AUTHENTIC ARTICLES
Background. Currently, more than 500 genes are known, in one degree or another associated with the development of the phenotype of congenital cerebral palsy (CP). The amount of accumulated data requires the sorting of the mechanisms of the influence of genes on brain development.
Aim. To compare the spectrum of determinants in groups of patients with CP, accompanied (CP+) and non-accompanied (CP–) by epilepsy.
Materials and methods. 154 children with a phenotype of cerebral palsy aged from 1 to 17 years old were investigated. Boys – 92, girls – 62. Genetic mutations were confirmed by the methods of next generation sequencing (NGS) in the study of venous blood samples. Genes with anomalies were distributed to the groups of determinants for the main aspects of the development and function of the brain. A total of 13 groups were created.
Results. In the CP– group, determinants of cell dividing, brain development and cytoskeleton were identified in 11 (61.1 %) cases. In 4 (22.2 %) cases, determinants of cell metabolism and external cell membrane transport were identified. In the CP+ group in 23.5 % of cases, determinants of cell division, brain development and cytoskeleton were revealed. The number of patients with anomalies of chromatin modifications, transcription and replication processes was significantly less (4.4 %). In 42 (30.8 %), the CP+ patients found determinants of excitability of the neuronal membrane and excitation transmission. In the cases of brain malformations in both CP– and CP+ groups determinants of cellular division, brain development and cytoskeleton were identified. Interest caused cases of brain malformations with anomalies of genes of the channelopathy.
Conclusions. Our data suggests the difference between pathogenetic models CP+ and CP–. The fundamental difference of them is the presence of genes regulating the excitability of the neuronal membrane in CP+ group.
Aim. To reveal relation of change in intraoperative electroencephalography (EEG), electrocorticography (EсoG) with age of patients, the anamnesis duration, localization and type of pathology, the result of treatment.
Materials and methods. 64 patients with symptomatic epilepsy operated at N.N. Burdenko National Medical Research Center of Neurosurgery of the Ministry of Health of Russia from 2010 to 2016. 28 males, 36 females, age from 3 months to 18 years, on average 7,2 years. The pathology localization: temporal – 21 cases, occipital and parietal – 18, frontal – 25. Pathomorphology: 12 patients with focal cortical dysplasia (FCD) I, 20 patients with FCD II, 5 patients with FCD III, 4 patients with tuberous sclerosis, 20 patients with low grade tumors, and 3 cases else. The duration of disease
is from 61 to 5081 days. Catamnesis (follow-up) ranged from 364 to 1877 days. There was four criteria for including patients in research: intraoperative EEG, presence of initial and control registration of EсoG, follow-up above 364 days. There are three hallmarks selected as significant concerning the efficiency of neurophysiological monitoring: 1) the positive changes in scalp EEG: decrease of interhemispheric asymmetry due to reduction of slow activity on the side of pathology; significant reduction of the unilateral epileptiform activity on the side of pathology and bilateral if exist; 2) the positive changes in EсoG: significant reduction of the regular epileptiform activity; 3) the absence or existence of residual epileptiform activity in adjacent to resected pathology sites. The statistical processing carried out with application of a Stat10 package.
Results. The more expressed positive dynamics of EEG were revealed in patients of smaller age already during operation. A correlation was found between the age of patients and the positive dynamics of intraoperative EEG. An inverse correlation was found between the duration of the disease and the positive dynamics of the scalp EEG during surgery (p = 0.1560). The EEG changes during surgery were shown more often with reduction of the seizure anamnesis. There was found out that residual epileptiform activity on ECoG occurred more often at patients with longer anamnesis of a disease and at patients with frontal localization of pathology. The residual epileptiform activity on ECoG was registered more often at patients with preservation of seizures (outcomes 2, 3, 4, 5 ILAE).
Conclusions. During resective interventions for symptomatic epilepsy in children the probability of positive changes was the more, the younger the patient was. Intraoperative ECoG is one of the useful tools in epilepsy surgery, but it does not definitely determine success. There was no statistically significant relationship between the presence of residual epileptiform signs on the ECoG in the cortex adjacent to the removal area and the outcome of surgical treatment for seizures. Patients in follow-up had three times fewer seizures in the absence of residual epileptiform activity on the ECoG of adjacent to the resected areas of the cortex. The dependence is statistically insignificant. Removal of FCD type III and tumors is accompanied by a more complete elimination of epileptiform activity than FCD I, the level of statistical significance of p = 0.0305.
This article analyzes the dynamics of early comprehensive psychological and pedagogical care for children aged 3 years with autism spectrum disorders (ASD) using the DIR/Floortime approach. The experimental group included 18 ASD patients aged 3 years who attended a special program in Svt. Luka’s Center for Health and Development (Moscow) on a regular basis (2–3 times a week). The comprehensive program included weekly individual classes of 4 types: Floortime therapy, kinesotherapy with elements of sensory integration, game speech therapist-defectologist, and sensory-gaming group. The control group included 19 ASD patients aged 3 years who did not attend special classes. We used the Vineland Adaptive Behavior Scale (VABS) and Functional Emotional Assessment Scale (FEAS) for examination. Children were examined at baseline and after 3 months. We found that children from the experimental group had a significant positive dynamics in their communication skills, daily living skills, motor development, desire for emotional contact, communicative initiative, and two-way interaction. Children from the control group did not demonstrate any significant dynamics of these parameters.
Background. The term “postcovid syndrome” is firmly entrenched in medical terminology, but many aspects of its clinical manifestations are not well understood.
Aim. To establish the presence of the nature and severity of changes in the bioelectrical activity of the brain in COVID-19 survivors, as well as their relationship with the formed clinical neurological and neuropsychological syndromes during convalescence.
Materials and methods. A dynamic study was conducted of 38 COVID-19 survivors returning to work. Neurophysiological studies were carried out using the EGI-GES-300 system (128 channels). The descriptive characteristics of electroencephalograms were built on the method of studying the spectral density of the electroencephalographic signal on the surface of the scalp, and the dynamic characteristics of the signal were studied by fixing electroencephalographic microstates, using the method of D. Lemmon and T. Kenning.
Results and conclusions. In the study, a relatively new diagnostic technique for studying cognitive impairments based on the analysis of electroencephalographic microstates was implemented, which made it possible to identify signs of functional restructuring of the neuronal macronetworks of the brain and trace the characteristic adaptation of a person during the period of convalescence.
This article outlines the current concept of attention deficit hyperactivity disorder (ADHD) pathogenesis from the standpoint of neuroanatomy and impairments of neurotransmitter metabolism. N-acetyl-aspartate and N-acetyl-aspartyl-glutamate are crucial for ADHD development. These substances are involved in the interaction of neuronal networks, myelin maturation, and functioning of excitatory neurotransmitters (glutamatergic system). The active substance of Cogitum is a synthetic analogue of N-acetyl-aspartate. We analyzed the efficacy of Cogitum in 249 ADHD children with or without subclinical epileptiform activity on the electroencephalogram (children with cerebral palsy and epileptic seizures were excluded). Cogitum was most effective in improving attention, memory, and speech. None of the children had aggravation of epileptiform activity or developed epileptic seizures during treatment. Therefore, Cogitum is a safe drug to alleviate ADHD manifestations in children with subclinical epileptiform activity on the electroencephalogram.
REVIEWS AND LECTURES
Mitochondrial dysfunction mainly affects organs with high metabolic demand, primarily the brain. Epilepsy is a common phenotypic sign of both syndromic and non-syndromic mitochondrial diseases. Epilepsy in mitochondrial diseases is poorly treatable and is often an unfavorable prognostic sign. Patients with mitochondrial epilepsy are prescribed various anti-seizure medications. Mitochondriotoxic drugs should be avoided. Descriptions of MELAS-syndrome, MERRF-syndrome, Leigh-syndrome, NARP-syndrome are given.
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