Is hearing loss a feature of Joubert syndrome, a ciliopathy?
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.
Kroes
Hester Y
HY
Dept. of Medical Genetics, University Medical Center Utrecht, The Netherlands. h.y.kroes@umcutrecht.nl
Van Zanten
Bert G A
BG
De Ru
Sander A
SA
Boon
Maartje
M
Mancini
Grazia M S
GM
Van der Knaap
Marjo S
MS
Poll-The
Bwee Tien
BT
Lindhout
Dick
D
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