Page 235 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Summary
conducted including 60 adults (42% male, median age 25.0 (range 16-74)
years) with 22q11.2DS who visited an otolaryngologist and audiologist at
the 22q11.2 expert center in Maastricht. Results of this study indicate a
high prevalence, of 78.3%, of hearing loss in adults with 22q11.2DS, which
was mostly high-frequency sensorineural loss. Higher age and a history
of chronic otitis media were associated with more severe hearing loss.
Otolaryngologic conditions with possible treatment implications included
chronic otitis media (56.7%), globus pharyngeus (18.3%), balance problems
(16.7%) and obstructive sleep apnea (8.3%). Based on these findings,
periodic audiometric screening is recommended in all adults, including
high-frequency ranges, and otolaryngological examination at least once.
In chapter 5 results are presented of a systematic literature review and multi-
center cross-sectional study of ocular findings in children and adults with
22q11.2DS. The systematic literature search yielded four articles, describing
270 individuals and the cross-sectional study included 132 individuals (45%
male, median age 8.9 (range 0-56) years). Most reported ocular findings
were retinal vascular tortuosity (32-78%), posterior embryotoxon (22-50%),
eye lid hooding (20-67%), strabismus (12-36%), amblyopia (2-11%), ptosis
(4-6%) and refractive errors, of which hyperopia (6-48%) and astigmatism
(3-23%) were most common. Visual acuity was (near) normal in most
individuals (91-94%).
Results of this study indicate that clinicians should be aware of refractive
errors, strabismus and amblyopia, and the beneficial result of detection
and correction at an early age. Therefore, standardized ophthalmic and
orthoptic screening is recommended in children with 22q11.2DS at the age
of three years or at diagnosis, and a low-threshold for referral in adults.
In chapter 6 differences are explored in retinoneural and retinovascular
parameters between adults with 22q11.2DS and controls, and in relation to
age. Because retinal and cerebral tissue share embryological, physiological
and anatomical characteristics, retinal blood vessel morphology and retinal
nerve fiber layer (RNFL) thickness have been proposed as non-invasive
biomarkers for psychiatric and neurodegenerative disorders. Central retinal
artery and vein equivalent, fractal dimension, and vascular tortuosity,
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