Is hearing loss a feature of Joubert syndrome, a ciliopathy?

ObjectiveTo assess if hearing loss is a feature of Joubert syndrome (JBS), one of the ciliopathies and therefore possibly associated with hearing loss.DesignRetrospective case series.SettingUniversity Children's Hospital.PatientsDutch patients with JBS.Main outcome measuresAudiological data.ResultsData 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.ConclusionWe 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.