Alessandro Amaddeo1, Livio De Sanctis2, Jorge Olmo Arroyo2, Sonia Khirani3, Nadia Bahi-Buisson4, Brigitte Fauroux5. 1. Pediatric Noninvasive Ventilation and Sleep Unit, AP-HP, Hôpital Necker-Enfants Malades, Paris, France; Paris Descartes University, Paris, France; Research Unit INSERM U 955, Team 13, Créteil, France. Electronic address: alessandro.amaddeo@aphp.fr. 2. Pediatric Noninvasive Ventilation and Sleep Unit, AP-HP, Hôpital Necker-Enfants Malades, Paris, France. 3. Pediatric Noninvasive Ventilation and Sleep Unit, AP-HP, Hôpital Necker-Enfants Malades, Paris, France; ASV Santé, Gennevilliers, France. 4. Paris Descartes University, Paris, France; Pediatric Neurology Departement, AP-HP, Hôpital Necker-Enfants Malades, Paris, France. 5. Pediatric Noninvasive Ventilation and Sleep Unit, AP-HP, Hôpital Necker-Enfants Malades, Paris, France; Paris Descartes University, Paris, France; Research Unit INSERM U 955, Team 13, Créteil, France.
Abstract
INTRODUCTION: Rett syndrome (RS) is a severe neurodevelopment disorder associated with abnormal breathing during wakefulness and disturbed nocturnal behaviour. Breathing abnormalities during daytime have been extensively reported but polysomnographic (PSG) findings have been poorly studied. MATERIALS AND METHODS: Consecutive patients with RS carrying distinct mutations in MECP2 gene, who underwent a PSG between October 2014 and January 2018, were included in the study. Clinical and PSG data were collected. RESULTS: Seventeen RS girls, mean age 9.5 ± 2.8 years, were included in the study. Mean total sleep time was 366 ± 102 min. Mean sleep efficiency was reduced (66 ± 19%) with only 3 girls presenting a sleep efficiency above 80%. Wake after sleep onset was increased (33 ± 20%) with an arousal index of 7 ± 6 events/hour. Sleep stages were altered with a normal N1 (2 ± 3%), a decreased N2 (34 ± 20%), an increase of N3 (51 ± 23%) and a decrease of REM sleep (12 ± 9%). Mean apnea hypopnea index (AHI) was increased at 19 ± 37 events/hour, with a predominance of obstructive events. Thirteen patients had an AHI > 1.5 event/hour. Four patients had an obstructive AHI >10 events/hour with one patient having associated tonsillar hypertrophy. Two patients had predominant severe central apneas (central AHI 53 and 132 events/hour) which resolved with noninvasive ventilation and nocturnal oxygen therapy respectively. CONCLUSION: Girls with RS have poor sleep quality with alterations in slow wave and REM sleep stages. Obstructive respiratory events are uncommon in patients without adenotonsillar hypertrophy. Central respiratory events are rare. Longitudinal studies should help understanding the natural history of sleep disturbances in RS and their relationship with the neurocognitive decline.
INTRODUCTION:Rett syndrome (RS) is a severe neurodevelopment disorder associated with abnormal breathing during wakefulness and disturbed nocturnal behaviour. Breathing abnormalities during daytime have been extensively reported but polysomnographic (PSG) findings have been poorly studied. MATERIALS AND METHODS: Consecutive patients with RS carrying distinct mutations in MECP2 gene, who underwent a PSG between October 2014 and January 2018, were included in the study. Clinical and PSG data were collected. RESULTS: Seventeen RS girls, mean age 9.5 ± 2.8 years, were included in the study. Mean total sleep time was 366 ± 102 min. Mean sleep efficiency was reduced (66 ± 19%) with only 3 girls presenting a sleep efficiency above 80%. Wake after sleep onset was increased (33 ± 20%) with an arousal index of 7 ± 6 events/hour. Sleep stages were altered with a normal N1 (2 ± 3%), a decreased N2 (34 ± 20%), an increase of N3 (51 ± 23%) and a decrease of REM sleep (12 ± 9%). Mean apnea hypopnea index (AHI) was increased at 19 ± 37 events/hour, with a predominance of obstructive events. Thirteen patients had an AHI > 1.5 event/hour. Four patients had an obstructive AHI >10 events/hour with one patient having associated tonsillar hypertrophy. Two patients had predominant severe central apneas (central AHI 53 and 132 events/hour) which resolved with noninvasive ventilation and nocturnal oxygen therapy respectively. CONCLUSION:Girls with RS have poor sleep quality with alterations in slow wave and REM sleep stages. Obstructive respiratory events are uncommon in patients without adenotonsillar hypertrophy. Central respiratory events are rare. Longitudinal studies should help understanding the natural history of sleep disturbances in RS and their relationship with the neurocognitive decline.
Authors: Jan-Marino Ramirez; Marlusa Karlen-Amarante; Jia-Der Ju Wang; Nicholas E Bush; Michael S Carroll; Debra E Weese-Mayer; Alyssa Huff Journal: Physiology (Bethesda) Date: 2020-11-01
Authors: Olivia J Veatch; Beth A Malow; Hye-Seung Lee; Aryn Knight; Judy O Barrish; Jeffrey L Neul; Jane B Lane; Steven A Skinner; Walter E Kaufmann; Jennifer L Miller; Daniel J Driscoll; Lynne M Bird; Merlin G Butler; Elisabeth M Dykens; June-Anne Gold; Virginia Kimonis; Carlos A Bacino; Wen-Hann Tan; Sanjeev V Kothare; Sarika U Peters; Alan K Percy; Daniel G Glaze Journal: Pediatr Neurol Date: 2021-07-24 Impact factor: 4.210