].

Self-management and daily coping [6, 10, 54, 59–63].

Medication, treatment options and research-based recommendations [6, 10, 28, 51, 64–67].

Peer and professional support [53–55].

Clinical trials and research [53–55].

Sexual knowledge [68–71].

Behaviour and attitude [28, 72, 73].

Social rights [28, 60].

Pregnancy and childbirth [51, 60].

Ageing [71].

Navigation and coordination [23].

The most important sources of health information summarized among the included reports were physicians, the internet, patient organizations and spouse/partner [74–76]. Transitions in life can be challenging and generate new needs for information and care. Three of the reports investigated the transition process from paediatric to adult services [23, 77, 78]. Persons with rare disorders and their family caregivers call for health information on various aspects of the disease burden including medical research and treatment, coping strategies, management, symptoms and general knowledge about the disease [57, 63].

Only a few reports investigated how persons with rare disorders are navigating in healthcare and their experiences of healthcare services. These reports found that many persons with rare disorders feel let down by the system- and lack trust in the standards of health care [54, 79–81]. Several reports described the frustration among persons with rare disorders because of a lack of knowledge about diagnosis and medication by healthcare professionals [54, 56, 59, 62, 73, 81, 82] and concerns about poor communication and information provision [83].

Some of the reports described the experiences of persons with rare disorders concerning limited access to peer- and professional support, like specialized care, treatment plans and access to peer groups [34, 53, 61, 62, 84–86]. Persons with rare disorders missed the engagement in health care to assist in their management of the disease [85], and one report claimed that hospital visits could be reduced with more information [52].

Several reports have investigated peer support [6, 22, 28, 44, 50, 81, 82, 87–89]. Persons with rare disorders who connected and interacted with fellow individuals with rare disorders reported great improvements in overall health, disease severity, motivation to take care of health, emotional well-being and satisfaction with their primary treating physician [66, 69].

Discussion

This scoping review identified 75 reports presenting data on rare disorders and aspects of health literacy, thereby providing valuable insight into the characteristics of research in the field of health literacy in individuals with rare disorders. A total of 6223 individuals with rare disorders and 1707 caregivers were included, and 80 different rare disorders were represented. Most of the studies were published after 2016, and were conducted in the USA, Canada and UK. The most frequently investigated research questions were related to different health- and psychosocial outcomes, understanding of own condition, health information and support, or concerning evaluation of an intervention. The reports used a variety of research methodologies, including qualitative, quantitative, and mixed methods approaches. Cross-sectional designs were frequently employed to depict patient characteristics, knowledge and health-related variables, and qualitative designs were commonly used to capture the perspectives of persons living with rare disorders. In total 23 standardized assessment tools and 27 study-specific assessment used in the reports. Only five assessment tools measured health literacy specifically. Some of the reports also assessed interventions to improve elements such as knowledge, health literacy and coping strategies. These interventions encompassed both face-to-face approaches, such as individual sessions and group-based patient education.

Only six reports had described how they defined health literacy. Five of these reports were based on the understanding and WHO-definition of health literacy as the cognitive and social skills that determine the motivation and ability of individuals to gain access to, understand and use information in ways that promote and maintain good health (WHO). Concerning access to health information and support, the results revealed that individuals with rare disorders often exhibit gaps in 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.

A recurring issue identified among the reports was that individuals with rare disorders consistently encounter challenges in accessing information on their own health and diagnosis, self-managing and coping [43–58]. This observation has been established in previous research and can sometimes be ascribed to a lack of knowledge among healthcare personnel [6, 9, 10]. The understanding and appraisal of health information could pose difficulties since the information available on rare conditions often is complex and contains medical terminology that is challenging to comprehend. This particularly applies to those with cognitive impairments, which pertains to 44% of the rare disease population [90]. More than 7000 rare disorders are identified, and only 80 of these disorders are represented in this review. More than 50% of the included reports have included study participants with Haemophilia, Cystic Fibrosis and Huntington’s disease, which means that a range of different rare disorders have not been included in health literacy research. A majority of the interventions in this study focused on increasing knowledge and understanding of one’s own health and treatment. Acquiring the skills to apply health knowledge to everyday life efficiently can profoundly impact health outcomes and is especially important when it comes to self-management, such as adherence to medication and treatment [15, 91–95].

Another possible challenge related to access to information and support is the often-large geographical distances between persons with rare disorders. This may result in difficulties when it comes to meeting or participating in peer-support groups in person [96]. Peer interactions appear particularly important in this population [6, 53–55], and several of the perceived benefits of the interventions in this review were associated with the recognition, acceptance and companionship encountered within peer-support groups [16, 28, 32, 35]. Interestingly, none of the included reports explored the potential benefits of online peer support, which has been found to be an effective supplement to in-person meetings in people with other disorders.

While there is reason to believe that health literacy has a significant impact on health outcomes, only one of the included reports investigated this possible correlation, finding that individuals who possessed adequate health literacy displayed more favourable health-related outcomes [38]. In that report, the authors observed that individuals who possessed adequate health literacy displayed more favourable health-related outcomes. None of the included reports explored health literacy across various types of rare disorders. One prominent finding across the reviewed reports is the shortage of accessible health information specifically targeted towards individuals with rare conditions. There is a need to investigate if there are structural or social barriers that limit access to information and support for the population. Furthermore, it would be valuable to examine the underlying factors that impact health literacy in persons with rare disorders, including the association between health literacy and socio-demographic variables, health status, self-efficacy and health-related quality of life. Another potential research topic could be to evaluate the success of interventions aiming at improving health literacy in persons with rare disorders and their caregivers.

To the best of our knowledge, only four previous reports have explicitly aimed to examine the levels of health literacy in persons with rare disorders [38–40, 42]. Furthermore, the data does not provide enough information to say anything about relatives’ health literacy. Enhancing health literacy is known to be an enabler for improved empowerment and participation, which is associated with positive health outcomes [13, 94]. Empowerment is especially important in the field of rare disorders, due to the unique challenges of low prevalence, limited knowledge and expertise, and compromised quality of life [94].

To achieve a better understanding of health literacy in rare disorders, we could benefit from the incorporation of different perspectives, including those of persons with rare disorders, their family members and healthcare providers. We need future research on how different dimensions of health literacy, and interventions aiming to strengthen health literacy, influence health outcomes according to health care, disease prevention and health promotion. We need to achieve a deeper understanding of how the personal determinants of health literacy, such as individual skills and motivation, interact with situational determinants, such as social and environmental factors, to shape health outcomes. To properly address the executive challenges faced by persons with rare disorders we need a greater understanding of health literacy in rare disorders [28]. The integrated model of health literacy [15] can serve as a tool to point us in the right direction when designing future research projects.

The strength of our work lies in providing a comprehensive overview of the reported findings from research on health literacy in rare disorders. We conducted an up-to-date systematic search in five databases without restrictions. Despite using an array of synonyms in database searches to maximise the identification of relevant reports, the search terms used are not exhaustive. Hence, some reports may not have been detected. To reduce the risk of selection bias, two authors independently assessed the abstracts and reports in full text according to the a priori eligibility criteria. Further, in line with the scoping review framework, we have not evaluated the methodological quality or risk of bias among the included reports. This may be seen as a limitation; however, the purpose of scoping reviews is to give an overview of the available research literature, characterise a research area and pinpoint gaps in knowledge that should be addressed in future systematic reviews.

This review has important implications for practice. Healthcare does not offer curative treatment options for most rare disorders, and several reports suggest the development of consensus recommendations for care. To optimise health and secure continuity of care several reports included in this review recommend formalisation of the transition process through the courses of illness and life. Moreover, the results reveal that some of the key challenges for persons with rare disorders are related to important aspects of health literacy, such as accessing, understanding, and applying health information. Our findings indicate a need for strengthened health literacy in the rare disease population, that could be accomplished by developing health communication strategies tailored to the needs and preferences of persons with rare conditions. Healthcare personnel can play a significant role in enhancing health literacy, which is an additional implication for practice. Health care personnel can achieve this by offering clear and understandable health-related information and encouraging an active dialogue between patients and professionals. Another way for healthcare personnel to assist persons with rare disorders is by offering them the support needed to accept, cope, and effectively manage their condition [97].

Conclusion

This scoping review consists of 75 reports presenting data on rare disorders and aspects of health literacy, thereby providing valuable insight into the characteristics of research in the field of health literacy in individuals with rare disorders. In total, 6223 individuals with rare disorders and 1707 caregivers were included, and 80 different rare disorders were represented. Most of the studies were published after 2016, and were conducted in the USA, Canada and UK.

The findings of this scoping review demonstrate that persons with rare disorders experience considerable gaps in knowledge and information, particularly in relation to their own diagnosis and health, treatment options, self-management and coping strategies. Moreover, the lack of diagnosis-specific knowledge and limited information provided by healthcare professionals are identified as a common concern among persons with rare disorders. Access to, and understanding, health information is key aspects of health literacy. Therefore, our results imply a need for increased awareness regarding the state of health literacy among individuals with rare disorders. The points of view expressed in this review offer valuable perspectives that can help health personnel in outlining the communicative strategy when caring for individuals with rare disorders.

This review provides a solid understanding block for future research into the emerging field of health literacy in rare disorders, by examining the challenges that persons with rare conditions encounter. Moreover, the findings enable us to develop a better understanding of the care and support persons with a rare disorder and their family members require.

These results pave the way for future research that looks to improve the healthcare experience of those with rare disorders and their caretakers and shed light on the importance of empowering the rare disease population through peer support, participation, education and increased health literacy. Future reports in this field are necessary to develop strategies and interventions that improve health literacy and enhance health outcomes and the quality of life for individuals with rare disorders.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary Material 1

Supplementary Material 2

Supplementary Material 3

Supplementary Material 4

Supplementary Material 5

Supplementary Material 6

Supplementary Material 7

Supplementary Material 8

Supplementary Material 9

Acknowledgements

The authors want to thank leaders and colleagues. A special thank goes to librarian Hilde Iren Flaatten who has conducted systematic searches after literature and Anne Siri Albrigtsen for important contributions to this review. Several of the authors are members of Euro-NMD.

Author contributions

All the authors (US, GV, SS, KØ, KFW, HH, ADR, MF) except LW have contributed in the conception, design and analysis of data and interpretation of data. US has led all the phases of the review, and LW has contributed in the analysis and interpretation of data, and in writing the manuscript. All authors have read and approved the final manuscript.

Funding

This work received funding from Norwegian National Advisory Unit on Rare Disorders. In addition the work was performed as part of regular activities at Frambu Resource Centre for Rare Disorders and Norwegian National Advisory Unit on Learning and Mastery in Health, Oslo University Hospital.

Data availability

All data generated or analysed during this review are included in this published article (and its additional files).

Declarations

Ethics approval and consent to participate

Not applicable.

Consent for publication

Not applicable.

Competing interests

The authors declare that they have no competing interests.

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
==== Refs
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/
2. Haendel M Vasilevsky N Unni D Bologa C Harris N Rehm H How many rare diseases are there? Nat Rev Drug Discov 2020 19 77 8 10.1038/d41573-019-00180-y 32020066
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;19:77–8.32020066 10.1038/d41573-019-00180-y
3. Nguengang Wakap S Lambert DM Olry A Rodwell C Gueydan C Lanneau V 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 31527858
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;28:165–73.31527858 10.1038/s41431-019-0508-0
4. Rare diseases [Internet]. European Commission. [cited 2023 Jun 6]. https://health.ec.europa.eu/non-communicable-diseases/expert-group-public-health/rare-diseases_en
5. 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-diagnoser/id2867121/
6. Stanarević Katavić S Health information behaviour of rare disease patients: seeking, finding and sharing health information Health Info Libr J 2019 36 341 56 10.1111/hir.12261 31099979
Stanarević Katavić S. Health information behaviour of rare disease patients: seeking, finding and sharing health information. Health Info Libr J. 2019;36:341–56.31099979 10.1111/hir.12261
7. Zhu Q Nguyễn Ð-T Sheils T Alyea G Sid E Xu Y Scientific evidence based rare disease research discovery with research funding data in knowledge graph Orphanet J Rare Dis 2021 16 483 10.1186/s13023-021-02120-9 34794473
Zhu Q, Nguyễn Ð-T, Sheils T, Alyea G, Sid E, Xu Y, et al. Scientific evidence based rare disease research discovery with research funding data in knowledge graph. Orphanet J Rare Dis. 2021;16:483.34794473 10.1186/s13023-021-02120-9
8. Stoller JK The challenge of Rare diseases Chest 2018 153 1309 14 10.1016/j.chest.2017.12.018 29325986
Stoller JK. The challenge of Rare diseases. Chest. 2018;153:1309–14.29325986 10.1016/j.chest.2017.12.018
9. von der Lippe C Diesen PS Feragen KB Living with a rare disorder: a systematic review of the qualitative literature Mol Genet Genomic Med 2017 5 758 73 10.1002/mgg3.315 29178638
von der Lippe C, Diesen PS, Feragen KB. Living with a rare disorder: a systematic review of the qualitative literature. Mol Genet Genomic Med. 2017;5:758–73.29178638 10.1002/mgg3.315
10. Kesselheim AS McGraw S Thompson L O’Keefe K Gagne JJ Development and use of new therapeutics for rare diseases: views from patients, caregivers, and advocates Patient 2015 8 75 84 10.1007/s40271-014-0096-6 25362528
Kesselheim AS, McGraw S, Thompson L, O’Keefe K, Gagne JJ. Development and use of new therapeutics for rare diseases: views from patients, caregivers, and advocates. Patient. 2015;8:75–84.25362528 10.1007/s40271-014-0096-6
11. Kickbusch I, Pelikan J, Apfel F, Tsouros AD. Health literacy. The solid facts [Internet]. WHO Regional Office for Europe, Copenhagen; 2013. https://apps.who.int/iris/handle/10665/326432
12. Sør-Øst H. Regional utviklingsplan 2040 [Internet]. 2022 [cited 2023 May 25]. https://helse-sorost.no/regional-utviklingsplan-2040
13. Omsorgsdepartementet H-. og. Strategi for å øke helsekompetansen i befolkningen 2019–2023. 2019 [cited 2023 May 25]; https://www.regjeringen.no/no/dokumenter/strategi-for-a-oke-helsekompetansen-i-befolkningen-2019-2023/id2644707/
14. Kickbusch I, Maag D. Health Literacy [Internet]. International encyclopedia of public health. Elsevier; 2008. pp. 204–11. 10.1016/b978-012373960-5.00584-0
15. Sørensen K, Van den Broucke S, Fullam J, Doyle G, Pelikan J, Slonska Z et al. Health literacy and public health: a systematic review and integration of definitions and models. BMC Public Health [Internet]. 2012;12. 10.1186/1471-2458-12-80
16. Bogart KR Irvin VL Health-related quality of life among adults with diverse rare disorders Orphanet J Rare Dis 2017 12 177 10.1186/s13023-017-0730-1 29212508
Bogart KR, Irvin VL. Health-related quality of life among adults with diverse rare disorders. Orphanet J Rare Dis. 2017;12:177.29212508 10.1186/s13023-017-0730-1
17. Arksey H O’Malley L Scoping studies: towards a methodological framework Int J Soc Res Methodol 2005 8 19 32 10.1080/1364557032000119616
Arksey H, O’Malley L. Scoping studies: towards a methodological framework. Int J Soc Res Methodol. 2005;8:19–32.10.1080/1364557032000119616
18. Levac D Colquhoun H O’Brien KK Scoping studies: advancing the methodology Implement Sci 2010 5 69 10.1186/1748-5908-5-69 20854677
Levac D, Colquhoun H, O’Brien KK. Scoping studies: advancing the methodology. Implement Sci. 2010;5:69.20854677 10.1186/1748-5908-5-69
19. Daudt HML van Mossel C Scott SJ Enhancing the scoping study methodology: a large, inter-professional team’s experience with Arksey and O’Malley’s framework BMC Med Res Methodol 2013 13 48 10.1186/1471-2288-13-48 23522333
Daudt HML, van Mossel C, Scott SJ. Enhancing the scoping study methodology: a large, inter-professional team’s experience with Arksey and O’Malley’s framework. BMC Med Res Methodol. 2013;13:48.23522333 10.1186/1471-2288-13-48
20. Tricco AC Lillie E Zarin W O’Brien KK Colquhoun H Levac D PRISMA Extension for scoping reviews (PRISMA-ScR): Checklist and Explanation Ann Intern Med 2018 169 467 73 10.7326/M18-0850 30178033
Tricco AC, Lillie E, Zarin W, O’Brien KK, Colquhoun H, Levac D, et al. PRISMA Extension for scoping reviews (PRISMA-ScR): Checklist and Explanation. Ann Intern Med. 2018;169:467–73.30178033 10.7326/M18-0850
21. Bhatt N Boggio L Simpson ML Using an educational intervention to assess and improve disease-specific knowledge and health literacy and numeracy in adolescents and young adults with haemophilia A and B Haemophilia 2021 27 229 36 10.1111/hae.14228 33590938
Bhatt N, Boggio L, Simpson ML. Using an educational intervention to assess and improve disease-specific knowledge and health literacy and numeracy in adolescents and young adults with haemophilia A and B. Haemophilia. 2021;27:229–36.33590938 10.1111/hae.14228
22. Bogart KR, Frandrup E, Locke T, Thompson H, Weber N, Yates J et al. Rare place where I feel normal: Perceptions of a social support conference among parents of and people with Moebius syndrome. Res Dev Disabil. 2017;64:143–51.
23. Chaudhry SR Keaton M Nasr SZ Evaluation of a cystic fibrosis transition program from pediatric to adult care Pediatr Pulmonol 2013 48 658 65 10.1002/ppul.22647 22888094
Chaudhry SR, Keaton M, Nasr SZ. Evaluation of a cystic fibrosis transition program from pediatric to adult care. Pediatr Pulmonol. 2013;48:658–65.22888094 10.1002/ppul.22647
24. Dicianno BE Lovelace J Peele P Fassinger C Houck P Bursic A Effectiveness of a Wellness Program for individuals with Spina Bifida and spinal cord Injury within an Integrated Delivery System Arch Phys Med Rehabil 2016 97 1969 78 10.1016/j.apmr.2016.05.014 27311718
Dicianno BE, Lovelace J, Peele P, Fassinger C, Houck P, Bursic A, et al. Effectiveness of a Wellness Program for individuals with Spina Bifida and spinal cord Injury within an Integrated Delivery System. Arch Phys Med Rehabil. 2016;97:1969–78.27311718 10.1016/j.apmr.2016.05.014
25. le Doré S Grinda N Ferré E Roussel-Robert V Frotscher B Chamouni P The hemarthrosis-simulating knee model: a useful tool for individualized education in patients with hemophilia (GEFACET study) J Blood Med 2021 12 133 8 10.2147/JBM.S280032 33727876
le Doré S, Grinda N, Ferré E, Roussel-Robert V, Frotscher B, Chamouni P, et al. The hemarthrosis-simulating knee model: a useful tool for individualized education in patients with hemophilia (GEFACET study). J Blood Med. 2021;12:133–8.33727876 10.2147/JBM.S280032
26. Ringqvist K Borg K Möller MC Tolerability and psychological effects of a multimodal day-care rehabilitation program for persons with Huntington’s disease J Rehabil Med 2021 53 jrm00143 10.2340/16501977-2748 32989469
Ringqvist K, Borg K, Möller MC. Tolerability and psychological effects of a multimodal day-care rehabilitation program for persons with Huntington’s disease. J Rehabil Med. 2021;53:jrm00143.32989469 10.2340/16501977-2748
27. van Balen EC Krawczyk M Gue D Jackson S Gouw SC van der Bom JG Patient-centred care in haemophilia: patient perspectives on visualization and participation in decision-making Haemophilia 2019 25 938 45 10.1111/hae.13830 31531924
van Balen EC, Krawczyk M, Gue D, Jackson S, Gouw SC, van der Bom JG, et al. Patient-centred care in haemophilia: patient perspectives on visualization and participation in decision-making. Haemophilia. 2019;25:938–45.31531924 10.1111/hae.13830
28. Chaleat-Valayer E Amélie Z Marie-Hélène B Perretant I Sandrine T Therapeutic education program for patients with hypermobile Ehlers-Danlos syndrome: feasibility and satisfaction of the participants. Education thérapeutique Du patient Therapeutic Patient Educ 2019 11 10202 10.1051/tpe/2019002
Chaleat-Valayer E, Amélie Z, Marie-Hélène B, Perretant I, Sandrine T. Therapeutic education program for patients with hypermobile Ehlers-Danlos syndrome: feasibility and satisfaction of the participants. Education thérapeutique Du patient -. Therapeutic Patient Educ. 2019;11:10202.10.1051/tpe/2019002
29. Hoefnagels JW Fischer K Bos RAT Driessens MHE Meijer SLA Schutgens REG A feasibility study on two tailored interventions to improve adherence in adults with haemophilia Pilot Feasibility Stud 2020 6 189 10.1186/s40814-020-00723-w 33292771
Hoefnagels JW, Fischer K, Bos RAT, Driessens MHE, Meijer SLA, Schutgens REG, et al. A feasibility study on two tailored interventions to improve adherence in adults with haemophilia. Pilot Feasibility Stud. 2020;6:189.33292771 10.1186/s40814-020-00723-w
30. O’Mahar K Holmbeck GN Jandasek B Zukerman J A camp-based intervention targeting independence among individuals with spina bifida J Pediatr Psychol 2010 35 848 56 10.1093/jpepsy/jsp125 20026569
O’Mahar K, Holmbeck GN, Jandasek B, Zukerman J. A camp-based intervention targeting independence among individuals with spina bifida. J Pediatr Psychol. 2010;35:848–56.20026569 10.1093/jpepsy/jsp125
31. Raphaelis S Mayer H Ott S Hornung R Senn B Effects of Written Information and Counseling on illness-related uncertainty in Women with Vulvar Neoplasia Oncol Nurs Forum 2018 45 748 60 30339152
Raphaelis S, Mayer H, Ott S, Hornung R, Senn B. Effects of Written Information and Counseling on illness-related uncertainty in Women with Vulvar Neoplasia. Oncol Nurs Forum. 2018;45:748–60.30339152
32. Rovira-Moreno E Abuli A Codina-Sola M Valenzuela I Serra-Juhe C Cuscó I Beyond the disease itself: a cross-cutting educational initiative for patients and families with rare diseases J Genet Couns 2021 30 693 700 10.1002/jgc4.1354 33142000
Rovira-Moreno E, Abuli A, Codina-Sola M, Valenzuela I, Serra-Juhe C, Cuscó I, et al. Beyond the disease itself: a cross-cutting educational initiative for patients and families with rare diseases. J Genet Couns. 2021;30:693–700.33142000 10.1002/jgc4.1354
33. Stubberud J Langenbahn D Levine B Stanghelle J Schanke A-K Emotional health and coping in spina bifida after goal management training: a randomized controlled trial Rehabil Psychol 2015 60 1 16 10.1037/rep0000018 25496433
Stubberud J, Langenbahn D, Levine B, Stanghelle J, Schanke A-K. Emotional health and coping in spina bifida after goal management training: a randomized controlled trial. Rehabil Psychol. 2015;60:1–16.25496433 10.1037/rep0000018
34. Delisle VC Gumuchian ST Pelaez S Malcarne VL El-Baalbaki G Körner A Reasons for non-participation in scleroderma support groups Clin Exp Rheumatol 2016 34 Suppl 100 56 62 26950221
Delisle VC, Gumuchian ST, Pelaez S, Malcarne VL, El-Baalbaki G, Körner A, et al. Reasons for non-participation in scleroderma support groups. Clin Exp Rheumatol. 2016;34(Suppl 100):56–62.26950221
35. Depping MK Uhlenbusch N Härter M Schramm C Löwe B Efficacy of a brief, peer-delivered self-management intervention for patients with Rare Chronic diseases: a Randomized Clinical Trial JAMA Psychiatry 2021 78 607 15 10.1001/jamapsychiatry.2020.4783 33625502
Depping MK, Uhlenbusch N, Härter M, Schramm C, Löwe B. Efficacy of a brief, peer-delivered self-management intervention for patients with Rare Chronic diseases: a Randomized Clinical Trial. JAMA Psychiatry. 2021;78:607–15.33625502 10.1001/jamapsychiatry.2020.4783
36. Mulders G de Wee EM Vahedi Nikbakht-Vande Sande MCVM Kruip MJHA Elfrink EJ Leebeek FWG E-learning improves knowledge and practical skills in haemophilia patients on home treatment: a randomized controlled trial Haemophilia 2012 18 693 8 10.1111/j.1365-2516.2012.02786.x 22458978
Mulders G, de Wee EM, Vahedi Nikbakht-Van, de Sande MCVM, Kruip MJHA, Elfrink EJ, Leebeek FWG. E-learning improves knowledge and practical skills in haemophilia patients on home treatment: a randomized controlled trial. Haemophilia. 2012;18:693–8.22458978 10.1111/j.1365-2516.2012.02786.x
37. Smolich L Charen K Sherman SL Health knowledge of women with a fragile X premutation: improving understanding with targeted educational material J Genet Couns 2020 29 983 91 10.1002/jgc4.1222 31999047
Smolich L, Charen K, Sherman SL. Health knowledge of women with a fragile X premutation: improving understanding with targeted educational material. J Genet Couns. 2020;29:983–91.31999047 10.1002/jgc4.1222
38. Jackson AD Kirwan L Gibney S Jeleniewska P Fletcher G Doyle G Associations between health literacy and patient outcomes in adolescents and young adults with cystic fibrosis Eur J Public Health 2020 30 112 8 31978230
Jackson AD, Kirwan L, Gibney S, Jeleniewska P, Fletcher G, Doyle G. Associations between health literacy and patient outcomes in adolescents and young adults with cystic fibrosis. Eur J Public Health. 2020;30:112–8.31978230
39. Merker VL McDannold S Riklin E Talaei-Khoei M Sheridan MR Jordan JT Health literacy assessment in adults with neurofibromatosis: electronic and short-form measurement using FCCHL and Health LiTT J Neurooncol 2018 136 335 42 10.1007/s11060-017-2657-8 29119424
Merker VL, McDannold S, Riklin E, Talaei-Khoei M, Sheridan MR, Jordan JT, et al. Health literacy assessment in adults with neurofibromatosis: electronic and short-form measurement using FCCHL and Health LiTT. J Neurooncol. 2018;136:335–42.29119424 10.1007/s11060-017-2657-8
40. Riklin E Talaei-Khoei M Merker VL Sheridan MR Jordan JT Plotkin SR First report of factors associated with satisfaction in patients with neurofibromatosis Am J Med Genet A 2017 173 671 7 10.1002/ajmg.a.38079 28211981
Riklin E, Talaei-Khoei M, Merker VL, Sheridan MR, Jordan JT, Plotkin SR, et al. First report of factors associated with satisfaction in patients with neurofibromatosis. Am J Med Genet A. 2017;173:671–7.28211981 10.1002/ajmg.a.38079
41. LaDonna KA Ghavanini AA Venance SL Truths and misinformation: a qualitative exploration of myotonic dystrophy Can J Neurol Sci 2015 42 187 94 10.1017/cjn.2015.26 25867706
LaDonna KA, Ghavanini AA, Venance SL. Truths and misinformation: a qualitative exploration of myotonic dystrophy. Can J Neurol Sci. 2015;42:187–94.25867706 10.1017/cjn.2015.26
42. Parvizi MM Lankarani KB Handjani F Ghahramani S Parvizi Z Rousta S Health literacy in patients with epidermolysis bullosa in Iran J Educ Health Promot 2017 6 105 10.4103/jehp.jehp_64_17 29296606
Parvizi MM, Lankarani KB, Handjani F, Ghahramani S, Parvizi Z, Rousta S. Health literacy in patients with epidermolysis bullosa in Iran. J Educ Health Promot. 2017;6:105.29296606 10.4103/jehp.jehp_64_17
43. Laberge L Prévost C Perron M Mathieu J Auclair J Gaudreault M Clinical and genetic knowledge and attitudes of patients with myotonic dystrophy type 1 Public Health Genomics 2010 13 424 30 10.1159/000316238 20689257
Laberge L, Prévost C, Perron M, Mathieu J, Auclair J, Gaudreault M, et al. Clinical and genetic knowledge and attitudes of patients with myotonic dystrophy type 1. Public Health Genomics. 2010;13:424–30.20689257 10.1159/000316238
44. Rosnau K Hashmi SS Northrup H Slopis J Noblin S Ashfaq M Knowledge and self-esteem of individuals with neurofibromatosis type 1 (NF1) J Genet Couns 2017 26 620 7 10.1007/s10897-016-0036-9 27815662
Rosnau K, Hashmi SS, Northrup H, Slopis J, Noblin S, Ashfaq M. Knowledge and self-esteem of individuals with neurofibromatosis type 1 (NF1). J Genet Couns. 2017;26:620–7.27815662 10.1007/s10897-016-0036-9
45. Ioannou L Massie J Collins V McClaren B Delatycki MB Population-based genetic screening for cystic fibrosis: attitudes and outcomes Public Health Genomics 2010 13 449 56 10.1159/000276544 20090299
Ioannou L, Massie J, Collins V, McClaren B, Delatycki MB. Population-based genetic screening for cystic fibrosis: attitudes and outcomes. Public Health Genomics. 2010;13:449–56.20090299 10.1159/000276544
46. Lewis KL John B Condren M Carter SM Evaluation of medication-related self-care skills in patients with cystic fibrosis J Pediatr Pharmacol Ther 2016 21 502 11 28018152
Lewis KL, John B, Condren M, Carter SM. Evaluation of medication-related self-care skills in patients with cystic fibrosis. J Pediatr Pharmacol Ther. 2016;21:502–11.28018152
47. Lindvall K Colstrup L Loogna K Wollter I Grönhaug S Knowledge of disease and adherence in adult patients with haemophilia Haemophilia 2010 16 592 6 10.1111/j.1365-2516.2009.02189.x 20136657
Lindvall K, Colstrup L, Loogna K, Wollter I, Grönhaug S. Knowledge of disease and adherence in adult patients with haemophilia. Haemophilia. 2010;16:592–6.20136657 10.1111/j.1365-2516.2009.02189.x
48. Lonabaugh KP O’Neal KS McIntosh H Condren M Cystic fibrosis-related education: are we meeting patient and caregiver expectations? Patient Educ Couns 2018 101 1865 70 10.1016/j.pec.2018.06.004 29910140
Lonabaugh KP, O’Neal KS, McIntosh H, Condren M. Cystic fibrosis-related education: are we meeting patient and caregiver expectations? Patient Educ Couns. 2018;101:1865–70.29910140 10.1016/j.pec.2018.06.004
49. Mälstam E Bensing S Asaba E Everyday managing and living with autoimmune Addison’s disease: exploring experiences using photovoice methods Scand J Occup Ther 2018 25 358 70 10.1080/11038128.2018.1502351 30280621
Mälstam E, Bensing S, Asaba E. Everyday managing and living with autoimmune Addison’s disease: exploring experiences using photovoice methods. Scand J Occup Ther. 2018;25:358–70.30280621 10.1080/11038128.2018.1502351
50. Naik H Shenbagam S Go AM Balwani M Psychosocial issues in erythropoietic protoporphyria - the perspective of parents, children, and young adults: a qualitative study Mol Genet Metab 2019 128 314 9 10.1016/j.ymgme.2019.01.023 30711301
Naik H, Shenbagam S, Go AM, Balwani M. Psychosocial issues in erythropoietic protoporphyria - the perspective of parents, children, and young adults: a qualitative study. Mol Genet Metab. 2019;128:314–9.30711301 10.1016/j.ymgme.2019.01.023
51. Takeuchi T Muraoka K Yamada M Nishio Y Hozumi I Living with idiopathic basal ganglia calcification 3: a qualitative study describing the lives and illness of people diagnosed with a rare neurological disease Springerplus 2016 5 1713 10.1186/s40064-016-3390-z 27777849
Takeuchi T, Muraoka K, Yamada M, Nishio Y, Hozumi I. Living with idiopathic basal ganglia calcification 3: a qualitative study describing the lives and illness of people diagnosed with a rare neurological disease. Springerplus. 2016;5:1713.27777849 10.1186/s40064-016-3390-z
52. De la Corte-Rodriguez H Rodriguez-Merchan EC Alvarez-Roman T Martin-Salces M Garcia-Barcenilla S Jimenez-Yuste V Health education and empowerment in adult patients with haemophilia Expert Rev Hematol 2019 12 989 95 10.1080/17474086.2019.1650640 31393181
De la Corte-Rodriguez H, Rodriguez-Merchan EC, Alvarez-Roman T, Martin-Salces M, Garcia-Barcenilla S, Jimenez-Yuste V. Health education and empowerment in adult patients with haemophilia. Expert Rev Hematol. 2019;12:989–95.31393181 10.1080/17474086.2019.1650640
53. Braisch U Martinez-Horta S MacDonald M Orth M Important but not enough - information about HD related topics and peer and professional support for young adults from HD families J Huntingtons Dis 2016 5 379 87 10.3233/JHD-160218 27983563
Braisch U, Martinez-Horta S, MacDonald M, Orth M. Important but not enough - information about HD related topics and peer and professional support for young adults from HD families. J Huntingtons Dis. 2016;5:379–87.27983563 10.3233/JHD-160218
54. Bryson B Bogart K Atwood M Fraser K Locke T Pugh K Navigating the unknown: a content analysis of the unique challenges faced by adults with rare diseases J Health Psychol 2021 26 623 35 10.1177/1359105319828150 30786780
Bryson B, Bogart K, Atwood M, Fraser K, Locke T, Pugh K, et al. Navigating the unknown: a content analysis of the unique challenges faced by adults with rare diseases. J Health Psychol. 2021;26:623–35.30786780 10.1177/1359105319828150
55. Coathup V Teare HJA Minari J Yoshizawa G Kaye J Takahashi MP Using digital technologies to engage with medical research: views of myotonic dystrophy patients in Japan BMC Med Ethics 2016 17 51 10.1186/s12910-016-0132-2 27553007
Coathup V, Teare HJA, Minari J, Yoshizawa G, Kaye J, Takahashi MP, et al. Using digital technologies to engage with medical research: views of myotonic dystrophy patients in Japan. BMC Med Ethics. 2016;17:51.27553007 10.1186/s12910-016-0132-2
56. Etchegary H Healthcare experiences of families affected by Huntington disease: need for improved care Chronic Illn 2011 7 225 38 10.1177/1742395311403637 21602250
Etchegary H. Healthcare experiences of families affected by Huntington disease: need for improved care. Chronic Illn. 2011;7:225–38.21602250 10.1177/1742395311403637
57. Mohan R Radhakrishnan N Varadarajan M Anand S Assessing the current knowledge, attitude and behaviour of adolescents and young adults living with haemophilia Haemophilia 2021 27 e180 6 10.1111/hae.14229 33278862
Mohan R, Radhakrishnan N, Varadarajan M, Anand S. Assessing the current knowledge, attitude and behaviour of adolescents and young adults living with haemophilia. Haemophilia. 2021;27:e180–6.33278862 10.1111/hae.14229
58. Garrino L Picco E Finiguerra I Rossi D Simone P Roccatello D Living with and treating rare diseases: experiences of patients and professional health care providers Qual Health Res 2015 25 636 51 10.1177/1049732315570116 25667160
Garrino L, Picco E, Finiguerra I, Rossi D, Simone P, Roccatello D. Living with and treating rare diseases: experiences of patients and professional health care providers. Qual Health Res. 2015;25:636–51.25667160 10.1177/1049732315570116
59. Mooney J, Poland F, Spalding N, Scott DGI. In One Ear and Out the Other–Its a Lot to Take in’: A Qualitative Study Exploring the Informational Needs of Patients with ANCA-Associated Vasculitis. Musculoskeletal [Internet]. 2013; https://onlinelibrary.wiley.com/doi/abs/10.1002/msc.1030
60. David V Feldman D Danner-Boucher I Rhun AL Guyomarch B Ravilly S Identifying the educational needs of lung transplant recipients with cystic fibrosis Prog Transpl 2015 25 18 25 10.7182/pit2015526
David V, Feldman D, Danner-Boucher I, Rhun AL, Guyomarch B, Ravilly S, et al. Identifying the educational needs of lung transplant recipients with cystic fibrosis. Prog Transpl. 2015;25:18–25.10.7182/pit2015526
61. Gumuchian ST Peláez S Delisle VC Carrier M-E Jewett LR El-Baalbaki G Understanding coping strategies among people living with scleroderma: a focus group study Disabil Rehabil 2018 40 3012 21 10.1080/09638288.2017.1365954 28817964
Gumuchian ST, Peláez S, Delisle VC, Carrier M-E, Jewett LR, El-Baalbaki G, et al. Understanding coping strategies among people living with scleroderma: a focus group study. Disabil Rehabil. 2018;40:3012–21.28817964 10.1080/09638288.2017.1365954
62. Arya S Wilton P Page D Boma-Fischer L Floros G Winikoff R They don’t really take my bleeds seriously: barriers to care for women with inherited bleeding disorders J Thromb Haemost 2021 19 1506 14 10.1111/jth.15311 33774912
Arya S, Wilton P, Page D, Boma-Fischer L, Floros G, Winikoff R, et al. They don’t really take my bleeds seriously: barriers to care for women with inherited bleeding disorders. J Thromb Haemost. 2021;19:1506–14.33774912 10.1111/jth.15311
63. Kurtz NS Cote C Heatwole C Gagnon C Youssof S Patient-reported disease burden in oculopharyngeal muscular dystrophy Muscle Nerve 2019 60 724 31 10.1002/mus.26712 31531865
Kurtz NS, Cote C, Heatwole C, Gagnon C, Youssof S. Patient-reported disease burden in oculopharyngeal muscular dystrophy. Muscle Nerve. 2019;60:724–31.31531865 10.1002/mus.26712
64. Pakhale S Baron J Armstrong M Tasca G Gaudet E Aaron SD Lost in translation? How adults living with cystic fibrosis understand treatment recommendations from their healthcare providers, and the impact on adherence to therapy Patient Educ Couns 2016 99 1319 24 10.1016/j.pec.2016.03.023 27036082
Pakhale S, Baron J, Armstrong M, Tasca G, Gaudet E, Aaron SD, et al. Lost in translation? How adults living with cystic fibrosis understand treatment recommendations from their healthcare providers, and the impact on adherence to therapy. Patient Educ Couns. 2016;99:1319–24.27036082 10.1016/j.pec.2016.03.023
65. Shepherd LM Tahrani AA Inman C Arlt W Carrick-Sen DM Exploration of knowledge and understanding in patients with primary adrenal insufficiency: a mixed methods study BMC Endocr Disord 2017 17 47 10.1186/s12902-017-0196-0 28764794
Shepherd LM, Tahrani AA, Inman C, Arlt W, Carrick-Sen DM. Exploration of knowledge and understanding in patients with primary adrenal insufficiency: a mixed methods study. BMC Endocr Disord. 2017;17:47.28764794 10.1186/s12902-017-0196-0
66. Arran N Craufurd D Simpson J Illness perceptions, coping styles and psychological distress in adults with Huntington’s disease Psychol Health Med 2014 19 169 79 10.1080/13548506.2013.802355 23767964
Arran N, Craufurd D, Simpson J. Illness perceptions, coping styles and psychological distress in adults with Huntington’s disease. Psychol Health Med. 2014;19:169–79.23767964 10.1080/13548506.2013.802355
67. Dellon EP Helms SW Hailey CE Shay R Carney SD Schmidt HJ Exploring knowledge and perceptions of palliative care to inform integration of palliative care education into cystic fibrosis care Pediatr Pulmonol 2018 53 1218 24 10.1002/ppul.24073 29862668
Dellon EP, Helms SW, Hailey CE, Shay R, Carney SD, Schmidt HJ, et al. Exploring knowledge and perceptions of palliative care to inform integration of palliative care education into cystic fibrosis care. Pediatr Pulmonol. 2018;53:1218–24.29862668 10.1002/ppul.24073
68. Shoshan L Ben-Zvi D Meyer S Katz-Leurer M Sexuality in relation to independence in daily functions among young people with spina bifida living in Israel Rehabil Nurs 2012 37 11 7 10.1002/RNJ.00002 22271216
Shoshan L, Ben-Zvi D, Meyer S, Katz-Leurer M. Sexuality in relation to independence in daily functions among young people with spina bifida living in Israel. Rehabil Nurs. 2012;37:11–7. quiz 17–8.22271216 10.1002/RNJ.00002
69. Walsh MB Charen K Shubeck L McConkie-Rosell A Ali N Bellcross C Men with an FMR1 premutation and their health education needs J Genet Couns 2021 30 1156 67 10.1002/jgc4.1399 33788978
Walsh MB, Charen K, Shubeck L, McConkie-Rosell A, Ali N, Bellcross C, et al. Men with an FMR1 premutation and their health education needs. J Genet Couns. 2021;30:1156–67.33788978 10.1002/jgc4.1399
70. Sylvain C Lamothe L Berthiaume Y Rabasa-Lhoret R How patients’ representations of cystic fibrosis-related diabetes inform their health behaviours Psychol Health 2016 31 1129 44 10.1080/08870446.2016.1183008 27112101
Sylvain C, Lamothe L, Berthiaume Y, Rabasa-Lhoret R. How patients’ representations of cystic fibrosis-related diabetes inform their health behaviours. Psychol Health. 2016;31:1129–44.27112101 10.1080/08870446.2016.1183008
71. Arnold E Lane S Webert KE Chan A Walker I Tufts J What should men living with haemophilia need to know? The perspectives of Canadian men with haemophilia Haemophilia 2014 20 219 25 10.1111/hae.12297 24252098
Arnold E, Lane S, Webert KE, Chan A, Walker I, Tufts J, et al. What should men living with haemophilia need to know? The perspectives of Canadian men with haemophilia. Haemophilia. 2014;20:219–25.24252098 10.1111/hae.12297
72. Torres-Ortuño A, Cuesta-Barriuso R, Nieto-Munuera J, Galindo-Piñana P, López-Pina J-A. The behaviour and perception of illness: modulating variables of adherence in patients with haemophilia. Vox Sang [Internet]. 2018; 10.1111/vox.12669
73. Keyte R Egan H Nash EF Regan A Jackson C Mantzios M An exploration into experiences and attitudes regarding risky health behaviours in an adult cystic fibrosis population Psychol Health Med 2020 25 1013 9 10.1080/13548506.2019.1706750 31870175
Keyte R, Egan H, Nash EF, Regan A, Jackson C, Mantzios M. An exploration into experiences and attitudes regarding risky health behaviours in an adult cystic fibrosis population. Psychol Health Med. 2020;25:1013–9.31870175 10.1080/13548506.2019.1706750
74. Carpenter DM DeVellis RF Hogan SL Fisher EB DeVellis BM Jordan JM Use and perceived credibility of medication information sources for patients with a rare illness: differences by gender J Health Commun 2011 16 629 42 10.1080/10810730.2011.551995 21476166
Carpenter DM, DeVellis RF, Hogan SL, Fisher EB, DeVellis BM, Jordan JM. Use and perceived credibility of medication information sources for patients with a rare illness: differences by gender. J Health Commun. 2011;16:629–42.21476166 10.1080/10810730.2011.551995
75. Dwyer AA Quinton R Morin D Pitteloud N Identifying the unmet health needs of patients with congenital hypogonadotropic hypogonadism using a web-based needs assessment: implications for online interventions and peer-to-peer support Orphanet J Rare Dis 2014 9 83 10.1186/1750-1172-9-83 24915927
Dwyer AA, Quinton R, Morin D, Pitteloud N. Identifying the unmet health needs of patients with congenital hypogonadotropic hypogonadism using a web-based needs assessment: implications for online interventions and peer-to-peer support. Orphanet J Rare Dis. 2014;9:83.24915927 10.1186/1750-1172-9-83
76. Litzkendorf S Frank M Babac A Rosenfeldt D Schauer F Hartz T Use and importance of different information sources among patients with rare diseases and their relatives over time: a qualitative study BMC Public Health 2020 20 860 10.1186/s12889-020-08926-9 32503483
Litzkendorf S, Frank M, Babac A, Rosenfeldt D, Schauer F, Hartz T, et al. Use and importance of different information sources among patients with rare diseases and their relatives over time: a qualitative study. BMC Public Health. 2020;20:860.32503483 10.1186/s12889-020-08926-9
77. Molster C Urwin D Di Pietro L Fookes M Petrie D van der Laan S Survey of healthcare experiences of Australian adults living with rare diseases Orphanet J Rare Dis 2016 11 30 10.1186/s13023-016-0409-z 27012247
Molster C, Urwin D, Di Pietro L, Fookes M, Petrie D, van der Laan S, et al. Survey of healthcare experiences of Australian adults living with rare diseases. Orphanet J Rare Dis. 2016;11:30.27012247 10.1186/s13023-016-0409-z
78. Lindsay S Fellin M Cruickshank H McPherson A Maxwell J Youth and parents’ experiences of a new inter-agency transition model for spina bifida compared to youth who did not take part in the model Disabil Health J 2016 9 705 12 10.1016/j.dhjo.2016.05.009 27346055
Lindsay S, Fellin M, Cruickshank H, McPherson A, Maxwell J. Youth and parents’ experiences of a new inter-agency transition model for spina bifida compared to youth who did not take part in the model. Disabil Health J. 2016;9:705–12.27346055 10.1016/j.dhjo.2016.05.009
79. Skirton H Williams JK Jackson Barnette J Paulsen JS Huntington disease: families’ experiences of healthcare services J Adv Nurs 2010 66 500 10 10.1111/j.1365-2648.2009.05217.x 20423385
Skirton H, Williams JK, Jackson Barnette J, Paulsen JS. Huntington disease: families’ experiences of healthcare services. J Adv Nurs. 2010;66:500–10.20423385 10.1111/j.1365-2648.2009.05217.x
80. Domaradzki J Family caregivers’ experiences with healthcare services–a case of Huntington’s disease Psychiatr Pol 2016 50 375 91 10.12740/PP/59103 27288682
Domaradzki J. Family caregivers’ experiences with healthcare services–a case of Huntington’s disease. Psychiatr Pol. 2016;50:375–91.27288682 10.12740/PP/59103
81. Katavic SS, Tanackovic SF, Badurina B. Illness perception and information behaviour of patients with rare chronic diseases. Inflamm Res [Internet]. 2016 [cited 2023 Jun 14];21. 10.1111/hir.12261
82. Socha Hernandez AV Deeks LS Shield AJ Understanding medication safety and Charcot-Marie-tooth disease: a patient perspective Int J Clin Pharm 2020 42 1507 14 10.1007/s11096-020-01123-z 32804316
Socha Hernandez AV, Deeks LS, Shield AJ. Understanding medication safety and Charcot-Marie-tooth disease: a patient perspective. Int J Clin Pharm. 2020;42:1507–14.32804316 10.1007/s11096-020-01123-z
83. Akanuwe JNA Laparidou D Curtis F Jackson J Hodgson TL Siriwardena AN Exploring the experiences of having Guillain-Barré syndrome: a qualitative interview study Health Expect 2020 23 1338 49 10.1111/hex.13116 32748526
Akanuwe JNA, Laparidou D, Curtis F, Jackson J, Hodgson TL, Siriwardena AN. Exploring the experiences of having Guillain-Barré syndrome: a qualitative interview study. Health Expect. 2020;23:1338–49.32748526 10.1111/hex.13116
84. Foley G Timonen V Hardiman O Understanding psycho-social processes underpinning engagement with services in motor neurone disease: a qualitative study Palliat Med 2014 28 318 25 10.1177/0269216313512013 24637571
Foley G, Timonen V, Hardiman O. Understanding psycho-social processes underpinning engagement with services in motor neurone disease: a qualitative study. Palliat Med. 2014;28:318–25.24637571 10.1177/0269216313512013
85. Borghi L Moreschi C Toscano A Comber P Vegni E The PKU ME study: a qualitative exploration, through co-creative sessions, of attitudes and experience of the disease among adults with phenylketonuria in Italy Mol Genet Metabolism Rep 2020 23 100585
Borghi L, Moreschi C, Toscano A, Comber P, Vegni E, The PKU. ME study: a qualitative exploration, through co-creative sessions, of attitudes and experience of the disease among adults with phenylketonuria in Italy. Mol Genet Metabolism Rep. 2020;23:100585.
86. Kazmerski TM Gmelin T Slocum B Borrero S Miller E Attitudes and decision making related to pregnancy among Young women with cystic fibrosis Matern Child Health J 2017 21 818 24 10.1007/s10995-016-2181-z 27531009
Kazmerski TM, Gmelin T, Slocum B, Borrero S, Miller E. Attitudes and decision making related to pregnancy among Young women with cystic fibrosis. Matern Child Health J. 2017;21:818–24.27531009 10.1007/s10995-016-2181-z
87. Flewelling KD Sellers DE Sawicki GS Robinson WM Dill EJ Social support is associated with fewer reported symptoms and decreased treatment burden in adults with cystic fibrosis J Cyst Fibros 2019 18 572 6 10.1016/j.jcf.2019.01.013 30772245
Flewelling KD, Sellers DE, Sawicki GS, Robinson WM, Dill EJ. Social support is associated with fewer reported symptoms and decreased treatment burden in adults with cystic fibrosis. J Cyst Fibros. 2019;18:572–6.30772245 10.1016/j.jcf.2019.01.013
88. Kirk S Milnes L An exploration of how young people and parents use online support in the context of living with cystic fibrosis Health Expect 2016 19 309 21 10.1111/hex.12352 25691209
Kirk S, Milnes L. An exploration of how young people and parents use online support in the context of living with cystic fibrosis. Health Expect. 2016;19:309–21.25691209 10.1111/hex.12352
89. Salvatore V Gilstrap A Williams KR Thorat S Stevenson M Gwosdow AR Evaluating the impact of peer support and connection on the quality of life of patients with familial chylomicronemia syndrome Expert Opin Orphan Drugs 2018 6 497 505 10.1080/21678707.2018.1505495
Salvatore V, Gilstrap A, Williams KR, Thorat S, Stevenson M, Gwosdow AR, et al. Evaluating the impact of peer support and connection on the quality of life of patients with familial chylomicronemia syndrome. Expert Opin Orphan Drugs. 2018;6:497–505.10.1080/21678707.2018.1505495
90. López-Bastida J Oliva-Moreno J Linertová R Serrano-Aguilar P Social/economic costs and health-related quality of life in patients with rare diseases in Europe Eur J Health Economics: HEPAC: Health Econ Prev care 2016 17 Suppl 1 1 5 10.1007/s10198-016-0780-7
López-Bastida J, Oliva-Moreno J, Linertová R, Serrano-Aguilar P. Social/economic costs and health-related quality of life in patients with rare diseases in Europe. Eur J Health Economics: HEPAC: Health Econ Prev care. 2016;17(Suppl 1):1–5.10.1007/s10198-016-0780-7
91. Sørensen K, Van den Broucke S, Pelikan JM, Fullam J, Doyle G, Slonska Z et al. Measuring health literacy in populations: illuminating the design and development process of the European Health Literacy Survey Questionnaire (HLS-EU-Q). BMC Public Health [Internet]. 2013;13. 10.1186/1471-2458-13-948
92. Berkman ND Sheridan SL Donahue KE Halpern DJ Crotty K Low health literacy and health outcomes: an updated systematic review Ann Intern Med 2011 155 97 107 10.7326/0003-4819-155-2-201107190-00005 21768583
Berkman ND, Sheridan SL, Donahue KE, Halpern DJ, Crotty K. Low health literacy and health outcomes: an updated systematic review. Ann Intern Med. 2011;155:97–107.21768583 10.7326/0003-4819-155-2-201107190-00005
93. Geboers B Reijneveld SA Jansen CJM de Winter AF Health Literacy Is Associated With Health Behaviors and Social factors among older adults: results from the LifeLines Cohort Study J Health Commun 2016 21 45 53 10.1080/10810730.2016.1201174 27661472
Geboers B, Reijneveld SA, Jansen CJM, de Winter AF. Health Literacy Is Associated With Health Behaviors and Social factors among older adults: results from the LifeLines Cohort Study. J Health Commun. 2016;21:45–53.27661472 10.1080/10810730.2016.1201174
94. Mackey LM Doody C Werner EL Fullen B Self-management skills in Chronic Disease Management: what role does health literacy have? Med Decis Mak 2016 36 741 59 10.1177/0272989X16638330
Mackey LM, Doody C, Werner EL, Fullen B. Self-management skills in Chronic Disease Management: what role does health literacy have? Med Decis Mak. 2016;36:741–59.10.1177/0272989X16638330
95. Paasche-Orlow MK Wolf MS The causal pathways linking health literacy to health outcomes Am J Health Behav 2007 31 19 26 10.5993/AJHB.31.s1.4
Paasche-Orlow MK, Wolf MS. The causal pathways linking health literacy to health outcomes. Am J Health Behav. 2007;31:19–26.10.5993/AJHB.31.s1.4
96. de Vrueh R de Baekelandt Erf JMH Background paper 6.19. Rare diseases 2013 Geneva World Health Organization
de Vrueh R, de Baekelandt Erf JMH. Background paper 6.19. Rare diseases. Geneva: World Health Organization; 2013.
97. Uhlenbusch N Löwe B Härter M Schramm C Weiler-Normann C Depping MK Depression and anxiety in patients with different rare chronic diseases: a cross-sectional study PLoS ONE 2019 14 e0211343 10.1371/journal.pone.0211343 30785907
Uhlenbusch N, Löwe B, Härter M, Schramm C, Weiler-Normann C, Depping MK. Depression and anxiety in patients with different rare chronic diseases: a cross-sectional study. PLoS ONE. 2019;14:e0211343.30785907 10.1371/journal.pone.0211343
