title: Disturbances in cardiorespiratory function during day and night in Rett syndrome.
abstract: Rett syndrome causes severe autonomic dysregulation, probably due to brainstem dysfunction. Because the brainstem plays a decisive role in cardiorespiratory regulation during sleep, we investigated cardiorespiratory function in 12 girls with Rett syndrome, day and night, for 1 week in their home environment. Heart rate and breathing were recorded via standard three-lead electrocardiogram. Depth and frequency of respiratory movements were measured via changes in impedance. All children were scored clinically, and the association with cardiorespiratory function was examined. The total recording time for all patients was 1114 hours (535 during wakefulness; 579 during sleep), and 77 +/- 22 hours (median +/- standard error of the mean) per individual. All subjects manifested apnea, shallow breathing, or hypoventilation, when awake and during sleep. A majority had bradycardia or tachycardia. The frequencies of respiratory and heart alarms were similar during wakefulness and sleep. Bradycardia events predominated during sleep. The only significant correlation between clinical score and cardiorespiratory regulation was found for muscular-skeletal function and breathing abnormalities during wakefulness. We conclude that Rett syndrome is characterized by disturbed breathing and heart rate during sleep. The severity of cardiorespiratory dysfunction exhibited marked intra- and interindividual differences.
authors.affiliation: Neonatal Unit Q2:09, Department of Woman and Child Health, Astrid Lindgren Children's Hospital, Karolinska Institutet, Stockholm, Sweden. Malin.Rohdin@ki.se
authors.forename: Malin
authors.initials: M
authors.lastname: Rohdin
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Fernell
authors.forename: Maud
authors.initials: M
authors.lastname: Eriksson
authors.forename: Margareta
authors.initials: M
authors.lastname: Albåge
authors.forename: Hugo
authors.initials: H
authors.lastname: Lagercrantz
authors.forename: Miriam
authors.initials: M
authors.lastname: Katz-Salamon
mesh_terms: D000293:Adolescent; D000328:Adult; D001049:Apnea / Q000209:etiology; D002648:Child; D005260:Female; D006331:Heart Diseases / Q000209:etiology*; D006334:Heart Function Tests / Q000379:methods; D006339:Heart Rate / Q000502:physiology; D006801:Humans; D010507:Periodicity; D017286:Polysomnography / Q000379:methods; D012120:Respiration Disorders / Q000209:etiology*; D015518:Rett Syndrome / Q000150:complications*; D018709:Statistics, Nonparametric; D013997:Time Factors