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 ... Research Article
Research Article  |   June 01, 2016
Prevalence and Nature of Hearing Loss in 22q11.2 Deletion Syndrome
 
Author Affiliations & Notes
  • Charlotte Van Eynde
    Otorhinolaryngology, Head and Neck Surgery, University Hospitals Leuven, Belgium
  • Ann Swillen
    Center for Human Genetics, University Hospitals Leuven, Belgium
  • Elien Lambeens
    Otorhinolaryngology, Head and Neck Surgery, University Hospitals Leuven, Belgium
  • Nicolas Verhaert
    Otorhinolaryngology, Head and Neck Surgery, University Hospitals Leuven, Belgium
    ExpORL, KU Leuven, Belgium
  • Christian Desloovere
    Otorhinolaryngology, Head and Neck Surgery, University Hospitals Leuven, Belgium
  • Heleen Luts
    ExpORL, KU Leuven, Belgium
  • Vincent Vander Poorten
    Otorhinolaryngology, Head and Neck Surgery, University Hospitals Leuven, Belgium
  • Koenraad Devriendt
    Center for Human Genetics, University Hospitals Leuven, Belgium
  • Greet Hens
    Otorhinolaryngology, Head and Neck Surgery, University Hospitals Leuven, Belgium
    ExpORL, KU Leuven, Belgium
  • Disclosure: The authors have declared that no competing interests existed at the time of publication.
    Disclosure: The authors have declared that no competing interests existed at the time of publication. ×
  • Correspondence to Greet Hens: greet.hens@uzleuven.be
  • Editor: Nancy Tye-Murray
    Editor: Nancy Tye-Murray×
  • Associate Editor: Suzanne Purdy
    Associate Editor: Suzanne Purdy×
Article Information
Hearing / Research Articles
Research Article   |   June 01, 2016
Prevalence and Nature of Hearing Loss in 22q11.2 Deletion Syndrome
Journal of Speech, Language, and Hearing Research, June 2016, Vol. 59, 583-589. doi:10.1044/2015_JSLHR-H-15-0098
History: Received March 22, 2015 , Revised July 28, 2015 , Accepted November 18, 2015
 
Journal of Speech, Language, and Hearing Research, June 2016, Vol. 59, 583-589. doi:10.1044/2015_JSLHR-H-15-0098
History: Received March 22, 2015; Revised July 28, 2015; Accepted November 18, 2015

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.

Acknowledgment
The last author (GH) is supported by a scientific grant from the Research Foundation Flanders (FWO) and from the funds of Annie Planckaert-Dewaele.
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