Page 135 - Demo

Hearing loss and otolaryngological conditions1334IntroductionThe 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.7However, little is known about hearing loss in adults with 22q11.2DS.3, 8Therefore, 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.MethodsEditorial Policies and Ethical ConsiderationsThe 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 settingThis 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.