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Williams Syndrome

  • Paige Kaplan
  • Thornton B. A. MasonIIEmail author
Chapter

Abstract

Williams syndrome (Williams-Beuren syndrome, or WBS) is a congenital disorder caused by deletions of multiple contiguous genes on the long arm of one chromosome 7 (del 7q11.23). There is a distinctive pattern of developmental delays, personality and behavior, physical phenotype, and multiorgan involvement. Sleep problems in children with Williams syndrome are supported by many studies, including research using questionnaires, actigraphy, overnight polysomnography, electroencephalographic (EEG) spectral analysis, and endocrine markers. Frequently reported sleep disturbances in Williams syndrome include sleep anxiety, prolonged sleep latency, and frequent night wakings. Polysomnography studies have shown decreased sleep efficiency, increased wake after sleep onset, and the intriguing feature of increased slow-wave (N3) sleep in subjects with Williams syndrome compared to typically developing controls. EEG studies support spectral power changes that are altered characteristically in Williams syndrome, and other work indicates abnormalities in melatonin and cortisol could contribute to disrupted sleep. In the future, it will be critical to determine what sleep patterns may indeed be unique to Williams syndrome versus non-specific changes seen more broadly in other populations of children with neurodevelopmental disabilities.

Keywords

Williams syndrome Actigraphy Overnight polysomnography Electroencephalography Melatonin Sleep efficiency 

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Genetics Division, Department of PediatricsChildren’s Hospital of PhiladelphiaPhiladelphiaUSA
  2. 2.Departments of Neurology and PediatricsPerelman School of Medicine at the University of PennsylvaniaPhiladelphiaUSA
  3. 3.Division of NeurologyChildren’s Hospital of PhiladelphiaPhiladelphiaUSA

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