Profiles of sleep disturbances in Angelman, Prader-Willi, and Rett syndromes: analysis of standardized questionnaires.

Introduction: Individuals with neurodevelopmental disorders (NDDs) are at increased risk of having sleep difficulties. A variety of sleep problems have been reported in Angelman syndrome (AS), Prader-Willi syndrome (PWS), and Rett syndrome (RTT). The present study intended to expand an earlier characterization of sleep difficulties in a large AS, PWS, and RTT sample by analyzing subscales of standardized sleep questionnaires. Methods: Scores from children (2-18 years) with AS ( Results: Comparisons with neurotypical children showed that night waking and snoring were increased in the three NDDs while parasomnias and daytime sleepiness only in AS and RTT. Children with RTT also had the highest scores on measures of disordered breathing. At the 12-month follow-up, scores decreased in neurotypical children but had variable courses in the NDDs, with increased disordered breathing scores characterizing AS and RTT. There was high agreement among disordered breathing measures, but not among daytime sleepiness scales. Overall, CSHQ scores were relatively stable within NDDs. Conclusion: Sleep questionnaires revealed disorder-specific profiles of sleep problems that could assist in their identification and management. The CSHQ and the SRBD, including their subscales, appear to be consistent measures particularly for sleep-disordered breathing and, therefore, suitable for clinical and research use in severe NDDs. Follow-up studies should expand the range of instruments to include objective measures in the characterization of sleep abnormalities in AS, PWS, and RTT.