0956 Sleep Health in Joubert Syndrome: Exploring Quality of Life and Associated Sleep Challenges

Abstract Introduction Joubert Syndrome and Related Disorders (JSRD) are a group of rare neurodevelopmental conditions characterized by congenital cerebellar and brainstem malformations, most notably the “molar tooth sign” on neuroimaging. Sleep disordered breathing (SDB) has been described in JSRD, but little data exist on non-respiratory disorders, despite frequent descriptions of restless sleep, insomnia, and altered sleep-wake cycles. The aim of this study was to use validated sleep questionnaires to start characterizing the full breadth of sleep disorders in individuals with JSRD and their caregivers. Methods Caregivers and/or participants with JSRD filled out on-line questionnaires including the Obstructive Sleep Apnea -18 (OSA-18), Childrens Sleep Habits Questionnaire (CSHQ), Pediatric Sleep Questionnaire (PSQ), PROMIS Sleep-Related Impairment, Morning-Eveningness Chronotype Questionnaire (MECQ), and provided demographic information, comorbidity profiles, and sleep study histories. SPSS was used to perform preliminary descriptive statistical analyses. Human subjects approval was obtained through the University of Washington. Results To date, 94 participants have completed the survey (mean age 14.5 ± 10.6, 40% Female). Fifty percent of participants reported having undergone a sleep study, and 33% reported a diagnosis of SDB. In contrast, 89%, 86% and 42% of respondents reported scores above clinical cutoffs for the OSA-18, PSQ , and CSHQ respectively, suggesting much higher rates of SDB. PROMIS scores showed sleep-related impairment in 62% of parents and 51% of participants (via parent proxy questionnaire). Beyond SDB disturbances, restless sleep (reported by 56% of participants), insomnia symptoms (67% of participants/caregivers reported trouble sleeping), and circadian dysregulation emerged as common contributors to elevated scores. Caregivers consistently reported significant negative impact on daytime behavior, attention, mood, and overall family functioning. Conclusion Individuals with JSRD exhibit high rates of sleep disturbance across multiple domains, with subjective measures identifying far more impairment than reflected in reported diagnostic rates of SDB. Restless sleep, insomnia, and circadian misalignment may be under-recognized contributors to morbidity. These findings highlight the need for improved clinical screening, targeted evaluation, and JSRD-specific treatment strategies, as well as continued enrollment in ongoing research efforts to better characterize sleep phenotypes in this population. Support (if any) MC: HRSAAT2T2MC007; WP: K08HL179396; DD: 5R01HD100730