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Sleep in Special Populations: Genetic Syndromes
Book chapter

Sleep in Special Populations: Genetic Syndromes

Likhita Shaik, Janey Dudley, Daniel Rongo, Elisa Basora and Anna Wani
Sleep Disorders in Children: A Primer for Primary Care Providers, pp.167-176
Springer
2025
DOI: 10.1007/978-3-031-92166-7_16

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Abstract

Sleep disturbances are highly prevalent in children with genetic syndromes, and they significantly impact their cognitive, psychosocial, and physical health. Patients with Down syndrome frequently experience obstructive sleep apnea (OSA) due to anatomical factors like macroglossia and midfacial hypoplasia, while syndromes such as Prader-Willi syndrome affect sleep by anatomical and central mechanisms, driven by neuromuscular hypotonia and hypothalamic dysfunction. In neurodevelopmental disorders such as Angelman syndrome and Fragile X syndrome, sleep architecture is disrupted by fragmentation, leading to insomnia, frequent awakenings, and diminished REM sleep. Circadian rhythm disturbances due to abnormal melatonin secretion patterns are profound in Smith-Magenis syndrome. Such sleep quality and sleep pattern changes impact the daytime behavior of the affected populations. Hence, management of such sleep disorders in these special population entails behavioral interventions, pharmacologic therapies like melatonin and CPAP for OSA, and, in severe cases, surgical interventions. Understanding the specific sleep issues associated with such conditions is essential to optimize sleep quality and improve quality of life.
 Down Syndrome Angelman syndrome Craniofacial abnormalities Genetic syndromes Neurodevelopmental dysfunction Obstructive sleep apnea Pediatric sleep disorders Prader-Willi syndrome Smith-Magenis syndrome

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