Page 229 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Impact
via newsletters to adults with 22q11.2DS who participated in studies at
Maastricht University Medical Center, which together with ‘s Heeren Loo,
offers a specialized clinic for adults with 22q11.2DS.
Results of the studies included in this thesis may inform future studies
aimed at finding or improving treatment for conditions that are frequently
present in adults with 22q11.2DS. For example, a study of the efficacy of
treatment for trauma in adults with 22q11.2DS has recently started.
In addition to the societal impact of the included studies, mostly health care
related, results may also have research implications.
The studies described in this thesis that were performed in adults with
22q11.2DS may suggest that 22q11.2DS is associated with precocious
aging, which has also been suggested in some other genetic syndromes
such as Down syndrome. Because previous research already provided
substantial knowledge of genes and affected mechanisms involved in the
development of genetic syndromes such as 22q11.2DS, they may serve as
a model to study mechanisms and novel treatment options of age-related
conditions such as Parkinson’s disease. Recognition of conditions that are
common at adult age in genetic syndromes enables future studies that
use mouse models or (stem)cells of genetic syndromes. Results of these
studies may not only be relevant to adults with a genetic syndrome but may
also improve our understanding of the etiology and treatment of these age-
related conditions in the general population.
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References
1. Boot E, Óskarsdóttir S, Loo JCY, et al. Updated clinical practice recommendations for managing
adults with 22q11.2 deletion syndrome. Genet Med. Mar 2023;25(3):100344. doi:10.1016/j.
gim.2022.11.012
2. Óskarsdóttir S, Boot E, Crowley TB, et al. Updated clinical practice recommendations for
managing children with 22q11.2 deletion syndrome. Genet Med. Mar 2023;25(3):100338.
doi:10.1016/j.gim.2022.11.006
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