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Dublin Core
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Title
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Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
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<a href="http://doi.org/10.1007/s11325-012-0654-x" target="_blank" rel="noreferrer noopener">http://doi.org/10.1007/s11325-012-0654-x</a>
Dublin Core
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Title
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Polysomnographic findings in Rett syndrome: a case-control study
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Sleep & Breathing
Date
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2013
Subject
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Case-Control Studies; Child; Humans; Female; Reference Values; Sleep; Polysomnography; Signal Processing Computer-Assisted; Sleep REM; Rett Syndrome; Cerebral Cortex; Wakefulness; breathing difficulties; sleep disturbance; tone and motor problems; Rett syndrome; trajectory; characteristics; periodic limb movement; obstructive apnea
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Carotenuto M; Esposito M; D'Aniello A; Rippa C D; Precenzano F; Pascotto A; Bravaccio C; Elia M
Description
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PURPOSE: Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and usually linked to mutations in the methyl-CpG-binding protein 2 gene, with an estimated prevalence of 1 in 10,000 live female births. Clinical features which usually become more apparent over time include breathing dysfunction, seizures, spasticity, peripheral vasomotor disturbance, scoliosis, growth retardation, and hypotrophic feet, with a great variety of presentations. The clear immaturity in brainstem mechanisms is expressed by the presence of early sleep disorders such as nocturnal awakenings, bruxism, and difficulty falling asleep, and no conclusive findings were derived from the few polysomnographic studies about the sleep macrostructural aspects. The aim of this study is to analyze the sleep macrostructural parameters, the nocturnal respiratory characteristic, and the presence of periodic limb movements in a sample of children affected by Rett syndrome. MATERIALS: Thirteen Rett subjects underwent a polysomnographic study, and the findings were compared with those obtained by a group of 40 healthy children. RESULTS: The Rett group shows a great impairment in sleep macrostructural and respiratory parameters, with a higher percentage of pathological periodic limb movements than the controls. CONCLUSIONS: This study may be considered a report about the ventilatory impairment during sleep in Rett syndrome and the first approach to the macrostructural aspects of sleep supported by the PSG data that could be considered mandatory for a better comprehension of this very complex syndrome.
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<a href="http://doi.org/10.1007/s11325-012-0654-x" target="_blank" rel="noreferrer noopener">10.1007/s11325-012-0654-x</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
2013
Bravaccio C
breathing difficulties
Carotenuto M
Case-Control Studies
Cerebral Cortex
characteristics
Child
D'Aniello A
Elia M
Esposito M
Female
Humans
obstructive apnea
Pascotto A
periodic limb movement
Polysomnography
Precenzano F
Reference Values
Rett syndrome
Rippa C D
Signal Processing Computer-Assisted
Sleep
Sleep REM
Sleep & Breathing
sleep disturbance
tone and motor problems
Trajectory
Wakefulness