The review is devoted to one of the current problems of pediatric neurology - reading and writing disorders in children as part of a partial developmental disorder. With the development of neuroscience, the paradigm of «brain damage» in the understanding of a number of pathological conditions was replaced by the concept of «evolutionary neurology». The dominance of the ontogenetic approach caused the appearance of a new section in ICD-11 - «Neurodevelopmental disorders». Twenty-one genes associated with the acquisition of reading and writing skills have been identified. Modern studies demonstrate the connection of neuropsychological prerequisites for reading and writing, and clinical phenotypes of dyslexia with changes in specific loci. It is assumed that there are different molecular genetic bases for dyslexia and dysgraphia depending on ethnicity, orthographic features of language, including logographic features. Pleiotropy of genes is a cause of comorbidity of reading and writing disorders with attention deficit and hyperactivity disorder, specific speech articulation disorders, and dyscalculia. A key function of many of the identified genes is their involvement in the processes of neurogenesis. Their dysfunctions cause atypical neuronal migration, ectopic formation, inadequate axonal growth, and dendrite branching at the early stage of brain development. Morphological changes can distort the correct distribution and/or integration of linguistic stimuli in critical brain areas, leading to abnormalities in phonology, semantics, spelling, and general reading comprehension. The knowledge gained can form the basis for the development of risk models for dysgraphia and dyslexia formation and be used as a diagnostic and/or screening tool, which is important for evidence-based correction, optimization of academic performance, and mitigation of psychosocial consequences.

OBJECTIVE:To study the features of functional interzonal integration and its dynamics in infants from 0 to 9 months during prospective observation, taking into account the timing gestation, clinical picture and morphological changes on neurosonography (NSG).MATERIAL AND METHODS:A comprehensive unified examination was carried out in dynamics in 89 infants three times at the age of 3, 6, 9 months and included, in addition to assessing the neurological status, the Denver Developmental Screening Test (DDST), transfontanellar ultrasonography with a vector sensor according to the generally accepted method. We also evaluated the parameters of electroencephalography (EEG) recorded in the waking state with an analysis of background parameters, zonal differences, and the identification of pathological types of activity and calculation of the average coherence power (ACP). In accordance with the gestational age, infants are divided into two groups of full-term and premature babies.RESULTS:In the group of premature babies, the clinical picture in the neonatal period was dominated by cerebral ischemia of I and II degrees. The DDST parameters throughout the entire observation period did not reveal any deviations from the optimal development in all children. There were significant changes in functional connectivity (FC) in premature infants, which were more pronounced by 9 months. Functional hyperintegration was recorded in the intrahemispheric occipital-temporal and occipital-central regions bilaterally, in the anterofrontal-temporal leads on the left and in the interhemispheric anterofrontal regions. The ACP indicators were affected by changes in the NSG. An increase in ACP values in the occipitotemporal leads was associated with the presence of subependymal cysts in both preterm and full-term infants. Intraventricular hemorrhages and increased echogenicity in the periventricular zones in preterm infants were associated with an increase in coherence in the anterior frontal, left occipito-central, and temporo-anterofrontal leads.CONCLUSION:Thus, in preterm infants with cerebral ischemia of grades I and II, as well as in children with subependymal cysts, ACP indicators indicate hyperintegration of brain areas that are of fundamental importance for speech development and the formation of cognitive functions. Changes in the level of FC in the areas of the cerebral cortex in children with low gestational age, cerebral ischemia I and II, even at the optimal rate of motor and preverbal development, require further study, as it can reflect both the physiological processes of maturation in the postnatal period with transient deviations, and act as the role of possible early markers of future variants of deviant development.

This article discusses current concepts of the clinical features of sleep in children with attention deficit hyperactivity disorder (ADHD), along with sleep macrostructure, its cyclical organization, and the possible common pathways in the pathogenesis of sleep disorders and regulatory functions, and levels of social maladaptation of patients with ADHD. Typical features of children with ADHD are difficulty going to sleep and long times to onset of sleep (resistance to sleep time), increased sleep-related movement activity, including the association of ADHD with restless legs syndrome (RLS) and periodic leg movement during sleep syndrome (PLMS), and daytime sleepiness. The occurrence of circadian desynchronization in children with ADHD explains the link between the chronotype, the circadian typology, and the clinical signs of the syndrome. There are opposing data on the level of rapid eye movement (REM) sleep based on nocturnal polysomnography data in children with ADHD depending on age. However, changes in the proportion of REM sleep during the night are regarded as the leading factor in the pathogenesis of signs of ADHD. Common pathogenetic mechanisms are identified for sleep disorders and ADHD: a diversity of impairments to the metabolism of melatonin, dopamine, and serotonin, aggravation of “social jetlag,” and changes in blood iron and ferritin concentrations, which may explain the frequency of RLS and PLMS in children with ADHD. This group of patients displays changes in the number of sleep cycles during the night. Possible strategies for correcting sleep disorders in children with ADHD and their influences on the signs of ADHD are discussed.

Objective. The article analyzes the clinical features of sleep in preschoolers aged 3-7 years in the city of Perm on the basis of a continuous questionnaire method. Materials and methods. The presence of complaints related to sleep at the time of the survey was substantiated in 45 % of children of the younger age group (from 3 to 5 years) and 41 % of children in the older age group (from 5 to 7 years). Results. Sexual dimorphism manifested itself in a significant dominance of intrasomnic disturbances with frequent awakenings and increased motor activity during sleep in older boys. Nocturnal pains and / or cramps in the leg muscles prevailed in girls of the older age group. In the structure of parasomnias in Perm preschool children, there predominated nightmares (16.5 %), night fears (13.3 %), bruxism (14.8 %), sleepwalking (12.8 %), enuresis (8.2 %). Every fifth child of preschool age had sleep with an open mouth, snoring or puffing, hyperhidrosis during sleep and chronic adenotonsillar pathology, which does not exclude the presence of obstructive sleep apnea / hypopnea syndrome in this category of children. Conclusions. Sleep disorders were noted in a quarter of children under one year of age, manifested by difficult falling asleep, restless sleep and sleep inversion, which can be a marker of both disorders of maturation of chronobiological mechanisms and a high percentage of childhood behavioral insomnia.

A complex examination revealed the features of the development of higher cortical functions and sleep clinical features in preschool children with obstructive sleep apnea. Typical features were identified in the macrostructure of sleep and its cyclic organization in the children. Connective tissue dysplasia proved to act as a significant etiological factor in the pathogenesis of obstructive sleep apnea–hypopnea syndrome (OSAHS) in children. The effect of OSAHS on the cognitive development of children was investigated. Ontogenetic features were identified in the formation of OSAHS in preschool children. Signs of multicomponent and multilevel dysontogenetic syndrome were observed, including distorted maturation of basic higher cortical functions and alterations of the macrostructure and cyclic organization of sleep.

Behavioral insomnia is the most common sleep disorder in young children. It significantly reduces the quality of parent's life and is one of the common complaints to a pediatrician or neurologist. The basis treatment of childhood insomnia is behavioral therapy, which includes sleep hygiene, age-appropriate daily routine and sleep associations, stable bedtime routines, positive reinforcement, bedtime fading, scheduled awakenings. Although a systematic ignoring («crying it out») is effective and widely used in behavioral therapy, it has low compliance and its safety is insufficiently studied. Therefore, a systematic ignoring is not a priority method of behavioral therapy and should not be used in children under 6 months of age. Behavioral therapy of childhood insomnia is complemented by psychological and informational support from parents, and in some cases, drug therapy. Prevention includes education of expectant parents on baby sleep hygiene.

Objectives. To study the clinical and electroencephalographic characteristics of early infantile epileptic encephalopathy (EIEE) type 14, due to mutations in the KCNT1 gene. Materials and methods. Over the period 2017–2019, three unrelated girls (M.V. aged three years three months, T.V. aged nine months, and M.U. aged five months) with the clinical picture of infantile epilepsy with migrating focal seizures (IEMFS) were investigated and mutations in the KCNT1 gene were identified. New-generation DNA sequencing (Inherited Epilepsy panel) was run on an Illumina NextSeq 500 platform (USA). Video EEG monitoring was with an Encephalan Video system based on an Encephalan-RM RM-EEG-19/26 instrument (Medikom MTD, Russia). Results and conclusions. M.V. showed a previously undescribed mutation in exon 12 of the KCNT1 gene (chr9:138656907C>T) with amino acid substitution Arg356Trp. T.V. had a known mutation in chromosome 9, 138651532G>A with amino acid substitution of glycine by serine as position 288, i.e., Gly288Ser (OMIM: 608167.0010). M.U. showed a previously undescribed heterozygous mutation in exon 15 of the KCTN1 gene (chr9:138660712A>G), leading to an amino acid substitution in position 480 (Asp480Gly). In M.V., the onset of EIEE was at age four months with hypomotor dialeptic and tonic versive seizures. Epilepsy in T.V. started at age 4.5 months with hypomotor seizures with ophthalmoclonia and facial hyperemia. In M.V., neonatal convulsions were seen with bilateral tonic-clinic seizures and cyanosis, and subsequent development of status epilepticus with alternating hemiconvulsions. All girls went on to develop seizures of multiregional genesis to the level of migrating status epilepticus with the typical electroclinical picture of IEMFS. Thus, these findings lead to the conclusion that the KCNT1 gene may be the main gene determining the development of EIEE.

The article presents the modern view of etiology of the obstructive sleep apnoea/hypopnoea syndrome (OAHSS) in the children taking into consideration the ontogenetic stage and the principal mechanisms of its formation including the short-term and long-term consequences of sleep apnoea with special reference to the pathogenetic commonness of OAHSS with endothelial dysfunction, metabolic syndrome, cardiac disorders, and systemic chronic inflammation. The role of ENT diseases in the children with obstructive sleep apnoea is discussed. The results of genetic studies of the processes influencing the formation of the risk of development of sleep apnoea/hypopnoea syndrome and its outcomes in the children are discussed.

AIM:To study and compare clinical characteristics of sleep macrostructure and sleep cycle organization during the night polysomnographic study in children with attention deficit hyperactivity disorder (ADHD) and obstructive sleep apnea syndrome (OSAS) aged from 6 to 9 years.MATERIAL AND METHODS:Polysomnography was performed in 40 children with ADHD and 20 children with OSAS. The control group included 20 healthy children.RESULTS AND CONCLUSION:The changes in sleep architectonics were unidirectional. Typical for the two groups of children was an increase in the latency of REM sleep and a reduction of its duration in total time of sleep. In children with ADHD, there was a significant decrease in the total number of sleep cycles, with a significant increase in the duration of the first sleep cycle. For an objective assessment of the rhythmic organization of ultradian rhythms, the authors propose a formula to calculate the maturity index of sleep in children older than 6 years. From the standpoint of evolutionary neuroscience, results should be considered as manifestations of dysontogenesis.

The analysis of the components of cognitive evoked potentials in children with motor dysphasia compared to healthy children was conducted. Cognitive evoked potentials registration was performed on a 16-channel electroencephalograph «Neuron-Spectrum 4/EP». All children underwent two methods of P300 and MMN (mismatch negativity). Main characteristic of children with motor dysphasia was a significant prolongation of P300 latency, which indicated impairments in the processes of differentiation, memorizing and decision making. In 4 children with motor dysphasia there was no response in both hemispheres, which may indicate impairments of the processes of perception, recognition and further stimuli differentiation. The hippocampus contribution in the formation of P300 and its effect on mnemonic processes may indicate decrease of the random access memory amount in children with motor dysphasia.

The objective of the present work was to study peculiarities of the neurological, ororhinolaryngological status of the children presenting with obstructive sleep apnea syndrome (OSAS) as well as their clinical and polysomnographic (PSG) sleep characteristics. A total of 15 children at the age from 6 to 9 years with OSAS confirmed by the PSG study were included in the investigation. All the children suffered nasal obstruction of different etiology and non-specific neurological complaints of transient headache, emotional lability, impaired memory, enhanced fatigue, and poor attention; these conditions were responsible for school desadaptation. All the patients underwent dyssomnic events. The polysomnographic study revealed the disordered sleep structure manifested as the shortened drowsiness phase, lengthened latent period of the rapid eye movement (REM) sleep and its reduced representation in the overall sleep cycle, enhanced duration of delta-sleep. The sleep alertness time also increased alongside with a rise in the number of activations on the sleep electroencephalograms by virtue of increased respiratory efforts. A characteristic feature of the children presenting with obstructive sleep apnea syndrome was vegetative disorder during sleep associated with a rise in the number of tachycardia episodes. The results of this study facilitate the understanding of certain pathogenetic aspects of neurological problems in the children suffering respiratory tract obstruction and OSAS and outline the problems awaiting further investigations.

Speech occupies a special place in formation of cognitive functions. Delay in tempos of speech development can lead to disorders in formation of the highest mental functions. Aim. To study the character of space-time integration of cerebral zones in children with different variants of speech disontogenesis in the course of prospective study by the data of ECG coherent analysis. Materials and methods. 34 children aged 3-11 years were examined by means of quantitative ECG mapping and estimation of mean coherence indices. All children were divided into two groups: group I included children with dysarthria, group II - children with motor dysphasia of development. In each group there were two age subgroups. The first subgroup involved children aged 3-6 years, the second- children aged 7-11 years. Results. It was demonstrated that in process of ontogenesis, different space-time integration models of cerebral zones which determine different clinical pictures of speech dysfunctions were formed. High mean coherence values in preschool children’s left frontotemporal and frontocentral pairs are a positive factor for development of speech in process of ontogenesis. Conclusions. The obtained data give an opportunity to assess the adequacy of therapeutic and correcting measures in age dynamics.

Синдром дефицита внимания с гиперактивностью (СДВГ) — одна из частых причин социальной дезадаптации школьников [2, 4, 7]. Несмотря на имеющиеся публикации, посвященные СДВГ, остаются мало изученными дисфункции интегративных систем мозга, в структуре которых особое место занимают нарушения сна и бодрствования. Кроме того, изучение сна у детей нередко ограничивается клинической оценкой жалоб без объективной регистрации структуры сна с помощью полисомнографического исследования. Открытыми остаются вопросы взаимовлияния бодрствования, фаз медленного сна (ФМС), быстрого сна (ФБС) при развитии СДВГ. Являются ли нарушения сна при этом первичными, вторичными или коморбидными? Напомним, что существуют три фундаментальных состояния мозга, характеризующиеся совокупностью нейрофизиологических параметров и психической деятельности: бодрствование, ФБС (пародоксальный, REM-сон) и ФМС (ортодоксальный, NON REM-сон) сон [1, 6]. ФБС обеспечивает биологические механизмы психологической защиты, выбор коппинг-стратегий и закрепление путей решения поисковой задачи, осуществляет адаптацию к значимой информации. ФМС сопряжена с концентрацией соматотропного гормона, анаболическими процессами, функциональным созреванием нейронов, консолидацией следов памяти, что лежит в основе усвоения информации, оптимизации деятельности внутренних органов. Цель настоящего исследования — изучение клинических особенностей и структуры сна по данным полисомнографии у детей с СДВГ.