Introduction. Speech disorders (SD) are one of the urgent problems of childhood neurology. Despite the long history of studying speech disorders in children, the use of modern instrumental research in the diagnosis, the use of various therapeutic techniques for their correction, scientific interest in understanding the pathogenetic foundations of these disorders remains relatively high. In recent years, much attention has been paid to studying the genetic causes of the development of this pathology. Currently, data are presented on more than 20 candidate genes that may determine isolated speech disorders or their combination with other cognitive disorders. The study of the molecular and genetic foundations of speech disorders in children will expand clinicians’ understanding of the pathogenesis of speech disorders and optimize diagnostic approaches. The aim of the study is to investigate the structure of SD and diseases and to define clinically significant nucleotide variants leading to various diseases, the phenotype of which includes SD.

Materials and methods. One hundred sixty 2 to 7-year children with speech disorders aged were under observation, 93 (58.1%) girls and 67 (41.9%) boys were hospitalized into the Department of Neuropsychiatry and psychosomatic pathology and the Department of Pathology of early Childhood of the of National Medical Research Center for Children’s Health of the Ministry of Health of Russian Federation. All observed patients underwent sequencing of the clinical exome by mass parallel sequencing.

Results. Sequencing the clinical exome in SD children makes it possible to detect clinically significant nucleotide variants leading to various diseases, including speech disorders. The most common speech disorders in children are clinical manifestations of hereditary diseases. In 5 (3.1%) of the observed patients, nucleotide variants were found during a molecular genetic study that can cause diseases in which speech and intellectual-mnestic disorders are among the main clinical manifestations.

Conclusion. There were studied molecular genetic features of speech disorders in 160 children. The continuation of clinical studies aimed at searching for pathogenic genome variants leading to speech and intellectual-mnestic disorders in a representative sample of patients with speech disorders will resolve the issue of the feasibility of including sequencing of the clinical exome in the diagnostic algorithm of speech disorders in children.

Frontotemporal dementia (FTD) is the second most common cause of neurodegenerative dementia affecting patients before 65. The classic clinical phenotypes of the disease include the behavioral variant of FTD and variants with a predominant speech disorder - primary progressive aphasia (agrammatic, semantic and logopenic variants). Often, classic FTD phenotypes can be associated with atypical parkinsonism such as corticobasal syndrome and progressive supranuclear palsy, and motor neuron disease. The disease is also heterogeneous from a pathophysiological point of view. It may be based on one of three pathological processes, while up to 40% of cases have a hereditary burden. Currently there have been described mutations in about 20 genes associated with FTD. Given the wide variety of clinical presentation, FTD may be a phenocopy of other diseases, which makes it difficult to diagnose, complicates the differential diagnosis and delays the correct diagnosis for several years. Poor awareness of the disease and its clinical features among clinicians is one of the reasons for the lack of data on the prevalence of the disease in the Russian Federation. In addition, the identification of families with genetic forms of the disease and asymptomatic carriers is an important step in the formation of a strategy for helping this category of patients when approaches to pathogenetic therapy appear. This review of the literature presents modern ideas about the clinical picture, features of diagnosis and differential diagnosis of various clinical variants of FTD. The current understanding of approaches to pharmacological and non-pharmacological therapy is also presented.

Facial neuropathy (Bell’s palsy) is a disease characterized by damage to the nerve fibers of the VII cranial nerve with the occurrence of unilateral facial muscle weakness or paralysis. Damage to the facial nerve is the most common type of cranial neuropathy. Delayed treatment onset and/or inadequate therapy of the disease leads to the residual neurological deficit, which may significantly reduce the patient’s quality of life. The best result in the rehabilitation of children with facial nerve neuropathy is provided with an integrated approach using myofascial manual therapy techniques and exercises. This is achieved during the therapy sessions with a myofascial manual techniques complex. After preparing the muscles, fascia and skin, the therapist conducts a set of passive and active exercises with a patient to restore the work of his/her facial muscles. The method was created, tested, and implemented in the Federal State Autonomous Institution “National Medical Research Center of Children’s Health” of the Ministry of Health of the Russian Federation. The essence of the method consists of the process of therapy sessions, providing a gradual recovery of functional relationships between the myofascial structures of the face, and improvement of lymphatic drainage, arterial blood supply, and venous outflow restoration. The alternation of myofascial manual techniques with exercises contributes to the maximum effective restoration of the symmetrical work of the facial muscles. Evaluation of the effectiveness of myofascial manual techniques and corrective exercises was carried out by clinical presentation changes and follow-up data. Comprehensive rehabilitation using myofascial manual techniques and exercises makes it possible to achieve improvement in restoring the function of facial muscles, eliminating asymmetry, and preventing complications. Conclusion. The obtained results demonstrated the effectiveness of myofascial manual techniques and exercises in the rehabilitation of children with facial neuropathy. Based on the results of the study, a positive effect of this method was shown to improve the functions of mimic muscles and facial symmetry in children with Bell’s palsy.

In both children and adult patients, migraine and tension type headache (TTH) are the most common primary headaches, they affect about 15% and 21% of the world’s population, respectively. The role of genetic, psychosocial, hormonal factors is traditionally considered in the genesis of primary headaches. Obviously, neurobiological factors including early brain damage, genetic predisposition are involved in the formation of the pathophysiological basis of primary headaches, which interact with a complex of other factors, including external (psychosocial) factors, leading to changes in the pain mechanisms both at the peripheral and central levels.

The literature review presents up-to-date data on the influence of pre- and perinatal factors on the risk of developing primary headaches. Intrauterine growth retardation, smoking and alcohol consumption by mothers during pregnancy are analyzed as risk factors for the development of migraine in children. The connection between the manifestations of increased neuroexcitability in children in the first 6 months with the development of primary headaches in subsequent periods of life is considered.

The data of comparison of the results of the assessment of early anamnesis in clinical groups of patients with frequent episodic and chronic TTH are presented.

The review examines the possible mechanisms of functional disorders of the nervous system that lead to the occurrence of primary headaches in the future.

It is necessary to continue research on the role of perinatal factors in the genesis of primary headaches, to clarify the prognosis regarding the possible chronization of pain syndromes and develop differentiated approaches to the treatment tactics for these patients.

Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disease of prion nature, characterized by a rapid progression of neurological symptoms leads a state of akinetic mutism in the terminal stage of the process. CJD disease was used in scientific literature since 1922, but even today, a century later, its pathogenesis remains an unresolved puzzle. Although research prion abnormalities have advanced considerably, the criteria for making a definitive diagnosis are now based on morphological or immunohistochemical confirmation. A combination of indirect diagnostic signs forms the lifetime diagnosis. CJD progresses steadily once the first neurological symptoms are present, with death usually occurring within a year of onset. CJD can occur at any age, but its onset is more common in the seventh decade. This paper presents three clinical cases that debuted at the age of 59, 70 and 69 years. In the first and second cases, the disease began with a mnemonic disturbance, in the third with a speech impairment, and the cognitive impairment was one of the last to occur. Two of the three clinical cases had a lethal outcome with a disease course of up to one year, but none was included in the statistics on the incidence of CJD in Russia, due to a lack of awareness among specialists, as well as a lack of necessary resources and means. In conclusion, a brief overview of diagnostic and treatment approaches based on current scientific research is presented.