Dataset Information

Delayed Onset of Sleep in Adolescents With PAX6 Haploinsufficiency.

ABSTRACT:

Objective

PAX6 haploinsufficiency ( +/-) can occur due to mutations involving only PAX6 in patients with isolated aniridia or as contiguous gene deletions in patients with Wilms tumor, aniridia, genitourinary anomalies, and range of developmental and intellectual disabilities syndrome. Given the role of PAX6 in pineal development and circadian regulation, adolescents with PAX6+/- may experience sleep-wake disturbances. The purpose of this observational study was to explore sleep-related phenotypes in adolescents with PAX6+/-.

Methods

This study compared sleep phenotypes of nine subjects with PAX6+/- (aged 10-19 years) with previously published data on healthy adolescents ( n = 25, aged 10-18 years). Subjects completed the Cleveland Adolescent Sleepiness Questionnaire (CASQ), Patient Reported Outcomes Measurement Information System (PROMIS) Sleep Disturbance (v. 1.0; 8a), and PROMIS Sleep-Related Impairment (v. 1.0; 8b) Questionnaires and wore actigraphs for seven nights to record sleep patterns.

Results

Total CASQ, PROMIS sleep-related impairment, and PROMIS sleep disturbance scores were not statistically different between the groups ( ps > .15). Actigraph data for lights off to sleep-onset time were found to be significantly higher in subjects with PAX6+/- versus the healthy comparison group (adjusted mean [95% confidence interval]: 20.1 min [8.1, 49.8] vs. 6.2 min [3.7, 10.4], respectively, p = .04).

Conclusion

Both adolescents with PAX6+/- and the healthy comparison group on average slept less than 8 hr/night, and overall sleep deprivation in adolescents may have masked differences between groups. This study used rare genetic disorders with biological vulnerability to sleep problems as a genotype-phenotype model. Knowledge of sleep-related phenotypes will assist in designing studies to manage sleep-related symptoms in adolescents.

SUBMITTER: Hanish AE

PROVIDER: S-EPMC5942528 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature

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Publications

Delayed Onset of Sleep in Adolescents With PAX6 Haploinsufficiency.

Hanish Alyson E AE Han Joan C JC

Biological research for nursing 20180117 2

<h4>Objective</h4>PAX6 haploinsufficiency ( +/-) can occur due to mutations involving only PAX6 in patients with isolated aniridia or as contiguous gene deletions in patients with Wilms tumor, aniridia, genitourinary anomalies, and range of developmental and intellectual disabilities syndrome. Given the role of PAX6 in pineal development and circadian regulation, adolescents with PAX6+/- may experience sleep-wake disturbances. The purpose of this observational study was to explore sleep-related ...[more]

PMID: 29343077

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Project description:BackgroundThe use of technology and social media among adolescents is an increasingly prevalent phenomenon. However, there is a paucity of evidence on the relationship between frequency of use of electronic devices and social media and sleep-onset difficulties among the Italian population.ObjectiveThe aim of this study is to investigate the association between the use of technology and social media, including Facebook and YouTube, and sleep-onset difficulties among adolescents from Lombardy, the most populous region in Italy.MethodsThe relationship between use of technology and social media and sleep-onset difficulties was investigated. Data came from the 2013-2014 wave of the Health Behavior in School-aged Children survey, a school-based cross-sectional study conducted on 3172 adolescents aged 11 to 15 years in Northern Italy. Information was collected on difficulties in falling asleep over the last 6 months. We estimated the odds ratios (ORs) for sleep-onset difficulties and corresponding 95% CIs using logistic regression models after adjustment for major potential confounders.ResultsThe percentage of adolescents with sleep-onset difficulties was 34.3% (1081/3151) overall, 29.7% (483/1625) in boys and 39.2% (598/1526) in girls. It was 30.3% (356/1176) in 11-year-olds, 36.2% (389/1074) in 13-year-olds, and 37.3% (336/901) in 15-year-olds. Sleep-onset difficulties were more frequent among adolescents with higher use of electronic devices, for general use (OR 1.50 for highest vs lowest tertile of use; 95% CI 1.21-1.85), use for playing games (OR 1.35; 95% CI 1.11-1.64), use of online social networks (OR 1.40 for always vs never or rarely; 95% CI 1.09-1.81), and YouTube (OR 2.00; 95% CI 1.50-2.66).ConclusionsThis study adds novel information about the relationship between sleep-onset difficulties and technology and social media in a representative sample of school-aged children from a geographical location that has not been included in studies of this type previously. Exposure to screen-based devices and online social media is significantly associated with adolescent sleep-onset difficulties. Interventions to create a well-coordinated parent- and school-centered strategy, thereby increasing awareness on the unfavorable effect of evolving technologies on sleep among adolescents, are needed.

Dataset Information

Delayed Onset of Sleep in Adolescents With PAX6 Haploinsufficiency.

Objective

Methods

Results

Conclusion

Publications

Delayed Onset of Sleep in Adolescents With PAX6 Haploinsufficiency.

Similar Datasets

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