Sleep Respiratory Disturbances in Girls with Rett Syndrome

Xinyan Zhang, Marcel Smits, Leopold Curfs and Karen Spruyt ()
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Xinyan Zhang: NeuroDiderot-INSERM, Université de Paris, 75019 Paris, France
Marcel Smits: Department of Sleep-Wake Disorders and Chronobiology, Hospital Gelderse Vallei Ede, Governor Kremers Centre, Maastricht University Medical Centre, 6716 RP Gelderland, The Netherlands
Leopold Curfs: Governor Kremers Centre, Maastricht University Medical Centre, 6200 MD Maastricht, The Netherlands
Karen Spruyt: NeuroDiderot-INSERM, Université de Paris, 75019 Paris, France

IJERPH, 2022, vol. 19, issue 20, 1-13

Abstract: Individuals with Rett Syndrome (RTT), a rare neurodevelopmental disorder, present disordered breathing during wakefulness. Whilst findings on breathing during sleep are contradictory, the relation between sleep breathing and their clinical features, genetic characteristics, age, and sleep phase is rarely investigated, which is the objective of this study. Overnight polysomnography (PSG) was performed. Sleep macrostructure parameters were compared between the RTT subjects with and without sleep-disordered breathing (SDB). The association between the apnea–hypopnea index (AHI) with age at PSG was tested. Particularly for RTT subjects with SDB, the respiratory indexes in REM and NREM sleep were compared. Stratified analyses per clinical characteristics, genetic characteristics, and clinical features’ severity were performed. Non-parametric statistics were applied. A sample of 11 female RTT subjects, aged 8.69 ± 5.29 years with ten confirmed with MECP2 mutations, were studied. The average AHI was 3.94 ± 1.19/h TST, of which eight (72.73%) had obstructive sleep apnea, i.e., six in 1/h TST ≤ AHI ≤ 5/h TST, and two in AHI > 5/h TST. The mean SpO 2 % was 81.00 ± 35.15%. The AHI was not significantly correlated with their age at PSG (r s = −0.15, p = 0.67). Sleep macrostructure in SDB-absent and SDB-present groups was not different. Respiratory indexes in those with obstructive sleep apnea showed no difference between REM and NREM sleep nor any of the strata. In our clinical sample, more than half of the RTT subjects with MECP2 mutations had obstructive sleep apnea in both NREM and REM sleep which was unrelated to their clinical features. Our results also indicated hypoxemia throughout nocturnal sleep in RTT. To conclude, our results suggest that disordered breathing during sleep is prevalently present in RTT as an independent clinical feature.

Keywords: MECP2; polysomnography; sleep-disordered breathing; Rett Syndrome (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
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