Abstract
Rett syndrome (RTT) is neurodevelopmental disorder with the onset at critical period
of postnatal ontogenesis and age dependent occurrence of clinical manifestations.
The aim of the present study was to investigate possible correlations of the age of
disease onset with clinical manifestations at the stage 3 of illness and neurobiological
parameters. The study was carried out in 38 girls with classical RTT, aged from 3
to 7 years, and twenty and eighteen patients with the disease onset before and after
the age of one year were divided into the groups 1 and 2 (Gr1 and Gr2), respectively.
Quantitative EEG (QEEG) and measurement of the serum levels of autoantibodies (AAB)
to nerve growth factor (NGF) were performed. Clinically, speech and motor functions
were significantly more severely affected in the Gr1 than in the Gr2. In QEEG, spectral
density of theta activity was significantly higher in Gr1 than in the Gr2. The titer
of AAB to NGF was significantly increased in comparison with healthy controls, and
the titer in Gr2 was higher than in Gr1.The data obtained suggests that patients with
the classical RTT can be divided into subgroups according to the age of disease onset
and genetic factors such as mosaicism of MeCP2 mutation may be associated with the
heterogeneity of phenotype in RTT patients.
Keywords
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© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
