0886 Sleep Disturbances and Coffin-Siris Syndrome

Abstract Introduction Coffin-Siris Syndrome (CSS) is a rare congenital syndrome characterized by craniofacial dysmorphology, feeding and respiratory difficulties, hypotonia, and cognitive impairment. Sleep disturbances are a common concern for families, but no systematic description of sleep has been published. Our aim for this study was to provide an initial characterization of sleep disturbances in those with CSS. Methods Caregivers of children with CSS filled out online questionnaires including the Obstructive Sleep Apnea -18 (OSA-18), Children’s Sleep Habits Questionnaire (CSHQ), Pediatric Sleep Questionnaire (PSQ), and PROMIS Sleep-Related Impairment and Sleep Disturbances. Collection was from July – September of 2025. Preliminary descriptive statistical analyses were done. Human subjects’ approval was obtained through Seattle Children’s Hospital with parental consent. Results There were 49 participants self-identified caregivers of children with CSS. Children were an average of 7.6  4.9 years, with 47% male, 84% white, 18% Hispanic. Most common genetic mutation involved ARID1B which was present in 53%. 94% of respondents had an OSA-18 score >36 suggesting at least mild impairment, while 22% scored >81, consistent with severe impact. 62% scored above the clinical cutoff of 8 on the PSQ. 55% scored above the clinical cutoff of 41 on the CSHQ total score, with reported concerns for insomnia (sleeping too little, waking at least once overnight) happening 2 or more times a week in 50-71% of respondents. 86% reported restlessness and frequent moving during sleep at least 2 times a week, and 45% reported it occurred between 5-7 nights/week. Difficulty getting up in the morning and child seeming tired were also common 2 or more times per week in 48% and 64% respectively. 43% reported at least one prior sleep study being obtained. Parent-reported sleep disturbances and sleep-related impairment were high, with 92% and 88% reporting some degree of negative impact on quality of life. Conclusion Caregivers report high rates of sleep disordered breathing, restless sleep and insomnia symptoms in children with CSS, with significant impairments to quality of life. These findings highlight the need for improved clinical screening and treatments for sleep disorders in those with CSS. Support (if any) MC:HRSA A2T2MC0007; WP:NIH K08HL179396; SV: Coffin-Siris Syndrome Foundation