1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-8-72-a 10.15844/pedneurbriefs-8-9-13 Rett Syndrome Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Polysomnography in Rett Syndrome http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 09 1994 01 06 2016 8 9 72 72 Copyright: © 1994 The Author(s) 1994 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Polysomnographic characteristics of patients with Rett syndrome

Respiratory patterns, awake and asleep, were investigated by polysomnography in 30 female patients with Rett syndrome and compared with 30 controls at the Eudowood Division of Pediatric Respiratory Sciences, Johns Hopkins University, and the Department of Neurology, Kennedy Krieger Institute, Baltimore, MD.

 Polysomnography Rett Syndrome Cortical Dysfunction

Respiratory patterns, awake and asleep, were investigated by polysomnography in 30 female patients with Rett syndrome and compared with 30 controls at the Eudowood Division of Pediatric Respiratory Sciences, Johns Hopkins University, and the Department of Neurology, Kennedy Krieger Institute, Baltimore, MD. The median age was 7 years (range, 1 to 32 years). During wakefulness, 67% of RS patients had a characteristic pattern of disordered breathing (hyperventilation followed by central apnea and desaturation). Breathing was normal during sleep. Arterial oxygen saturation during REM sleep was slightly lower in RS cf controls but within normal range. The authors postulate a normal brain-stem control of ventilation in RS and an abnormality or loss of the normal cortical influence on ventilation during wakefulness. The precise cause of the cortical dysfunction is unknown. [1]

COMMENT. Patients with Rett syndrome have normal respiration during non-REM sleep, slightly abnormal breathing in REM sleep, and markedly disturbed breathing during wakefulness. The hyperventilation is attributed to a cortical dysfunction.

 Marcus CL Naidu S Carroll JL McColley SA Loughlin GM Curtis S Polysomnographic characteristics of patients with Rett syndrome J Pediatr 1994 Aug 125 2 218 224 10.1016/S0022-3476(94)70196-2 8040765