Page 146 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 4
History of otolaryngologic conditions
Chronic otitis media was reported most (56.7%), with an occurrence
comparable to what was previously reported in 22q11.2DS.7, 32 Globus
pharyngeus was reported in 18.3%, and related to feelings of stress in
some. Adults with globus may benefit from muscle relaxation therapy by
a speech-language therapist.33 Swallowing difficulties (10.0%) were often
accompanied by globus and were mostly related to eating solid food
such as dry meat. In a tertiary reference center for immunodeficiencies, a
prospective cohort study of 25 children and adolescents with 22q11.2DS,
that were all examined using videofluoroscopy, found swallowing
anomalies in 16%, including hypopharyngeal residues after swallowing and
nasal regurgitation.32 Sixteen percent of the participants in that study had
history of laryngeal aspiration.32 In a study in infants with 22q11.2DS who
were referred for swallow studies, 80% was found to have silent tracheal
aspirations.34 Another study in children reported a history of feeding
difficulties in 35.5%. Using barium swallow studies, it became clear that
dysmotility probably played an important role in these children.35 In a mouse
model of 22q11.2DS, feeding and swallowing difficulties at young age were
found to persist in adult mice.36 Balance problems, reported in 16.7%, may
relate to abnormalities of the vestibulum, cerebellum, and/or proprioceptive
system, lower muscle strength, and/or visual problems.18, 37-39 Movement
disorders, such as Parkinson’s disease, may also be considered in older
adults with 22q11.2DS.37, 40 The occurrence of OSA was comparable to
that previously reported in children and adults with 22q11.2DS.41, 42 OSA
can have a negative effect on quality of life, and may increase the risk
of cardiometabolic diseases.43 Given that OSA is a treatable condition,
polysomnography should be considered with a low threshold.44
We recommend otolaryngologic examination at least once for adults with
22q11.2DS. Special attention should be paid to conditions that may present
at adult age and may have treatment implications such as OSA, globus
pharyngeus, dysphagia and vestibular dysfunction.
Strengths and limitations
To our knowledge, this is the largest sample of adults with 22q11.2DS
who received audiometric testing and standardized otolaryngologic
examinations. Limitations of the study mainly relate to the retrospective
144