0787 Sleep Problems and Sleep Disorders in Children with Rubinstein-Taybi Syndrome

Abstract

Abstract Introduction Rubinstein-Taybi syndrome (RSTS) is a genetic condition which characterized by distinctive facial features, broad and angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. Sleep problems have been reported in children with RSTS. However, most studies were case reports in adult population. There is limited information on details about sleep problems in children with RSTS. The purpose of this study was to: (1.) Describe the demographics, clinical presentation of children with RSTS; (2.) Describe polysomnographic findings, sleep diagnoses and treatments of children with RSTS. Methods A retrospective study was performed in patients with RSTS (ages 0-20 years) who underwent polysomnography at Cincinnati Children’s Hospital Medical Center from January 1, 2000 to October 31, 2022. Demographics, clinical presentation, polysomnographic findings, diagnoses and treatments were reviewed. Descriptive statistics were utilized. Results Thirteen children with RSTS were included, 69% were male (N=9). The median age was 6.3 years (range 13 days to 12.6 years). The most common presenting symptoms included snoring (N=9, 69.2%), pauses of breathing (N=6, 46.2%) and nighttime awakenings (N=5, 38.5%). The age of onset of sleep symptoms ranged from birth to 5 years. From polysomnographic findings, the most common diagnosis was obstructive sleep apnea (OSA) (N=11, 84.6%) with obstructive apnea-hypopnea index ranging from 2.8 to 72.7/h, (mild, N=3; moderate, N=3; severe; N=5). All children with mild OSA (N=3) were treated with medications, while children with moderate-to-severe OSA were managed with PAP therapies (N=4), supplemental oxygen (N=3), and surgeries (N=3). Other diagnoses included central sleep apnea (N=2) and periodic limb movement disorder (N=2), which were treated with supplemental oxygen and iron supplements, respectively. Conclusion The most common presenting sleep symptoms in children with RSTS were snoring, pauses of breathing and nighttime awakening. The age of onset of symptoms was variable, but usually occurred during infancy through childhood. OSA was the most common diagnosis in these populations. Physicians should recognize the early signs and symptoms of sleep problems in children with RSTS to allow early diagnosis and appropriate treatment. Support (if any) Cincinnati Children's Hospital Research Fund