Dataset Information

Sleep and Breathing Disturbances in Children With Leigh Syndrome: A Comparative Study.

ABSTRACT:

Background

Leigh syndrome (LS) is a progressive neurodegenerative mitochondrial disease characterized by necrotizing lesions affecting different parts of the central nervous system, especially in the brainstem and basal ganglia. Lesions in this area may involve respiratory and sleep centers, resulting in the clinically significant disturbances seen-but poorly characterized-in LS. The purpose of the present study is to characterize and compare the physiologic responses to respiratory disturbances quantified by polysomnography metrics of children with LS with age-sex- and apnea-hypopnea index (AHI)-matched patients with obstructive sleep apnea (OSA), a common clinical population with similar burden of sleep-disordered breathing.

Methods

Retrospective comparative study of polysomnographic data from six patients with LS were reviewed and compared with 18 age-sex-AHI-matched patients with OSA, with particular attention to cardiorespiratory and sleep architecture metrics.

Results

Sleep architecture and stage duration were conserved in LS and OSA groups, but increased wake after sleep onset was seen among the first group. The LS group exhibited both obstructive and central sleep apnea. The group also had significantly greater values of heart rate, ≥3% oxygen desaturation index, and lower values of sleep efficiency, respiratory arousal index, and total sleep time when compared with the OSA group.

Conclusions

Patients with LS exhibited significantly more sleep-related cardiorespiratory disturbances and sleep fragmentation when compared with neurotypical children with OSA. Given that these findings are plausibly detrimental to health and development, sleep evaluation in patients with similar conditions should be encouraged for early management.

SUBMITTER: Ju Wang JD

PROVIDER: S-EPMC10243794 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature

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Publications

Sleep and Breathing Disturbances in Children With Leigh Syndrome: A Comparative Study.

Ju Wang Jia-Der JD Chen Maida M Zhang Cristian C Parker Jessica J Saneto Russell R Ramirez Jan-Marino JM

Pediatric neurology 20220829

<h4>Background</h4>Leigh syndrome (LS) is a progressive neurodegenerative mitochondrial disease characterized by necrotizing lesions affecting different parts of the central nervous system, especially in the brainstem and basal ganglia. Lesions in this area may involve respiratory and sleep centers, resulting in the clinically significant disturbances seen-but poorly characterized-in LS. The purpose of the present study is to characterize and compare the physiologic responses to respiratory dist ...[more]

PMID: 36137349

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Project description:BackgroundChildren with Down syndrome (DS) are at increased risk of sleep-disordered breathing (SDB). We investigated sleep spindle activity, as a marker of sleep quality, and its relationship with daytime functioning in children with DS compared to typically developing (TD) children.MethodsChildren with DS and SDB (n = 44) and TD children matched for age, sex and SDB severity underwent overnight polysomnography. Fast or Slow sleep spindles were identified manually during N2/N3 sleep. Spindle activity was characterized as spindle number, density (number of spindles/h) and intensity (density × average duration) on central (C) and frontal (F) electrodes. Parents completed the Child Behavior Check List and OSA-18 questionnaires.ResultsIn children with DS, spindle activity was lower compared to TD children for F Slow and F Slow&Fast spindles combined (p < 0.001 for all). Furthermore, there were no correlations between spindle activity and CBCL subscales; however, spindle activity for C Fast and C Slow&Fast was negatively correlated with OSA-18 emotional symptoms and caregiver concerns and C Fast activity was also negatively correlated with daytime function and total problems.ConclusionsReduced spindle activity in children with DS may underpin the increased sleep disruption and negative effects of SDB on quality of life and behavior.ImpactChildren with Down syndrome (DS) are at increased risk of sleep-disordered breathing (SDB), which is associated with sleep disruption affecting daytime functioning. Sleep spindles are a sensitive marker of sleep quality. We identified for the first time that children with DS had reduced sleep spindle activity compared to typically developing children matched for SDB severity. The reduced spindle activity likely underpins the more disrupted sleep and may be associated with reduced daytime functioning and quality of life and may also be an early biomarker for an increased risk of developing dementia later in life in children with DS.

Project description:To determine whether defining two subtypes of sleep-disordered breathing (SDB) events-with or without hypoxia-results in measures that are more strongly associated with hypertension and sleepiness. A total of 1022 participants with 2112 nocturnal polysomnograms from the Wisconsin Sleep Cohort were analyzed with our automated algorithm, developed to detect breathing disturbances and desaturations. Breathing events were time-locked to desaturations, resulting in two indices-desaturating (hypoxia-breathing disturbance index [H-BDI]) and nondesaturating (nonhypoxia-breathing disturbance index [NH-BDI]) events-regardless of arousals. Measures of subjective (Epworth Sleepiness Scale) and objective (2981 multiple sleep latency tests from a subset of 865 participants) sleepiness were analyzed, in addition to clinically relevant clinicodemographic variables. Hypertension was defined as BP ≥ 140/90 or antihypertensive use. H-BDI, but not NH-BDI, correlated strongly with SDB severity indices that included hypoxia (r ≥ 0.89, p ≤ .001 with 3% oxygen-desaturation index [ODI] and apnea hypopnea index with 4% desaturations). A doubling of desaturation-associated events was associated with hypertension prevalence, which was significant for ODI but not H-BDI (3% ODI OR = 1.06, 95% CI = 1.00-1.12, p < .05; H-BDI OR 1.04, 95% CI = 0.98-1.10) and daytime sleepiness (β = 0.20 Epworth Sleepiness Scale [ESS] score, p < .0001; β = -0.20 minutes in MSL on multiple sleep latency test [MSLT], p < .01). Independently, nondesaturating event doubling was associated with more objective sleepiness (β = -0.52 minutes in MSL on MSLT, p < .001), but had less association with subjective sleepiness (β = 0.12 ESS score, p = .10). In longitudinal analyses, baseline nondesaturating events were associated with worsening of H-BDI over a 4-year follow-up, suggesting evolution in severity. In SDB, nondesaturating events are independently associated with objective daytime sleepiness, beyond the effect of desaturating events.

Dataset Information

Sleep and Breathing Disturbances in Children With Leigh Syndrome: A Comparative Study.

Background

Methods

Results

Conclusions

Publications

Sleep and Breathing Disturbances in Children With Leigh Syndrome: A Comparative Study.

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