Self-reported sleep and breathing disturbances in Joubert syndrome.

Joubert syndrome is a rare autosomal recessive disease characterized by malformations of the cerebellar vermis, hypotonia, developmental delay, and respiratory variability. Because little is known about sleep and ventilatory dysregulation in this patient population, a questionnaire was distributed at the Joubert Syndrome and Related Disorders Foundation Conference. This questionnaire addressed respiratory and sleep abnormalities, and included the Pediatric Sleep Questionnaire. Parents or proxies completed questionnaires for patients unable to do so themselves because of young age or neurologic problems. Twenty surveys were collected. The median age was 8.3 years, and 45% were female. Seven patients (35%) reported existing episodic tachypnea, four (20%) reported apnea, and three (15%) reported both. Snoring was reported by 10 patients (50%), of whom four snored nightly and five had coexisting daytime tachypnea. Six of 14 (43%) Pediatric Sleep Questionnaire responders had scores suggestive of sleep-related breathing disorder. These results suggest that episodic tachypnea, apnea, snoring, and Pediatric Sleep Questionnaire scores suggestive of sleep-related breathing disorder are common in Joubert syndrome. Early detection and improved understanding of sleep and breathing abnormalities may contribute to improved outcomes for patients with Joubert syndrome.