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Review
. 2022 Mar 14;19(6):3422.
doi: 10.3390/ijerph19063422.

Literature Cases Summarized Based on Their Polysomnographic Findings in Rett Syndrome

Xin-Yan Zhang  1 , Karen Spruyt  1
Affiliations
Review

Literature Cases Summarized Based on Their Polysomnographic Findings in Rett Syndrome

Xin-Yan Zhang et al. Int J Environ Res Public Health. .

Abstract

Rett syndrome (RTT) is a severe and rare neurodevelopmental disorder affecting mostly girls. In RTT, an impaired sleep pattern is a supportive criterion for the diagnosis, yet little is known regarding the sleep structure and sleep respiratory events. Aiming to delineate sleep by aggregating RTT case (series) data from published polysomnographic studies, seventy-four RTT cases were collected from eleven studies up until 6 February 2022 (PROSPERO: CRD 42020198099). We compared the polysomnographic data within RTT stratifications and to a typically developing population. MECP2 cases demonstrated shortened total sleep time (TST) with increased stage N3 and decreased REM sleep. In cases with CDKL5 mutations, TST was longer and they spent more time in stage N1 but less in stage N3 than those cases affected by MECP2 mutations and a typically developing population. Sleep-disordered breathing was confirmed by the abnormal apnea/hypopnea index of 11.92 ± 23.67/h TST in these aggregated cases. No association of sleep structure with chronological age was found. In RTT, the sleep macrostructure of MECP2 versus CDKL5 cases showed differences, particularly regarding sleep stage N3. A severe REM sleep propensity reduction was found. Aberrant sleep cycling, possibly characterized by a poor REM 'on switch' and preponderance in slow and high-voltage sleep, is proposed.

Keywords: Rett syndrome; rapid eye movement sleep; sleep problems; sleep study; total sleep time.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Flowchart of article selection up to the date of 6 February 2022.
Figure 2
Figure 2
Number of cases in stratification analysis. A&T: adeno(tonsil)ectomy surgery; CDKL5: cyclin-dependent kinase-like 5; MECP2: methyl-CpG-binding protein-2; RTT: Rett syndrome.
Figure 3
Figure 3
Spearman’s rank correlation of polysomnographic parameters with chronological age in the strata. Numbers of cases are listed in the parenthesis. AHI: apnea/hypopnea index per hour of TST, normal value ≤1/h; A&T: adeno(tonsil)ectomy surgery; CAI: central apnea index per hour of TST; CDKL5: cyclin-dependent kinase-like 5; MECP2: methyl-CpG-binding protein-2; N1 (%): percentage of non-rapid eye movement sleep stage 1 of TST; N2 (%): percentage of non-rapid eye movement sleep stage 2 of TST; N3 (%): percentage of non-rapid eye movement sleep stage 3 of TST; SEI: sleep efficiency; SOL: sleep onset latency; TST: total sleep time; OAHI: obstructive apnea hypopnea index per hour; OAI: obstructive apnea hypopnea index per hour of TST; ODI: oxygen desaturation index per hour of TST; REM (%): percentage of rapid eye movement sleep of TST; RTT: Rett syndrome; SpO2% mean: mean oxygen saturation (%); SpO2% nadir: minimal oxygen saturation (%), WASO: wakefulness after sleep onset. Note: * p < 0.05, two-tailed test of significance.
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