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General introduction211Outline of this thesisChapter 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.