Page 119 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Parkinson’s disease in 22q11.2DS
aged ≥70 years (n=5). A binary logistic regression analysis was used to
identify possible predictors of the presence of established PD. For this we
considered age and sex based on previous studies.8 In order to limit the
risk of underestimating PD prevalence, we repeated the analyses including
individuals with suspected PD. All analyses used two-tailed, with statistical
significance defined as P<0.05 using IBM SPSS software (Statistics 28; Inc.,
Chicago, IL, USA).
Data availability statement
The data are not publicly available due to privacy and ethical restrictions.
Any data requests can be directed to the corresponding author.
3
Results
PD was reported in 1.8% (95% CI: 0.9–2.6, n=15) of the adults with 22q11.2DS,
and in 11.7% (95% CI: 5.7–17.7, n=13/111) of those aged 50 years and older
(Table 1). Clinical features can be found in Table 2. In the majority of cases
(86.7%, n=13), the neurologist who confirmed the diagnosis was known to
be a movement disorder specialist. The SMR for PD in 22q11.2DS was 27.9
(95% CI: 14.9–46.8). Mean age at motor onset and diagnosis of PD were
not significantly different between males and females (p=0.3 and p=0.4,
respectively). Only four adults were known to be tested for variants in PD
genes (LRRK2, PARK2, PINK1, SNCA or DJ-1), all with negative results.
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