Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome

被引：121

作者：

De Leersnyder, H ^{[1
]}

de Blois, MC

Claustrat, B

Romana, S

Albrecht, U

von Kleist-Retzow, JC

Delobel, B

Viot, G

Lyonnet, S

Vekemans, M

Munnich, A

机构：

[1] Hop Necker Enfants Malad, Dept Genet, Paris, France

[2] Hop Necker Enfants Malad, INSERM, U393, Paris, France

[3] Hop Neurol, Lab Radio Pharm, Lyon, France

[4] Max Planck Inst Expt Endocrinol, Hannover, Germany

[5] Hop St Antoine, Lab Cytogenet, Lille, France

来源：

JOURNAL OF PEDIATRICS | 2001年 / 139卷 / 01期

关键词：

D O I：

10.1067/mpd.2001.115018

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：111 / 116

页数：6

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