title: Is hearing loss a feature of Joubert syndrome, a ciliopathy?
abstract: OBJECTIVE
  To assess if hearing loss is a feature of Joubert syndrome (JBS), one of the ciliopathies and therefore possibly associated with hearing loss.
  
  
  METHODS
  Retrospective case series.
  
  
  METHODS
  University Children's Hospital.
  
  
  METHODS
  Dutch patients with JBS.
  
  
  METHODS
  Audiological data.
  
  
  RESULTS
  Data from 22 Dutch Joubert syndrome (JBS) cases (17 males, 5 females) aged 3-40 years were available. Audiological tests were successfully performed in 14 cases. Three cases (aged 17-26 years) showed very mild sensorineural hearing loss (SNHL) at different frequencies. Conductive hearing loss due to middle ear infections occurred frequently in young JBS children (6 out of 22 cases). In three cases (aged 3-13 years) the parents reported the child was hypersensitive to sound.
  
  
  CONCLUSIONS
  We found no evidence for significant hearing loss in Joubert syndrome patients. However, given the compromised speech development in JBS, conductive hearing loss due to middle ear infections should be treated vigorously. SNHL at a later age cannot be excluded on the basis of our data, given the sample size. Three of the older cases showed discretely increased hearing thresholds. Analogous to the ciliopathy Bardet-Biedl syndrome, where hearing thresholds were reported to be subclinically increased in a group of adolescents patients, we recommend follow-up of JBS patients in view of the possibility of progressive, late-onset SNHL.
authors.affiliation: Dept. of Medical Genetics, University Medical Center Utrecht, The Netherlands. h.y.kroes@umcutrecht.nl
authors.forename: Hester Y
authors.initials: HY
authors.lastname: Kroes
authors.forename: Bert G A
authors.initials: BG
authors.lastname: Van Zanten
authors.forename: Sander A
authors.initials: SA
authors.lastname: De Ru
authors.forename: Maartje
authors.initials: M
authors.lastname: Boon
authors.forename: Grazia M S
authors.initials: GM
authors.lastname: Mancini
authors.forename: Marjo S
authors.initials: MS
authors.lastname: Van der Knaap
authors.forename: Bwee Tien
authors.initials: BT
authors.lastname: Poll-The
authors.forename: Dick
authors.initials: D
authors.lastname: Lindhout
mesh_terms: D000293:Adolescent; D000328:Adult; D001301:Audiometry, Pure-Tone; D002531:Cerebellum / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D002925:Ciliary Motility Disorders / Q000150:complications* / Q000235:genetics; D002658:Developmental Disabilities / Q000150:complications* / Q000235:genetics; D016057:Evoked Potentials, Auditory, Brain Stem; D005260:Female; D006314:Hearing Loss, Conductive / Q000150:complications* / Q000175:diagnosis; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008297:Male; D010033:Otitis Media / Q000150:complications; D013577:Syndrome; D055815:Young Adult