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1型神经纤维瘤病患儿的睡眠障碍:问卷调查与苹果手表睡眠评估报告

Sleep Disorders in Pediatric Patients Affected by Neurofibromatosis Type 1: Reports of a Questionnaire and an Apple Watch Sleep Assessment.

作者信息

Migliore Alessia, Lo Bianco Manuela, Leonardi Roberta, Salafia Stefania, Di Napoli Claudia, Ruggieri Martino, Polizzi Agata, Praticò Andrea D

机构信息

Pediatrics Postgraduate Residency Program, University of Catania, 95124 Catania, Italy.

Unit of Pediatric Clinic, Department of Clinical and Experimental Medicine, University of Catania, 95124 Catania, Italy.

出版信息

Biomedicines. 2025 Apr 8;13(4):907. doi: 10.3390/biomedicines13040907.

Abstract

Sleep is a fundamental biological function critical for physical and mental health. Chronic sleep disturbances can significantly impair cognitive, emotional, and social functioning, leading to deficits in attention, alertness, and executive function, alongside increased irritability, anxiety, and depression. For pediatric patients, such disturbances pose additional concerns, potentially disrupting developmental processes and quality of life for both children and their families. Emerging evidence suggests a correlation between neurofibromatosis type 1 (NF1) and an increased prevalence of sleep disorders in children. NF1, a genetic condition affecting multiple body systems, including the nervous system, may predispose children to sleep disturbances due to its neurodevelopmental and behavioral impacts. This observational case-control study aimed to explore the association between NF1 and sleep disorders in pediatric patients, comparing the prevalence and patterns of sleep disturbances between NF1 patients and healthy controls. The study included 100 children aged 2-12 years, divided into two groups: 50 with NF1 (case group) and 50 children belonging to the control group. NF1 patients were recruited from the Unit of Rare Diseases of the Nervous System in Childhood at the Policlinico "G. Rodolico-San Marco" University Hospital in Catania. Data were collected using a questionnaire completed by parents, assessing parasomnias, breathing-related sleep disorders, and other behavioral and physiological disturbances; these data were compared to a sleep assessment performed using an Apple Watch Ultra. : NF1 patients exhibited a significantly higher prevalence of sleep disorders than controls. Notable differences included increased nocturnal hyperhidrosis (48% vs. 10%), bruxism (48% vs. 28%), restless legs syndrome (22% vs. 4%), frequent nighttime awakenings (22% vs. 8%), and sleep paralysis (12% vs. 0%). A finding of poorer sleep quality also emerged from the results of sleep analysis using an Apple Watch Ultra. These findings confirm an elevated risk of sleep disorders in children with NF1, emphasizing the importance of early identification and management to improve quality of life and mitigate cognitive and behavioral impacts. Further research is essential to understand the mechanisms underlying these associations and develop targeted interventions for this population.

摘要

睡眠是一项对身心健康至关重要的基本生物学功能。长期睡眠障碍会显著损害认知、情绪和社交功能,导致注意力、警觉性和执行功能出现缺陷,同时易怒、焦虑和抑郁情绪增加。对于儿科患者而言,此类障碍引发了更多担忧,可能会扰乱儿童及其家庭的发育进程和生活质量。新出现的证据表明,1型神经纤维瘤病(NF1)与儿童睡眠障碍患病率增加之间存在关联。NF1是一种影响包括神经系统在内的多个身体系统的遗传性疾病,由于其对神经发育和行为的影响,可能使儿童易患睡眠障碍。这项观察性病例对照研究旨在探讨儿科患者中NF1与睡眠障碍之间的关联,比较NF1患者与健康对照者睡眠障碍的患病率和模式。该研究纳入了100名2至12岁的儿童,分为两组:50名患有NF1的儿童(病例组)和50名属于对照组的儿童。NF1患者从卡塔尼亚“G. 罗多利科 - 圣马可”大学医院儿童期神经系统罕见病科招募。通过家长填写的问卷收集数据,评估异态睡眠、呼吸相关睡眠障碍以及其他行为和生理障碍;这些数据与使用苹果手表Ultra进行的睡眠评估结果进行比较。结果显示,NF1患者的睡眠障碍患病率显著高于对照组。显著差异包括夜间多汗增加(48% 对10%)、磨牙症(48% 对28%)、不安腿综合征(22% 对4%)、夜间频繁醒来(22% 对8%)以及睡眠瘫痪(12% 对0%)。使用苹果手表Ultra进行睡眠分析的结果还显示睡眠质量较差。这些发现证实了NF1儿童患睡眠障碍的风险升高,强调了早期识别和管理对于改善生活质量以及减轻认知和行为影响的重要性。进一步的研究对于理解这些关联背后的机制以及为该人群制定有针对性的干预措施至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1084/12024556/9359d2f15129/biomedicines-13-00907-g001.jpg

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