P046 Towards defining the sleep phenotype of children with neurofibromatosis type 1

Abstract Introduction Research involving drosophila highlight the role of the NF1 gene in regulating the sleep-wake cycle. Despite this, there remains limited knowledge about sleep in people who carry a mutation in the NF1 gene, also known as Neurofibromatosis type 1 (NF1). Methods The study aimed to characterise sleep disturbance and its impact in children with NF1. The sleep patterns of children with NF1 (n=93) and TD children (n=45) were compared using actigraphy, sleep diary, the Sleep Disturbance Scale (SDSC), Paediatric Sleep Questionnaire (PSQ) and neuropsychological assessment. Results SDSC indicated 59% of parents of children with NF1 and 32% of parents of controls reported sleep disturbances. The PSQ-derived PLMD and SDB scales identified suspected cases, with 5-6% of TD children and 38% and 30% of children with NF1 meeting the clinical thresholds for SDB and PLMD, respectively. Actigraphy showed children with NF1 had significantly longer sleep onset latency (p=.001), lower sleep efficiency (p=.002), and less total sleep time (p<.05). Correlation analysis in children with NF1 revealed significant links between SDB scores and sleep efficiency, reading, executive functions, depression, adaptive functioning, fatigue, and QoL (p<.01). PLMD scores were significantly correlated with pain, executive functioning, and QoL. Conclusion This study is the first to document abnormal sleep patterns in children with NF1 using actigraphy. Results highlight the significant sleep problems these children face and the need for clinicians to routinely screen for the presence of sleep disorders such as SDB or PLMD. Early intervention to improve sleep may improve sleep problems and functioning.