L.O. Badalyan Neurological Journal

L.O. Badalyan Neurological Journal was founded in 2020. The founder of the Journal is the National Medical Research Center for Children's Health.  Editor-in-Chief is Lale A. Pak, Ph.D., DSci. Frequency is  1 issue per 3 months (quarterly).

L.O. Badalyan Neurological Journal highlights current issues in pediatric and adult neurology as well as in related areas including neurosurgery, neurogenetics, neuro orthopedics, psychiatry, psychology, radiology, etc.

Along with original articles, lectures, and literature reviews, materials of clinical cases interesting both from a practical and scientific point of view, the journal includes a consistent presentation of all the important stages of the diagnosis and treatment, supported by clear illustrations.

 The journal covers new methods of testing and instrumental diagnosis of neurological disorders, as well as modern aspects of therapeutic methods.

The target audience of the journal includes neurologists, neurosurgeons, orthopedists, rehabilitologists, genetics, psychiatrists, psychologists, pediatricians, therapists, radiologists and experts in other related specialties.

The journal is registered by the Federal Service for Supervision of Communications, Information Technology and Mass Media, registration number and date of the decision on registration is PI series No. FS77-77576 dated December 31, 2019.


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Current Issue

Vol 1, No 4 (2020)


Nonspecific neck and back pain in children
Devlikamova F.I., Khaibullina D.K., Maximov Y.N., Gubeev B.E.

The aim of the study. To investigate non-specific neck and back pain in pediatric patients.

Materials and methods. 252 patients including 57.9% boys and 42.1% girls, aged from 7 to 18 years were observed. All patients underwent clinical neurological examination, neuro-orthopedic examination, and paraclinical studies according to indications.

Results. At the time of examination, all patients presented active complaints about the presence of back pain or neck back pain. 19.4% of patients complained of pain at several levels simultaneously. More than half of the observed children experienced discomfort in the indicated regions — fatigue or discomfort. The intensity of pain according to a visual analog scale averaged 3.6 ± 1.1 points. Most of the patients, as well as their parents, considered a likely cause of back pain to be a prolonged stay in a relatively immobile state in a sitting position. Assessment of neurological status revealed micro symptoms of the central nervous system, signs of a diffuse decrease in muscle tone, and various autonomic dysfunction. Neuro orthopedic examination revealed a violation of the spine configuration in all examined children. The vertebral syndrome was due to the presence of instability of the cervical and lumbar vertebral motor segments, complicated by functional blocks. Extravertebral manifestations were represented by muscle-tonic and myofascial pain syndromes.

Conclusions. The results of the study suggest functional pathology to be one of the main causes of the back and neck pain in school-age patients, where the leading role belongs to static overloads.

L.O. Badalyan Neurological Journal. 2020;1(4):203-207
pages 203-207 views
Neoplastic potential for malformations of the development of ecto- and mesodermal structures
Tsotsonava Z.M., Belopasov V.V., Tkacheva N.V.

Introduction. Malformations of ecto- and mesodermal structures represent various forms of abnormality of intrauterine systemic and local morphogenesis, arising at different times of embryonic development due to environmental factors, genomic, chromosomal or gene mutations. Dysregulation of cellular functions due to mutations and accumulation of defective proteins initiates tumor transformation of tissues e.g. hereditary diseases of ectomesodermal origin — phakomatosis (hamartomatosis).

The aim of the study was to determine organ specificity, clinical manifestations, morphological features and the degree of progression of tumors of the nervous system and internal organs in hereditary diseases of ectomesodermal origin.

Materials and methods. 103 patients with hereditary phakomatosis were examined. All of them underwent a comprehensive clinical imaging examination, including magnetic resonance imaging, echocardioscopy, ultrasound examination of the abdominal organs, kidneys, retroperitoneal space, and computed tomography of the abdominal cavity and lungs.

Results. The reason for the treatment of patients was the occurrence of focal neurological symptoms, focal and/or generalized epileptic seizures. Clinical manifestations were determined by the form of the disease. The risk of the development and progression of various neoplasms is the highest in neurofibromatosis type I–II, tuberous sclerosis, neurocutaneous melanosis, multiple endocrine neoplasia, angiomatosis of Hippel–Lindau, Louis-Bar . Favorable benign and stable course, low malignant potential are distinguishing characteristics of pigment-vascular phakomatoses type I–V.

Conclusion. Knowledge of the clinical manifestations of various malformations of the skin, blood vessels, and the nervous system associated with tumor growth in cells and tissues is practically significant. Early diagnosis and the use of modern technologies of conservative and surgical treatment allow achieving a predictable result, prevent the development of severe complications, and significantly improve the quality of life of patients with this pathology.

L.O. Badalyan Neurological Journal. 2020;1(4):208-216
pages 208-216 views
The use of shoe type «squeakers» in children with idiopathic transient toe walking
Kenis V.M., Khusainov N.O.

Introduction. Transient toe walking is a common benign condition in young children. Nevertheless, it leads to parents’ concern and becomes a frequent reason for visits to orthopaedists.

Aim: a preliminary assessment of the effectiveness of «squeakers» shoes for optimizing of gait in children with transient idiopathic toe walking.

Material and methods. A prospective study of 24 children (mean age: 21.4 months) which are under surveillance in outpatient clinics for toe walking as the main complaint. Children supplied free of charge with «squeakers» shoes. Parents filled questionnaires 1 month after the usage of these shoes.

Results. Positive changes in gait (normalization or improvements) were reported in the majority (22 from 24) children. More than half of parents noticed normal gait in regular shoes and one third — barefoot. No deterioration has been observed.

Discussion. We conducted a preliminary study assessing the effectiveness of modified shoes («squeakers») in children with transient idiopathic toe walking. Most of the parents reported improvements in walking. As a potential mechanism, we suggest positive biofeedback with the recruiting of the sensory (audial) pathway.

Conclusion. Based on our study we can recommend «squeakers» for children with transient idiopathic toe walking demonstrating delayed spontaneous improvement.

L.O. Badalyan Neurological Journal. 2020;1(4):217-223
pages 217-223 views


Music therapy: auxiliary method of habilitation in infants with perinatal pathology during the first months of life
Bombardirova E.P., Basargina M.A., Kharitonova N.A., Mitish M.D.

A review of the literature presents the history of the use of music therapy in the treatment of a variety of diseases, both in adult clinical practice and in neonatology and pediatrics; there are described various musical and therapeutic programs considered as a part of complex, specially developed, methods of non-drug rehabilitation, with the presentation of indications and contraindications for this type of therapy in newborns and infants; possible neurophysiological justifications for the use of melodic and rhythmic support of infants with perinatal pathology are presented, as well as the prospects of using music therapy in the practice of nursing newborns, including premature babies, suffering from combined perinatal pathology, in the structure of restorative treatment (habilitation) of children, as an auxiliary method that mildly potentiates the effects of the main methods: physical and medicinal. Currently, in the leading perinatal centers of the country, the opportunity is being created for babies to listen to music as part of multi-sensory developmental care. Specially processed short fragments of instrumental and vocal works by V. Mozart are used in recording, fragments of works of other classical composers, singing lullabies and folk songs performed by his mother. The reliable potentiating effect of musical therapy on adaptation responses of the immature nervous system is established, the connection of enrichment of the external environment with long-term outcomes of the perinatal lesion is discussed. The combination of tactile “kangaroo” – stimulation with the vocal influence of the mother has been proved to have a greater effect than the use of musical fragments in recording, and a strictly individual approach is needed to use music therapy in premature immature infants to avoid undesirable consequences.

L.O. Badalyan Neurological Journal. 2020;1(4):224-231
pages 224-231 views

Clinical case reports

Infantile parkinsonism-dystonia, type 1 (case report)
Kuzenkova L.M., Pak L.A., Kondakova O.B., Lyalina A.A., Tsygankova P.G., Kanivets I.V., Grebenkin D.I., Lapshina N.V.

Infantile parkinsonism-dystonia, type 1 (DTDS) (OMIM 613135) is a rare inherited autosomal recessive disease that manifests in infancy. The development of the disease is caused by a homozygous or compound-heterozygous mutation in the SLC6A3 gene (OMIM 126455), which encodes a dopamine Transporter localized on the short arm of chromosome 5 (5p15). The main pathogenetic mechanism of the disease is the loss of the function of the main dopamine transporter at the presynaptic level, which leads to a decrease in the reuptake of dopamine in the synaptic cleft, depletion of presynaptic dopamine reserves, and an increase in the amount of extraneuronal dopamine. Currently, there are 20 cases of this disease in children in the world. The main clinical manifestations of DTDS are various hyperkinesis patterns (dystonia, chorea, athetosis, etc.), followed by hypokinesia and rigidity, developing against the background of axial hypotension. Difficulties in differential diagnosis lead to the fact that many patients are observed for years with erroneous clinical diagnoses, including cerebral palsy, regularly receiving rehabilitation treatment without clinical effect. The mentioned above explains the need for clinicians to be aware of a rare disease — DTDS, which will avoid diagnostic errors, prescribe adequate therapy promptly, and thereby significantly improve the quality of life of patients and their families. The article contains an overview of the etiological, pathogenetic, epidemiological, diagnostic, and therapeutic aspects of DTDS. For the first time in Russia, there is reported a clinical case of this rare disease, which presents the own experience with DTDS patient.

L.O. Badalyan Neurological Journal. 2020;1(4):232-241
pages 232-241 views
Clinical experience of replacing enzyme replacement therapy in a patient with mucopolysaccharidosis type II
Kuzenkova L.M., Podkletnova T.V., Pak L.A., Ereshko O.A.

Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an inherited chronic progressive lysosomal disease associated with recessive X-linked inheritance. MPS II is classified as an orphan disease and occurs at a rate of 1.3 per 100,000 white boys. Hunter syndrome is the most common type of mucopolysaccharidosis, accounting for about 50% of MPS types. The disease’s pathogenesis is based on a violation of the stepwise cleavage of glycosaminoglycans (GAG) — heparansulfate and dermatansulfate caused by a deficiency of the iduronate-2-sulfatase enzyme encoded by the IDS gene. The existing deficiency or complete absence of iduronate-2-sulfatase leads to a violation of the final stage of glycosaminoglycan catabolism and the accumulation heparansulfate and dermatansulfate in all organs and tissues. Currently, there are two drugs registered in the Russian Federation for pathogenetic enzyme replacement therapy of MPS: idursulfase and idursulfase beta. This refers to the expansion of the therapeutic options for Hunter syndrome patients in the event of severe adverse events. It allows choosing the treatment regimen that will be optimal for the patient and will significantly improve the quality of life. In this article, the authors share their own experience of changing enzyme replacement therapy in an MPS II child patient.

L.O. Badalyan Neurological Journal. 2020;1(4):242-247
pages 242-247 views

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