儿童索托斯综合征的睡眠障碍和行为症状
Ilaria Frattale1, Rachele Sarnataro1, Martina Siracusano1,2
1Child Neurology and Psychiatry Unit, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health, Policlinico Tor Vergata Foundation Hospital, Rome, Italy.
Frontiers in neurology
|March 4, 2024
概括
索托斯综合征患者经常出现睡眠障碍 (SD),其中71.1%的患者显示异常得分. 这些睡眠问题与行为问题相关,影响生活质量.
科学领域:
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
- 神经学 神经学
背景情况:
- 索托斯综合征 (SoS) 是一种罕见的遗传疾病,由NSD1基因突变引起.
- 患者可能表现出认知障碍和行为问题,微删除可能会使结果恶化.
- 虽然在SoS中注意到睡眠障碍,但数据仍然有限.
研究的目的:
- 为了确定睡眠障碍 (SDs) 在儿科索托斯综合征队列中的患病率.
- 调查这些患者的睡眠障碍和神经精神病学特征之间的相关性.
主要方法:
- 评估了一组被诊断为索托斯综合征的儿科患者.
- 神经心理学评估包括认知,适应性行为 (ABAS-II) 和行为问题 (CBCL,CPRS-R:L).
- 使用儿童睡眠障碍量表 (SDSC) 评估睡眠障碍.
主要成果:
- 在38名患者中,71.1%的患者表现出异常的SDSC得分,尽管只有两个患者先前被诊断为SD.
- 在SD和遗传微删除,智力障碍或其他疾病之间没有发现显著的关联.
- SDSC得分与行为问题 (康纳斯尺度,CBCL) 有正相关,与适应性功能 (ABAS) 有负相关.
结论:
- 在儿科索托斯综合征患者中检测到睡眠障碍 (71.1%) 的高患病率.
- 睡眠障碍与内化和外化症状有关,特别是过度活跃和冲动性.
- 对于所有SoS患者,建议对睡眠障碍进行查,因为它们对生活质量有重大影响.
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