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

Abstract

The 22q11 deletion syndrome (22q11DS) is one of the most common genomic disorders in humans, affecting around 1:2,000 to 1: 4,000 people. 22q11DS affects multiple body systems and is associated with multiple physical problems. Given the high rate of physical morbidity associated with the 22q11DS, it was hypothesized that it would exert a high psychosocial impact on patients and their relatives. To investigate this, a systematic review of the literature and narrative synthesis was performed. Three major themes emerged. First, the complex and conflicting emotions experienced by family members resulting from the diagnosis. Second, the pervasive educational and health‐care challenges associated with the diagnosis and third that people affect by 22q11DS strived for individualism. The results of this review help to inform clinical management of families with 22q11DS.

Lower cortisol levels and attenuated cortisol reactivity to daily-life stressors in adults with 22q11.2 deletion syndrome

“…However, sensitization of the stress system could occur in the absence of major traumatic events, for instance in response to the lifelong dayto-day stressful challenges associated with the syndrome (Swillen et al, 1999;Beaton and Simon, 2011). Minor daily life challenges (or unexpected events) might additionally be experienced more stressful (traumatic), potentially associated to the high levels of chronic stress and anxiety in (children with) 22q11DS (Swillen et al, 1999;Beaton and Simon, 2011;Phillips et al, 2017;Vo et al, 2018). Future studies should take these topics into account when investigating cortisol in 22q11DS before any definite conclusions on the role of chronic stress can be drawn.…”

“…The clinical phenotype of 22q11DS includes greater susceptibility to stress and anxiety, and poorer coping skills (Swillen et al, 1999;Beaton and Simon, 2011). Moreover, since children with 22q11DS often have to face medical (e.g., frequent hospitalizations and surgery (Mahle et al, 2003;Carotti et al, 2008)), cognitive (e.g., delayed cognitive development) (Gur et al, 2014;Swillen and McDonald-McGinn, 2015), and social challenges (e.g., bullying) (Swillen et al, 1999)) early in life, it is very likely that they may experience chronic stress, especially in infancy (Beaton and Simon, 2011;Vo et al, 2018). However, no study to date has investigated whether individuals with 22q11DS and healthy controls (HCs) differ in their experience of-and exposure to childhood adversity and chronic stress.…”

Who ever heard of 16p11.2 deletion syndrome? Parents’ perspectives on a susceptibility copy number variation syndrome

“…The most studied CNV is 22q11.2 deletion, which causes the most prevalent CNV syndrome [ 3 ]. For 22q11.2 deletion syndrome, a systematic review of studies on the psychosocial impact has shown that parents perceive a lack of knowledge and awareness regarding the syndrome amongst healthcare providers and that they need multidisciplinary care [ 4 ]. The increased risk of psychiatric diseases later in childhood appears to be especially challenging to discuss with parents of patients with 22q11.2 deletion syndrome [ 5 ].…”

“She’ll be able to live independently… as long as I’m around”: The “lived” experience of parenting a child with 22q11.2 deletion syndrome in the transition to adulthood

“…sexuality) for young people, parents and healthcare professionals (SEAD Project, ; TRASE‐Project, ). “The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review” by Vo, McNeill1, and Vogt () https://doi.org/10.1002/ajmg.a.38673; provides an overview of what is currently understood about 22q11DS. More efforts are needed to explore what emerging adults with 22q11DS would like to know about sex and sexuality and how they would like to receive this information.…”