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Appendix l234obtained through fundoscopy, and peripapillary RNFL and macular thickness, obtained through optical coherence tomography, were compared between adults with 22q11.2DS and sex- and age-matched controls. Results indicate that retinal vascular fractal dimension and tortuosity are significantly higher in adults with 22q11.2DS compared to controls. In addition, significant negative correlations with age were found for fractal dimension and RNFL thickness in the global, temporal inferior and temporal superior segments in adults with 22q11.2DS, but not in controls. These findings support future studies that focus on retinal fractal dimension and RNFL thickness as potential biomarkers for age-related manifestations in 22q11.2 including psychotic and (early) neurodegenerative disorders.In chapter 7 findings are presented related to trauma and post-traumatic stress disorder (PTSD) in adults with 22q11.2DS. Previous studies indicated a lower prevalence of PTSD in individuals with 22q11.2DS compared to the general population; 0.9% vs 3.6% respectively. The prevalence of PTSD was hypothesized to be higher. Therefore, PTSD prevalence, and potential predictors to PTSD, were studied in 112 adults with 22q11.2DS (45% male, mean age 32.5 ± 12.4 years). A chart review was performed of individuals with 22q11.2DS who visited the Dutch specialty clinic for adults with 22q11.2DS at Maastricht or ‘s Heeren Loo. Results indicate a prevalence of PTSD of 8.0% (95% CI 3.0% - 13.0%) in adults with 22q11.2DS. A traumatic event was experienced in 23 adults (20.5%): mostly sexual violence (10.7%) or serious injury (9.8%). An additional 17 adults (15.2%) experienced other potential traumatic events, including bullying (11.6%) and multiple hospitalizations/surgeries (3.6%). Treatment for trauma was reported in 20 adults (17.9%), of whom 8 with PTSD, and included Eye Movement Desensitization Reprocessing (EMDR, 17.0%) and cognitive behavioral therapy (1.8%). Neither sex nor full-scale intelligence quotient was associated with PTSD. Findings of this study indicate that PTSD and trauma appear to be prevalent in adults with 22q11.2DS, and may have been overshadowed by, or attributed to, other psychiatric disorders in previous research. Previous studies have shown that treatment strategies for trauma, including EMDR, were effective in people with an intellectual disability in general. Given the large impact PTSD can have on a person’s wellbeing, clinicians should be alert to PTSD in 22q11.2DS in order to minimize