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雷特综合征患儿的睡眠障碍

Sleep Disorders in Children with Rett Syndrome.

作者信息

Harner Christopher, Gaffey Thomas A, Sullivan Shannon S, Witmans Manisha, DelRosso Lourdes M, Tablizo Mary Anne

机构信息

College of Science, California State University, Turlock, CA 95382, USA.

Department of Psychology, University of Notre Dame, Notre Dame, IN 46556, USA.

出版信息

Children (Basel). 2025 Jun 30;12(7):869. doi: 10.3390/children12070869.

DOI:10.3390/children12070869
PMID:40723062
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12293099/
Abstract

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder marked by neurological regression, autonomic dysfunction, seizures, and significant sleep and breathing abnormalities. About 80% of affected individuals, especially young children, experience sleep disturbances such as insomnia, sleep-disordered breathing, nocturnal vocalizations, bruxism, and seizures. Breathing irregularities during sleep-like apnea, alternating hyperventilation, and hypoventilation-are common, with both obstructive and central sleep apnea identified through polysomnography. This review focuses on the prevalent sleep disorders in children with Rett syndrome and highlights current recommendations for the management of sleep disorders.

摘要

雷特综合征(RTT)是一种X连锁神经发育障碍,其特征为神经功能退化、自主神经功能障碍、癫痫发作以及严重的睡眠和呼吸异常。约80%的受影响个体,尤其是幼儿,会出现睡眠障碍,如失眠、睡眠呼吸紊乱、夜间发声、磨牙症和癫痫发作。睡眠期间的呼吸不规则,如呼吸暂停、交替性过度通气和通气不足很常见,通过多导睡眠图可识别出阻塞性和中枢性睡眠呼吸暂停。本综述重点关注雷特综合征患儿中普遍存在的睡眠障碍,并强调了目前对睡眠障碍管理的建议。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/610d/12293099/40c420b6cf1b/children-12-00869-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/610d/12293099/40c420b6cf1b/children-12-00869-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/610d/12293099/40c420b6cf1b/children-12-00869-g001.jpg

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本文引用的文献

1
Challenges in Using Parent-Reported Bed and Wake Times for Actigraphy Scoring in Rett-Related Syndromes.在雷特相关综合征中使用家长报告的卧床和起床时间进行活动记录仪评分的挑战。
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Profile of Trofinetide in the Treatment of Rett Syndrome: Design, Development and Potential Place in Therapy.特罗氟奈肽治疗雷特综合征的概况:设计、研发及治疗中的潜在定位。
Drug Des Devel Ther. 2024 Nov 6;18:5023-5040. doi: 10.2147/DDDT.S383133. eCollection 2024.
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Nat Rev Dis Primers. 2024 Nov 7;10(1):84. doi: 10.1038/s41572-024-00568-0.
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Orphanet J Rare Dis. 2024 Aug 13;19(1):296. doi: 10.1186/s13023-024-03313-8.
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The sleep problems in individuals with Rett syndrome and their caregivers.患有雷特综合征的个体及其照料者的睡眠问题。
Autism. 2024 Dec;28(12):3118-3130. doi: 10.1177/13623613241254620. Epub 2024 Jun 9.
9
Management of respiratory issues in patients with Rett syndrome: Italian experts' consensus using a Delphi approach.雷特综合征患者呼吸问题的管理:使用德尔菲法的意大利专家共识。
Pediatr Pulmonol. 2024 Jul;59(7):1970-1978. doi: 10.1002/ppul.27030. Epub 2024 May 9.
10
Predominant cardiac sympathetic modulation during wake and sleep in patients with Rett syndrome.雷特综合征患者清醒和睡眠期间心脏交感神经调节占主导地位。
Sleep Med. 2024 Jul;119:188-191. doi: 10.1016/j.sleep.2024.04.036. Epub 2024 Apr 28.