Abstract
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.
Highlights
The 22q11.2 deletion syndrome (22q11.2 DS) is a chromosomal disorder (1:1000 births reported)
Our findings indicate that the Internet, social media and support groups are instrumental in the building of this knowledge base
Social media and online support have changed parents’ experiences and have helped connections to be made in situations that might otherwise lead to isolation
Summary
The 22q11.2 deletion syndrome (22q11.2 DS) is a chromosomal disorder (1:1000 births reported). Some researchers suggest that the syndrome is clinically under-recognised (McDonald-McGinn 2013, Shprintzen 2008, Oskarsdottir 2004) because variability is a major obstacle for diagnosis and long-term management. In an extensive review, Pelentsov et al (2016) suggested that the care needs of families affected by rare diseases in general are not met by health care professionals. The main areas identified the range from emotional and psychological needs to practical and social needs. These shortfalls in the provision of support to families have been reiterated by Rare Disease UK in their recent documentation (Limb and Nutt 2011)
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