[Inversion of the circadian melatonin rhythm in Smith-Magenis syndrome]
| Autor: | H, De Leersnyder, M-C, de Blois, J-L, Bresson, D, Sidi, B, Claustrat, A, Munnich |
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| Jazyk: | francouzština |
| Rok vydání: | 2003 |
| Předmět: |
Chronotherapy
Male Sleep Wake Disorders Adolescent Adrenergic beta-Antagonists Chromosome Disorders Syndrome Pineal Gland Circadian Rhythm Child Preschool Intellectual Disability Humans Abnormalities Multiple Drug Therapy Combination Female Chromosome Deletion Child Secretory Rate Chromosomes Human Pair 17 Melatonin |
| Zdroj: | Revue neurologique. 159 |
| ISSN: | 0035-3787 |
| Popis: | Smith-Magenis syndrome (SMS) is a genetic disease ascribed to an interstitial deletion on chromosome 17 (del 17p11); the prevalence is 1/25,000 births. The diagnosis is made on high-resolution karyotype confirmed by FISH. Clinical features include mild dysmorphism, short stature, other malformations (heart, renal, neurologic diseases). Mental retardation is constant; there are major behavioral disturbances and severe sleep disorders. We studied sleep disorders and melatonin secretion in SMS children and we have shown inversion of the circadian rhythm of melatonin, abnormally secreted during the day. This is the first biological model of behavioral and sleep disorder in a genetic disease. Therapeutic approach using beta-blockers in the morning and melatonin in the evening, reset circadian rhythm of melatonin, improve behavior and restore sleep. |
| Databáze: | OpenAIRE |
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