Page 23 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

General introduction
Outline of this thesis
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Chapter 2 describes results and implications of a systematic literature
review on parkinsonism in GNDs. More specific, this chapters provides an
overview of GNDs that have been described with parkinsonism, summarizes
evidence of neurodegenerative parkinsonism (Parkinson’s disease), possible
underlying mechanisms contributing to the neurodevelopmental disorder
as well as neurodegenerative parkinsonism, and provides implications for
clinical practice and research.
In chapter 3 an estimated prevalence of Parkinson’s disease in 22q11.2DS
is presented, as well as possible predictors to Parkinson’s disease in this
population including age and sex.
The sensory system in individuals with 22q11.2DS is discussed in chapters
4 and 5, focusing on hearing and vision. The history of otolaryngologic
manifestations and the prevalence and characteristics of hearing loss in
adults with 22q11.2DS are examined in chapter 4. Ocular findings and
visual acuity in children and adults with 22q11.2DS are presented in chapter
5, together with results from a systematic literature review on this topic.
Furthermore, chapters 4 and 5 provide recommendations for screening of
otolaryngologic and ophthalmologic conditions in adults with 22q11.2DS. In
addition to the ocular findings, optometry results in adults with 22q11.2DS
are described in chapter 6. This chapter examines differences in retinal
vessels and retinal nerve tissue between adults with 22q11.2DS and
controls and in relation to age.
Chapter 7 provides an estimated prevalence of, and possible contributors
to, PTSD in adults with 22q11.2DS.
Finally, chapter 8 includes a general discussion of the studies included in
this thesis and chapter 9 discusses the impact of study results on society
and science.
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