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N L Gorbachevskaya

Publications and source records attributed to N L Gorbachevskaya.

6 recordsLinked to original sources
PubMed2001

Clinical, neurophysiological and immunological correlations in classical Rett syndrome.

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.

Age of Onset↗
PubMed1998

EEG mapping in children with different dermatoglyphic patterns.

This study is an attempt to analyze the relationships between EEG and dermatoglyphic patterns (DP) in 6-8 years girls. EEG-mapping was carried out in 80 healthy girls with different types of DP in 6 frequency band: delta, theta, alpha-1, alpha-2, alpha-3 and beta. Certain connection of the palmar and finger patterns with the EEG characteristics was revealed. The most pronounced differences were observed between subgroups with prevalence (8 and more) or absence of whorls on their hands fingertips, and between groups with presence or absence of certain pattern (whorl, loop or vestige) on thenar/interdigital 1 area (Th/1). Significant (p<0.05) increase of spectral density in alpha-2 and alpha-3 bands in children with whorls on hand fingertips were revealed in the first case. EEG of children with Th/1 pattern differed from the group without such pattern by increased spectral density in alpha-2, alpha-3 and beta bands. The new data obtained support the genetic determination of the EEG.

Alpha Rhythm↗
PubMedDate not supplied

Speech and motor disturbances in Rett syndrome.

Rett syndrome is a severe, genetically determined disease of early childhood which produces a defined clinical phenotype in girls. The main clinical manifestations include lesions affecting speech functions, involving both expressive and receptive speech, as well as motor functions, producing apraxia of the arms and profound abnormalities of gait in the form of ataxia-apraxia. Most investigators note that patients have variability in the severity of derangement to large motor acts and in the damage to fine hand movements and speech functions. The aims of the present work were to study disturbances of speech and motor functions over 2-5 years in 50 girls aged 12 months to 14 years with Rett syndrome and to analyze the correlations between these disturbances. The results of comparing clinical data and EEG traces supported the stepwise involvement of frontal and parietal-temporal cortical structures in the pathological process. The ability to organize speech and motor activity is affected first, with subsequent development of lesions to gnostic functions, which are in turn followed by derangement of subcortical structures and the cerebellum and later by damage to structures in the spinal cord. A clear correlation was found between the severity of lesions to motor and speech functions and neurophysiological data: the higher the level of preservation of elements of speech and motor functions, the smaller were the contributions of theta activity and the greater the contributions of alpha and beta activities to the EEG. The possible pathogenetic mechanisms underlying the motor and speech disturbances in Rett syndrome are discussed.

Adolescent↗