Page 117 - Demo

Parkinson’s disease in 22q11.2DS1153IntroductionThe 22q11.2 deletion syndrome (22q11.2DS), a genetic neurodevelopmental disorder with a birth prevalence of ~1:2000,1 has been identified as a risk factor for early-onset Parkinson’s disease (PD).2, 3 Previous research has suggested that the prevalence of PD in adults with 22q11.2DS aged 35-64 years is ~6%, indicating a 20-70 fold increased risk of Parkinson’s disease (PD) in 22q11.2DS compared to the general population.2, 3 Importantly, PD in 22q11.2DS is comparable to PD in the general population in terms of its major clinical characteristics, including good response to standard treatment.4 Also, the importance of early diagnosis and early treatment of PD are well-recognized in 22q11.2DS.5However, there are still uncertainties regarding the actual PD risk in 22q11.2DS, hindering the provision of adequate information to affected individuals and their families and the introduction of screening and monitoring strategies in at risk groups. We therefore aimed to characterize the prevalence of, and contributors to PD in a large sample of adults with 22q11.2DS. We hypothesized that the prevalence of PD would be higher in 22q11.2DS than in the general population, and that age and male sex would be contributors to PD risk. In particular, we expected a sharp increase in the prevalence at a younger age than in PD in the general population, where PD is rare under the age of 50 years.6Materials and methodsWe conducted a cross-sectional multicenter study in 4 countries: 1 North American (Canada), 1 South American (Chile) and 2 European (Belgium and the Netherlands). Participants were recruited across five 22q11.2DS specialty clinics. The Institutional Review Board of each participating site approved this study or provided a waiver for formal ethical approval. All data were collected and analyzed according to national and international regulations. Written informed consent was obtained from all patients and/or legal representatives, unless a waiver for written consent was given by the Institutional Review Board for the use of pseudonymized clinical data.