Introduction. More than a billion people suffer from migraines worldwide. One of the most severe forms of this disease is chronic migraine, in which headache attacks occur 15 or more days a month (at least 8 of them are typical migraine attacks). According to the current clinical guidelines for the treatment of chronic hemicrania botulinum toxin A is used. Randomized multicenter placebo-controlled clinical trials have been conducted to date only for onabotulotoxin A. However, data on possible use of incobotulinumtoxin A for this purpose has appeared. It has a number of advantages. For example, it has lower risk of antibody formation, is stored at room temperature and more economical. So, the opportunity of its use for the treatment of chronic hemicrania has undoubted research and clinical interest.

Materials and methods. We conducted a retrospective study of outpatient records of twenty seven 23–25 years patients with chronic hemicraniawho received 4 courses of injections of incobotulinumtoxin A (Xeomin, «Merz», Germany) with 145 units subcutaneously at 31 point every 12 weeks. The results of treatment were evaluated after the 1^st and 4^th courses of injections of the drug.

Results. After the 1^st course of injections of incobotulinumtoxin A the days number with hemicrania decreased by more than 50% in 74.07% of patients, after the 4^th course the effect remained in 73.07%. After the 1^st and the 4^th course of injections a number of days with headache decreased by more than 50% in 48.14% and 50% of patients, respectively. Intensity of pain on the visual-analog scale (VAS) decreased by 41.3% in the remaining days. There was also a quantitative decrease of drugs intake on average by 67.2 ± 2.1%. There was a decline in the anxiety and depression level according to the Hospital Anxiety and Depression Scale (HADS) in patients with a positive treatment effect. All patients responded to therapy maintained a stable effect during botulinum therapy. The treatment was characterized by good tolerability, low frequency and insignificant severity of undesirable effects.

Limitations. This study has some limitations. The characteristics (age, hemicranias) in some patients appared to be inhomogeneous, and the sample is limited. It was also a retrospective analysis on the basis of one outpatient center, which may limit the applicability and generalization of the results obtained. In addition, this study was carried out in a conditions of real clinical practice, therefore, the study does not include a control group.

Conclusion. Thus, injections of incobotulinumtoxin A have shown a high level of efficacy and safety in the treatment of patients with chronic hemicrania.

Information about authors:

Contribution:
Shikhkerimov R.K. — concept, research design, coordination of the study, collection of material and data processing, review of publications on the topic, editing the article;
Istomina E.V. — obtaining data for analysis, analyzing the data obtained, review of publications on the topic, writing the text, editing the article;
Shikhkerimov K.R. — collection of material and data processing, writing the text.
All co-authors are responsible for the integrity of all parts of the manuscript and approval of its final version.

Acknowledgements. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: June 14, 2023
Accepted:  November 27, 2023
Published: December 28, 2023

Introduction. Electromyography (EMG) is a modern method of instrumental neurophysiological diagnostics, which includes two main techniques as nerve conduction studies and needle EMG. Parameters of motor nerve conduction studies have been used in a number of clinical studies to evaluate the effectiveness of treatment in children with spinal muscular atrophy (SMA) during the use of pathogenetic therapy (nusinersen). Now, in our country there are no verified normative parameters of motor nerve conduction studies in infants. It is also worth saying that neonatal screening for identifying SMA patients started in 2023 in our country, and currently gene therapy for this disease is increasingly used, so improving methods for instrumental assessment of the dynamics of the condition during treatment, including using EMG, is relevant.

Objective: to determine the normative parameters of motor nerve conduction studies in 1–6 months, 7–12 months, and 13–24 months infants without neurological pathology.

Materials and methods: The motor nerve conduction studies were carried out using a 2-channel electromyograph Neuro-MVP-Micro (Russia) with electrical stimulation of the ulnar nerve and registration of the compound muscle action potential (CMAP) from the abductor digiti minimi muscle. This made it possible to determine the main parameters of the negative peak of the CMAP — distal latency, amplitude and area, and calculate the motor nerve conduction velocity (MNCV) along the distal part of the ulnar nerve. The obtained data for each parameter were subject to normal distribution and presented in the form of mean and standard deviation (M±SD), minimum and maximum values (min – max).

Results: In the age range of 1–6 months, the amplitude of the CMAP (mV) was 5.0±1.0 (3.0–8.0); CMAP area (ms∙mV) — 9.1 ± 2.1 (5.5–12.9); distal latency (ms) — 2.2 ± 0.2 (1.6–2.5), MNCV (m/s) — 37.5 ± 5.4 (27.5–48.9). In the age range of 7–12 months, the amplitude of the CMAP (mV) was 6.2 ± 1.3 (3.8-9.3); CMAP area (ms∙mV) — 11.7 ± 3.0 (6.5–18.6); distal latency (ms) — 2.0 ± 0.2 (1.4–2.4), MNCV (m/s) – 48.4 ± 4.1 (42.1–55.2). In the age range of 13-24 months, the amplitude of the CMAP (mV) was 6.4 ± 0.6 (5.0-7.3); CMAP area (ms∙mV) — 13.3 ± 2.8 (9.8–18.2); distal latency (ms) — 2.2 ± 0.2 (1.8–2.5), MNCV (m/s) — 52.6 ± 3.8 (41.8–57.3).

Conclusion. For the first time, normative parameters of motor nerve conduction studies were obtained in 1–6, 7–12, and 13–24 months infants without neurological pathology. This will make it possible to objectify neurophysiological parameters in neuromuscular diseases in infants.

For correspondence: Daria A. Fisenko, MD, postgraduate student, neurologist of the Center of child psychoneurology, National Medical Research Center of Children’s Health, Moscow, 119991, Russian Federation. E-mail: fisenko.daria@mail.ru

Contribution:
Fisenko D.A. — concept and design of the review, writing the text, editing;
Kurenkov A.L. — concept and design of the review, writing the text, editing;
Kuzenkova L.M. — concept and design of the review, editing;
Chernikov V.V. — statistical data processing;
Uvakina E.V. — concept and design of the review, editing;
Bursagova B.I. — concept and design of the review, editing;
Popovich S.G. — concept and design of the review, editing.
All co-authors are responsible for the  integrity of all parts of the manuscript and approval of its final version.

Acknowledgements. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: October 23, 2023

Accepted:  November 30, 2023

Published: December 28, 2023

Sialorrhea is a common condition in various diseases that occur in neurological practice among adult patients and children. Excessive accumulation of saliva in the oral cavity and its release outside the oral cavity is a complex medical problem that often leads to complications of the underlying disease and requires independent treatment. Severe drooling leads to conditions that significantly limit the patient’s socialization, complicates his care, and places an additional economic burden on the patient’s family members. The range of treatment strategies aimed at reducing or eliminating sialorrhea is very wide and includes cognitive behavioral therapy, medication, botulinum toxin injections, and surgery. The choice of an available treatment option for sialorrhea is based on the severity of the underlying disease and the results of assessing the severity of saliva accumulation in the oral cavity. Drug therapy, as well as surgical treatments, are often accompanied by adverse events. A modern and safe method of treatment, with the fewest side effects, is the injection of botulinum toxin type A into the parotid and submandibular salivary glands. The absence of difficulties in using this treatment method allows it being recommended in routine medical practice by a neurologist trained in the administration of botulinum toxins. The article presents a review of the world literature over the past twenty years, as well as a standard scheme for the use of botulinum toxin type A (incobotulinumtoxinA) for the treatment of sialorrhea in adults and children, with justification for the use of the drug under mandatory ultrasound control and certain diseases under anesthesia.

Contribution:
Ivolgin A.F. — concept and design of the review, writing the text, editing;
Avseitseva T.Y. — writing the text;
Kurenkov A.L. — concept and design of the review, writing the text, editing;
Artemenko A.R. — writing the text, editing;
Mazur A.S. — writing the text, editing;
All co-authors are responsible for the integrity of all parts of the manuscript and approval of its final version.

Acknowledgements. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: August 23, 2023
Accepted: September 30, 2023
Published: December 28, 2023

Juvenile amyotrophic lateral sclerosis (ALS) is a rare group of motor neuron diseases, with the age of onset up to 25 years. Juvenile ALS more commonly has genetic origin vs. sporadic forms of ALS that develop in adulthood. Genetic analysis of these cases with early onset makes it possible to identify the genes responsible for the disease. Here we present a case of a rare variant of juvenile ALS caused due to the SPTLC2 gene mutation.

Cases with early disease onset are characterized by slow progression and variable phenotype, which often makes accurate diagnosis challenging. Therefore patients with combined upper and lower motor neuron disorders aged under 25 years should undergo comprehensive examination, in particular to identify gene mutations.

Contribution:
Abdullaeva L.M. — concept and design, text writing, editing;
Kurenkov A.L. — concept and design, text writing, editing;
Kuzenkova L.M. — editing;
Lyalina A.A. — editing;
Ioksha V.A. — editing.
All co-authors are responsible for the integrity of all parts of the manuscript and approval of its final version.

Acknowledgements. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received:  October 10, 2023
Accepted:  November 11, 2023
Published: December 28, 2023

Introduction. Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency) is an autosomal recessive disease from the heterogeneous group of disorders of mitochondrial β-oxidation of fatty acids caused by mutations in the ACAD9 gene. The disease is characterized by a wide range of clinical manifestations, the most common of which are metabolic acidosis, hypertrophic cardiomyopathy, muscle hypotonicity, and impaired motor skills. The article presents the first Russian clinical observation of a rare variant of hypertrophic cardiomyopathy with early debut in a patient with mitochondrial complex I deficiency caused by homozygous mutation c.659C>T (p.A220V) in the ACAD9 gene and emphasizes the importance of early diagnosis of the disease and complex drug therapy to prevent the development of severe complications.

Objective: to describe the clinical course and management of a patient with the pathogenic c.659C>T (p.A220V) variant of the ACAD9 gene.

Detailed analysis of anamnesis data, results of clinical, laboratory, instrumental diagnostic methods, and molecular genetic research performed using high-throughput sequencing and direct Sanger sequencing technology.

The article presents a literature review and detailed data on clinical observation of a child with homozygous c.659C>T (p.A220V) mutation in the ACAD9 gene diagnosed on the basis of the cardiology department of the National Medical Research Center for Children’s Health. Early disease markers and possibilities of complex drug therapy to prevent the development of severe complications are described.

Conclusion. Disruption of mitochondrial beta-oxidation of fatty acids is a heterogeneous group of inherited diseases due to abnormal mitochondrial beta-oxidation and transport of carnitine and fatty acids in mitochondria. A feature of these diseases is the multisystem nature of the lesion and its progressive course. In some cases, the initial clinical manifestations may be various disorders of the cardiovascular system (cardiomyopathy, heart rhythm disturbances), which may cause death in neonatal period and early childhood. Early molecular genetic research provides accurate diagnosis and, accordingly, timely prescription of complex therapy.

Compliance with ethical standards. The study protocol conforms to the ethical guidelines of the 1975 Declaration of Helsinki as reflected in a priori approval by the institution’s human research committee and was approved by the Ethics. The design of the study was approved by the Ethics committee of the National Research Center for Children’s Health of the Russian Ministry of Health.

Contribution:
Gandaeva L.A. — concept and design of the study, collection and processing of material, text editing, approval of the final version of the article;
Basargina E.N. — text editing; approval of the final version of the article;
Davydova Yu.I. — collection and processing of material, text writing; 
Burykina Yu.S. — collection and processing of material, text writing;
Silnova I.V. — collection and processing of material, text writing; 
Pushkov A.A. — collection and processing of material, text writing;
Savostyanov K.V. — concept and design of the study, text editing, approval of the final version of the article.
All co-authors are responsible for the  integrity of all parts of the manuscript and approval of its final version.

Conflict of interest. The authors declare no conflict of interest.

Acknowledgements. The study had no sponsorship. The authors are grateful to the patient’s family for their supporting our research. The authors would like to express their gratitude to Professor A.P. Fisenko, Director of the National Medical Research Center for Children’s Health of the Ministry of Health of the Russian Federation for his support and technical assistance in implementation of this work. The authors would like to thank the entire staff of the National Medical Research Center for Children’s Health for the opportunity of interdisciplinary approach to patient care.

Received: August 14, 2023
Accepted: September 30, 2023
Published: December 28, 2023

Biofeedback is increasingly used in practice due to diversity, the possibility of visualization of corrective functions, and the availability of objective indicators for assessing the dynamics of the training process. Biofeedback training helps to teach patients to skills that alleviate their condition, support active functioning, thereby increasing the quality of life. One of the simple methods of biofeedback is cardiorespiratory training, during which the patient learns the skill of diaphragmatic relaxation breathing, which is effective in rehabilitation for various pathologies, especially in pediatric practice. This type of biofeedback is based on the control of breathing and heart rate variability (HRV). HRV reflects the body’s ability to quickly recover from exposure to mental and physical stress factors. HRV is a unique marker of a person’s cardiovascular and psychophysiological health. This clinical example demonstrates a case of respiratory correction in a patient with comorbidities (multiple sclerosis, essential arterial hypertension, and panic disorder). The training was chosen as the most optimal for improving the patient’s quality of life, in respect that the leading complaint was panic attacks. One of the main goals of rehabilitation for this child is to teach the skills of diaphragmatic relaxation breathing, which allowed the patient learning to cope with future panic attacks, reduce anxiety and thereby improve his well-being. The article describes in detail the course of the training, recommended exercises for daily use, and presents the positive trend in the recorded indicators and the patient’s condition by the end of the course. Cardiorespiratory training is an effective and understandable method of rehabilitation that can be actively used in practice for an objective assessment of the classes performed and for psycho-emotional correction in children and adolescents with various pathologies.

Compliance with ethical standards. Written consent was obtained from the patient for publication of relevant medical information and all of accompanying images within the manuscript.

Contributions:
Sakharova E.V. — concept, writing, editing the text;
Konova O.M. — concept, editing the text.
All co-authors are responsible for the integrity of all parts of the manuscript and approval of its final version.

Acknowledgements. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: August 25, 2023

Accepted:  November 15, 2023

Published: December 28, 2023

Angelman syndrome (AS) is an orphan disease caused by loss of function of the maternal allele of the UBE3A gene on chromosome 15 (region 15q11.2-q13), characterized by severe mental and speech retardation, movement disorders, unique behavior in the form of frequent laughter, and epileptic seizures with characteristic anomalies in  EEG. Epilepsy is often drug-resistant, generalized seizure types dominate, among which myoclonic seizures and atypical absences are the most common. Infantile spasms are rare in AS children, but the EEG pattern, especially in infancy, in the form of diffuse slow-wave activity with multiregional and generalized epileptiform activity, may resemble a hypsarrhythmia pattern. We present own observation of a child in whom the EEG was incorrectly described as a hypsarrhythmia pattern, and hormonal therapy was prescribed with suspicion of epileptic spasms. In this article, we made a brief review of the literature on the treatment of epilepsy in AS patients with a recommended algorithm for choosing an antiepileptic drug (AED). In young children with developmental delay, a routine EEG pattern similar to hypsarrhythmia, but with out of clinical and EEG patterns of spasms, it is necessary to conduct video-EEG monitoring with recording of sleep, to exclude the “pseudo-hypsarrhythmia” pattern, which is especially important when Angelman syndrome is suspected. In the treatment of epilepsy in Angelman syndrome, it is necessary to adhere to the recommended, according to the literature, algorithm for choosing AEDs.

Compliance with ethical standards. Informed voluntary consent was obtained from the patient’s parents.

Contribution:
Gorchkhanova Z.K. — concept, writing text;
Belousova E.D. — concept, writing text;
Nikolaeva E.A. — concept, editing;
Pivovarova A.M. — editing.
All co-authors — responsibility for the integrity of all parts of the manuscript and approval of its final version.

Conflict of interest. The authors declare no conflict of interest.

Acknowledgement. The study had no sponsorship.

Received: June 21, 2023
Accepted:  August 30, 2023
Published: October 13, 2023