Polysomnographic findings in Rett syndrome: a case–control study

• Published in: Sleep & breathing Vol. 17; no. 1; pp. 93 - 98
• Main Authors: Carotenuto, Marco, Esposito, Maria, D’Aniello, Alfredo, Rippa, Carmen Donatella, Precenzano, Francesco, Pascotto, Antonio, Bravaccio, Carmela, Elia, Maurizio
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer-Verlag 01.03.2013; Springer; Springer Nature B.V
• Subjects: Biological and medical sciences; Case studies; Case-Control Studies; Cerebral Cortex - physiopathology; Child; Dentistry; Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes; Female; Fundamental and applied biological sciences. Psychology; Humans; Internal Medicine; Medical sciences; Medicine; Medicine & Public Health; Nervous system (semeiology, syndromes); Neurology; Original Article; Otorhinolaryngology; Pediatrics; Pneumology/Respiratory System; Polysomnography; Reference Values; Rett Syndrome - diagnosis; Rett Syndrome - physiopathology; Signal Processing, Computer-Assisted; Sleep - physiology; Sleep apnea; Sleep, REM - physiology; Sleep. Vigilance; Tumors of the nervous system. Phacomatoses; Vertebrates: nervous system and sense organs; Wakefulness - physiology; Periodic limb movements; Obstructive sleep apnoea; Polysomnography; Central sleep apnoea; Rett syndrome; Nervous system diseases; Sleep apnea syndrome; Respiratory disease; Sleep disorder; Case control study; Genetic disease; Cerebral disorder; Sleep; Central nervous system disease; Degenerative disease; Sleep wake cycle; Neurological disorder
• ISSN: 1520-9512; 1522-1709; 1522-1709
• DOI: 10.1007/s11325-012-0654-x

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.