Page 135 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma
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Hearing loss and otolaryngological conditions
Introduction
The 22q11.2 deletion syndrome (22q11.2DS) is a multisystem disorder with
an estimated prevalence of 1 in 2148 live births, and is caused by recurrent
heterozygous microdeletions on chromosome 22q11.2.1, 2 The majority
(~85%) of individuals with 22q11.2DS have a de novo deletion1. Individuals
with 22q11.2DS show a marked variability in clinical manifestations, that
may include palatal abnormalities, congenital heart defects, intellectual
disability, and an increased risk of developing psychiatric disorders (e.g.,
schizophrenia) and neurodegenerative disorders that may present at young
age (e.g., early-onset Parkinson’s disease).3-6 Previous studies in 22q11.2DS,
mainly performed in children, have indicated an increased prevalence
of hearing loss (6-60%), with a predominance of the conductive type (6-
53%), most likely related to otitis media and Eustachian tube dysfunction.7
However, little is known about hearing loss in adults with 22q11.2DS.3, 8
Therefore, we aimed to study the prevalence and predictors of hearing
loss in adults with 22q11.2DS. We hypothesized that the severity of
hearing loss would be greater in those with higher age, with history of
chronic otitis media, and with lower full-scale IQ (FSIQ), based on previous
research.9-11 Secondary aims were to investigate lifetime history of other
otolaryngological conditions in 22q11.2DS.
4
Methods
Editorial Policies and Ethical Considerations
The study was approved by the Medical Ethics Review Board of MUMC+
(#2019-1440, METC 19-044/NL70681.068.19) that waived the need for
written consent to use pseudonymized clinical data.
Study design and setting
This was a retrospective study of otolaryngological conditions in patients
who visited the Dutch expert clinic for adults with 22q11.2DS at Maastricht
University Medical Center+ (MUMC+), The Netherlands, between January
2016 and April 2023.
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