Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes,Pediatric Neurology

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Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes
Pediatric Neurology ( IF 3.2 ) Pub Date : 2021-07-24 , DOI: 10.1016/j.pediatrneurol.2021.07.009
Olivia J Veatch ₁ , Beth A Malow ₂ , Hye-Seung Lee ₃ , Aryn Knight ₄ , Judy O Barrish ₅ , Jeffrey L Neul ₆ , Jane B Lane ₇ , Steven A Skinner ₈ , Walter E Kaufmann ₉ , Jennifer L Miller ₁₀ , Daniel J Driscoll ₁₀ , Lynne M Bird ₁₁ , Merlin G Butler ₁ , Elisabeth M Dykens ₁₂ , June-Anne Gold ₁₃ , Virginia Kimonis ₁₃ , Carlos A Bacino ₅ , Wen-Hann Tan ₁₄ , Sanjeev V Kothare ₁₅ , Sarika U Peters ₁₆ , Alan K Percy ₇ , Daniel G Glaze ₅

Affiliation

Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, Kansas.
Departments of Pediatrics and Neurology, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, Tennessee.
Department of Pediatrics, University of South Florida, Tampa, Florida.
Center for Clinical Research, Texas Heart Institute, Houston, Texas.
Departments of Pediatrics and Neurology, Baylor College of Medicine, Houston, Texas.
Vanderbilt Kennedy Center, Departments of Pediatrics, Pharmacology, and Special Education, Vanderbilt University Medical Center, Nashville, Tennessee.
University of Alabama at Birmingham, School of Medicine, Birmingham, Alabama; University of Alabama at Birmingham, Civitan International Research Center, Birmingham, Alabama.
Greenwood Genetic Center, Greenwood, South Carolina.
Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
Department of Pediatrics, University of Florida, Gainesville, Florida.
Division of Genetics and Dysmorphology, Department of Pediatrics, University of California San Diego/Rady Children's Hospital, San Diego, California.
Departments of Pediatrics and Special Education, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, Tennessee.
Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, California.
Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
Pediatric Sleep Program, Cohen Children's Medical Center, New Hyde Park, New York.
Departments of Pediatrics and Psychiatry & Behavioral Sciences, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, Tennessee.

Background

Adequate sleep is important for proper neurodevelopment and positive health outcomes. Sleep disturbances are more prevalent in children with genetically determined neurodevelopmental syndromes compared with typically developing counterparts. We characterize sleep behavior in Rett (RTT), Angelman (AS), and Prader-Willi (PWS) syndromes to identify effective approaches for treating sleep problems in these populations. We compared sleep-related symptoms across individuals with these different syndromes with each other, and with typically developing controls.

Methods

Children were recruited from the Rare Diseases Clinical Research Network consortium registries; unaffected siblings were enrolled as related controls. For each participant, a parent completed multiple sleep questionnaires including Pediatric Sleep Questionnaire (Sleep-Disordered Breathing), Children's Sleep Habits Questionnaire (CSHQ), and Pediatric Daytime Sleepiness Scale.

Results

Sleep data were analyzed from 714 participants, aged two to 18 years. Young children with AS had more reported sleep problems than children with RTT or PWS. Older children with RTT had more reported daytime sleepiness than those with AS or PWS. Finally, all individuals with RTT had more evidence of sleep-disordered breathing when compared with individuals with PWS. Notably, typically developing siblings were also reported to have sleep problems, except for sleep-related breathing disturbances, which were associated with each of the genetic syndromes.

Conclusions

Individuals with RTT, AS, and PWS frequently experience sleep problems, including sleep-disordered breathing. Screening for sleep problems in individuals with these and other neurogenetic disorders should be included in clinical assessment and managements. These data may also be useful in developing treatment strategies and in clinical trials.

中文翻译：

评估患有罕见遗传性神经发育综合征的儿童的睡眠障碍

背景

充足的睡眠对于适当的神经发育和积极的健康结果很重要。与正常发育的儿童相比，患有遗传决定的神经发育综合征的儿童更容易出现睡眠障碍。我们描述了 Rett (RTT)、Angelman (AS) 和 Prader-Willi (PWS) 综合征的睡眠行为，以确定治疗这些人群睡眠问题的有效方法。我们比较了具有这些不同综合征的个体之间的睡眠相关症状，以及通常发育的对照。

方法

儿童是从罕见病临床研究网络联盟登记处招募的；未受影响的兄弟姐妹被纳入相关对照。对于每位参与者，一位家长完成了多项睡眠问卷，包括儿童睡眠问卷（睡眠呼吸障碍）、儿童睡眠习惯问卷 (CSHQ) 和儿童白天嗜睡量表。

结果

对 714 名年龄在 2 至 18 岁的参与者的睡眠数据进行了分析。患有 AS 的幼儿比患有 RTT 或 PWS 的儿童报告的睡眠问题更多。年龄较大的患有 RTT 的儿童比患有 AS 或 PWS 的儿童报告的白天嗜睡更多。最后，与 PWS 患者相比，所有 RTT 患者都有更多的睡眠呼吸障碍证据。值得注意的是，据报道，通常发育中的兄弟姐妹也有睡眠问题，除了与每种遗传综合征有关的与睡眠相关的呼吸障碍。