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Impact2259ImpactThe overall aim of this thesis was to gain insight into conditions that develop, or are present, in adults with a genetic syndrome, with a focus on 22q11.2 deletion syndrome (22q11.2DS). Study topics included parkinsonism, otolaryngology, ophthalmology and post-traumatic stress. In this chapter the societal and research impact of the studies included in this thesis are discussed.The main findings included an increased risk of Parkinson’s disease, hearing loss, chronic middle ear infections, swallowing difficulties, balance problems, obstructive sleep apnea (a sleep disorder), refractive errors (for example farsightedness) and post-traumatic stress in adults with 22q11.2DS. Treatment options exist for most of these conditions and preferably start as soon as possible in order to minimize disease burden and improve quality of life. The studies described in this thesis include recommendations for clinical care, mostly aimed at improving screening in order to early detect conditions that may frequently be present in adults with 22q11.2DS. A summary of the most important recommendations is provided in the first section of the discussion in chapter 8. Some of the published findings and recommendations have already been incorporated in the recently updated international clinical practice recommendations for children and adults with 22q11.2DS,1, 2 that provide guidance for clinicians treating individuals with 22q11.2DS and for genetic counseling. Results are relevant to clinicians and other care givers of various medical specialties. Therefore, results have been presented at local, national and international symposia and conferences for patient organizations and for clinicians that treat individuals with 22q11.2DS including clinical geneticists, physicians for people with an intellectual disability, neurologists, otolaryngologists and ophthalmologists. In addition to scientific publications in peer-reviewed journals, results related to sensory deficits and post-traumatic stress in adults with 22q11.2DS have been made available in Dutch in a magazine for clinicians who treat people with an intellectual disability. For genetic syndromes that were associated with parkinsonism described in chapter 2, recommendations were provided to improve recognition