Page 117 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Parkinson’s disease in 22q11.2DS
Introduction
The 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.5
However, 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.6
3
Materials and methods
We 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.
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