Sleep disorders in Rett syndrome: a clinical study – polysomnography.

Reference:
11_ Vignoli

Abstract:
The girls with RS, in analogy to what happens in other conditions of neurological disability, frequently have sleep disorders, mainly investigated through the use of questionnaires, being affected by specific sleep abnormalities characterized by intrusion of behavioral episodes such as laughing or screaming, sonniloquio, sleepwalking, bruxism and night terrors. There are also frequent seizures morfeiche as well as alterations in the circadian control of the sleep-wake rhythm with the presence of daytime sleep, nighttime awakenings, and lack of physiological decrease in hours of daytime sleep and total. Some studies in the literature report an alteration in the control of muscle tone during sleep, NREM and REM, potentially associated with phenomena such as parasonnici REMsleep behavior disorder (RBD), characterized by the presence of behaviors such dream acted associated with loss of the physiological muscle atonia during REM sleep episode in conjunction with a dream. Also in the RS as well as in Parkinson’s disease, which presents high prevalence of RBD, is shown an alteration of the dopaminergic system and the presence of a motility more fluent, so ictal, during sleep compared to what happens during the voluntary activation in wakefulness. It therefore seems reasonable to assume that even in the RS is observed a high prevalence of RBD. Objectives It might be useful to define the epidemiological dimension of this condition in order for a correct differential diagnosis of paroxysmal events in character emerging during sleep, resulting in the possibility of establishing a targeted drug treatment. In addition, the sleep study of these subjects could provide important information on the pathophysiology of RS, with implications extended to include other areas such as cardio-respiratory and autonomic control.

PROJECT DETAILS 

beginning: 2008.

end: 2010.

Country of research: Italy

Counry of funding source: Italy

Funding organization: AIRETT

Financing: PRIVATE FUNDERS – 50 000 €

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