Page 196 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 7
Sample
We studied data of 112 patients (mean age 32.5±12.4 years, 45% male)
with a molecularly confirmed 22q11.2 deletion. Patients were ascertained
through referrals from five main sources, from most to least frequent:
family medicine, intellectual disability medicine, paediatrics, psychiatry, and
medical genetics.
Outcome measures
We recorded information on demographic variables, cognitive functioning
(full-scale intelligence quotient; FSIQ), and psychiatric history. A clinical
diagnosis of PTSD was the primary outcome measure. We also recorded
traumatic events, defined as in the Diagnostic and Statistical Manual of
Mental Disorders, fifth edition (DSM-5) subsection A of PTSD (i.e., exposure
to actual or threatened death, serious injury or sexual violence according),
additional potentially traumatic events affecting daily functioning, and any
treatment for traumatic events.
Statistical analysis
We assessed prevalence rates of PTSD and frequencies of patients with
a history of traumatic events and/or treatment for trauma in our sample,
and calculated 95% confidence intervals (95% CI) using the formula CI=
p ± 1.96* √(p(1-p)/n). A logistic regression analysis was used to identify
potential predictors to the presence of a clinical diagnosis of PTSD. For this,
we considered sex and FSIQ based on previous studies.6 All analyses were
two-tailed p-values with statistical significance defined as <0.05 using IBM
SPSS software (Statistics 25; Inc., Chicago, IL).
Results
Nine patients (8.0%, 95% CI: 3.0%-13.0%) had a clinical diagnosis of PTSD,
of whom two were referred to specialized 22q11 clinics for trauma-related
problems and treatment (Table 1). Twenty-three (20.5%) of all patients
experienced one or more traumatic events according to DSM-5 criteria, with
12 (10.7%) reporting sexual violence, 11 (9.8%) serious injury (including
physical abuse), and 4 (3.6%) actual or threatened death. Neglect was
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