RESUMO
BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is a genetic disorder associated with neurodevelopmental, anxiety and mood disorders, as well as an increased risk for developing psychosis. Cortisol levels and stress reactivity reflect hypothalamic-pituitary-adrenal (HPA)-axis activity, and are believed to be altered in individuals that often experience daily-life stress, depression, and psychotic symptoms. However, it is unknown whether individuals with 22q11DS display an altered stress reactivity. METHODS: We included 27 adults with 22q11DS (mean age: 34.1 years, 67% female) and 24 age and sex-matched healthy controls (HC; mean age: 39.9 years, 71% female) into an experience sampling study. Throughout 6 consecutive days, we measured participants' subjective stress related to current activity and at the same time collected salivary cortisol samples. Multilevel regression models were used to analyze cortisol reactivity to activity-related stress. RESULTS: Diurnal cortisol levels were significantly lower in the 22q11DS group compared to HCs (B=-1.03, p < 0.001). 22q11DS adults displayed significantly attenuated cortisol reactivity to activity-related stress compared to HCs (B = -0.04, p = 0.026). Post-hoc exploratory analysis revealed that these results were independent from 22q11DS psychiatric diagnosis or medication use. CONCLUSION: These results indicate that adults with 22q11DS have lower cortisol levels and attenuated cortisol response to daily stress, possibly resulting from an increased sensitization of the HPA-axis. This suggests that alterations in HPA-axis functioning, previously reported in several psychiatric disorders including post-traumatic stress disorder (PTSD), psychotic disorder, and mood disorder, also appear to be present in adults with 22q11DS.