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Co-creating a knowledge base in the “22q11.2 deletion syndrome” community

Rizzo, Roberta, Van Den Bree, Marianne ORCID:, Challenger, Aimee, Cuthbert, Andrew, Arribas-Ayllon, M. ORCID:, Clarke, Angus ORCID: and Thompson, Rose ORCID: 2020. Co-creating a knowledge base in the “22q11.2 deletion syndrome” community. Journal of Community Genetics 11 (1) , pp. 101-111. 10.1007/s12687-019-00425-8

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22q11.2 DS is characterised by its variability, rarity and variety of features ranging from congenital heart conditions to psychiatric and behavioural issues. As a result, health information–seeking behaviour is different from other more common conditions. An exploratory study was carried out to understand how parents access information and support, and how that information is shared. Qualitative interviews were carried out with families and support group representatives, and thematic analysis was applied. Four main themes emerged from our findings: perceptions of clinical expertise, parent empowerment, support group activities and community building via an Internet platform. Our thematic analysis enabled the construction of a possible model of information-seeking behaviour in parents and carers of children with 22q11.2 DS. We discuss the model and how the understanding of how information is shared and gathered can aid in clinical practice.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Social Sciences (Includes Criminology and Education)
Publisher: Springer
ISSN: 1868-310X
Date of First Compliant Deposit: 28 May 2019
Date of Acceptance: 9 May 2019
Last Modified: 06 Jan 2024 04:22

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