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      Common needs in uncommon conditions: a qualitative study to explore the need for care in pediatric patients with rare diseases

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          Abstract

          Background

          Challenges faced by children diagnosed with a rare disease or complex condition and their family members are often characterized by disease-specific complexities, such as a prolonged diagnostic process, an uncertain prognosis, and the absence of curative treatment. The psychological burden of living with a rare disease or complex condition is often understudied and may present overarching concepts that shape the general experience of having been diagnosed with a rare condition. The present study examines common needs from a comprehensive perspective combining relevant aspects from the rare disease literature in a theoretical perspective from pediatric psychology, such as a family-centred, developmental and interdisciplinary approach. An exploratory study was designed among parents from children with a rare disease or complex condition in an Integrated University Children’s Hospital in the Netherlands. Semi-structured interviews were conducted with open-ended questions based around the experience of having a child diagnosed with a rare condition, such as the psychosocial impact on the child and it’s development, the impact on the family, and how provided care was experienced.

          Results

          Twelve interviews were analysed with a thematic content analysis to identify common needs. Eight themes followed from the analysis and uncovered the need for (1) family-focused care, (2) coping with uncertainty, (3) empathic communication, (4) practical support, (5) information, (6) psychological support, (7) interdisciplinary care, and (8) social support.

          Conclusions

          The results from our study provide directions for research and health care to support young patients with a rare disease or complex condition and their families. Moreover, our results demonstrated that there are overarching concepts across different rare diseases that may be optimally supported with interdisciplinary care.

          Supplementary Information

          The online version contains supplementary material available at 10.1186/s13023-022-02305-w.

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          Most cited references29

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          Content analysis and thematic analysis: Implications for conducting a qualitative descriptive study.

          Qualitative content analysis and thematic analysis are two commonly used approaches in data analysis of nursing research, but boundaries between the two have not been clearly specified. In other words, they are being used interchangeably and it seems difficult for the researcher to choose between them. In this respect, this paper describes and discusses the boundaries between qualitative content analysis and thematic analysis and presents implications to improve the consistency between the purpose of related studies and the method of data analyses. This is a discussion paper, comprising an analytical overview and discussion of the definitions, aims, philosophical background, data gathering, and analysis of content analysis and thematic analysis, and addressing their methodological subtleties. It is concluded that in spite of many similarities between the approaches, including cutting across data and searching for patterns and themes, their main difference lies in the opportunity for quantification of data. It means that measuring the frequency of different categories and themes is possible in content analysis with caution as a proxy for significance. © 2013 Wiley Publishing Asia Pty Ltd.
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            Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

            Rare diseases, an emerging global public health priority, require an evidence-based estimate of the global point prevalence to inform public policy. We used the publicly available epidemiological data in the Orphanet database to calculate such a prevalence estimate. Overall, Orphanet contains information on 6172 unique rare diseases; 71.9% of which are genetic and 69.9% which are exclusively pediatric onset. Global point prevalence was calculated using rare disease prevalence data for predefined geographic regions from the ‘Orphanet Epidemiological file’ (http://www.orphadata.org/cgi-bin/epidemio.html). Of the 5304 diseases defined by point prevalence, 84.5% of those analysed have a point prevalence of <1/1 000 000. However 77.3–80.7% of the population burden of rare diseases is attributable to the 4.2% (n = 149) diseases in the most common prevalence range (1–5 per 10 000). Consequently national definitions of ‘Rare Diseases’ (ranging from prevalence of 5 to 80 per 100 000) represent a variable number of rare disease patients despite sharing the majority of rare disease in their scope. Our analysis yields a conservative, evidence-based estimate for the population prevalence of rare diseases of 3.5–5.9%, which equates to 263–446 million persons affected globally at any point in time. This figure is derived from data from 67.6% of the prevalent rare diseases; using the European definition of 5 per 10 000; and excluding rare cancers, infectious diseases, and poisonings. Future registry research and the implementation of rare disease codification in healthcare systems will further refine the estimates.
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              Varieties of Uncertainty in Health Care

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                Author and article information

                Contributors
                rosanne.smits@radboudumc.nl
                eline.vissers@radboudumc.nl
                rosan.tepas@radboudumc.nl
                noor.roebbers@radboudumc.nl
                wout.feitz@radboudumc.nl
                iris.vanrooij@radboudumc.nl
                ivo.deblaauw@kchir.umcn.nl
                chris.verhaak@radboudumc.nl
                Journal
                Orphanet J Rare Dis
                Orphanet J Rare Dis
                Orphanet Journal of Rare Diseases
                BioMed Central (London )
                1750-1172
                4 April 2022
                4 April 2022
                2022
                : 17
                : 153
                Affiliations
                [1 ]GRID grid.10417.33, ISNI 0000 0004 0444 9382, Department of Medical Psychology, Amalia Children’s Hospital, , Radboud University Medical Center, ; PO 9101, 6500 HB Nijmegen, The Netherlands
                [2 ]GRID grid.461578.9, Division of Pediatric Urology, Department of Urology, , Radboudumc Amalia Children’s Hospital, ; Nijmegen, The Netherlands
                [3 ]GRID grid.10417.33, ISNI 0000 0004 0444 9382, Department for Health Evidence, , Radboud University Medical Center, ; Nijmegen, The Netherlands
                [4 ]GRID grid.10417.33, ISNI 0000 0004 0444 9382, Department of Pediatric Surgery, Amalia Children’s Hospital, , Radboud University Medical Center, ; Nijmegen, The Netherlands
                Author information
                http://orcid.org/0000-0003-2682-2654
                Article
                2305
                10.1186/s13023-022-02305-w
                8981675
                35379257
                7d1fa301-af19-4e11-847d-aa35f9ecd733
                © The Author(s) 2022

                Open AccessThis 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.

                History
                : 24 December 2021
                : 23 March 2022
                Funding
                Funded by: FundRef http://dx.doi.org/10.13039/501100010763, Zorginstituut Nederland;
                Award ID: 2017045964
                Award Recipient :
                Categories
                Research
                Custom metadata
                © The Author(s) 2022

                Infectious disease & Microbiology
                rare disease,complex condition,psychological needs,caregiver burden,qualitative research,quality of life,hrqol

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