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自闭症谱系障碍(ASD)儿童的睡眠问题与基因破坏突变。

Sleep Problems in Children with ASD and Gene Disrupting Mutations.

机构信息

Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA.

Department of Genome Sciences, University of Washington, Seattle, Washington, USA.

出版信息

J Genet Psychol. 2021 Sep-Oct;182(5):317-334. doi: 10.1080/00221325.2021.1922869. Epub 2021 May 17.

Abstract

Sleep difficulties are pervasive in autism spectrum disorder (ASD), yet how sleep problems relate to underlying biological mechanisms such as genetic etiology is unclear, despite recent reports of profound sleep problems in children with ASD-associated likely gene disrupting (dnLGD) mutations, and . We aimed to inform etiological contributions to ASD and sleep by characterizing sleep problems in individuals with dnLGD mutations. Participants (N = 2886) were families who completed dichotomous questions about sleep problems within a medical history interview for their child with ASD (age 3-28 years). Confirmatory factor analyses compared between those with ASD and a dnLGD mutation and those with idiopathic ASD (i.e., no known genetic event, NON) highlighted four domains (sleep onset, breathing issues, nighttime awakenings, and daytime tiredness) with sleep onset as a strong factor for both groups. Overall, participant predictors indicated that internalizing behavioral problems and lower cognitive scores were related to increased sleep problems. Internalizing problems were also related to increase nighttime awakenings in the dnLGD group. As an exploratory aim, patterns of sleep issues are described for genetic subgroups with unique patterns including more overall sleep issues in ( = 19), problems falling asleep in ( = 22), and increased daytime naps in ( = 23). Implications for considering genetically defined subgroups when approaching sleep problems in children with ASD are discussed.

摘要

睡眠困难在自闭症谱系障碍(ASD)中普遍存在,但睡眠问题与潜在的生物学机制(如遗传病因)之间的关系尚不清楚,尽管最近有报道称 ASD 相关的可能基因破坏性(dnLGD)突变儿童存在严重的睡眠问题,以及。我们旨在通过描述具有 dnLGD 突变的个体的睡眠问题来为 ASD 和睡眠的病因学贡献提供信息。参与者(N=2886)是在对其 ASD 儿童(3-28 岁)进行病史访谈时完成关于睡眠问题的二分问题的家庭。对具有 ASD 和 dnLGD 突变的参与者与具有特发性 ASD(即没有已知遗传事件,NON)的参与者进行验证性因素分析,突出了四个领域(入睡、呼吸问题、夜间觉醒和白天疲劳),入睡是两个组的重要因素。总体而言,参与者的预测指标表明,内化行为问题和较低的认知分数与睡眠问题的增加有关。内化问题也与 dnLGD 组夜间觉醒增加有关。作为探索性目标,描述了具有独特模式的遗传亚组的睡眠问题模式,包括在(n=19)中总体睡眠问题更多,在(n=22)中入睡困难,以及在(n=23)中白天小睡增加。讨论了当涉及 ASD 儿童的睡眠问题时,考虑遗传定义亚组的意义。

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Sleep Problems in Children with ASD and Gene Disrupting Mutations.自闭症谱系障碍(ASD)儿童的睡眠问题与基因破坏突变。
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