Page 119 - Demo

Parkinson’s disease in 22q11.2DS1173aged ≥70 years (n=5). A binary logistic regression analysis was used toidentify 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 statementThe data are not publicly available due to privacy and ethical restrictions. Any data requests can be directed to the corresponding author.ResultsPD 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.