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Sleep-disordered breathing and genetic findings in children with Prader-Willi syndrome in China.

ABSTRACT: Background:Sleep-related breathing disorders are common in individuals with Prader-Willi syndrome (PWS), and can include hypersomnolence and obstructive sleep apnea, as well as central sleep breathing abnormalities that are present from infancy. Here we describe the sleep-disordered breathing (SDB) and genetic findings in patients with PWS in China. Methods:In all, 48 patients confirmed by genetic tests were enrolled, 32 were under 2 years of age and 16 were older children. There were 37 (77.1%) patients with paternal 15q11-13 deletions, 11 (22.9%) patients with maternal uniparental disomy (mUPD), and no patients with imprinting defect (ID). Results:Compared with infants, a significantly higher proportion of older children with PWS were overweight or obese (15/16 children vs. 4/32 infants) and children had a higher serum level of free thyroxine (FT4) (0.9±0.2 vs. 0.7±0.7) and thyroxine (T4) (9.0±2.5 vs. 7.5±1.7). Age was correlated significantly with body mass index (BMI), T4, and FT4 (r=0.626, P=0.000; r=0.426, respectively). Overall, 42 of 48 (87.5%) patients had sleep apnea on polysomnography (PSG). Infants, when compared with older children, were more likely to experience central sleep apnea (71.8% vs. 25%). In infants, there were no significant differences in the prevalence of SDB between the deletion group and the mUPD group. Conclusions:Being overweight or obese was more common in older children with PWS. Compared with infants, a higher proportion children were overweight or obese and had higher serum levels of FT4 and T4. The prevalence of SDB was high in those with PWS, and central sleep apnea was found to be prevalent in infants. The pattern of SDB in infants with PWS was not significantly associated with the genotypes.

SUBMITTER: Lu A

PROVIDER: S-EPMC7475489 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature

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Sleep-disordered breathing and genetic findings in children with Prader-Willi syndrome in China.

Lu Aizhen A Luo Feihong F Sun Chengjun C Zhang Xiaobo X Wang Libo L Lu Wei W

Annals of translational medicine 20200801 16

<h4>Background</h4>Sleep-related breathing disorders are common in individuals with Prader-Willi syndrome (PWS), and can include hypersomnolence and obstructive sleep apnea, as well as central sleep breathing abnormalities that are present from infancy. Here we describe the sleep-disordered breathing (SDB) and genetic findings in patients with PWS in China.<h4>Methods</h4>In all, 48 patients confirmed by genetic tests were enrolled, 32 were under 2 years of age and 16 were older children. There ...[more]

PMID: 32953789

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Project description:Prader-Willi syndrome (PWS) is a complex imprinting disorder related to genomic errors that inactivate paternally-inherited genes on chromosome 15q11-q13 with severe implications on endocrine, cognitive and neurologic systems, metabolism, and behavior. The absence of expression of one or more genes at the PWS critical region contributes to different phenotypes. There are three molecular mechanisms of occurrence: paternal deletion of the 15q11-q13 region; maternal uniparental disomy 15; or imprinting defects. Although there is a clinical diagnostic consensus criteria, DNA methylation status must be confirmed through genetic testing. The endocrine system can be the most affected in PWS, and growth hormone replacement therapy provides improvement in growth, body composition, and behavioral and physical attributes. A key feature of the syndrome is the hypothalamic dysfunction that may be the basis of several endocrine symptoms. Clinical and molecular complexity in PWS enhances the importance of genetic diagnosis in therapeutic definition and genetic counseling. So far, no single gene mutation has been described to contribute to this genetic disorder or related to any exclusive symptoms. Here we proposed to review individually disrupted genes within the PWS critical region and their reported clinical phenotypes related to the syndrome. While genes such as MKRN3, MAGEL2, NDN, or SNORD115 do not address the full spectrum of PWS symptoms and are less likely to have causal implications in PWS major clinical signs, SNORD116 has emerged as a critical, and possibly, a determinant candidate in PWS, in the recent years. Besides that, the understanding of the biology of the PWS SNORD genes is fairly low at the present. These non-coding RNAs exhibit all the hallmarks of RNA methylation guides and can be incorporated into ribonucleoprotein complexes with possible hypothalamic and endocrine functions. Also, DNA conservation between SNORD sequences across placental mammals strongly suggests that they have a functional role as RNA entities on an evolutionary basis. The broad clinical spectrum observed in PWS and the absence of a clear genotype-phenotype specific correlation imply that the numerous genes involved in the syndrome have an additive deleterious effect on different phenotypes when deficiently expressed.

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:BackgroundSleep-disordered breathing (SDB) is a common syndrome in children, related to their immune responses, cardiovascular function, and neurocognitive function. This study aimed to determine the prevalence of SDB among children in Wuxi, China, and to evaluate the protective and risk factors of SDB in children.MethodsA cross-sectional study was conducted on children attending different schools across Wuxi, China, aged 3-14?years old. Of a total of 5630 questionnaires distributed to the parents of the children, 3997 (71.0%) were deemed to be valid. The data on the general sociodemographic factors, children's allergy and sleep characteristics, and the parents' sleep characteristics were also collected. The Paediatric Sleep Questionnaire (PSQ) score was used to identify children at high risk of SDB. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by logistic regression.ResultsThe prevalence of SDB in this cohort was 13.4% (N?=?534). SDB prevalence significantly differed in children with asthma (28.2% vs. 12.8%, P?<?0.001), eczema (19.0% vs. 10.0%, P?<?0.001), urticaria (16.4% vs. 12.9%, P?<?0.01) and rhinitis (21.4% vs. 10.7%, P?<?0.001). No significant differences were found in SDB prevalence with respect to pillow material or quilt material. On multivariate logistic regression analysis, asthma (OR 1.986 (95% CI 1.312-3.007), P?<?0.01), eczema (OR 1.675 (95% CI 1.377-2.037), P?<?0.001), rhinitis (OR 1.998 (95% CI 1.635-2.441), suffered from familial sleep sickness (OR 2.416 (95% CI 1.975-2.955), P?<?0.001) and whose mothers slept for a shorter duration (6?h-8?h: OR 1.370 (95% CI 1.089-1.724), P?<?0.01; <6?h: OR 3.385(95% CI 2.098-5.461), P?<?0.001) increased the odds of having SDB. The incidence of SDB significantly decreased with children's age (6-11?years old: 0R 0.768 (95% CI 0.597-0.989), P?<?0.05; 12-14?years old: OR 0.691 (95% CI 0.530-0.901), P?<?0.01).ConclusionThe results of this study demonstrated that atopic diseases (asthma, eczema, and rhinitis) and family sleep habits were risk factors for SDB in children in Wuxi, China.

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Sleep-disordered breathing and genetic findings in children with Prader-Willi syndrome in China.

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Sleep-disordered breathing and genetic findings in children with Prader-Willi syndrome in China.

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