Abstract
Caregivers of preschool and elementary school age children with Smith–Magenis syndrome (SMS), MBD5-associated neurodevelopmental disorder (MAND), and Pitt–Hopkins syndrome (PTHS) were surveyed to assess sleep disturbance and to identify disorder-specific sleep problems. Because of overlapping features of these rare genetic neurodevelopmental syndromes, data were compared to reports of sleep disturbance in children with autism spectrum disorder (ASD). While similarities were observed with ASD, specific concerns between disorders differed, including mean nighttime sleep duration, daytime sleepiness, night wakings, parasomnias, restless sleep, and bedwetting. Overall, sleep disturbance in PTHS is significant but less severe than in SMS and MAND. The complexity of these conditions and the challenges of underlying sleep disturbance indicate the need for more support, education, and ongoing management of sleep for these individuals.
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Acknowledgements
The authors are very thankful for all of the families who participated in this study, without whom this would not have been possible. We would also like to thank Ryan Turner, Dianne Samad, Sian Behrandt-McLeroy, Maricela Ramirez, and Theresa Wilson for technical assistance, as well as PRISMS, the Pitt-Hopkins Research Foundation and their associated Facebook groups, and the MAND Facebook group for facilitating distribution of surveys.
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AG and SHE conceptualized and designed the study. SHE supervised data collection. MF and EC desigend and reviewed surveys and data. AG and DZ conducted the analyses, and AG analyzed the data and drafted the initial manuscript. JA and SHE critically reviewed and edited the manuscript, and all authors approved the final manuscript as submitted.
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Gandhi, A., Zhou, D., Alaimo, J. et al. Composite Sleep Problems Observed Across Smith–Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt–Hopkins Syndrome, and ASD. J Autism Dev Disord 51, 1852–1865 (2021). https://doi.org/10.1007/s10803-020-04666-2
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DOI: https://doi.org/10.1007/s10803-020-04666-2