title: Prevalence and Nature of Hearing Loss in 22q11.2 Deletion Syndrome.
abstract: The purpose of this study was to clarify the prevalence, type, severity, and age-dependency of hearing loss in 22q11.2 deletion syndrome.
  
  
  
  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.
  
  
  
  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.
  
  
  
  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.
authors.forename: Charlotte
authors.initials: C
authors.lastname: Van Eynde
authors.forename: Ann
authors.initials: A
authors.lastname: Swillen
authors.forename: Elien
authors.initials: E
authors.lastname: Lambeens
authors.forename: Nicolas
authors.initials: N
authors.lastname: Verhaert
authors.forename: Christian
authors.initials: C
authors.lastname: Desloovere
authors.forename: Heleen
authors.initials: H
authors.lastname: Luts
authors.forename: Vincent Vander
authors.initials: VV
authors.lastname: Poorten
authors.forename: Koenraad
authors.initials: K
authors.lastname: Devriendt
authors.forename: Greet
authors.initials: G
authors.lastname: Hens
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004062:DiGeorge Syndrome / Q000150:complications* / Q000453:epidemiology* / Q000473:pathology / Q000503:physiopathology; D004423:Ear / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006314:Hearing Loss, Conductive / Q000150:complications* / Q000453:epidemiology* / Q000473:pathology / Q000503:physiopathology; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000453:epidemiology* / Q000473:pathology / Q000503:physiopathology; D006320:Hearing Tests; D006801:Humans; D008297:Male; D015995:Prevalence; D012720:Severity of Illness Index; D055815:Young Adult