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首页> 外文期刊>Biological research for nursing >Delayed Onset of Sleep in Adolescents With PAX6 Haploinsufficiency
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Delayed Onset of Sleep in Adolescents With PAX6 Haploinsufficiency

机译：延迟睡眠的青少年睡眠，Pax6臭氧水电不全

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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 ( p s > .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.
机译：目的：PAX6 HAPHOUNSUBCINGY（+ /α）可能由于仅涉及分离的Aniridia患者的PAX6或患有WILMS肿瘤，ANIRIDIA，泌尿生殖异常的患者的连续基因缺失，以及发育和智障症综合征。鉴于Pax6在针启发育和昼夜调节中的角色，青少年与pax6 + /？可能会经历睡眠唤醒障碍。这个观察性研究的目的是探讨用pax6 + /探讨青少年中的睡眠相关表型。 。方法：本研究将九个受试者的睡眠表型与pax6 + /α相比（10-19岁）以前发表了关于健康青少年的数据（N = 25岁，10-18岁）。受试者完成了克利夫兰青少年嗜睡问卷（Casq），患者报告了结果测量信息系统（PROMIS）睡眠干扰（v.1.0; 8A），以及销售睡眠相关的损伤（v。1.0; 8B）问卷和穿着七个晚上的行为记录睡眠模式。结果：CASQ，销售睡眠相关损伤的总级数，普罗旺斯睡眠扰动分数在组之间没有统计学不同（P S> .15）。在PAX6 + / /的受试者中发现灯光熄灯的灯光的ACTIGAPH数据被发现在受试者中显着更高？与健康的比较组（调整后平均值[95％置信区间]：20.1分钟[8.1,49.8]，6.2分钟[3.7,10.4]，P = .04）。结论：PAX6 + /的两青少年和平均水平睡眠的健康比较小组少于8小时/夜，青少年的整体睡眠剥夺可能在群体之间存在掩蔽差异。本研究利用稀有遗传紊乱具有生物脆弱性以作为基因型表型模型的休眠问题。与睡眠相关表型的知识将有助于设计研究，以管理青少年中睡眠相关的症状。

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