materials and methods a number of 100 patients with imr, normal karyotypes and negative fragile-x and metabolic tests were screened for subtelomeric abnormalities using mlpa technique. results nine of 100 patients showed subtelomeric abnormalities with at least one of the two mlpa kits. deletion in a single region was found in 3 patients, and in two different subtelomeric regions in 1 patient. ...

Out of a group of 250 consecutive patients who were examined for various disorders of sleep and waking at Ghent University Hospital within a period of 24 months, 30 patients with hypersomnolence associated with a suspected underlying neurological etiology were selected. The population consisted of 15 males and 15 females with mean age of 36 years (range: 16-60 years). Twenty-one patients had ha...

This article includes discussion of idiopathic hypersomnia (IH), which is characterized by excessive daytime sleepiness, difficulty awakening (sleep drunkenness), and undisturbed overnight sleep without cataplexy or known cause of excessive sleepiness. Excessive sleepiness (hypersomnolence) of unknown etiology, which cannot be explained by another disorder, would be considered idiopathic hypers...

STUDY OBJECTIVES To review the clinical and polysomnographic characteristics of idiopathic hypersomnia as well as the long-term response to treatment. SETTING The Respiratory Support and Sleep Centre at Papworth Hospital, Cambridge, UK. PATIENTS AND DESIGN A large database of more than 6000 patients with sleep disorders was reviewed. A retrospective study of the clinical and polysomnographi...

Daytime sleepiness is common in myotonic dystrophy and might be attributed to disturbed nocturnal breathing. Seventeen out of 22 patients complained of excessive daytime sleepiness, resembling "idiopathic hypersomnolence". Sleep apnoea might have contributed to daytime sleepiness in only three of 17 patients. Treatment with the central stimulant methylphenidate produced sustained benefit in sev...