Sleep phenotypes in infants and toddlers with neurogenetic syndromes
Sleep phenotypes in infants and toddlers with neurogenetic syndromes
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DOI：
10.1016/j.sleep.2017.07.014
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发表时间：
2017-10-01
期刊：
影响因子：
4.8
通讯作者：
Tonnsen, Bridgette L.
中科院分区：
文献类型：
--
作者：
Abel, Emily A.;Tonnsen, Bridgette L.
背景：尽管患有神经遗传综合征的学龄前和学龄儿童存在睡眠问题，但关于这些问题在婴儿期和蹒跚学步的早期出现的情况却知之甚少。为了了解婴儿和幼儿的症状特征和干预目标，我们将父母报告的婴幼儿睡眠问题与Angelman综合征(AS)、Williams综合征(WS)和Prader-Willi综合征(PWS)进行了比较，并与同龄典型发育期(TD)对照组进行了比较。方法：80名儿童的母亲(18名AS、19名WS、19名PWS和24名TD)完成了简短的婴儿睡眠问卷。主要因变量包括(1)入睡潜伏期，(2)总睡眠时长，(3)白天和夜间睡眠时长，(4)睡眠问题严重程度，根据母亲印象和国家睡眠基金会指南。结果：睡眠问题在患有神经遗传综合征的儿童中相对常见，根据国家指南，41%的母亲报告睡眠问题，29%的儿童表现出睡眠时间异常。在遗传亚群中，AS和WS儿童的问题最严重，特别是与夜间睡眠时间有关的问题。尽管非典型睡眠在每个综合征的发育后期都有典型的报道，但患有PWS的婴儿和蹒跚学步的儿童表现出很大程度上的典型模式，可能表明睡眠问题的延迟发作，这与PWS的其他医学特征一致。结论：我们的发现表明，神经遗传综合征的睡眠问题早在婴儿期和蹒跚学步的时候就出现了，不同的基因亚群有不同的特征。这项工作强调了作为神经综合征人群常规医疗护理一部分的早期睡眠筛查的重要性，以及有针对性的、对症状敏感的治疗的必要性。(C)2017爱思唯尔B.V.保留所有权利。
Background: Although sleep problems are well characterized in preschool-and school-age children with neurogenetic syndromes, little is known regarding the early emergence of these problems in infancy and toddlerhood. To inform syndrome-specific profiles and targets for intervention, we compared parent-reported sleep problems in infants and toddlers with Angelman syndrome (AS), Williams syndrome (WS), and Prader-Willi syndrome (PWS) with patterns observed among same-aged typically developing (TD) controls.Methods: Mothers of 80 children (18 AS, 19 WS, 19 PWS, and 24 TD) completed the Brief Infant Sleep Questionnaire. Primary dependent variables included (1) sleep onset latency, (2) total sleep duration, (3) daytime and nighttime sleep duration, and (4) sleep problem severity, as measured by both maternal impression and National Sleep Foundation guidelines.Results: Sleep problems are relatively common in children with neurogenetic syndromes, with 41% of mothers reporting problematic sleep and 29% of children exhibiting abnormal sleep durations as per national guidelines. Across genetic subgroups, problems are most severe in children with AS and WS, particularly in relation to nighttime sleep duration. Although atypical sleep is characteristically reported in each syndrome later in development, infants and toddlers with PWS exhibited largely typical patterns, potentially indicating delayed onset of sleep problems in concordance with other medical features of PWS.Conclusions: Our findings suggest that sleep problems in neurogenetic syndromes emerge as early as infancy and toddlerhood, with variable profiles across genetic subgroups. This work underscores the importance of early sleep screenings as part of routine medical care of neurosyndromic populations and the need for targeted, syndrome-sensitive treatment. (C) 2017 Elsevier B.V. All rights reserved.