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Sleep disorders in Prader-Willi syndrome, evidence from animal models and humans
- Publication Year :
- 2021
- Publisher :
- W.B. Saunders Ltd, 2021.
-
Abstract
- Prader-Willi Syndrome (PWS) is a complex genetic disorder with multiple cognitive, behavioral and endocrine dysfunctions. Sleep alterations and sleep disorders such as Sleep-disordered breathing and Central disorders of hypersomnolence are frequently recognized (either isolated or in comorbidity). The aim of the review is to highlight the pathophysiology and the clinical features of sleep disorders in PWS, providing the basis for early diagnosis and management. We reviewed the genetic features of the syndrome and the possible relationship with sleep alterations in animal models, and we described sleep phenotypes, diagnostic tools and therapeutic approaches in humans. Moreover, we performed a meta-analysis of cerebrospinal fluid orexin levels in patients with PWS; significantly lower levels of orexin were detected in PWS with respect to control subjects (although significantly higher than the ones of narcoleptic patients). Sleep disorders in humans with PWS are multifaceted and are often the result of different mechanisms. Since hypothalamic dysfunction seems to partially influence metabolic, respiratory and sleep/wake characteristics of this syndrome, additional studies are required in this framework.
- Subjects :
- Pulmonary and Respiratory Medicine
Sleep Wake Disorders
congenital, hereditary, and neonatal diseases and abnormalities
CSA
Excessive daytime sleepiness
Hypersomnolence
Hypothalamus
Narcolepsy
Orexin
OSA
Prader Willi Syndrome
SDB
Disorders of Excessive Somnolence
Bioinformatics
03 medical and health sciences
0302 clinical medicine
Sleep Apnea Syndromes
Physiology (medical)
Medicine
Animals
Humans
business.industry
Genetic disorder
nutritional and metabolic diseases
Cognition
medicine.disease
Sleep in non-human animals
Comorbidity
Pathophysiology
nervous system diseases
030228 respiratory system
Neurology
Models, Animal
Neurology (clinical)
medicine.symptom
business
Prader-Willi Syndrome
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....548beea4ff5dde2778fb271955c365a2