N L Gorbachevskaia

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In the present study, the cytogenetic and molecular cytogenetic analysis of 90 children with autism and their mothers (18 subjects) was carried out. Chromosome fragility and abnormalities were found in four cases: mos 47,XXX[98]/ 46,XX[2]; 46,XY,r(22)(p11q13); 46,XY,inv(2)(p11.2q13),16qh-; 46Y,fra(X)(q27.3)16qh-. Using C-banding and quantitative fluorescent(More)
Clinical, pathopsychological and neurophysiological studies have been carried out in 85 children with infantile autistic psychosis and in 38 girls with Rett's syndrome. New improved differential diagnostic criteria between these two forms of early childhood autism have been suggested. EEG spectral density values in alpha-1, alpha-2, beta and theta subbands(More)
The level of autoantibodies (AAB) to nerve growth factor (NGF) was examined in blood of mentally healthy children, children with early children schizophrenia as well as with Kanner's and Asperger's syndromes too. The elevated titer of AAB to NGF was determined in blood of children with acute, active state of disease; meanwhile the same titer wasn't changed(More)
Combined clinical, psychologic and neurophysiological investigation was conducted in children with slow-progredient schizophrenia: with dominant affective disorders and hypomaniac states (Group I, 14 patients), and with predominant neurosis-like and psychopathy-like pathology (Group II, 12 patients). The patients distinctly differed in not only the clinical(More)
The EEG records of 39 healthy adolescents and 45 age-matched schizophrenic patients were analyzed. The broad-band EEG spectral analysis and segmental analysis of the alpha-activity revealed significant differences between the groups. Schizophrenics differed in a decreased spectral power for the alpha2 and betal frequency bands and increased power for the(More)
Increased central-parietal EEG theta-2 activity (about 6.5 per sec) was found in children with cognitive disorders (in Rett's syndrome, fragile X-syndrome, infantile autism) and in elderly patients with Alzheimer-type dementia (with prevalence of neuropsychological "frontal" disorders) in the presence of suppressed alpha rhythm. This theta-activity was(More)
The authors describe two sisters with the typical characteristics of cranio-metaphyseal dysplasia and mental retardation. They also discuss a cause-and-effect nature of the pathogenetic relationship of the intellectual deficiency and the systemic bone hereditary damage as well as the difficulty of assessing the type of heredity in the given family.
30 patients (4-22 years old) and their 12 mothers were examined by means of method of electroencephalography (EEG). Healthy individuals of corresponding age were included in the control group. EEG changes of the same type were observed in all the patients with syndrome of fragile X-chromosome: reduction of occipital alpha-rhythm, prevalence of theta-rhythm(More)
Ribosomal genes (RG), or genes for rRNA, are represented by multiple tandem repeats in eukaryotic genomes, and just a part of them is transcriptionally active. The quantity of active copies is a stable genome feature which determines the cell's capability for rapid synthesis of proteins, necessary to cope with stress conditions. Low number of active RG(More)