Page 236 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Appendix l
obtained 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
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