Rizzo Roberta, Van den Bree Marianne, Challenger Aimee, Cuthbert Andrew, Ayllon Michael Arribas, Clarke Angus, Thompson Rose
Cardiff University, Cardiff, UK.
The McPin Foundation, London, UK.
J Community Genet. 2020 Jan;11(1):101-111. doi: 10.1007/s12687-019-00425-8. Epub 2019 May 25.
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.
22q11.2 缺失综合征的特点是具有变异性、罕见性以及从先天性心脏病到精神和行为问题等各种各样的特征。因此，其健康信息寻求行为不同于其他更常见的病症。开展了一项探索性研究，以了解家长如何获取信息和支持，以及这些信息是如何共享的。对家庭和支持小组代表进行了定性访谈，并应用了主题分析。我们的研究结果出现了四个主要主题：对临床专业知识的认知、家长赋权、支持小组活动以及通过互联网平台进行社区建设。我们的主题分析促成了一个针对 22q11.2 缺失综合征患儿家长和照料者信息寻求行为的可能模型。我们讨论了该模型以及对信息共享和收集方式的理解如何有助于临床实践。
