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

Chapter 1
Post-traumatic stress
Post-traumatic stress disorder (PTSD) is a psychiatric disorder that may
develop after experiencing or witnessing a traumatic event, such as actual or
threatened death, serious injury or sexual violence.83 PTSD is characterized
by intrusion symptoms, such as nightmares or flashbacks, avoidance of
stimuli associated with the traumatic event, negative alterations in cognition
and mood and alterations in arousal and reactivity, such as angry outbursts
or difficulties with concentration.83 If these symptoms are present for more
than one month, cause a significant impairment in functioning, and are
not attributable to substance abuse or other medical conditions, someone
fulfills the criteria of PTSD according to the Diagnostic and Statistical
Manual of Mental Disorders-5.83 PTSD has a large impact on the quality
of life, and makes it difficult for people to continue with their daily life
activities. However, treatment has shown to be effective in both the general
population and people with an intellectual disability, and may consist of eye
movement desensitization and reprocessing therapy or cognitive behavior
therapy.84, 85
The reported lifetime prevalence of PTSD in the general population is
about 4%, and 6% for those who have been exposed to traumatic events.86
Individuals with an intellectual disability or other developmental delay
may have an increased exposure to traumatic events and higher risks of
developing PTSD.87-89 There has been only one study in individuals with
22q11.2DS, that reported a lifetime prevalence of PTSD of 0.9%,32 which is
lower compared to the general population.86 However, only a minority of the
participants in this study had reached adulthood.
Scope of this thesis
The previous paragraphs provide a rationale for the study of several
conditions in adults with 22q11.2DS including Parkinson’s disease,
otolaryngologic and ophthalmologic conditions and post-traumatic stress,
in addition to the study of retinovascular and retinoneural parameters. The
studies described in this thesis are limited to the aforementioned topics
that were selected because of their clinical relevance, few published studies
on these topics so far and the clinical expertise of the specialized 22q11.2
clinics for adults at MUMC and ‘s Heeren Loo.
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