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

Purpose

The purpose of this study was to clarify the prevalence, type, severity, and age-dependency of hearing loss in 22q11.2 deletion syndrome.

Method

Extensive audiological measurements were conducted in 40 persons with proven 22q11.2 deletion (aged 6–36 years). Besides air and bone conduction thresholds in the frequency range between 0.125 and 8.000 kHz, high-frequency thresholds up to 16.000 kHz were determined and tympanometry, acoustic reflex (AR) measurement, and distortion product otoacoustic emission (DPOAE) testing were performed.

Results

Hearing loss was identified in 59% of the tested ears and was mainly conductive in nature. In addition, a high-frequency sensorineural hearing loss with down-sloping curve was found in the majority of patients. Aberrant tympanometric results were recorded in 39% of the ears. In 85% of ears with a Type A or C tympanometric peak, ARs were absent. A DPOAE response in at least 6 frequencies was present in only 23% of the ears with a hearing threshold ≤30 dB HL. In patients above 14 years of age, there was a significantly lower percentage of measurable DPOAEs.

Conclusion

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.

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