22q11.2 Deletion Syndrome: Attitudes towards Disclosing the Risk of Psychiatric Illness

Abstract

Abstract22q11.2 Deletion Syndrome (22q11.2DS) is a common microdeletion syndrome with multisystem features. There is a strong association with psychiatric disorders. One in every four to five patients develop schizophrenia. Despite studies showing that early diagnosis and treatment are likely to lead to improved outcome, genetic counselors may be reluctant to discuss the risk of psychiatric illness. The aim of this research was to explore parental attitudes and genetic counselors' perspectives and practice regarding disclosure of the clinical manifestations of 22q11.2DS, particularly the risk of psychiatric illness. We delivered a questionnaire to genetic counselors via established list-serves, 54 of which were completed. We also conducted interviews with four parents of adults with 22q11.2DS and schizophrenia. The majority of counselors and parents felt that the increased risk to develop a psychiatric illness is important to disclose. However, in the CIHR Author Manuscript CIHR Author Manuscript CIHR Author Manuscriptinitial counseling session when the diagnosis was made in infancy genetic counselors were significantly less likely to discuss the risk of psychiatric disorders compared to other later onset features such as hypothyroidism (41 % vs. 83 %, p=0.001). When the diagnosis of 22q11.2DS was made in infancy, counselors' responses in regard to timing of disclosure about psychiatric illnesses were fairly evenly divided between infancy, childhood and adolescence. In contrast, for other major features of 22q11.2DS, disclosure would predominantly be in infancy. The respondents reported that the discussion of psychiatric issues with parents was challenging due to the stigma associated with mental illness. Some also noted limited knowledge about psychiatric illness and treatment. These results suggest that genetic counselors could benefit from further education regarding psychiatric illness in 22q11.2DS and best strategies for discussing this important subject with parents and patients.

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).…”