Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome
Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome
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DOI：
10.1067/mpd.2001.115018
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发表时间：
2001-07-01
影响因子：
5.1
通讯作者：
Munnich, A
中科院分区：
文献类型：
--
作者：
De Leersnyder, H;de Blois, MC;Munnich, A
目的：目的是确定褪黑激素的昼夜节律在史密斯-马格尼综合征（SMS），这会导致行为问题和睡眠disturbance.Study设计：问卷，睡眠咨询，睡眠日记，获得了20名儿童与SMS（9名女孩，11名男孩，年龄4至17岁）。记录了8例患者的活动描记术、脑电图和血浆褪黑激素、皮质醇和生长激素的昼夜变化。结果：所有SMS患儿的褪黑素昼夜节律均发生了时相变化。褪黑激素分泌开始的时间为6 AM +/-2（对照组：9 P.M.+/-2）。峰值时间为12 PM +/- 1（对照组：3：30 AM +/- 1：30），褪黑激素偏移时间为8 PM +/-1（对照组：6 AM +/-1）。结论：考虑到生物钟基因介导昼夜节律的产生，我们认为定位于染色体17p11.2的昼夜节律系统基因的单倍不足可能导致西姆斯患者褪黑素昼夜节律的逆转。
Objective: The objective was to determine the circadian rhythm of melatonin in the Smith-Magenis syndrome (SMS), which causes behavioral problems and sleep disturbance.Study design: Questionnaires, sleep consultations, and sleep diaries were obtained in 20 children with SMS (9 girls, 11 boys aged 4 to 17 years). Actigraphy, electroencephalography, and the circadian variations of plasma melatonin, cortisol, and growth hormone were recorded in 8 patients. Early sleep onset, early sleep offset, and sleep attack indicated sleep disturbance.Results: All children with SMS had a phase shift of their circadian rhythm of melatonin. Time at onset of melatonin secretion was 6 AM +/-2 (control group: 9P.M +/-2). Peak time was 12 PM +/- 1 (control group: 3:30 AM +/- 1:30), and melatonin offset was at 8 PM +/-1 (control group: 6AM +/-1). Behavioral problems correlated with the invert-ed circadian rhythm of melatonin.Conclusion: Considering that clock genes mediate the generation of circadian rhythms, we suggest that haploinsufficiency for a circadian system gene mapping to chromosome 17p11.2 may cause the inversion of the circadian rhythm of melatonin in SIMS.