LETTER TO JMG

ß₁-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome

H De Leersnyder¹, J L Bresson², M-C de Blois¹, J-C Souberbielle³, A Mogenet², B Delhotal-Landes⁴, F Salefranque², A Munnich¹

¹ Department of Genetics and Unit INSERM 393, Hôf.pital Necker Enfants-Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
² Department of Paediatrics, Hôf.pital Necker Enfants-Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
³ Department of Biology, Hôf.pital Necker Enfants-Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
⁴ Department of Toxicology, Hôf.pital Ambroise Paré, Paris, France

Correspondence to:
Correspondence to:
Professor A Munnich, Département de Génétique et Unité INSERM 393, Hôf.pital Necker Enfants-Malades, 149 rue de Sévres, 75743 Paris Cedex 15, France;
munnich@necker.fr

Keywords: Smith-Magenis syndrome; circadian rhythm; sleep; melatonin

The first 150 words of the full text of this article appear below.

First described by Smith et al¹ in 1982, Smith-Magenis syndrome (SMS) is a contiguous gene syndrome ascribed to interstitial deletions of chromosome 17p11.2. Clinical features include infantile hypotonia, characteristic craniofacial appearance, brachydactyly, short stature, ocular anomalies, deep, hoarse voice, early speech delay, mental retardation, and behavioural disturbances.^2,3 Behavioural problems include hyperactivity, attention deficit, self-injury, temper tantrums, and major sleep disturbance.⁴ These symptoms have a major impact on the children and their families. The diagnosis is based on high resolution karyotype analysis and fluorescence in situ hybridisation (FISH).⁵

Sleep disturbances occur in all cases and are predictive of maladaptive behaviour, increased by mental retardation and cognitive delay. The specific pattern of sleep disturbance in SMS includes early sleep onset, frequent awakenings, and early waking.^6,7 Moreover, "sleep attacks" at the end of the day are consistent features of the disease and may represent the endogenous sleep onset of the patients. The children . . . [Full text of this article]

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This article has been cited by other articles:

• Reardon, W., Donnai, D. (2007). Dysmorphology demystified. Arch. Dis. Child. Fetal Neonatal Ed. 92: F225-F229 [Full Text]  
• Turk, J (2003). Melatonin supplementation for severe and intractable sleep disturbance in young people with genetically determined developmental disabilities: short review and commentary. J. Med. Genet. 40: 793-796 [Abstract] [Full Text]  

eLetters:

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Improvement of sleep disturbances and behaviour in Smith-Magenis syndrome with morning melatonin

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J Med Genet, 19 Nov 2003 [Full text]