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

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 informationseeking 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.

Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels

“…As 22q11.2 microdeletions have different expressivity, each patient requires an individualised, multidisciplinary and coordinated care plan. This kind of solution has already been introduced in Canada, where there is a special hospital unit dedicated to 22q11.2DS patients [ 106 ].These kind of centres or programs in hospitals are also provided in a few states in the USA. In Europe there are clinics which do not have special programmes but offer their service on the site The International 22q11.2 Foundation [ 107 ].…”

The experiences of families receiving a diagnosis of 22q11.2 deletion syndrome in Ireland

“…Parents' dissatisfaction with HCPs' levels of knowledge and support may direct them to find other sources of information (Alugo et al, 2017;Cuthbert et al, 2019;Vandeborne et al, 2019), which are more meaningful to them, such as support groups and online forums (Rizzo et al, 2020). This suggests that HCPs are not providing enough psychological support to families receiving a diagnosis of 22q11DS and suggests that more input from GCs at the stage of diagnosis would be welcomed (Rizzo et al, 2020). Furthermore, the 22q11DS phenotype is highly variable from person to person (Campbell et al, 2018), even between members of the same family.…”

“…Parents of children with 22q11DS from Ireland have reported feelings of frustration due to a lack of support and information received from HCPs (Alugo et al, 2017), which echoes recurring themes reported in the wider rare disease community. Parents' dissatisfaction with HCPs' levels of knowledge and support may direct them to find other sources of information (Alugo et al, 2017; Cuthbert et al, 2019; Vandeborne et al, 2019), which are more meaningful to them, such as support groups and online forums (Rizzo et al, 2020). This suggests that HCPs are not providing enough psychological support to families receiving a diagnosis of 22q11DS and suggests that more input from GCs at the stage of diagnosis would be welcomed (Rizzo et al, 2020).…”

“…As GC training is rooted in Rogerian‐based counseling theory and other theories such as Family Systems theory (Bowen, 1978), GCs are likely to be well‐placed to provide psychosocial support to families receiving diagnoses of 22q11DS (Austin et al, 2014; Rizzo et al, 2020) and other rare conditions. Acceptance and coping with uncertainty can be exceptionally difficult for parents dealing with a new diagnosis of 22q11DS in the family (Broley, 2013).…”

“…It has been recommended that GCs communicate the risks of psychiatric conditions to families (Reilly et al, 2015) and has been reported by GCs themselves that it is preferable to disclose information regarding the psychiatric risks to parents (Martin et al, 2012). Not disclosing the mental health (MH) risks associated with 22q11DS by HCPs is likely to be unhelpful as multiple studies have reported that parents find this information from online sources, rather than from HCPs (Cuthbert et al, 2019; Hercher & Bruenner, 2008; Rizzo et al, 2020), which could potentially be upsetting for parents.…”