Prevalence and Nature of Hearing Loss in 22q11.2 Deletion Syndrome

Abstract

Hearing loss in 22q11.2 deletion syndrome is highly prevalent and both conductive and high-frequency sensorineural in nature. The age-dependent absence of DPOAEs in 22q11.2 deletion syndrome suggests cochlear damage underlying the high-frequency hearing loss.

Prevalence of hearing loss and clinical otologic manifestations in patients with 22q11.2 deletion syndrome: A literature review

“…They furthermore estimated that less than 2.2% of children in this age group had sensorineural hearing loss, and less than 3.5% of children between three and 19 years had conductive hearing loss . Although the outcome of our included studies differed much, 20 of 21 studies found a prevalence of hearing loss greater than the previously reported 14.9% hearing loss in the general population …”

“…Rates of hearing loss, all types of hearing loss included, varied from 6.0% to 60.3%. Aside from decreased hearing thresholds in standard frequencies, Van Eynde et al and Zarchi et al found hearing loss to be more present and more severe in the high tones (Van Eynde et al measured thresholds at 4, 8, 9, 10 and 11.2 kHz and Zarchi et al at (4), 6 and 8 kHz). Conductive hearing loss was most prevalent in most studies (range 5.6% to 53%).…”

“…The rate of sensorineural and mixed hearing loss in the included studies differed from 0% to 19.4% and from 0% to 28.2% respectively. The severity of hearing loss was reported by nine studies and was mostly of mild severity (≤40 dB) …”

“…A medical history of recurrent or chronic otitis media was present in 2.2% to 89.8%. Cross‐sectional results revealed a prevalence of 3.8% to 25.8% of otitis media, including otitis media with effusion (serous) diagnosed with otoscopy and/or tympanometry …”

Diagnosis and management of conductive hearing loss in children with trisomy 21

“…It has been extensively documented that hearing loss is more frequent in children with trisomy 21 than in healthy children . Research has shown that 50–90% of children with trisomy 21 will have at least a mild to moderate hearing loss compared with 0.25–1% in healthy children .…”