Page 127 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Parkinson’s disease in 22q11.2DS
disability (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, SNCA
or DJ-1), all with negative results. Therefore, presence of additional disease-
causing variants in the remaining 11 adults with PD cannot be ruled out.
3
Conclusion
This 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.
Acknowledgements
AvE is member of European Reference Network ITHACA.
Funding and/or financial disclosure
This 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 interests
The authors report no competing interests.
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