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Thoracic outlet syndrome (TOS) is challenging to diagnose of it`s different etiology and pathophysiology. For now, all the physical examinations and investigations lack sensitivity and/or specificity. Recent efforts have been made to more clearly define a set of diagnostic criteria that will bring consistency to the diagnosis of TOS. Surgical management remains the mainstay of operative treatment for all patients, who have failed conservative therapy, because of it`s low efficiency.This article aims to review the etiology and pathophysiology, clinical presentations, diagnosis, and management of thoracic outlet syndrome.

Gangliogliomas are known to be rare and mainly slow-growing benign primary central nervous system tumors, most frequently occurring in children and young adults. They are the most common epilepsy-associated tumors, which frequent location is the temporal lobe. Surgery often seems to be the best approach in controlling seizures in such patients. This paper deals with a rare case of ganglioglioma in a young adult patient with a temporal lobe tumor associated with neuronal heterotopy of white matter, but without epilepsy. Long-term dynamic observation including in-depth clinical, electroencephalographic, radiologic, and postsurgical histologic examination confirmed the documented neoplastic process without any manifestation of seizures over ten years. Surgical intervention was based on the results of a multimodal radiological examination, which demonstrated the presence of neoplasm in the structure of the pathological substrate of unclear etiology.

Dyslexia is the most common form of specific learning disabilities. Dyslexia is observed in 5-17.5 % of schoolchildren, and among children with specific learning disabilities, it accounts for about 70-80 %. Usually, dyslexia manifests itself as the inability to achieve an appropriate level of reading skills development that would be proportional to their intellectual abilities and writing and spelling skills. Secondary consequences of dyslexia may include problems in reading comprehension and reduced reading experience that can impede the growth of vocabulary and background skills. The review discusses neurological management of reading and writing as complex higher mental functions, including many components that are provided by various brain areas. The principles of dyslexia classification, the main characteristics of its traditionally defined forms are given: phonemic, optical, mnestic, semantic, agrammatic. The article analyzes the cerebral mechanisms of dyslexia development, the results of studies using neuropsychological methods, functional neuroimaging, and the study of the brain connectome. The contribution to dyslexia development of disturbances in phonological awareness, rapid automated naming (RAN), the volume of visual attention (VAS), components of the brain executive functions is discussed. The origin of emotional disorders in children with dyslexia, risk factors for dyslexia development (including genetic predisposition) are considered. Dyslexia manifestations in children are listed, about which their parents seek the advice of a specialist for the first time. In the process of diagnosing dyslexia, attention should be paid to the delay in the child’s speech development, cases of speech and language development disorders and specific learning disabilities among family members. It is necessary to consider possible comorbidity of dyslexia in a child with attention deficit hyperactivity disorder, dyscalculia, developmental dyspraxia, disorders of emotional control and brain executive functions. Timely diagnosis determines the effectiveness of early intervention programs based on an integrated multimodal approach.

Hereditary and congenital pathologies make up a significant proportion in the structure of the general morbidity and mortality of the child population. In this regard, the problem of personalized medical care in multidisciplinary clinical centers seems very urgent. In the Scientific-Practical Center of specialized medical care for children the medical genetic service successfully functions since 1995. In 2017–2019, patients were consulted by geneticists, which accounted for 10,6% of all discharged patients; karyotype studies were performed in 463 (20,4%) consulted patients, chromosomal pathology was revealed in 28 (6,04%) of all karyotyped patients. DNA research was performed in 188 patients: exome sequencing – in 112; sequencing of exons of the SCN1A gene – in 39; search for mutations in the PHOX2B gene – in 17; search for frequent mutations in the FGFR1,2,3 genes – in 15 (the technique was introduced since September 2018); sequencing of SLC2A1 gene – in 5 patients. The high demand for medical genetic counseling and laboratory genetic diagnosis of hereditary and congenital diseases confirms the need for independent medical genetic units in multidisciplinary clinical hospitals, that should interact with medical genetic services at regional and federal levels.

We present the clinical case of patient with epilepsy, developmental retardation and hearing loss. The whole exome sequencing allowed to reveal compound heterozygous variants of the nucleotide sequence in SPATA5 gene (c.1714+1G>A, c.1678G>A). Mutations in the SPATA5 gene have been described in patients with epilepsy, hearing loss and mental retardation syndrome (MIM 616577). Paired parents were carriers of one heterozygous gene variant. Such mutations lead to the development of epileptic disorders in 3% of cases, and should be considered in patients not only as a possible cause of neurodegenerative diseases, but also leading to pathology with clinical manifestations mimicking mitochondrial disease.

Introduction. Late and inaccurate diagnosis of tension-type headache (TTH) leads to the lack of timely rational treatment. In children and adolescents with TTH, the role of comorbid disorders that affect the course of TTH and can contribute to their chronification is not sufficiently taken into account. Meanwhile, with timely diagnosis and adequate treatment of TTH in many children and adolescents, a significant improvement in the disease’s course and the prognosis is achieved, and clinical remission is possible. Considering the high prevalence of TTH among children and adolescents, the decline in their quality of life, and the high frequency of comorbid disorders, it is reasonable to develop effective methods of preventive treatment for TTH in this age group. The aim of the study was to evaluate the effectiveness of monotherapy with γ-amino-β-phenyl butyric acid hydrochloride, amitriptyline, or breathing gymnastics (comparison group) indicated for two months as a preventive treatment of TTH in children and adolescents in the open randomized comparative study in three parallel groups of patients. Material and methods. In an open parallel study, 90 TTH patients aged 8-16 years were divided into three groups of 30 patients (each with 15 boys and 15 girls). Results. Significant differences with the comparison group in the individual response to therapy were confirmed. According to the criterion of a 50% or more reduction in the average number of headache attacks per month in group 1 (γ-amino-β-phenyl butyric acid hydrochloride), the improvement was achieved in 56.7% of patients, in group 2 (amitriptyline) - in 73.3%, in the 3rd group (breathing gymnastics) - in 30%. According to a more strict criterion for reducing the average number of headache attacks per month by 75% or more, the response to therapy was observed in group 1 in 30%. In group 2 - in 23.3%, in group 3 - in 3.3% of patients. In groups 1 and 2, along with a significant decrease in the frequency, duration, and intensity of TTH attacks, a significant improvement in daily activity, a favorable effect on the manifestations of fatigue, anxiety disorders, and sleep disorders associated with TTH was demonstrated. The therapeutic efficacy of breathing gymnastics exercises complex was confirmed in the prevention of TTH with frequency, duration, and intensity reduction of TTH, and diminishing its impact on daily activity, a moderate decrease in manifestations of fatigue, anxiety disorders (by patients’ self-assessment), and improvement in sleep quality.

Introduction. MRI revealing the epileptogenic foci is the central part of the presurgical evaluation of children with focal-resistant epilepsy. Besides that, MRI seems to be a reliable instrument of treatment optimization and good prognosis. Aim. To identify epileptogenic lesions in children with resistant focal epilepsy by high resolution (HR) MRI and comparing obtained data with postsurgical morphology. Materials and methods. We assessed the results of neuroimaging, EEG, clinical neurological status, and postsurgical morphological data in 65 children with focal epilepsy who had undergone antiepileptic surgery in Russian State Children Hospital, neurosurgery department (Moscow, Russia) from 2016 to 2020. Results. The broad spectrum of epileptogenic lesions was revealed by HR MRI, including focal and diffuse cortical dysplasias (44.6%), cortical post hypoxic gliosis (27.7%), glial tumors (7.7%), Rasmussen encephalitis (10.8%), tuberous sclerosis, and Sturge-Weber syndrome (3%), small angiodysplasias (4.6%) and other. Focal cerebral dysplasia had an obvious superiority as the main etiological factor in focal epilepsy and was approved in 33.8% of all patients. In all cases, epilepsy is characterized by frequent and resistant seizures, inflicting motor arrest, and psycho-emotional deterioration. Conclusion. HR MRI and multidisciplinary investigation have to be unchangeable standards in the presurgical evaluation of children with focal epilepsy. This approach’s effectiveness has reassuring confirmation by high level (95.2%) of total coincidence MRI and morphological results.

Merosin-deficient muscular dystrophy is the most common form of congenital muscular dystrophies (СMD), characterized by genetic heterogeneity and a severe course in most cases. CMD pathogenesis is associated with a partial or complete absence of laminin 2 chains in the basal membrane of muscle fiber caused by a mutation in theLAMA2gene. The clinical manifestations of LAMA2-associated muscular dystrophy vary from severe СMD (СMD 1A) with an early onset to a relatively mild course with a late onset and phenotype of limb-girdle muscular dystrophy. CMD type 1A is characterized by a delay in motor development from the first months of the life (while the vast majority of children do not master the ability to walk independently), facial muscles weakness, ptosis, ophthalmoplegia, spine rigidity, early occurrence of contractures in the shoulder, elbow, hip and knee joints, restrictive respiratory disorders, nutritional problems, such as disorders of swallowing and chewing, gastroesophageal reflux, low body weight; some children suffer from mental retardation and epilepsy.

Aim. To approve of diagnostic effectiveness of SWAN (SWI) images in revealing of calcium containing epileptogenic substrates in children with resistant focal epilepsy.Materials and methods. The results of MRI in children with refractory focal epilepsy obtained in the Radiology Department of the Russian State Children Hospital in the period from 2018 to 2020 were observed retrospectively. High-resolution epileptological MR protocol used for investigation of 67 children. SWAN was applied in all cases for identification of calcium containing epileptogenic substrates, including cavernomas, DVA syndrome, cortical gangliogliomas, Sturge-Weber syndrome and tuberous sclerosis complex. All images were received by using MRI 3T 750 W Discovery GE.Results. In 17 cases (25%) SWAN provided important diagnostic information about the nature of the of epileptogenic lesion, its prevalence and borders. Additional earlier invisible structural changes were revealed in 2 cases of SWS and 1 cases of FCD; and in 13 cases SWAN gave us possibility to avoid CT for approving calcium in epileptogenic focus.Conclusion. We believe that adding SWAN in to the epileptological MR protocol is the necessary step for optimizing calcium and blood degradation products identification in the structure of potential epileptogenic focuses. Moreover, it would be very effective instrument for differential diagnosis of cerebral structural changes, specifying its etiology and, hence, would have influence on the therapeutic tactic and surgical strategy in children with focal epilepsy.

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.

Tuberous sclerosis is one of the genetically determined neurodermal syndromes, characterized by focal epilepsy, which is resistant to drug therapy in most cases. Tuberous sclerosis has not been surgically treated for a long time due to the multifocal nature of brain damage. However, using new instrumental methods the surgeon can isolate tuber – “drivers”, responsible for epileptic induction, which, therefore, can be a target for surgical removal. The article presents a clinical case of the treatment of pharmacoresistant epilepsy in a 17-year-old girl with tuberous sclerosis and normal neuropsychiatric and cognitive status; the surgeon managed to achieve a complete regression of seizures after the surgical removal of one of the tubers. Using a multimodal complex of examinations, including high-resolution magnetic resonance imaging and invasive electroencephalographic monitoring, the surgeon managed to identify the “inductor” tuber associated with the epileptic initiation zone among multiple cortical tubers. This section of the cerebral cortex was subjected to surgical resection. For the entire postoperative period (16 months) there were no seizures and antiepileptic drugs were canceled; cognitive processes, memory were improved. Thus, active surgical tactics may be effective in more than 50% of patients with tuberous sclerosis and pharmacoresistant epilepsy. This case confirms the need for a multidisciplinary examination prior to the surgery in patients with tuberous sclerosis.

Hereditary neuromuscular diseases (HNMD) represent a large group of heterogenic morbid conditions, characterized by muscular weakness, muscular atrophies, disturbances of postural control and locomotor functions. Scientific research on HNMD, performed by academician L.O. Badalyan and his followers laid the background for solving many issues, regarding the diagnosis and treatment of these severe, progressive diseases. In many ways, academician L.O. Badalyan and his followers have anticipated the current understanding of pathogenic mechanisms of HNMD, which later were disclosed by means of modern molecular-genetic technologies. HNMD include progressive muscular dystrophies (PMD), spinal muscular atrophies (SMA), hereditary motor and sensory neuropathies, myopathic syndromes. The most prevalent progressive HNMDs are represented by dystrophinopathies (Duchenne PMD and Becker PMD) and limb girdle HNMD. The authors discuss experience and achievements in the studies of HNMDs and PMDs, conducted by academician L.O. Badalyan and his followers, as necessary prerequisites for the creation of modern approaches to genetic diagnostics of the diseases and forming their genetic registries, development of methods of etiopathogenetic therapy. Thanks to the accumulated experience and research there were discovered genes, which determine the HNMD development, pathogenic mechanisms of diseases with heterogenic clinical manifestations were studied. The data were accumulated for the formation of patients registries, determining groups for which a particular drug is being developed. The progress in genetic research has made it possible to identify more than 30 forms of limb-girdle PMD. A newly published classification of limb-girdle PMD is given, illustrating their genetic heterogeneity, the type of inheritance, the genetic locus of the mutation and defective protein are now taken into account. The article lists promising current global trends in the development of approaches to pathogenetic therapy of dystrophinopathies and limb-girdle PMD.

Introduction. Cortical dysplasias (CDs) encompass a wide variety of disorders that in most cases lead to epilepsy, especially in infants and young children. MRI diagnosis of CDs is a major part of presurgical examination of pediatric patients with resistant focal epilepsy.Aim. To identify MR markers of CD in the immature brain and develop an MRI protocol for early diagnosis of CDs.Materials and methods. Children aged Results. The rate of detection of small-size cortical malformations, such as nodular heterotopies or focal cortical dysplasias was significantly higher in groups of patients whose brains (according to MR images) were at the infantile or adult phases of myelination. In children with the isointensive phase myelination, only large cortical dysplasias could be identified. In the first phase, the focal malformations had low amplitude signals in T2-weighted images and high amplitude signals in T1, unlike those in adult patients. In the isointensive phase, the quality of visualization was significantly reduced and provided poor diagnostic information.Conclusion. The results confirm the diagnostic significance of early (before age of 5 months) MRI testing in cases with suspected CD-associated focal epilepsy. However, at the period between 5 and 12 months of age, MR imaging was ineffective for CD diagnosing. Later, in the period from 12 to 15 months, the MRI ability to identify the CDs gradually increased. We consider the standard T2 weighted images with high TR values, the most effective MR modality for diagnosing CDs in young children.

Objective: to analyse the clinical and neurophysiological data from a case of early infantile epileptic encephalopathy type 16 in a child with homozygous mutation in TBC1D24 gene. Material and methods . Female child M. aged 1 year and 2 months, with identified mutations in TBC1D24 gene was examined. The whole exome sequencing was performed (Next Generation Sequencing with the Illumina HiSeq 1500 platform, USA). Dynamic video-EEG monitoring was conducted with a “Encephalan-Video” RM-19/26 instrument (“Medicom MTD”, Russia). Results . According to the patient history, on the 22nd day of life, the child developed vocalisms with tonic tension of the limbs. At her 2 months of life, focal myoclonia and myoclono-clonies were noted; at her 4 months – return of tonic seizures with vocalisms followed by eyelid myoclonus, perioral myoclonus, ophthalmoclonia, alternating hemiconvulsions and tonic-clonic seizures. The family history of epilepsy was negative; the parents denied any consanguinity, but admitted a chance of being distant relatives. Neurological examination revealed hypotonic-astatic syndrome and psycho-motor retardation. A video EEG monitoring test detected multiple EEG negative multifocal myoclonic episodes in combination with dystonic hyperkinesia and motor automatism. Although typical epileptiform spike-wave discharges were rare, a focus of low-index spike-wave complexes was identified in the left temporal zone. Therapy with valproates, barbiturates and levetiracetam did not produce any significant effect but benzodiazepines (clonazepam) caused a moderate improvement; a switch to clobazam therapy was then recommended. This case of inherited developmental and epileptic encephalopathy was defined as early infantile epileptic encephalopathy type 16 (OMIM#615338) with autosomal recessive inheritance associated with a previously not described homozygous mutation of the TBC1D24 gene, chr:16:2546775 A>C that caused Tyr209Ser amino acid substitution. Pre-conception testing of the TBC1D24 gene under the IVF condition is recommended to the parents. Discussion . Since 2010, a few variants of early infantile epileptic encephalopathy type 16 caused by homozygous mutation of the TBC1D24 gene have been described in the literature. This clinical case is closer to progressive myoclonic epilepsy with dystonia (PMED), which indicates the nosological autonomy of this form of epilepsy. С onclusion . Children with pharmacoresistant epilepsy and epileptic encephalopathies, as well as those with unusual course of these diseases need genetic assessment with the new generation exom sequencing techniques – such as the “hereditary epilepsy” panel, as well as clinical and full-exom sequencing. All authors contributed equally to this publication.

Objective . Study the clinical and neurophysiological evolution of early infantile epileptic encephalopathy type 4 (EIEE4) caused by a STXBP1 gene mutation. Material and methods. During 2016-2019, we conducted dynamic observation and treatment of a girl with EIEE4 combined with a mutation in the STXBP1 gene. DNA sequencing was performed using the "Hereditary epilepsies" panel (Next Generation Sequencing on the platform of Illumina HiSeq 2500, USA). Dynamic video-EEG monitoring was performed with an “Encephalan-Video" RM-19/26 ("Medicom MTD“, Russia). Results. In this 3.5 y.o. patient with infantile epileptic encephalopathy, a heterozygous autosomal dominant de novo mutation in the STXBP1 gene was found. This mutation (not described previously) is located in chromosome 9, specifically, in the 20th exon with genome coordinates Chr9:130453 (C.*96T>A). This child suffered from severe neonatal hypoxic-ischemic encephalopathy, which led to spastic cerebral palsy. In addition, she developed seizures as early as at the age of 6 month; the seizures (flexor tonic spasms) were paralleled with EEG changes similar to the Mar-kand-Blume-Ohtahara syndrome, namely, multiple independent spike-wave foci in combination with the partial attenuation pattern (kind of the "burst-suppression" pattern). Valproate monotherapy had little effect, and hormonal treatment caused a temporary improvement. Permanent clinical remission with no seizures was achieved by including leveti-racetam in the therapeutic combination. A number of studies demonstrated a high efficacy of levetiracetam in cases of STXBP1 gene mutations. At the age of 2,5years, the girl demonstrated changes in her EEG records toward the continuous spike-wave during sleep (CSWS) pattern with the morphology of "benign epileptiform discharges of childhood" ("BEDC"). Conclusions. In spite of the aggravated perinatal anamnesis, children with epileptic encephalopathy need genetic examination using the Next Generation Sequencing (NGS) methods (such as "Hereditary epilepsies" panel), combined with full exome sequencing. Such genetic examinations are helpful for establishing the exact etiology of epilepsy and developing a personalized approach to antiepileptic therapy.

Consequences of traumatic brain injury (TBI) in children and adolescents pose a major medical and social problem, as TBI interferes with neuro ontogenesis. Among these consequences, paroxysmal disorders that manifest in the long-term after TBI represent an important issue. These disorders include posttraumatic headaches, posttraumatic epilepsy and subclinical epileptiform EEG activity. In this review, clinical manifestations, pathophysiology and management of the long-term post-TBI paroxysmal disorders in children and adolescents are discussed.

On the example of the diagnosis of the structural basis of focal epilepsy in an adult patient, the possibilities of a multimodal and interdisciplinary approach to diagnosis, combining the latest methods of neuroimaging with the results of neurophysiological examinations, are considered. The interaction and high qualification of specialists in epileptology, neuroradiology and pathomorphology provide a high probability to determine the cause of the focal forms of epilepsy. Along with the introduction of super-inductive MR systems, it is important to use their capabilities correctly and optimize the scanning protocol for the individual characteristics of the patient. With a long-term pharmacoresistant course of focal epilepsy, accompanied by low quality of life, the progression of neurological deficits and the aggravation of cognitive and personality problems in patients, it becomes obvious that these patients, even with negative results of standard MRI, are candidates for a more in-depth comprehensive examination to identify the structural basis of epileptogenesis and subsequent epileptic surgery. However, the problem of epilepsy pseudoresistance should be considered, when a patient with uncontrolled seizures takes antiepileptic drugs for a long time in inadequate dosages. Modern comprehensive diagnostics offers new rational approaches to antiepileptic therapy indication on the part of the doctor, as well as to improve the patient's compliance to the treatment.На примере диагностики структурной основы фокальной эпилепсии у взрослого пациента рассматриваются возможности мультимодального и междисциплинарного подхода к диагностике, совмещающего новейшие методы нейровизуализации с результатами нейрофизиологических обследований. Взаимодействие и высокая квалификация специалистов в области эпилептологии, нейрорадиологии и патоморфологии с большой вероятностью позволяет установить причину развития фокальных форм эпилепсии. Наряду с внедрением супериндуктивных МР-систем важное значение имеет правильное использование их возможностей и оптимизация протокола сканирования под индивидуальные особенности пациента. При длительном фармакорезистентном течении фокальной эпилепсии, особенно на фоне низкого качества жизни, прогрессирования неврологического дефицита и усугубления когнитивных и личностных проблем у пациентов, становится очевидным факт, что эти пациенты даже при негативных результатах стандартной МРТ являются кандидатами для более углубленного комплексного обследования с целью идентификации структурной основы эпилептогенеза и последующей эпилептической хирургии. Однако следует отметить так называемую проблему псевдорезистентности эпилепсии, когда пациент с неконтролируемыми приступами длительное время принимает противоэпилептические препараты в неадекватных дозах. Современная комплексная диагностика позволяет предложить новые рациональные режимы противоэпилептической терапии, а также улучшить комплаентность пациента.

To study the therapeutic efficacy of two treatment modes of peptidergic nootropic medication cortexin in children with developmental dysphasia aged 3-4 years.Ninety-four children with developmental dysphasia were divided into three groups. In group 1 (27 patients), cortexin was administered once a day intramuscularly for 10 days. After this course, the children were not prescribed drug therapy, a second examination was carried out 2 months after the start of treatment. In group 2 (40 patients), two courses of cortexin were administered at 1-month intervals, and the children were also followed up for two months. Control group 3 (27 patients) did not receive medication, but was also followed up for two months. All the parents were provided with recommendations for the stimulation of speech development in children. Before the study and two months later, speech development was assessed with special scales and questionnaires for parents.The increase ratio of the active vocabulary volume by 2 times or more was observed in group 2 (two courses of cortexin treatment) in 80.0% of patients (significant differences with groups 1 and 3,The results of the study confirm the higher effectiveness of two courses of the peptidergic nootropic medication cortexin in the pharmacotherapy of developmental dysphasia in children, aged 3-4 years, conducted over two months, compared with the indication of one treatment course.Оценить терапевтическую эффективность двух режимов терапии пептидергическим ноотропным препаратом Кортексин при дисфазии развития у детей в возрасте 3—4 лет.Обследованы 94 ребенка с дисфазией, распределенных на три группы. В 1-й группе (27 пациентов) проводился курс лечения Кортексином: 1 раз в сутки внутримышечно ежедневно в течение 10 дней. После этого курса детям не назначалась лекарственная терапия, повторное обследование осуществлялось через 2 мес от начала курса Кортексина. Во 2-й группе (40 пациентов) проведено два курса Кортексина с интервалом 1 мес, дети также наблюдались в течение 2 мес. Третья группа сравнения (27 пациентов) не получала медикаментозной терапии, но также наблюдалась в динамике в течение 2 мес. Родители всех пациентов получали рекомендации по стимуляции речевого развития у детей. Перед началом лечения и через 2 мес оценивали состояние речи детей по шкалам речевого развития и специальным опросникам для родителей.Кратность увеличения объема активного словаря в 2 раза и более отмечена во 2-й группе (2 курса лечения Кортексином) у 80,0% пациентов (значимые различия с 1-й и 3-й группами

The number of COVID-19 patients is increasing worldwide and the number of patients with neurological manifestations of a new coronavirus infection is increasing as well. Pathognomonic for COVID-19 is the presence of cephalgic syndrome, infectious-toxic encephalopathy, hypo- and anosmia and ageusia. Inducing of pathological autoimmune response contributes to the development of Miller Fischer and Guillain-Barré syndrome. Hyperergic reaction with the generation of the so-called «cytokine storm» provokes multisystem hemorrhagic complications such as Kawasaki disease and acute necrotizing hemorrhagic encephalopathy. There is also a special form of COVID-19-associated stroke. Almost all post-COVID-19 patients complain of severe fatigue, emotional lability, and sometimes have features of asthenic-neurotic, anxiety-phobic disorders and apato-abulic syndromes, which require rehabilitation measures, as well as courses of restorative neurotrophic and nootropic therapy.Во всем мире нарастает число пациентов с COVID-19, среди которых больные с неврологическими проявлениями новой коронавирусной инфекции. Увеличивается и количество верифицированных педиатрических случаев с неврологическими осложениями. Патогномоничным для COVID-19 является наличие цефалгического синдрома, инфекционно-токсической энцефалопатии, гипо- и аносмии и агевзии. Индуцирование патологического аутоиммунного ответа способствует развитию синдромов Миллера Фишера и Гийена—Барре. Гиперергическая реакция организма с развитием так называемого цитокинового шторма провоцирует мультисистемные геморрагические осложнения по типу болезни Кавасаки и острой некротизирующей геморрагической энцефалопатии. Выделяют также особую форму COVID-19-связанную с инсультом. Практически все пациенты, перенесшие COVID-19, жалуются на выраженную астенизацию, эмоциональную лабильность, а также порой имеют черты астеноневротического, тревожно-фобического расстройств и апатико-абулического синдрома, что требует реабилитационных мероприятий, а также курсов восстановительной нейротрофической и ноотропной терапии.

To evaluate the level of adaptive functioning in patients with attention deficit hyperactivity disorder (ADHD).One hundred children and adolescents with ADHD (79 male and 21 female) were examined using M. Weiss functional impairment rating scale (WFIRS). The total score on the ADHD-DSM-IV was at least 24 and ADHD severity was rated as «Moderately ill» or «Markedly ill» on CGI-S-ADHD scale.Typical for ADHD difficulties with adaptive functioning in «Family», «Learning and school», «Life skills», «Social activities» domains are more pronounced in «Markedly ill» patients compared to «Moderately ill» and increase during the transition from childhood to adolescence. Comorbid disorders (oppositional defiant disorder and anxiety disorders) lead to a significant increase in adaptive functioning impairments in most domains of daily life, including «Family», «Learning and school», «Child's self concept», «Social activities» and «Risky activities».It is necessary not only to assess core symptoms in the follow-up of patients with ADHD, but also evaluate comorbid disorders and the level of functional impairment across the main domains of daily life.Определение уровня адаптивного функционирования у пациентов с синдромом дефицита внимания и гиперактивности (СДВГ).Обследовали 100 детей и подростков с СДВГ, 79 мужского и 21 женского полов, с помощью шкалы оценки функциональных нарушений М. Вейсс (WFIRS). Суммарный балл выраженности симптомов СДВГ по шкале ADHD DSM-IV в этих случаях был не менее 24 при умеренной или выраженной степени тяжести СДВГ по шкале общего клинического впечатления (CGI-ADHD-severity).Характерные для пациентов с СДВГ нарушения адаптивного функционирования в таких областях, как «семья», «учеба и школа», «базовые жизненные навыки», «общение и социальная активность», больше проявлялись при выраженной тяжести СДВГ по сравнению с умеренной и нарастали при переходе от детского к подростковому возрасту. Было установлено, что наличие у пациентов с СДВГ коморбидных расстройств (оппозиционно-вызывающее расстройство поведения и тревожные расстройства) приводит к значительному нарастанию нарушений адаптивного функционирования в большинстве сфер повседневной жизни, в том числе таких как «семья», «учеба и школа», «самооценка ребенка», «общение и социальная активность», «поведение, сопряженное с риском». Авторы подчеркивают необходимость динамического наблюдения за пациентами с СДВГ с оценкой не только основных симптомов СДВГ, но также проявлений коморбидных расстройств и показателей адаптивного функционирования в основных областях повседневной жизни.

Objectives. To assess the efficacy and safety of hopantenic acid (Pantogam) compared with placebo in the treatment of ADHD for four months in children aged 6–12 years during a prospective, multicenter, comparative, double-blind, placebo-controlled, parallel-group trial. Materials and methods. The study included 100 patients constituting the safety population (50 in the Pantogam group and 50 in the placebo group). A total of 89 patients completing the study in compliance with the protocol entered the efficacy evaluation population: 45 in the Pantogam group (group 1) and 44 in the placebo group (group 2). Pantogam was given as tablets containing 250 mg at the pediatric therapeutic dose of 30 mg/kg, divided into two split doses, for four months. Assessment of patients’ statements at follow-up addressed the total points scores on the DSM-IV ADHD, the CGI-S Clinical Global Impression scale, the WFIRS-P functional impairments scale, and the results of a correction test (the Toulouse–Pieron test). Results and conclusions. The efficacy of Pantogam in ADHD in children aged 6–12 years as compared with placebo showed a marked tendency to an increase in the proportion of patients with improvements (decreases in total points scores on the DSM-IV ADHD scale by more than 25%) by the ends of the third and fourth months of treatment: treatment responses were achieved in 66.7% and 68.9%, respectively, compared with 52.3% and 61.4% in the placebo group. Pantogam therapy also produced a decrease in disease severity from the placebo level on the CGI-S scale. At four months of Pantogam treatment, there were decreases in the severity of functional impairments on sections 4 and 6 of the WFIRES-P “Family,” “School and learning,” “Child’s self-concept,” and “Risky activities” scales. Pantogam also improved the maintenance of attention in children with ADHD, as measured using the Toulouse–Pieron test (quality and rate of performance) as compared with placebo. Treatment with Pantogam at a mean daily dose of 30 mg/kg for four months demonstrated a favorable safety profile, no different from that of placebo.

Aim:To determine main etiologies and clinical features of neonatal seizures (NS) in groups of newborns of different gestational age (GA).Materials and Methods. Main etiologies of NS were evaluated in 165 newborns divided into four groups: I – 84 early preterm newborns with GA of 28 weeks or less, II – 52 newborns with 29-32 weeks GA, III – 12 newborns with 33-36 weeks GA, and IV – 17 term infants with GA between 37 and 41 wks.Results. In the above 165 infants, the following causes of NS were found: perinatal hypoxia-ischemia – 72.1% of cases, grade III-IV intracranial hemorrhage – 6.1%, congenital infections in 9.7%, CNS infections (bacterial meningitis and viral meningoencephalitis) – 9.7%, сerebral dysgenesis – 1.2%, and inborn errors of metabolism and neurodegenerative diseases accounted for 1.2%. Intracranial hemorrhage (grade III-IV) was detected in newborns with GA less than 32 wks only. The etiological role of CNS infections was higher in term newborns (23.5%) than in the other groups.Conclusion.In examining newborns with NS, genetic mechanisms should be taken into consideration, especially when no indications of early brain damage are apparent. This approach is important today as targeted therapies of gene-associated epileptic syndromes are becoming feasible. In the present article, the use of levetiracetam in infants with NS and early onset epilepsy is discussed.

ASL (Arterial Spin Labeling) – a novel modality of MR angiography – is based on radio-frequency labeling of aqueous protons in the arterial blood; the method is used to monitor blood supply to organs, including the brain. So far there has been little information on the use of ASL in children with focal epilepsy, especially in the pre-surgery period.Aim:to evaluate the perfusion patterns in seizure-free children with drug resistant focal epilepsy (FE) using the ASL mode of MRI.Materials and methods.We studied the ASL data of 54 (23-boys/31 girls) patients with FE treated in the Dpt. of Neurology at the Russian State Children Hospital from 2015 to 2018. The patients’ age varied from 4 months to 17 years. All images were produced with a 3T GE Discovery 750W system.Results. We found several brain perfusion patterns in children with FE; among other factors, those patterns depended on the clinical status of the patient, i. e. the interictal period or the early post- seizure period. The main pattern of the interictal period was characterized by a focal decrease in perfusion located around a structural focus identified on MRI scans. In the early post-seizure period, there was an increase in the arterial perfusion in the area of a structural epileptogenic lesion.Conclusion.ASL-MRI is an effective diagnostic method providing more information on children with FE during their pre-surgery phase. The ASL modality needs further research to rationalize its wider use as a preferred diagnostic tool or as a combination with the more complex PET and SPECT.

Objective : to investigate and analyze the specific features of mental development in children with opsoclonus-myoclonus syndrome (OMS) in relation to the number of exacerbations. Patients and methods . A total of 19 infants (8 boys and 11 girls) aged 1 year 7 months to 10 years 7 months with OMS were examined. The investigation included an analysis of medical records, a follow-up of the children with evaluation of their behavior, emotional responses, and mental functions, and an interview with their parents. Pathopsychological and neuropsychological examinations were used separately for children under 5 years and for those over 5 years, respectively. Results and discussion . It was established that a larger number of OMS exacerbations increased the severity of mental developmental disorders in children if they had >5 deteriorations; there was a severe developmental retardation. The children with OMS were found to have the features of an emotional state and motor behavior and a stable set of the most vulnerable mental processes and functions in the presence of the disease: the neurodynamic features of mental processes; impairments in the motor component of mental functions, including speech; visual and spatial deficits. Positive trends in mental development (as general cognitive interest, readiness for communication with adults) are suggestive of the potential compensation resources that should be used for the psychocorrection and rehabilitation of children with OMS. Conclusion . Mental retardation is seen in children with OMS, the severity of which increases with the number of disease relapses. There is a need for further studies of children with OMS.

The majority of epilepsy cases have their onset in childhood. Compared to their peers, many more children with epilepsy suffer from severe neurodevelopmental disorders, including intellectual disability and autism spectrum disorders. In the present report, the incidence of intellectual disability and autism spectrum disorders among children with epilepsy is reviewed. Four types of connection between epilepsy and autism are discussed: these two conditions are independent as they have different etiologies and may co-occur just by chance; epilepsy and autism are associated because both originate from the same genetic defect or from an early CNS damage; autism is caused by the epileptic process, which interferes with the developing brain networks involved in communication and social behavior. Studies demonstrating positive effects of levetiracetam on the behavioral and cognitive functions (memory, attention) in epileptic children are cited.

Electrical status epilepticus during slow-wave sleep (ESES) is an EEG pattern of continuous (85-100%) diffuse epileptiform activity in the sleep EEG. The morphology of the epileptiform complexes is identical to benign epileptiform discharges of childhood (BEDC). Epilepsy with ESES (or “Penelope Syndrome”) is a form of age-dependent epileptic encephalopathies with the phenomenon of continuous spike-waves during slow wave sleep. This group of epilepsies also includes Pseudo-Lennox syndrome, Landau-Kleffner syndrome, autistic epileptiform regression and some others. In most cases, the ESES pattern correlates with the severity of cognitive deficit in this population of epileptic children. The aim of this study was to evaluate the efficacy and safety of levetiracetam in children with the ESES pattern in the EEG. Materials and Methods. During the period of 2010-2016, 34 epileptic children with ESES patterns in the EEG (14 boys and 20 girls) treated with levetiracetam (33 in combined and 1 in monotherapy) were studied. Results. Twenty eight of the patients with ESES patterns in the sleep EEG were diagnosed with the ESES form of epilepsy. Among them, 7 idiopathic, 13 symptomatic, and 8 “symptomatic” cases of ESES (the latter resulted from “double pathology” of idiopathic + hypoxic-ischemic factors and these children had cerebral palsy). Among other ESES patients, 3 cases were of Pseudo-Lennox syndrome, 2 cases of Landau-Kleffner syndrome and one girl with autistic epileptiform regression. All 28 children received levetiracetam at therapeutic doses of 20-80 mg/kg/daily. Levetiracetam was highly effective in 67.6% of patients (n=23); of those, 2 children showed full clinical and electroencephalographic remission before reaching puberty, 9 children had clinical remission and 12 children had a significant decrease in seizures and epileptiform discharges. A low efficacy of levetiracetam was seen in 20.6% (n=7) of patients. Disease aggravation (seizures and epileptiform discharges) was found in 11.8% (n=4) of patients. Other negative effects were observed in only 4 (11.8%) children (3 cases of agitation and sleep disturbance and one case of allergic rash). In conclusion, levetiracetam is a highly effective medication (67.6% of cases) in combined antiepileptic therapy in children with ESES. However, the risk of exacerbation was as high as 11.8%. The most effective combinations of levetiracetam were those with valproates and ethosuximide.

Childhood absence epilepsy (CAE) is an idiopathic generalized epilepsy, which could be attributed to genetic forms according to the latest proposals of the Commission on Classification and Terminology of the International League Against Epilepsy (2016). CAE has specific clinical and encephalographic characteristics. Data regarding cognitive impairment in children with CAE is still controversial. There are some attempts to introduce more strict diagnostic criteria to be able to define the disease course and prognosis of this form of epilepsy. These are the criteria proposed by Panayiotopoulos C. P. in 2005. Objective. To asses specific features of CAE taking into account the criteria of Panayiotopoulos C. P. (2005). Materials and methods . We have retrospectively analyzed 186 cases of CAE in children; study participants were divided into groups according to Panayiotopoulos’s criteria (2005). Results. Children from the group allocated in accordance with Panayiotopoulos’s criteria had neither generalized tonic-clonic seizures (GTCS) nor myoclonic seizures; control of absence seizures was achieved in 94.3% of the cases; almost 90% of children in this group received monotherapy with mean treatment duration of 2.8 years. Conclusions. The use of more precise diagnostic criteria for CAE will help to predict clinical course of this form of epilepsy and its outcome.

To assess the formation of positive personality phenomena in patients with mild cognitive impairment and asthenic syndrome during the treatment with recognan (citicoline).Thirty-eight patients (17 men and 21 women), aged 18 to 45 years (mean age 27.8±12.1 years), with asthenic syndrome with mild cognitive impairment (ICD-10 F06.7) were examined. Patients were divided into two groups: 20 people in the main group and 18 people in the comparison group. The main group received recognan (orally, in solution, 100 mg in 1 ml) for 30 days, the daily dosage of the drug was 0.5 g (5 ml solution). The comparison group did not receive any medications. Adapted methods of positive personality psychology were used: the Fordyce Emotions Questionnaire, the Subjective Happiness Scale (SHS), the Adult Hope Scale (AHS), the Satisfaction with Life Scale (SWLS), M. Atkinson's Scale of Emotional Maturity, the projective technique 'Map of experiences'. The follow-up period was 30 days. All subjects were examined three times (at baseline, 15 and 30 days after treatment).After a month of treatment with recognan, there was an improvement of positive personality traits and a significant decrease in negative experiences, indicating the positive impact of the drug on the formation of positive personality manifestations and compensation for emotional disorders in patients with mild cognitive impairment and asthenic syndrome.Цель исследования. Оценка особенностей формирования позитивных личностных феноменов у пациентов с легкими когнитивными нарушениями и астеническим синдромом, а также их динамики в процессе использования препарата Рекогнан (цитиколин). Материал и методы. Обследовали 38 пациентов,17 мужчин и 21 женщину, в возрасте от 18 до 45 лет (средний возраст 27,8±12,1 года), у которых диагностирован астенический синдром с легкими когнитивными расстройствами (рубрика F06.7 по МКБ-10). Больные были разделены на две группы: 20 человек в основной группе и 18 человек в группе сравнения. Основная группа получала лечение препаратом Рекогнан (перорально, в растворе, 100 мг в 1 мл) в течение 30 дней, суточная дозировка препарата составляла 0,5 г (5 мл раствора). В группе сравнения лекарственную терапию не проводили. Для оценки состояния больных и личностных изменений применяли следующие психологические тесты и шкалы: 'Эмоциональный тест Фордайса', 'Шкала субъективного счастья', 'Шкала надежды', 'Шкала эмоциональной зрелости М. Аткинсона', 'Шкала удовлетворенности жизнью', проективная методика 'Карта переживаний'. Период наблюдения составил 30 дней. Все испытуемые были обследованы 3 раза (до начала исследования, на 15-й и 30-й дни). Результаты и заключение. После месячного курса лечения Рекогнаном отмечено улучшение показателей по шкалам, направленным на оценку позитивных изменений личности, а также достоверное уменьшение негативных переживаний, что свидетельствовало о положительном влиянии препарата на формирование у больных с легкими когнитивными нарушениями при астеническом синдроме позитивных личностных проявлений и компенсацию эмоциональных нарушений.

To study the therapeutic efficacy of peptidergic nootropic medication Cortexin during two-month follow-up in children with developmental dysphasia aged 3-4 years.Fifty-four children with developmental dysphasia were randomized into two equal groups. The cortexin group received the drug once daily intramuscularly during 10 days. After this course, children did not receive any pharmacotherapy and were examined two months after the beginning of treatment. The control group did not receive pharmacotherapy and was examined twice in two months interval. All the parents were provided with recommendations for the stimulation of speech development in dysphasic children. Before treatment and two months later, speech development was assessed by special scales and questionnaires for parents.After treatment with Cortexin, a significant improvement was achieved not only on the 'expressive language' scale but also on the 'attention to speech' and 'impressive language' scales. The volume of active vocabulary was increased by 2.3 times, the number of articulated phrases by 3.6 times. The evaluation of parents' questionnaires demonstrated the decrease of cerebrasthenic, psychosomatic problems, motor clumsiness, hyperactivity, attention deficit and problems with emotional control in children. The therapy contributed to the reduction of difficulties in communication and social adaptation. The positive effect of Cortexin was observed after the completion of treatment (the protracted effect).Цель исследования. Оценка терапевтической эффективности пептидергического ноотропного лекарственного препарата Кортексин при дисфазии развития у детей в возрасте 3-4 лет. Материал и методы. Обследовали 54 ребенка с дисфазией, рандомизированных на две группы по 27 пациентов. В 1-й группе проводили лечение Кортексином 1 раз в день внутримышечно в течение 10 дней; после этого лекарственную терапию не назначали, повторное обследование осуществляли через 2 мес от начала лечения. Во 2-й группе (контрольная) медикаментозную терапию не применяли, но детей также наблюдали в течение 2 мес. Родители всех пациентов получили рекомендации по стимуляции речевого развития у детей. Перед началом лечения и через 2 мес оценивали состояние речи у детей по шкалам речевого развития и специальным опросникам для родителей. Результаты и заключение. У детей с дисфазией развития, лечившихся Кортексином, в отличие от детей контрольной группы было достигнуто существенное улучшение показателей экспрессивной речи, а также речевого внимания и импрессивной речи. В 2,3 раза выросло число произносимых слов и в 3,6 раза - фраз. По данным анкетирования родителей, положительные результаты лечения Кортексином проявились также в регрессе церебрастенических симптомов, психосоматических нарушений, двигательной неловкости, гиперактивности, дефицита внимания, трудностей эмоционального контроля. Это способствовало улучшению у детей контактов с окружающими и социальной адаптации. Положительное влияние Кортексина отмечено и после окончания терапии (продолженный эффект).

To study clinical and neurophysiological data of early infantile epileptic encephalopathy type 14 caused by KCNT1 mutations.For the period 2017 to 2019, 3 non-relative girls with clinical characteristics of epilepsy of infancy with migrating focal seizures (EIMFS) and mutations in the KCNT1 gene are identified and studied. DNA sequencing was performed using the Hereditary epilepsy panel (Next Generation Sequencing on platform IlluminaNextSeq 500, USA). Dynamical video-EEG monitoring was done with "Encephalan-Video" RM-19/26 ("Medicom MTD", Russia).De novo KCNT1 mutations are identified and studied in three unrelated Russian girls: M.V., 3 years and 3 month old, T.V., 9 month old and M.A., 5 month old. M.V. has the previously unknown mutation in exon 12 (chr9:138656907CT) with amino acid substitution Arg356Trp. T.V. has the previously described mutation in chromosome 9: 138651532GA with amino acid substitution Gly288Ser (OMIM: 608167.0010). M.U. has the previously unknown mutation in exon 15 (chr9:138660712AG) with amino acid substitution Asp480Gly. M.V. has seizure onset at the age of 4 month with behavioral arrest seizures and tonic versive seizures. T.V. developed seizures at 4,5 month in the manner of behavior arrest and ophthalmo-clonic seizures with hyperemia of face. M.U. has neonatal seizures with bilateral tonic-clonic seizures, cyanosis and further development of status epilepticus of alternating hemiconvulsive seizures. Further all the girls develop polymorphic seizures of multiregional genesis up to migrating status epilepticus with typical electro-clinical pattern of EIMFS. Therefore, KCNT1 is likely to be a major gene causing this rare and severe epileptic syndrome.Цель исследования. Изучение клинико-электроэнцефалографических особенностей ранней младенческой эпилептической энцефалопатии (РМЭЭ) 14-го типа, обусловленной мутациями гена KCNT1. Материал и методы. За период 2017—2019 гг. обследованы 3 неродственные девочки (М.В. — 3 года и 3 мес, Т.В. — 9 мес и M.У. — 5 мес) с клинической картиной эпилепсии младенчества с мигрирующими фокальными приступами (ЭММФП) и идентифицированными мутациями в гене KCNT1. Секвенирование ДНК нового поколения (панель Наследственные эпилепсии) осуществлялось на платформе IlluminaNextSeq 500 (США). Мониторинг видео-ЭЭГ проводился посредством системы Энцефалан-Видео на базе РМ-ЭЭГ-19/26 ЭНЦЕФАЛАН-РМ (НПКФ «Медиком МТД», Россия). Результаты и заключение. У М.В. выявлена ранее не описанная мутация в 12-м экзоне гена KCNT1 (chr9:138656907CT) с аминокислотной заменой Arg356Trp. У Т.В. определена ранее известная мутация в 9 хромосоме 138651532GA с аминокислотной заменой глицина на серин в 288 позиции — Gly288Ser (OMIM: 608167.0010). У М.У. обнаружена ранее не описанная гетерозиготная мутация в 15-м экзоне гена KCNT1 (chr9:138660712AG), приводящая к аминокислотной замене в 480-й позиции белка (Asp480Gly). У М.В. дебют РМЭЭ был отмечен в возрасте 4 мес с гипомоторных диалептических и тонических версивных приступов. Эпилепсия у Т.В. дебютировала в возрасте 4,5 мес с гипомоторных приступов с офтальмоклониями и гиперемией лица. У М.У. отмечались неонатальные судороги с билатеральными тонико-клоническими приступами, цианозом, с последующим развитием эпилептического статуса альтернирующих гемиконвульсий. В дальнейшем у всех девочек развивались полиморфные приступы мультирегионального генеза вплоть до мигрирующего эпилептического статуса с характерной электро-клинической картиной ЭММФП. Таким образом, сделан вывод, что ген KCNT1 является, возможно, основным геном, детерминирующим развитие РМЭЭ.

Mitochondrial diseases (MD) represent a large clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. The article discusses clinical features of the MD, accompanying by epilepsy. Two case reports are presented of MELAS syndrome and Alpers-Huttenlocher syndrome. The genetic background of MD is discussed as well as methods for establishing the diagnosis of MD and peculiarities of antiepileptic therapy

the aim of the study was to analyst the efficiency and safety of topiramate in children and adult epileptic populations depending on the patient’s age and forms of epilepsy. 597 epileptic patients receiving topiramate (302 males, 295 females) aged from 2 up 57 years were followed with video-EEG control during the period of 2002-2012. Topiramate was effective at 66,2% of patients (n=395). Low efficiency was seen at 26,8% (n=160) patients. The aggravation effect has been noted at 7% (n=42) of patients. Drug compliance (for >1 year) was 61,8% (n=369). High efficiency in group 2-3 year (n=134) was 53,8% (n=72), low efficiency in 34,3% (n=46), aggravation – in 11,9% cases (n=16); in group >3-7 years (n=253) high efficiency 59,7% (n=151), low 32% (n=81), aggravation in 8,3% (n=21); in pediatric population >7 years (n=132) high efficiency 81,8% (n=108), low effect in 15,2% (n=20), and 3% aggravation (n=4); in adult population >18 years (n=78) the efficiency was 82,1% (n=64), low effect 16,6% (n=13) and aggravation in 1,3% (n=1). So, topiramate is highly effective medication in the therapy of idiopathic generalized epilepsies without absences and in symptomatic/cryptogenic focal forms of epilepsy. Topiramate could also be useful additional drug in the therapy of epileptic encephalopathies. With the increasing of patients’ age the efficiency of topiramate raised, while the aggravation risks decreased. Peak of aggravation potential was seen in early childhood population and maximal effectiveness – in children up 7 years and adult population.

the article presents the clinical observation of outpatients with a diagnosis of epilepsy in the children’s neurological department Morozovsky Children Hospital translation from the original on generic drug valproic acid. Such changes in anticonvulsant therapy in patients quarter led to a deterioration of the disease in the form of clinical remission failure, impairment at lectroencephalography, as well as the emergence of side effects from the gastrointestinal tract and deterioration of cognitive functions. On the basis of this observation can be confirmed by the fact that patients with epilepsyin remission is not recommended translated from the original drug to a generic.

The frequency of detection of stroke in children has increased over the last 25 years (from 1.3 to 13/100 000). The children identified more than 100 risk factors for stroke, but more than a third of cases the cause is not identified. We have analyzed the incidence of epilepsy in children with stroke and risk factors to evaluate the possibility of occurrence of epileptic seizures. It handled 280 case histories of children who had a stroke in the period from 2013 to August 2015 (excluding children with perinatal stroke and bleeding with severe brain injuries) treated at the Morozov Children'sClinicalHospital. All children held in the dynamics of EEG, psychological testing, repeat MRI. The diagnosis of epilepsy had 24 children (8.6%) of the treated patient records. Ischemic stroke was diagnosed in 62%, hemorrhagic – 38%. In HS, prevailed children aged up to 3 years, with ischemic from 6 to 14 years. The most common attacks made their debut from 12 to 24 months after a stroke, some earlier occurrence of attacks observed in hemorrhagic stroke, from 1 month to 12 months (77%). Only 3/24 (12.5%) children seizures were observed in the acute phase stroke. In 71% was a combination of several types of attacks. Two of the children diagnosed with idiopathic forms epilepsy – childhood absence and juvenile myoclonic. Evaluation of the outcome of stroke scale PSOM-SNE and pathopsychological evaluation by the Achenbach revealed more severe neuropsychological problems in children with stroke with epileptic seizures than those without epilepsy.

Hypoglycemia in congenital hyperinsulinism (WGI) in children increases the risk of brain damage, seizures and development delay. The aim of our study was to evaluate the clinical manifestations in children with CHI. Hypoglycemia is often manifests with seizures, which are sometimes in the future may lead to the development of epilepsy. Seizures in CHI do not always require a diagnosis of epilepsy and prescription of anticonvulsants. EEG changes in these children may be observed in the absence of epileptic seizures. Developmental delay was more common in children with neurological abnormalities and MRI changes. Children with ABCC8 gene mutations have more complicated for CHI and more prominent developmental delay.

This article describes 9 clinical cases of Aicardi–Goutieres syndrome (AGS) in children admitted to the hospital of the Scientific and Practical Center of Medical Care for Children with Resistant Multifocal Epilepsy. Epilepsy, psychomotor retardation, and a loss of previously acquired skills were diagnosed during the investigation. Targeted exome sequencing in one child revealed a mutation in the RNASEH2B gene responsible for the development of this disease. AGS is an early-onset progressive encephalopathy with basal ganglia calcification, leukodystrophy, lymphocytosis, elevated interferon-alfa levels in the cerebrospinal fluid, and no evidence of viral infection. Noninfectious leukoencephalopathy concurrent with multifocal epilepsy in early childhood suggest that the syndrome is an inherited disease.

The favorable pharmacokinetic profile of an antiepilepttc drug with linear kinetics, stable blood concentration, and no clinical interaction with other agents is important in treating epilepsy in children and adolescents in the outpatient setting. Levetinol (levetiracetam) meets these requirements. Objective: to assess the use of Levetinol in outpatient neuropediatric practice. Sixty-one patients aged 2 to 17 years with different types of epilepsy were examined. Forty-seven children were observed to have concomitant (neurological, somatic, and endocrine) diseases, which required a particularly careful approach to choosing an antiepileptic drug. Levetinol was given in a therapeutic dose of 30 to 70 mg/kg/day. TVventy-three (37,7%) children were on monotherapy; 33 (54%) had duo therapy; 5 (8,1%) received 3 drugs. A positive clinical effect was achieved in 53 children - in most at 3 months of therapy: 25, 50, and 75% reductions in seizures in 2,11, and 3 patients, respectively; no seizures within 3-5 months in 38 (62,2%) patients. Levetinol (levetiracetam) demonstrated a high therapeutic efficacy and good tolerability in patients, including children with comorbidities, owing to which it has an advantage over other medicaments used in outpatient neuropediatric practice.

Fifty-six out of 79 pediatric patients with supratentorial brain tumors were noted to have symptomatic epilepsy. Dysembryoplastic neuroepithelial tumors (DNET), diffuse astrocytomas (DA), and gangliogliomas (GG) were the most epileptogenic tumors. Seizures were new-onset in all our noted cases of DNET and in 4 patients with GG and the only clinical tumor sign in 6 of 8 cases of DNET. The neuroimaging features of the MRI pattern of DNET, DA, and GG were an iso/hypointense signal on Tl-weighted magnetic resonance images and a signal, the intensity of which varied from heterogeneous to cerebrospinal fluid, on T2-weighted FLAIR images. Cases of DNET and GG displayed no mass effect or perifocal edema, a trend towards location in the temporoinsular regions, and a frequent concurrence with local gray-white matter differentiation disorders and atrophy. The FLAIR images clearly showed the so-called foam-like (multicystic) structure with pericystic changes. No significant change in the dimensions of the identified DNET and GG was observed during the follow up period. In low-grade DA, tumor growth was reduced and it is difficult to differentiate minimal perifocal edema from tumor-like tissue. The sensitivity of these tumors to contrast enhancement is ambiguous. Along with DNET (that was epileptogenic in 100% of cases), DA (91,7%) and GG (80%) were the most common epileptogenic brain tumors.

The population frequency of neuropsychic developmental delays in infants is estimated at nearly 10%; that of global intellectual disability (mental retardation) is at 1-3%. Delayed development is denned as a substantial retardation as compared to the standard indicators in any of the basic spheres: motor, communicative, cognitive, adaptive-behavioral, and socioemotional ones. Global developmental delay is characterized by a significant lag in two or more spheres. The use of current diagnostic techniques, such as the Bayley or Griffiths scales, can provide an objective quantitative assessment of both an infant's overall development and indicators in individual spheres. At the preliminary examination stage, it is expedient to carry out a Denver developmental screening test that may be directly used in a doctor's consulting room. The causes of global developmental delay/intellectual disability in infants may be perinatal central nervous system (CNS) lesions; brain malformations; intrauterine infections; intrauterine intoxications; early-onset psychoneurological diseases (neuroinfections, CNS injuries, epilepsies, autism spectrum disorders, etc.); congenital hypothyroidism; genetic diseases. Among all genetic causes of global developmental delay/intellectual disability, there are chromosomal anomalies (25-30%), monogenic diseases (metabolic diseases, neuroectodermal syndromes, diseases with predominant grey and white matter involvement). The diagnostic possibilities of current genetic methods are considered.

During a clinical examination of children with autistic spectrum disorders, attention should be drawn to both their major clinical manifestations and neurological comorbidities. The paper considers the mechanisms of autism-induced neurological disorders, the spectrum of which may include manifestations, such as retarded and disharmonic early psychomotor development; the specific features of sensory perception/processing; rigidity and monotony of motor and psychic reactions; motor disinhibition and hyperexcitability; motor stereotypies; uncoordinated movements; developmental coordination disorders (dyspraxia); impaired expressive motor skills; speech and articulation disorders; tics; epilepsy. It describes the specific features of neurological symptoms in Asperger’s syndrome, particularly in semantic-pragmatic language disorders, higher incidence rates of hyperlexia, motor and vocal tics. The incidence rate of epilepsy in autistic spectrum disorders is emphasized to be greater than the average population one. At the same time, the risk of epilepsy is higher in mentally retarded patients with autism. Identification of neurological disorders is of great importance in determining the tactics of complex care for patients with autistic spectrum disorders.

The article reviews studies dealing with the use of the polypeptide nootropic and neurometabolic stimulant cortexin in the multimodal rehabilitation of patients with central nervous system diseases. The high efficiency of using cortexin is shown to be due to a combination of nootropic, neurotrophic, neuroprotective, reparative, and anticonvulsive effects, as well as antioxidant, metabolic, and antistress activities, which determines its high therapeutic efficacy in multimodal correction.

Neurodevelopmental disorders (NDD) are characterized by disturbances of the formation of cognitive functions, communication skills, behavior characteristics and/or motor skills, which are caused by abnormalities in the course of the processes of neuroontogenesis. In the clinical practice of a pediatric neurologist and pediatrician, a significant part consists of patients with NDD without a general decrease in intelligence, primarily with speech development disorders, attention deficit hyperactivity disorder (ADHD), specific learning disorders (dyslexia, dysgraphia, dyscalculia). NDD represent a heterogeneous group of diseases, having multifactorial origin and a neurobiological nature, which are caused by genetic mechanisms and early (perinatal) brain damage. Among children with NDD, there is a higher occurrence of anxiety disorders compared to their peers. With NDD, early intervention is indicated, and its positive effect is possible during the period when the brain is most plastic and capable of changes. The published results of multicenter, double-blind, placebo-controlled, randomized clinical trials of pharmacotherapy with the medication "Tenoten for children" for ADHD, specific learning disorders, anxiety disorders and the consequences of perinatal damage to the central nervous system are reviewed.Расстройства нервно-психического развития (РНПР) — это нарушения формирования когнитивных функций, навыков общения, характеристик поведения и/или двигательных навыков, которые обусловлены отклонениями протекания процессов нейроонтогенеза. В клинической практике детского невролога и педиатра существенную часть составляют пациенты с РНПР без общего снижения интеллекта, прежде всего с нарушениями развития речи, синдромом дефицита внимания с гиперактивностью (СДВГ), специфическими трудностями обучения (дислексией, дисграфией, дискалькулией). РНПР представляют собой гетерогенную группу заболеваний, имеют мультифакториальный характер и нейробиологическую природу, обусловлены генетическими механизмами и ранними (перинатальными) повреждениями мозга. Среди детей с РНПР отмечается более высокая по сравнению с ровесниками частота встречаемости тревожных расстройств. При РНПР показано раннее вмешательство, и его положительный эффект возможен в тот период, когда мозг наиболее пластичен и способен к изменениям. Рассматриваются опубликованные результаты многоцентровых двойных слепых плацебо-контролируемых рандомизированных клинических исследований фармакотерапии препаратом Тенотен детский при СДВГ, специфических трудностях обучения, тревожных расстройствах, последствиях перинатального поражения центральной нервной системы.

The aim of the study was to study the effect of the drug recognan (citicoline) on the neurodynamic characteristics of mental activity in patients with mild cognitive impairment.A survey of 58 subjects (17 of them male and 41 female) aged 18-45 years (average age 27.2±12.5 years) was conducted. Clinical diagnosis according to ICD-10 «Mild cognitive impairment» (F06.7). The main subgroup included29 people received oral recognan therapy (in solution, 100 mg in 1 ml) for 30 days, with a daily dosage of 500 mg (5 ml of solution). In the control group (29 people) drug therapy was not performed. Tests were used: «Graphic sample», the sample on the reciprocal coordination of the hands (Ozeretsky test), test for the compression of fingers, the test «number series». The follow-up period was 30 days. All subjects were examined three times (initially, in the middle of the study - on day 15, at the end of the study - on day 30).The results obtained showed that the use of the drug recognan (citicoline) has a positive effect on the indicators of visual-motor coordination and spatial representations, neurodynamic characteristics of movement, and cognitive functions. After a 2-week treatment with recognan improved graphical sample, 84% of patients, with reliable improvement according to the Wilcoxon (Изучение влияния препарата Рекогнан (цитиколин) на нейродинамические характеристики психической деятельности у пациентов с легкими когнитивными нарушениями.Проведено обследование 58 пациентов (17 мужчин и 41 женщина) в возрасте 18—45 лет (средний возраст 27,2±12,5 года) с клиническим диагнозом по МКБ-10 «Легкое когнитивное расстройство» (F06.7). В основную группу вошли 29 пациентов, которые получали пероральную терапию Рекогнаном (в растворе, 100 мг в 1 мл) в течение 30 дней, при этом суточная дозировка препарата составляла 500 мг (5 мл раствора). В группе сравнения (29 человек) медикаментозная терапия не проводилась. Использовались тесты «Графическая проба», проба на реципрокную координацию рук (проба Озерецкого), проба на сжимание пальцев, тест «Числовые ряды». Все пациенты обследовались трижды (до начала терапии, на 15-й день терапии, после лечения — на 30-й день).Полученные результаты показали, что применение препарата Рекогнан (цитиколин) оказывает положительное влияние на показатели зрительно-моторной координации и пространственных представлений, нейродинамические характеристики движения, когнитивные функции. После 2 нед лечения Рекогнаном отмечалось улучшение выполнения графической пробы у 84% обследованных, с достоверным улучшением (

OBJECTIVE The aim of the observational program was to study the effect of the use of the drug recognan (citicoline) on the state of higher mental functions (memory, attention, visual-motor coordination, dynamic praxis,verbal thinking and imagination) in patients with mild cognitive impairment. MATERIAL AND METHODS A survey of 54 subjects (16 of them male and 38 female) aged 18-50 years (average age 28.5±10.5 years) was conducted with a diagnosis of «Mild cognitive impairment» («F06.7»). The group was randomized into 2 subgroups: the main subgroup (26 people) received oral therapy with the drug Recognan, for 30 days, with the daily dosage of the drug being 500 mg. In the control group (28 people), nootropic drug therapy was not performed. Standard psychometric techniques were used to study higher mental functions. All subjects were examined three times (initially, in the middle of the study - on day 15, at the end of the study - on day 30). RESULTS AND CONCLUSION After 2 weeks of treatment with recognan, there was an improvement in concentration in 81.9%, memory in 50% (p=0.008), verbal imagination productivity in 68.2% (p=0.015), counting functions in 60% (p=0.015), visual-motor coordination and dynamic praxis - in 86.4% (p=0.003), increased speed and efficiency of mental work (p=0.001). After a 30-day course of treatment with recognan, there was an improvement in memory in 58.3% of patients (p=0.007), an increase in concentration in 64%, an improvement in counting functions in 64.3% (p=0.011), verbal imagination productivity in 63.3%, visual-motor coordination and dynamic praxis in 86.4% (p=0.007), speed and efficiency of mental work (p=0.006), which indicates a complex positive effect of recognan on higher mental functions in patients with mild cognitive impairment cognitive impairment.

On June 25-26, 2021, a round table was held in Kazan with the participation of leading neurologists of Russia, where the issues of treatment of patients with cognitive impairment due to cerebrovascular diseases were discussed. Cognitive disorders of vascular genesis (VCD) are widespread in the population, are a common cause of a decrease in the quality of life and restriction of daily activity. The cause of VCD is both acute and chronic cerebrovascular diseases. An effective way to prevent VCD is to control cardiovascular risk factors, ensure a sufficient level of cognitive and physical activity throughout life. The role of drug therapy, aimed, among other things, at normalizing metabolic processes in the brain, is extremely important. The data on the mechanisms of action of the new domestic drug prospecta, the results of its clinical trials in patients with VCD are presented.25—26 июня 2021 г. в Казани состоялся круглый стол с участием ведущих неврологов России, на котором обсуждались вопросы лечения пациентов с когнитивными нарушениями вследствие цереброваскулярных заболеваний. Когнитивные нарушения сосудистого генеза (СКН) широко распространены в популяции, являются частой причиной снижения качества жизни и ограничения повседневной активности. Причиной СКН являются как острые, так и хронические цереброваскулярные заболевания. Эффективный способ предупреждения СКН — контроль факторов сердечно-сосудистого риска, обеспечение достаточного уровня когнитивных и физических нагрузок на протяжении жизни. Исключительно важна роль медикаментозной терапии, направленной в том числе на нормализацию обменных процессов в головном мозге. Приведены данные о механизмах действия нового отечественного препарата Проспекта, результатах его клинических испытаний у пациентов с СКН.