22q11 deletion syndrome: Parents’ and children’s experiences of educational and healthcare provision in the United Kingdom

Abstract

Objective: 22q11DS is a genetic syndrome, prevalence around 1:4000-1:6000 livebirths, with a complex array of associated features, impacting on healthcare and educational support. This study reports the perceptions of families and individuals with 22q11DS in relation to these needs.Design: Individuals and families of those with 22q11DS were approached though two national charities the Max Appeal and 22Crew. An initial observational survey design was used to gather views via questions probing access to healthcare and educational experiences.Results: 34 responses were received and the data subjected to descriptive analysis. Over half of respondents were diagnosed before the age of 1. 91% reported ongoing difficulties with learning at school, compounded by school attendance being compromised as a result of medical interventions. Individuals reported engaging heavily with educational support and a high number of health professions (mean 9.5; mode 10). Conclusions:Age of diagnosis of 22q11Ds ranged from birth to 9 years. Families had ongoing concerns about aspects of education and healthcare services, and lack of knowledge and awareness of the difficulties faced by individuals with 22q11DS was raised.Healthcare and education providers should be aware of the range of services individuals required on a regular basis so as to provide a more holistic approach to care.

The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review

“…A common finding concerning the lack of empathy and knowledge around 22q11DS was reported amongst educators and health‐care professionals (Cohen et al, 2017; Goodwin & McCormack, 2017; Goodwin, McCormack, et al, 2017; Karas et al, 2014; Klingberg et al, 2010; Martin et al, 2012; Phillips et al, 2017), this exacerbated the frustration and left many parents feeling like they had to fight for the care and support that their child deserves (Cohen et al, 2017; Goodwin & Mccormack, 2017). As a result, many parents and caregivers expressed feeling hopeless and worried.…”

“…Across the included studies, many parents reported feelings of powerlessness and frustration as a result of having to wait years for a diagnosis for their child (Bales et al, 2010a; Cohen et al, 2017; Costain et al, 2012), which resulted in increased uncertainty about the child's future (Bales et al, 2010a; Cohen et al, 2017; Costain et al, 2012; Goodwin & Mccormack, 2017; Goodwin, McCormack, et al, 2017; Karas et al, 2014; Martin et al, 2012). They also described a sense of relief when a diagnosis was given, and perceived that early justification for the child's symptoms can help psychological and clinical aspects of the illness earlier on in life (Cohen et al, 2017; Costain et al, 2012; Goodwin, McCormack, et al, 2017; Martin et al, 2012). Parents have praised the health care they received: one mother spoke about a pediatrician making the right referral in the process of finding a diagnosis (Bales et al, 2010a); another spoke about improved interactions between medical specialists and caregivers and patients when the clinicians were aware of the diagnosis (Costain et al, 2012).…”

“…Six studies were qualitative in nature (Bales et al, 2010a; Goodwin, Alam, et al, 2017; Goodwin & Mccormack, 2017; Goodwin, McCormack, et al, 2017; Klingberg et al, 2010; Phillips et al, 2017), seven used mixed methods (Butcher et al, 2012; Chan et al, 2015; Cohen et al, 2017; Hercher & Bruenner, 2008; Karas et al, 2014; Martin et al, 2012; Okashah et al, 2015), and two exclusively quantitative papers were included (Briegel et al, 2008; Reilly et al, 2015). Qualitative methods used included interviews, surveys, and questionnaires.…”

“…The 14 included studies were conducted between 2008 and 2017 (Bales et al, 2010a; Briegel et al, 2008; Chan et al, 2015; Cohen, McCartney, & Crampin, 2017; Costain, Chow, Ray, & Bassett, 2012; Goodwin, Alam, et al, 2017; Goodwin & Mccormack, 2017; Goodwin, McCormack, et al, 2017; Hercher & Bruenner, 2008; Karas, Costain, Chow, & Bassett, 2014; Klingberg, Hallberg, & Óskarsdóttir, 2010; Martin et al, 2012; Okashah et al, 2015; Phillips, Goodwin, Johnson, & Campbell, 2017; Reilly et al, 2015), with the majority published between 2016 and 2017 ( n  = 5).…”

“…Six studies had mixed samples of parents, caregivers, siblings, patients, and professionals ( n  = 6) (Bales et al, 2010a; Cohen et al, 2017; Costain et al, 2012; Karas et al, 2014; Martin et al, 2012; Okashah et al, 2015). Six studies focused on experiences of parents and/or caregivers ( n  = 5) (Briegel et al, 2008; Goodwin & Mccormack, 2017; Goodwin, McCormack, et al, 2017; Hercher & Bruenner, 2008; Klingberg et al, 2010; Reilly et al, 2015), two studies focused exclusively on patients ( n  = 2) (Chan et al, 2015; Phillips et al, 2017), and one study focused on sibling (Goodwin, Alam, et al, 2017).…”