Page 216 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 8
and contributors.77-79 Brain imaging studies, such as done by the ENIGMA
working groups for copy number variants,80 mouse models and (stem)
cell studies may be used to better understand the pathophysiology of
conditions associated with GNDs over the life span or to identify new
treatment targets.79, 81-83 An example can be found in a study that made
use of mouse models of Fragile X syndrome, Rett syndrome and Down
syndrome in addition to cell cultures to demonstrate that astrocytes
contribute to the abnormal neural development found in these GNDs,78
thereby providing insights into shared underlying mechanisms. Although
individually rare, GNDs are collectively common affecting about 3% of the
population,84 and inclusion or identification of individuals with GNDs in
population-based prospective cohort studies, such as Lifelines DEEP or
the Maastricht study,85, 86 may facilitate the study of the pathophysiology
and biomarkers for disease by, for example, studies of the metabolome
or microbiome,87, 88 and comparison between GNDs and with the general
population. These large population-based studies often use standardized
measurements and extensive phenotyping, in addition to assessment of
genetic and environmental factors of all participants, which is not always
feasible in smaller studies of individual GNDs.
Last, improvement and study of the use of wearables and applications,
such as used for experience sampling, may help to understand the effects
of stress, nutrition or physical exercise on physical and mental health in
GNDs, and can be used to study effects of interventions aimed at improving
healthy living and aging. Experience sampling has already been applied in
individuals with 22q11.2DS in the study of cortisol reactivity to subjective
stress, demonstrating altered cortisol response to daily stress in individuals
with 22q11.2DS compared to controls.21 This may aid in our understanding
of conditions such as post-traumatic stress in adults with 22q11.2DS
(chapter 7), and other physical symptoms that may be related to stress.
Actigraphy may be used to study the effect of sleep interventions, which
has been done in children with Down syndrome,89 and may be used to
study sleep disorders and interventions in other GNDs as well, including
obstructive sleep apnea in adults with 22q11.2DS (chapter 4).
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