Page 195 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Post-traumatic stress in 22q11.2DS
Introduction
22q11.2 deletion syndrome (22q11.2DS) is a genetic multisystem
disorder with an estimated prevalence of 1 in 2148 live births.1 Patients
with 22q11.2DS have the highest known genetic risk for schizophrenia,
and other psychiatric disorders are collectively even more common.
2
Counterintuitively, the reported prevalence of post-traumatic stress disorder
(PTSD), a psychiatric disorder related to the experience or witnessing of
a traumatic event, is much lower compared to the reported prevalence in
the general population; 0.9% in 22q11.2DS vs 3.9%.2, 3 Despite advances in
treatment of PTSD,4 multiple factors including under-recognition of PTSD
and experiences of traumatic events could limit implementation of these
best practices, contributing to psychiatric burden in 22q11.2DS.5
We hypothesized a higher prevalence of PTSD in adults with 22q11.2DS
compared to the general population.3 Therefore, we aimed to explore: 1)
the prevalence of, and potential predictors to, PTSD and 2) the prevalence
of potentially traumatic events in 112 adult patients who visited one of the
two Dutch specialty clinics.
Methods
As part of ongoing studies on 22q11.2DS, we retrospectively reviewed
documentation of direct assessments and available medical records from
patients who were 16 years or older at the 22q11.2 outpatient clinic at
Maastricht University Medical Centre+ (MUMC) and/or ‘s Heeren Loo.
The authors assert that all procedures contributing to this work comply with
the ethical standards of the relevant national and institutional committees
on human experimentation and with the Helsinki Declaration of 1975, as
revised in 2008. All procedures involving human subjects at MUMC were
approved by the medical ethics committee of MUMC (#14-2044, #19-044).
A waiver for formal approval of the study at ‘s Heeren Loo was obtained
from the medical ethics committee of Amsterdam UMC, the Netherlands
(#W20_098). Written informed consent was obtained from all patients and/
or legal representatives.
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