Use and importance of different information sources among patients with rare diseases and their relatives over time: a qualitative study.

BACKGROUND: Finding reliable information on one of more than 7000 rare diseases is a major challenge for those affected. Since rare diseases are defined only by the prevalence criterion, a multitude of heterogeneous diseases are included. Common to all, however, are difficulties regarding information access. Even though various quantitative studies have analyzed the use of different information sources for specific rare diseases, little is known about the use of information sources for different rare diseases, how users rate these information sources based on their experiences, and how the use and importance of these information sources change over time. METHODS: Fifty-five patients with a variety of rare diseases and 13 close relatives participated in qualitative interviews. For these interviews, a semi-structured guideline was developed, piloted, and revised. Data analysis involved a qualitative content analysis developed by Philipp Mayring. RESULTS: The participants considered internet as the most important and widespread information source, especially for early information. Although patients have difficulty dealing with information obtained online, they consider online searching a quick and practical option to gather information. During the course of the disease, personal contact partners, especially self-help associations and specialized doctors, become more important. This is also because information provided online is sometimes insufficiently detailed to answer their information needs, which can be complemented by information from doctors and self-help. CONCLUSIONS: People rarely use just one type of source, but rather refer to different sources and informants. The source used depends on the type of information sought as well as other person-related factors such as preexisting knowledge and the disease stage. To improve people's information searching and connect them with medical specialists in rare diseases, a central information portal on rare diseases might be a suitable access point to provide free and quality assured information for patients, caregivers, and physicians. This would allow not only patients but also doctors to find quality assured information on symptoms and therapies as well as patient associations and specialized doctors.

Telephone health services in the field of rare diseases: a qualitative interview study examining the needs of patients, relatives, and health care professionals in Germany.

BACKGROUND: Rare diseases are, by definition, very serious and chronic diseases with a high negative impact on quality of life. Approximately 350 million people worldwide live with rare diseases. The resulting high disease burden triggers health information search, but helpful, high-quality, and up-to-date information is often hard to find. Therefore, the improvement of health information provision has been integrated in many national plans for rare diseases, discussing the telephone as one access option. In this context, this study examines the need for a telephone service offering information for people affected by rare diseases, their relatives, and physicians. METHODS: In total, 107 individuals participated in a qualitative interview study conducted in Germany. Sixty-eight individuals suffering from a rare disease or related to somebody with rare diseases and 39 health care professionals took part. Individual interviews were conducted using a standardized semi-structured questionnaire. Interviews were analysed using the qualitative content analysis, triangulating patients, relatives, and health care professionals. The fulfilment of qualitative data processing standards has been controlled for. RESULTS: Out of 68 patients and relatives and 39 physicians, 52 and 18, respectively, advocated for the establishment of a rare diseases telephone service. Interviewees expected a helpline to include expert staffing, personal contact, good availability, low technical barriers, medical and psychosocial topics of counselling, guidance in reducing information chaos, and referrals. Health care professionals highlighted the importance of medical topics of counselling-in particular, differential diagnostics-and referrals. CONCLUSIONS: Therefore, the need for a national rare diseases helpline was confirmed in this study. Due to limited financial resources, existing offers should be adapted in a stepwise procedure in accordance with the identified attributes.

[Criteria catalogue to systematize conceptual approaches in universal prevention of childhood overweight : Methodological approach and first results]. / Kriterienkatalog zur Systematisierung konzeptioneller Ansätze in der universellen Prävention von Kinderübergewicht : Methodische Vorgehensweise und erste Ergebnisse.

BACKGROUND: Overweight and obesity are serious health risks for children and adolescents. Hence, various prevention projects have been initiated and implemented. Until now, a systematic overview of interventions in different settings has been lacking. AIM(S)/RESEARCH QUESTION: The aim of the "Prevention of child overweight" project (SkAP-project) is to prepare a systematic overview of the conceptual approaches used in universal prevention of overweight among children and adolescents. First of all, a comprehensive criteria catalogue will be developed based on systematic searches. In the next step the criteria catalogue will be applied to identify and characterize conceptual approaches. DATA AND METHODS: Criteria to describe conceptual approaches as well as determinants of childhood overweight were determined by systematic searches. The searches included relevant data bases and were further expanded by internet and hand search. Three settings (kindergarten, school and communities) and families are addressed by the systematic searches. Additional non-setting specific searches were conducted. RESULTS: A comprehensive criteria catalogue was developed, which allows a detailed analysis of conceptual approaches. This catalogue covers further quality criteria as well as determinants of childhood overweight. DISCUSSION: Currently, the criteria catalogue is being employed. Although the detailed analysis of conceptual approaches can be regarded as advantage of the criteria catalogue, there are also some limitations, such as the lack of necessary information provided in publications. Overall, the application will reveal an overview regarding universal prevention in childhood overweight, which is still lacking, and will support development in this field.