Page 211 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

General discussion and future perspectives
Dysregulation of cellular processes in 22q11.2DS and other GNDs may
result in an increased susceptibility of long-lived neurons to develop
neurologic and psychiatric disorders over the life span, morbidities that
were frequently reported in GNDs described in chapter 2.
Figure 1. Mitochondrial dysfunction may contribute to both neurodevelopmental and
neurodegenerative disorders (adapted from Granat at el.52)
8
These findings may support the hypothesis of a neurodevelopmental
neurodegenerative continuum.46, 53 Other findings in adults with 22q11.2DS,
described in chapters 4 and 6, may be indicative of this overlap as well.
Hearing loss was found to be positively related to age, comparable to
what has been reported in the general population,4 but presented at a
much younger age in adults with 22q11.2DS. In addition, the decrease of
retinal fractal dimension with age in adults with 22q11.2DS, described in
209