Rett Syndrome: Review of Biological Abnormalities

Microvascular abnormalities in Rett syndrome.

Rett syndrome (RTT) is a post-natal neurological disorder that represents the second most common cause for mental retardation. The presence of cold hands and feet, and blue, a feature frequently observed in these patients, is one of the non-neurological phenotypes that characterizes RTT, up to now not well explained. We have performed videocapillaroscopy in subjects affected by Rett syndrome. W...

EEG abnormalities aid diagnosis of Rett syndrome.

Nine girls with Rett syndrome had 22 electroencephalographic studies performed over 5 years. Nineteen walking tracings demonstrated moderate background slowing. Focal epileptiform activity was observed in 13 studies, 10 of which had bilateral independent foci. Spikes were invariably maximal in central regions, diphasic or triphasic, and of very short duration. In 3 patients, epileptiform activi...

Epileptiform abnormalities during sleep in Rett syndrome.

We recorded all-night electroencephalograms (EEGs)/polysomnograms on 2 consecutive nights from 4 children (ages 4-11 years) with Rett syndrome. The first 10 sec of each 60 sec epoch were analyzed with counts of left and right hemisphere spikes and correlated with sleep stage. Spike counts were lowest during wakefulness. Spikes were most frequent over parasagittal regions during all sleep stages...

Rett syndrome - clinical and biological aspects.

Rett Syndrome – an update Review

Rett syndrome is a progressive, usually sporadic and rarely familial, disabling neurodevelopmental disorder with onset in early childhood presenting clinically with mental retardation, behavioral changes, late movement disturbances, loss of speech and hand skills, ataxia, apraxia, irregular breathing with hyperventilation while awake, and frequent seizures. It occurs almost exclusively in femal...