Page 207 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

General discussion and future perspectives
as 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, 25
Vision and ocular findings
Because only a minority of adults had ocular findings of clinical relevance, low-
threshold 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
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