Sleep Disordered Breathing in Joubert Syndrome: Disease Spectrum in a Pediatric Cohort.

BACKGROUND: Joubert syndrome (JS) is a rare, autosomal recessive condition with multisystem manifestations. Sleep disordered breathing (SDB) is a prominent feature, with patients characteristically presenting with a mixture of hyperpnea and apnea. Reports describing whether the respiratory abnormalities change as patients grow older are lacking. METHODS: We describe the clinical course of 21 children with JS followed over 16 years in a tertiary pediatric hospital. RESULTS: Fourteen children underwent polysomnography, while 11 had multiple repeat studies. Patients exhibited a range of SDB, including obstructive sleep apnea which was amenable to conventional treatment. However, obstructive sleep apnoea worsened in one, and central sleep apnea persisted over time. CONCLUSIONS: Children with JS exhibit a range of SDB; however, not all are referred for sleep assessment. Our study contributes to the understanding and awareness of SDB in JS, a population who would benefit from ongoing screening and follow-up polysomnography.