An exploration of the experiences of young people with 22q11.2 DS
Research type
Research Study
Full title
A grounded theory exploration of the experiences of children and young people who have a diagnosis of 22q11.2 deletion syndrome, examining the stressors and coping strategies of participants
IRAS ID
322657
Contact name
Ruth Garcia-Rodriguez
Contact email
Sponsor organisation
Salomons Institute of Applied Psychology, Canterbury Christ Church University
Duration of Study in the UK
1 years, 7 months, 30 days
Research summary
22q11.2 Deletion Syndrome is associated with the deletion of small amounts of genetic material at sites on Chromosome 22 (McDonald-McGinn and Sullivan, 2011). The syndrome is identified by the presence of various health complications, including physical anomalies of the heart and palate, and problems with the immune system. The syndrome also impacts on cognition and communication, with many affected individuals experiencing developmental delay and communication difficulties. Previous research has noted a higher prevalence of neuropsychiatric conditions in this group, with individuals at increased risk of experiencing anxiety, depression, attention-deficit-hyperactivity disorder, autism spectrum conditions and psychosis (Schneider et al., 2014; McDonald-McGinn et al., 2015).
Adverse childhood experiences are also known to increase the risk of individuals developing mental health conditions (Read et al., 2014). Children with 22q11.2 Deletion Syndrome face multiple life stressors linked to the syndrome. These include medical, cognitive and socioemotional challenges from infancy through to adulthood (Beaton and Simon, 2011). However, to date very few research studies have examined individuals’ experiences of living with the syndrome.
The aim of the study is to gain an understanding of stressors that may be unique to children and young people living with 22q11.2DS, as well as the coping strategies and strengths that have been developed.
The proposal is to interview approximately 15 young people between the ages of 10 and 15 using a grounded theory methodology. Interviews would take place on MSTeams, lasting no more than one hour. A key component of the grounded theory methodology is that interviews are analysed after taking place and the analyses is used to inform the development of questions for the next interview.
Individuals will primarily be identified through their attendance at the Great Ormond Street Hospital 22q11 clinic, but may also self-refer into the study via Max Appeal, a charitable 22q11.2 support organisation.
REC name
Wales REC 6
REC reference
23/WA/0189
Date of REC Opinion
26 Jun 2023
REC opinion
Favourable Opinion