0800 Evaluation of the Sleep Profile in Children with Cri Du Chat Syndrome: A Pilot Study

Introduction Cri du Chat (CDC) syndrome is a rare genetic condition caused by the deletion of the short arm of chromosome 5, and it affects 1:50,000 live births. It is characterized by global delay in neuropsychomotor development, frequent behavioral alterations, and complaints of sleep fragmentation. The prevalence of sleep problems in CDC syndrome varies from 12 to 64%. So far, it is not completely established whether there is a higher prevalence of sleep disorders in individuals with this syndrome compared to the 20-30% prevalence in neurotypical (NT) children. Methods This is a pilot study in which the Sleep Disturbance Scale for Children questionnaire was applied to parents (or caregivers) of 11 patients with CDC syndrome and 11 age-matched NT individuals (controls) to determine the profile of sleep quality in the cohort. In the CDC group, inclusion criteria involved the availability of the molecular array exam, confirming the diagnosis of CDC syndrome. Results Sixty eight percent of the sample was male, and the age of participants ranged from 2 to 31 years. Daytime sleepiness, difficulty in falling asleep again after waking up during the night and awakenings during the night were significantly more frequent in the CDC group (p=0.025, 0.0004 and 0.027, Chi-squared test, respectively). No significant differences between groups were observed in relation to total sleep time, sleep latency and bed resistance. Our preliminary data showed that wake after sleep onset is 2.5x more frequent in CDC patients than in NT. Conclusion Our pilot study showed that CDC group presented worse sleep parameters in comparison to NT controls. Awakenings during the night and the presence of daytime sleepiness in the CDC group may be a manifestation of non-restorative sleep in this population. Better documenting the prevalence and profile of sleep disorders in this syndrome will allow the improvement of the challenging behavioral issues frequently observed in this condition. The increase in the number of participants in this study will certainly deeper characterize the sleep disturbances in these patients. Further clinical trials will be critical to develop more individualized treatment strategies to individuals with CDC syndrome. Support (if any) AFIP, CNPq, FAPESP.