Page 237 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Summary
psychiatric burden. Systematic studies in individuals with 22q11.2DS are
needed to improve diagnosis, using strategies adjusted to their cognitive
profile and including attention for seemingly innocuous life events that may
be traumatic, and to evaluate the efficacy of treatments in this population.
In chapter 8 results of individual studies of this thesis are discussed in a
broader context and in relation to previous research. Collectively, studies
included in this thesis seem to point to precocious aging in adults with
22q11.2DS. In addition, this chapter provides recommendations for future
research, including longitudinal studies over the life course of individuals
with 22q11.2DS or other GNDs and cross-GND studies that may aid in our
understanding of the (shared) underlying mechanisms and move treatment
discoveries.
In chapter 9 the impact of the included studies in this thesis is discussed
on society, including health care, and science. Mostly, impact was achieved
by implementation of study results and recommendations described in
this thesis into the clinical recommendations for children and adults with
22q11.2DS, and by sharing results with a broad audience of physicians of
various medical specialties and adults with 22q11.2DS and their families in
order to improve care and quality of life of adults with 22q11.2DS.
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