Preview

L.O. Badalyan Neurological Journal

Advanced search
Vol 2, No 3 (2021)
https://doi.org/10.46563/2686-8997-2021-2-3

FROM THE EDITORS

ORIGINAL INVESTIGATIONS

119-136 1815
Abstract

Introduction. The development of a child in the first year of life provides the basis for their further harmonious growth. Motor development occurs in parallel with the ongoing gradual development of the nervous system. The transition to a new motor milestone is associated with the emergence of new skills; therefore, stimulation of motor development should occur in accordance with the next milestone of the nervous system development. Intervention in the natural process of the skills gaining without considering the developmental nervous system milestone leads to a change in the trajectory of motor progress of the child. Aim of the study was to assess the significance of individual elements of motor development for the function of balance and walking, as well as to identify the role of non-physiologic (contradicting motor ontogenesis) stimulation of motor skills in the evolvement of non-optimal motor patterns and impaired balance and walking function.

Materials and methods. In total, 43 children aged ≥ 12 months admitted to the «Consultative Diagnostic Department» of the Federal State Autonomous Institution «National Medical Research Center for Children’s Health» of the Ministry of Health of Russia were examined within the framework of dispensary observation in the period from December 2016 to June 2019. The assessment of motor development was carried out according to the tests and questionnaires developed. The children were divided into two groups: the treatment group, in which the intervention was carried out, and the control group.

Results. The frequency of realization of physiological patterns in children in the treatment group was 65.5%, and in the control group was 89.6%. The occurrence of the functional disorders of the musculoskeletal system was as follows: pathological functional kyphosis in the lumbar spine in children in the treatment group occurred in 73.1%, and in the control group in 26.9%; sitting on the sacrum occurred in 73.1% in the treatment group, and 26.9 % in the control group; impaired coordination in the treatment group occurred in 53.9%, and in 46.1% in the control group; decreased balance function in the treatment group occurred in 61.5%, and in 38.5% in the control group.

Conclusion. Correct interaction with a child in the first year of life, in combination with physiological stimulation corresponding to the developmental milestones of the nervous system, allows the child to implement their motor skills in a timely manner, without disrupting the natural sequence of motor development, and minimizes the risks of functional disorders of the musculoskeletal system.

LITERATURE REVIEWS

137-145 4448
Abstract

Autoimmune diseases of the central nervous system (CNS) are one of the most socially and economically significant problems of neurology. Despite the identification of new nosological forms of autoimmune encephalitis, the creation of diagnostic panels for the verification of autoantibodies in biological fluids, and the use of highly effective pathogenetic therapy, the number of diagnostic errors remains high, which poses a threat to the patient’s life and a high risk of developing severe complications. Anti-N-methyl-D-aspartate receptor encephalitis (anti-NMDAR encephalitis) is autoimmune encephalitis caused by the presence of antibodies (Ab) to the NR1 subunit of NMDA-receptors (NMDAR) characterized by the development of severe mental and neurological deficits in a previously healthy person. This article summarizes the recent literature on anti-NMDAR encephalitis. The literature search was carried out using the Scopus, Web of Science, Pubmed, CyberLeninka databases. The review presents the facts of the history of the study of the disease, epidemiological data, modern ideas about the pathogenetic mechanisms of the development of the disease, the spectrum of clinical manifestations and various forms of the course of the disease. The diagnostic criteria and research methods used to confirm the diagnosis are described, approaches to the treatment of anti-NMDAR encephalitis are outlined.

Anti-NMDAR encephalitis is clinically manifested by a combination of mental disorders, epileptic seizures, speech and extrapyramidal disorders, and disturbances in the rhythm of sleep and wakefulness. The disease occurs at any age. The development of the disease can be associated with such immunological triggers as oncological process and herpetic encephalitis, or be idiopathic in nature. There are features of the course of the clinical picture depending on the age of the patient, paraneoplastic or postherpetic aetiology of the disease. The diagnostic algorithm, along with neuroimaging, determination of specific antibodies, electroencephalography, should also include the search for an oncological process. The recovery of patients can take from several months to years. In some cases, persistent neurological deficits develop. Predictors of a favourable outcome include early initiation and use of combination therapy, detection and removal of neoplasms, a low titer of anti-NMDAR antibodies, and age of patients over 12 years of age. In up to 25% of cases, a relapsing course of the disease is possible, and therefore requires long-term monitoring of these patients.

146-158 1533
Abstract

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.

LECTURES

159-166 2072
Abstract

Duchenne muscular dystrophy (DMD) is a disease with an X-linked recessive type of inheritance, belonging to a group of disorders with primary muscle damage, caused by pathogenic variants in the DMD gene and associated with dysfunction of the dystrophin protein. Since DMD is manifested by the gradual development of progressive, mainly proximal muscle weakness, the differential diagnosis is primarily carried out in the group of diseases with muscle damage - myopathies. Among these diseases, the leading candidates for differential diagnosis are hereditary myopathies (limb-girdle muscular dystrophies, facioscapulohumeral dystrophy, congenital muscular dystrophies, glycogenoses - the most common juvenile form of glycogenosis type II (Pompe disease)) and, much less often, congenital myopathies and other conditions of neuromuscular diseases). When conducting a differential diagnosis in a child with suspected DMD, the age of the onset of the disease, early initial clinical manifestations and the development of symptoms as they grow, genealogical analysis, laboratory tests (the level of creatine kinase, aspartate aminotransferase, alanine aminotransferase in blood serum), instrumental (electromyography, magnetic resonance imaging of the brain and muscles) and molecular genetics (polymerase chain reaction, multiplex ligation-dependent probe amplification, next-generation sequencing, Sanger sequencing, etc.) of studies, and in some cases, muscle biopsy data. Knowledge of the nuances of the differential diagnosis allows establishing a genetic diagnosis of DMD as early as possible, which is extremely important for the formation of the prognosis of the disease and the implementation of all available treatment methods, including pathogenetic therapy, and is also necessary for medical and genetic counselling of families with DMD patients.



ISSN 2686-8997 (Print)
ISSN 2712-794X (Online)