Page 136 - Demo

Chapter 4134Participants and data sourcesWe included 60 adults (25 male) aged 16 years and older with a molecularly confirmed 22q11.2 deletion that included the LCR22A-LCR22B region, using standard methods.1 Participants were ascertained through referrals from general practice (n=21), pediatrics (n=15), intellectual disability medicine (n=11), clinical genetics (n=5), psychiatry (n=5), neurology (n=1), internal medicine (n=1), and otolaryngology (n=1). In one patient, reasons for referral included otolaryngological problems, i.e., globus pharyngeus. We excluded subjects with no audiometry data (n=3), including one 39-year-old female with history of hearing loss and hearing aids.We used available medical information to record data on demographics, molecular diagnosis, lifetime history of otolaryngological conditions, and most recent FSIQ score. All adults were routinely evaluated by an otolaryngologist and audiologist. Standard examinations included a semistructured interview, a complete ear-nose and throat examination, and audiometric testing. Two had their most recent audiogram at MUMC+ before 2016.Audiological assessmentsData for audiological assessments included pure-tone air and boneconduction audiometry. Unaided ear-specific hearing thresholds were measured from 0.25 to 8 kHz with pure-tone audiometry. Presence/absence and severity of hearing loss were classified with the Muenster classification because this classification includes criteria for high-frequency hearing loss (Table 1),12 that was often found in adults with 22q11.2DS. Thus, hearing loss was defined as having loss with a severity of grade two or higher.12Type and laterality of hearing loss, frequency ranges and audiometric configuration were classified using the European Working Group on the Genetics of Hearing Impairment definitions.13 Because most audiometric abnormalities in the 22q11.2DS sample concerned the high-frequencies, adaptations were made to these definitions, i.e.: 1) we averaged the puretone hearing thresholds over 0.5, 1, 2 and 4 kHz instead of 0.5, 1 and 2 kHz, to define type and laterality of hearing loss, 2) we introduced u-shaped configurations in order to classify individuals that performed best at the mid-frequencies, and 3) in addition to the standard criteria for gently and