An exploratory study of sleep quality and quantity in children with causal variants in SYNGAP1,an autism risk gene

Study objectives

Sleep disturbances are reported in 62% of children with SYNGAP1-Intellectual Disability (SYNGAP1-ID), a rare neurodevelopmental disorder characterized by intellectual disability, epilepsy, autism spectrum disorder (ASD), sensory and behavioral challenges. Although Children’s Sleep Habits Questionnaire (CSHQ) scores are elevated in children with SYNGAP1-ID factors that predict sleep disturbance are not well understood. The goal of this study is to identify predictors of sleep problems.

Methods

Parents of 21 children with SYNGAP1-ID completed questionnaires, and 6 children wore the Actiwatch2 for 14 continuous days. Non-parametric analysis of psychometric scales and actigraphy data were performed. Actigraphy derived sleep parameters were compared to controls and rest activity rhythms were assessed using arctools an open-source R package.

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