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Marschik, PB; Lanator, I; Freilinger, M; Prechtl, HFR; Einspieler, C.
Early Signs and Later Neurophysiological Correlates of Rett Syndrome
KLIN NEUROPHYSIOL. 2011; 42(1): 22-26.
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Authors Med Uni Graz:
Einspieler Christa
Marschik Peter
Prechtl Heinz

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Rett syndrome, first described by the Austrian neurologist Andreas Rett (1966), is a profoundly disabling neurodevelopmental disorder that is almost entirely confined to females. The mutations in the X-linked gene MECP2, which were identified as the main cause for Rett syndrome, span a broad spectrum of phenotypes - from classic Rett to milder variants with better speech, language and motor abilities (preserved speech variant; PSV). On the other hand, there are also patients with Rett syndrome caused by mutations in other genes (e.g., FOXG1, CDKL5) as well as patients with MECP2 mutations who show no clinical signs. Therefore, the clinical criteria of this disorder are of utmost importance for its early identification and delineation. Although an apparently normal early development had initially been regarded as one of the criteria for classic Rett syndrome, various scientists considered the disorder to be a developmental disorder that manifests shortly after birth. Affected girls usually follow a four-stage developmental trajectory, with most of them undergoing a profound deterioration of neurofunctions (pre-regression period, regression period/rapid destructive stage, the pseudo-stationary stage, and the late deterioration stage). Our aim is to give an insight into the delineation of early signs of this developmental disorder as well as its various neurophysiological correlates. It is thus a contribution to early detection for early clinical trials, and is based on the detailed longitudinal research that we have been conducting so far.

Find related publications in this database (Keywords)
brain development
early signs
Rett syndrome
developmental disorder
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