Central sleep apnoea in Rett syndrome.
Breathing disturbances in Rett syndrome were reported almost entirely during wakefulness, with normal respiration during sleep. We studied a case of a proven MECP2 mutation in a girl, whose videopolygraphic and polysomnographic monitoring suggested the evidence of central apnoeas not only during awake, but also during sleep. Apart from prevalent awake respiratory dysfunction, central apnoeas in Rett syndrome may be also present during sleep.
d'Orsi
Giuseppe
G
Epilepsy Center, Neurological Unit, Casa Divina Provvidenza, Opera Don Uva, Via Bovio 78, 70052, Bisceglie (BAT), Italy. giudorsi@yahoo.it
Demaio
Vincenzo
V
Scarpelli
Francesco
F
Calvario
Teresa
T
Minervini
Mauro G
MG
D002675:Child, Preschool; D004569:Electroencephalography / Q000379:methods; D004576:Electromyography / Q000379:methods; D005260:Female; D006801:Humans; D015518:Rett Syndrome / Q000150:complications*; D020182:Sleep Apnea, Central / Q000209:etiology*; D014851:Wakefulness / Q000502:physiology