Posted June 3, 2024

Natalie Pride, Ph.D., Sydney Children's Hospital, Australia

Adequate sleep in childhood is essential for health, physical and intellectual growth, and normal development. Sleep disorders are a common phenotype associated with many genetic disorders, including Neurofibromatosis type 1, or NF1.

A growing body of research involving animal models of NF1 suggests abnormal circadian functioning may underlie sleep problems in NF1.

Little is known about the degree to which circadian rhythm abnormalities and other biopsychosocial risk factors affect sleep in children with NF1

Furthermore, we have limited knowledge regarding the frequency of sleep disorders in these children. Identification of the factors that potentially contribute to sleep disorders in NF1 patients is vital for enabling appropriate intervention.

With support from the Neurofibromatosis Research Program and a fiscal year 2018 New Investigator Award, Natalie Pride, Ph.D., of Sydney Children's Hospital, aims to characterize the nature and extent of sleep disturbance in children with NF1. In this cross-sectional, multi-site study, Pride and her team employed subjective and objective measures of sleep, including comprehensive sleep and medical history, neuropsychological assessment, sleep and behavior questionnaires, and a sleep diary.

The investigators enrolled 115 children with NF1 and 40 typically developing children across two sites and collected data over a 7-day period. Preliminary analyses suggest that 46% of participants with NF1 experience sleep disturbance of some variety. These disturbances include initiating and maintaining sleep, disordered breathing during sleep, disorders of arousal, excessive drowsiness and night sweats.

The investigating team also observed a correlation between sleep disturbances and autism traits, ADHD symptoms, fatigue, pain and depressive symptoms. Some children with NF1 showed an association of sleep disturbances with problems in reading and spelling.

This study offers novel insight into the frequency of sleep disturbance and disorders and aims to identify the biopsychosocial and contextual factors contributing to poor sleep in NF1, in turn maximizing the clinical impact of future intervention studies and guiding future patient management. Additionally, the phenotyping data arising from this study represents the first step toward identifying distinct subtypes of sleep disorders in children with NF1.

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