Abstract
Background22q11.2 deletion syndrome (22q11DS) is a genetic disorder associated with an increased risk of psychiatric disorders. Vulnerability for psychopathology has been related to an increased reactivity to stress. Here, we examined affective states, perceived stress, affective and psychotic reactivity to various sources of environmental stress using the experience sampling method (ESM), a structured diary technique allowing repeated assessments in the context of daily life.MethodsAdults with 22q11DS (n = 31; age, 34.1 years) and matched healthy controls (HCs; n = 24; age, 39.9 years) were included. ESM was used to assess affective states, perceived stress, and stress reactivity. Data were analyzed using multilevel regression models.ResultsAdults with 22q11DS displayed overall higher levels of negative affect but comparable levels of positive affect compared to HCs. Higher levels of perceived stress were reported by individuals with 22q11DS. Comparable affective and psychotic reactivity in relation to all types of environmental stress was observed between the two groups.ConclusionThe results point toward higher levels of negative affect and differences in the perception of daily hassles in 22q11DS but no difference in affective or psychotic reactivity to stress. This study contributes to the growing literature regarding the impact of stress on the development of psychopathology in the 22q11DS population.
Highlights
The 22q11.2 deletion syndrome (22q11DS) is one of the most common recurrent copy number variant disorders occurring in approximately 1 in 2000‐4000 births and is caused by a microdeletion resulting in hemizygosity for approximately 50 genes [1]. 22q11DS is associated with a variety of symptoms including physical, social, cognitive, and psychiatric problems
Four participants with 22q11DS had to be excluded because they did not provide enough experience sampling method (ESM) assessments. This resulted in a dataset of 2236 valid ESM reports from 51 subjects including n = 27 22q11DS who completed 1122 (68.21% compliance) ESM reports and n = 24 healthy controls (HCs) who completed 1114 ESM reports (77.92% compliance). 22q11DS participants completed significantly less momentary assessments compared to HCs (Table 2)
It should be noted that the average IQ in the 22q11DS group was 78, which is slightly above the average IQ reported in 22q11DS (e.g., [36]), and only 4 (14.8%) participants had an IQ falling into the intellectual disability range (IQ < 70)
Summary
The 22q11.2 deletion syndrome (22q11DS) is one of the most common recurrent copy number variant disorders occurring in approximately 1 in 2000‐4000 births and is caused by a microdeletion resulting in hemizygosity for approximately 50 genes [1]. 22q11DS is associated with a variety of symptoms including physical, social, cognitive, and psychiatric problems. Abnormal levels of (chronic) experienced (early life) stress have, in turn, been associated to increased risk for a wide range of psychiatric disorders (e.g., major depression, psychotic disorders, anxiety disorders, and posttraumatic stress disorder) [5,6,7,8], especially in vulnerable individuals [9, 10]. This is thought to be caused by sensitization or dysregulation of the hypothalamic-pituitary-adrenocortical (HPA) axis [11], responsible for the bodily stress response characterized by the secretion of, among others, the hormone cortisol [12]. A dysfunctional HPA axis could lead to abnormal stress reactivity, which is defined as the affective response to stressful events [13,14,15]
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