0892 Sleep Abnormalities in Cornelia De Lange Syndrome

Abstract Introduction Cornelia de lange is an autosomal dominant disorder (when associated with NIPBL, RAD21, or SMC3 genes) with an incidence of 1:10,000 to 1:50,000 live births, patients affected are known to have a wide variety of sleep disorders, those range from insomnia and abnormal circadian cycle to sleep disordered breathing and hypoventilation. The exact etiology of increased risk of sleep-disordered breathing in patients affected is not fully understood. It is possible that some facial features in these patients expose them to a higher risk (micrognathia, high arched palate, and short neck). We wanted to analyze the sleep related problems in CDLS. Methods We included 3 patients with the disorder, age range from 15 months to 16 years old. All patients met criteria for CDLS diagnosis, all had intellectual disability and behavioral associated symptoms. The somnology evaluation included questionnaires of diurnal behavior and sleep focused logs. We performed nocturnal polysomnography in only 2 patients due to inability to tolerate the test in one case. Results Sleep clinical information was abnormal in all the cases. Overnight behavioral video evaluation was done. The behavioral abnormalities were evident in all subjects and severe in one. Overnight polysomnography demonstrated a moderate to severe degree of OSA, delayed sleep onset suggestive of insomnia, sleep-wake transition disorder with elevated WASO time, and arousal disorder with elevated spontaneous arousal index. It is of interest the finding of sleep related hypoxemia with limited evidence of obstructive component in one patient. Conclusion The abnormalities in sleep are frequent in CDLS, there are wide and present in the sleep architecture and the sleep ventilation, sleep apnea syndromes are frequent but are not the only major sleep-related abnormalities. When CDLS is caused by mutations in the HDAC8 or SMC1A gene, the condition has an X-linked dominant pattern inheritance. Most cases result from new mutations in the HDAC8 or SMC1A gene and occur in people with no history of the condition in their family, likely our cases are related to this mode of transmission and potential different patters of sleep disruption are dependent on different genes involved. Support None