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Appendix l232genetic testing. Further recognition of parkinsonism in these GNDs may provide insights into the mechanisms causing parkinsonism in the general population, crucial for the development of disease-modifying treatments.In chapter 3 the estimated prevalence of Parkinson’s disease is examined in adults with 22q11.2DS. An increased risk of Parkinson’s disease, of 20-to70-fold, has previously been suggested in adults with 22q11.2DS. However, prevalence estimates were based on only 68 individuals with 22q11.2DS, at a relatively young age of 35 to 64 years. A multicenter cross-sectional study was conducted that included 856 adults (47% male, at mean age 46.5 ± 15.4 years) with 22q11.2DS who visited one of the specialized 22q11.2DS clinics in the Netherlands (Maastricht University Medical Centre and ‘s Heeren Loo), Belgium (University Hospital Leuven), Canada (Dalglish Family 22q Clinic, Toronto) and Chile (University of Santiago). Parkinson’s disease was defined as a clinical diagnosis by a neurologist, and presence of bradykinesia and at least one of either rest tremor or rigidity. Suspected Parkinson’s disease was defined as a clinical diagnosis of Parkinson’s disease or a clinical suspicion of Parkinson’s disease without complying to the formal criteria. The results indicate a prevalence of 1.8% for Parkinson’s disease (95% CI: 0.9 – 2.6) and 3.4% (95% CI: 2.2 – 4.6%) in case adults suspected of Parkinson’s disease were included. A sharp increase in the prevalence of Parkinson’s disease was seen in adults with 22q11.2DS aged 50 years and older (11.7%). In contrast to Parkinson’s disease in the general population, male sex was not associated with an increased risk in adults with 22q11.2DS. Based on these findings, periodic evaluation of motor symptoms by a neurologist, preferably a movement disorder specialist, seems justified in adults with 22q11.2DS aged 40 years and older. Individuals with 22q11.2DS at any age showing parkinsonian motor signs may benefit from careful monitoring and referral for neurological examination in case of doubt of the etiology.In chapter 4 results regarding hearing loss and otolaryngological conditions in adults with 22q11.2DS are reported. Previous studies showed an increased prevalence of hearing loss and chronic otitis media in 22q11.2DS. Since most studies focused on children, and the knowledge on adults is still scarce, the aim of this study was to report on hearing and otolaryngological findings in adults. Therefore, a cross-sectional study was