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

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.

We describe the clinical course of 21 children with JS followed over 16 years in a tertiary pediatric hospital.

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.

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.