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Prader-Willi Syndrome

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Sleep in Children with Neurodevelopmental Disabilities

Abstract

Prader-Willi syndrome (PWS) is a complex neurogenetic disorder resulting from a silencing of paternally contributed genes on chromosome #15 – q11.2–q13 – with an estimated incidence of 1/10,000–1/25,000 live births. The clinical phenotype and course of the disorder vary over time. Infancy and early childhood are characterized by infantile hypotonia, often accompanied by feeding difficulties and failure to thrive, an abnormal body composition including a markedly reduced muscle mass, facial and body dysmorphisms, hypogonadism, and developmental issues. Between 2 and 3 years of age, significant changes in fat distribution precede an abnormally escalating food intake that can result in morbid, occasionally life-threatening obesity coupled with short stature and endocrinopathies. Cognitive impairments and characteristic learning difficulties become evident in early childhood, accompanied by emergent behavior difficulties that increase across time, with a particular escalation noted in early adolescence.

Sleep-disordered breathing is present across the life span with both reduced arousal responses and central apneas occurring more frequently in infants and excessive daytime sleepiness among those school-aged and older. Independent of weight status, central sleep issues may be accompanied by obstructive apnea. All sleep issues are worsened in the context of obesity or enlarged tonsils and adenoids. This chapter reviews the multiple sources and management of disordered sleep and sleep-disordered breathing in this population.

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Author information

Authors and Affiliations

  1. Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, MO, USA

    Barbara Y. Whitman

  2. Clinical Pediatrics, Stony Brook University School of Medicine, Stony Brook, NY, USA

    Mary E. Cataletto

  3. Pediatric Pulmonology and Sleep Medicine, NYU – Winthrop Hospital, Mineola, NY, USA

    Mary E. Cataletto

Authors
  1. Barbara Y. Whitman
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  2. Mary E. Cataletto
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Correspondence to Barbara Y. Whitman .

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Editors and Affiliations

  1. Departments of Pediatrics and Neurology, Virginia Commonwealth University School of Medicine, Richmond, VA, USA

    Jennifer A. Accardo

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Whitman, B.Y., Cataletto, M.E. (2019). Prader-Willi Syndrome. In: Accardo, J. (eds) Sleep in Children with Neurodevelopmental Disabilities. Springer, Cham. https://doi.org/10.1007/978-3-319-98414-8_16

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  • DOI: https://doi.org/10.1007/978-3-319-98414-8_16

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  • Online ISBN: 978-3-319-98414-8

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