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General discussion and future perspectives2058as seen in the general population, and comparable to what has been found in adults with Down syndrome as mentioned before.8, 16 Otolaryngologic findings that were reported in previous studies in individuals with 22q11.2DS, such as obstructive sleep apnea and balance problems, were found in this study as well,17, 18 in addition to globus pharyngeus which has not been reported before in studies of adults with 22q11.2DS. In some adults globus pharyngeus was accompanied by, and potentially related to, feelings of stress. It may therefore be interesting to study stress in relation to other prevalent, not yet fully understood, symptoms in individuals with 22q11.2DS, such as fatigue and gastro-intestinal manifestations, 19, 20 because of possible altered stress reactivity and cortisol levels in 22q11.2DS,21 and links between stress and several physical and mental conditions in the general population.22, 23 Results of the study discussed in chapter 4 may help to close the knowledge gap concerning conditions that are present at adult age and may improve clinical practice. Based on results of this study, periodic audiometric screening is recommended, including high-frequency testing at 8 kHz, and otolaryngologic examination at least once in adulthood. Depending on the severity of hearing loss, hearing aids may be prescribed to amplify sounds to improve hearing, which may even prevent or diminish depressive symptoms, stress, anxiety and improve quality of life.24, 25Vision and ocular findingsBecause only a minority of adults had ocular findings of clinical relevance, lowthreshold referral to an ophthalmologist upon indication is recommended in chapter 5. Because ophthalmic findings in adults seemed to be comparable to those in adults with an intellectual disability in general, adults with 22q11.2DS may adhere to regular screening guidelines for individuals with an intellectual disability.26 In addition, as a result of some clinically relevant but rare findings, testing for a second genetic hit is recommended in case of a second, possibly genetic, diagnosis such as tapetoretinal degeneration or congenital cataract. Dual diagnoses have been reported in previous studies in individuals with 22q11.2DS, sometimes resulting from genetic variants on the non-affected allele, and may have implications for clinical care and genetic counseling.27