Rare Diseases on the Internet: An Assessment of the Quality of Online Information

Pauer, Frédéric; Litzkendorf, Svenja; Göbel, Jens; Storf, Holger; Zeidler, Jan; Schulenburg, J-Matthias Graf von der

doi:10.2196/jmir.7056

Cited by 50 publications

(53 citation statements)

References 22 publications

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“…; Pauer et al. ), and often includes little information about psychosocial adjustment and counseling (Pauer et al. ).…”

Section: Discussionmentioning

confidence: 99%

“…), and often includes little information about psychosocial adjustment and counseling (Pauer et al. ). On the other hand, support groups found on the Internet may provide valuable information for patients with rare diagnoses and their relatives (Pauer et al.…”

Section: Discussionmentioning

confidence: 99%

“…On the other hand, support groups found on the Internet may provide valuable information for patients with rare diagnoses and their relatives (Pauer et al. ), and provide a possibility to share similar experiences and challenges (Newman et al. ).…”

Section: Discussionmentioning

confidence: 99%

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Living with a rare disorder: a systematic review of the qualitative literature

Lippe

Diesen

Feragen

2017

Molec Gen & Gen Med

215

223

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BackgroundIndividuals with rare diseases may face challenges that are different from those experienced in more common medical conditions. A wide range of different rare conditions has resulted in a myriad of studies investigating the specificities of the diagnosis in focus. The shared psychological experiences of individuals with a rare condition, however, have not been reviewed systematically.MethodsWe performed a systematic review, including qualitative studies on adults, published between 2000 and 2016. Papers including more than one rare genetic or nongenetic diagnosis were included. Studies based on single diagnoses were excluded except for four specific conditions: hemophilia (bleeding disorder), phenylketonuria (metabolic disorder), Fabry disease (lysosomal storage disorder), and epidermolysis bullosa (skin disorder).ResultsThe review identified 21 studies. Findings were synthesized and categorized according to three main themes: (1) Consequences of living with a rare disorder, (2) Social aspects of living with a rare disorder, and (3) Experiences with the health care system. Findings point to several unique challenges, such as the psychological, medical, and social consequences of a lack of knowledge about the condition in health care and social settings.ConclusionThe findings highlight the need for more research on the shared psychological and social impact of living with a rare diagnosis across conditions, in order to identify risk factors and inform clinical practice.

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“…; Pauer et al. ), and often includes little information about psychosocial adjustment and counseling (Pauer et al. ).…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Living with a rare disorder: a systematic review of the qualitative literature

Lippe

Diesen

Feragen

2017

Molec Gen & Gen Med

215

223

View full text Add to dashboard Cite

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“…Pauer et al. () found that the quality of rare disease information on the Internet is low and that certain information categories are not sufficiently represented. On the other side, support groups proved to be extremely valuable sources of information.…”

Section: Introductionmentioning

confidence: 99%

Health information behaviour of rare disease patients: seeking, finding and sharing health information

Katavić

2019

Health Info Libraries J

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Background Rare disease patients find independent health information seeking necessary due to the general lack of knowledge on rare diseases and inadequate information provision by health care professionals. Objective The aim of this study is to describe distinctive aspects of health information behaviour of rare disease patients and specific challenges they face when seeking health information. Methods A qualitative research approach was employed including semi‐structured interviews that were analysed using thematic analysis. Fifteen respondents suffering from three different rare diseases participated in the study. Results Health information behaviour of rare disease patients is characterised by independent and continuous health information seeking and sharing. Connecting with other patients and getting realistic insight into the condition after diagnosis, advice for everyday life, comfort and hope and confirmation that their symptoms are ‘normal’ are of particular importance. Lack of specific advice for daily life, inaccessible new knowledge, lack of information about drugs and encountering severe health information are common challenges patients face due to insufficient support from health care professionals. Conclusion Health information seeking and sharing are important aspects of rare disease patients’ everyday life. Challenges they face could be overcome in cooperation with patient support groups, health care professionals and health information professionals.

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“…Furthermore, the demand for freely accessible information is high. This is shown by the large number of websites on the Internet run by patients’ organizations [24]. Therefore, databases like ROMSE should be available as a source of information for patients and their relatives.…”

Section: Discussionmentioning

confidence: 99%

Orthodontically Relevant Manifestations in People with Rare Diseases

Hanisch

Kleinheinz

et al. 2019

Med Princ Pract

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Background: Approximately 15% of all rare diseases occur with orofacial manifestations. Symptoms and manifestations of relevance to orthodontists represent a considerable proportion of these diseases and require appropriate strategies for their treatment. This article provides an overview of the orthodontically relevant manifestations of rare diseases. Material and Methods: Overall, 3,639 rare diseases listed at the Orphanet, OMIM or Pubmed database were evaluated for orofacial manifestations. All rare diseases which were indicated with at least one orofacial manifestation were recorded in a database for rare diseases with orofacial manifestations called “ROMSE,” which was developed by the authors. All the rare diseases were analysed with regard to orthodontically relevant orofacial manifestations, such as dysgnathia, changes in the number of teeth, failures of eruption, pathologies of bone metabolism or orofacial clefts. For all rare diseases with orthodontic relevance, an exact analysis was undertaken. Results: The orthodontically relevant orofacial manifestation termed dysgnathia is described in 151 of 535 identified rare diseases (28.2%). In these 151 rare diseases, 15 different subforms of dysgnathia, in the sense of skeletal misdevelopments of the jaws but without dental abnormalities, were described. Also changes in the number of teeth (17.9%), orofacial clefts (27.6%), failures of eruption (8.4%) and pathologies of the bone (2.1%) were described. Conclusions: Orthodontics play an important role in the diagnosis and treatment of orofacial manifestations in rare diseases. Databases such as ROMSE are a first step toward providing valid information in publicly accessible databases.

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Rare Diseases on the Internet: An Assessment of the Quality of Online Information

Cited by 50 publications

References 22 publications

Living with a rare disorder: a systematic review of the qualitative literature

Living with a rare disorder: a systematic review of the qualitative literature

Health information behaviour of rare disease patients: seeking, finding and sharing health information

Orthodontically Relevant Manifestations in People with Rare Diseases

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