Page 127 - Demo

Parkinson’s disease in 22q11.2DS1253disability (ID) is less common compared to children, it is likely that 22q11.2DS is underdiagnosed in individuals (with an ID) over 50 years, who were found to have the highest PD prevalence rates. It is also possible that PD prevalence rates were influenced in the opposite direction, since all included sites were 22q11.2 outpatient specialty clinics adults with a less severe phenotype may not have visited these clinics resulting in selection bias. Age groups of individuals aged 50 years and older were rather small, making it difficult to provide reliable prevalence rates for the highest age groups. Other studies in the general population often did not report prevalence rates for PD under the age of 30,9 or even 40 years,8, 34 making it difficult to compare results of the youngest age groups to the general population. Only four adults were tested for variants in PD genes (LRRK2, PARK2, PINK1, SNCAor DJ-1), all with negative results. Therefore, presence of additional diseasecausing variants in the remaining 11 adults with PD cannot be ruled out.ConclusionThis study provides more insight into the course of neurologic manifestations of 22q11.2DS, showing an increased risk of developing PD compared to individuals from the general population, without a difference in PD prevalence between males and females. Periodic neurological evaluation, preferably by a movement disorder specialist, is warranted in all adults with 22q11.2DS aged 40 years and older, in order to enable early diagnosis and treatment.AcknowledgementsAvE is member of European Reference Network ITHACA.Funding and/or financial disclosureThis work was supported financially by Stichting Wetenschappelijk Onderzoek, ‘s Heeren Loo (#2210100). The funder had no role in the design and conduct of the study, preparation of the review, or approval of the manuscript.Competing interestsThe authors report no competing interests.