Introduction. Age-dependent focal epilepsy in childhood (ADFEC) is the most common epileptic syndrome in childhood, accounting for about 15-20% of all forms of the disease in this age cohort. Special attention in the problem of ADFEC is paid to epileptiform activity, which tends to increase its severity during slow-wave sleep, whose effect on the neuro-cognitive development in patients is actively discussed today and requires further study. It has also been established that in some patients with ADFEC, during the active stage of the disease, it is possible to form the phenomenon of prolonged spike-wave activation during sleep, characteristic of the eponymous epileptic encephalopathy syndromes.

Objective. To evaluate the effect of epileptiform activity on the state of intellectual functions in children with ADFEC syndromes.

Materials and methods. The study included thirty four children with age-dependent focal epilepsy of childhood; the diagnosis was based on medical history, neurological and instrumental examinations in accordance with the ILAE criteria of 2022. All children underwent video EEG monitoring of sleep to calculate the spike wave index (SVI), a study using the Wechsler intelligence test, the children’s version (WISC-II) and the Vineland-2 adaptive behavior scale (VABS-2).

Results. An increase in SVI of more than 50% was observed in 13 patients (38.2%), and in 8 patients the phenomenon of prolonged spike wave activation during sleep (23.2%) was recorded. When studying the level of intelligence using the Wechsler method (WISC-2), the following average values were obtained: verbal IQ — 103.15, non-verbal IQ — 111.03, general IQ — 107.12. Inverse correlations have been revealed between the value of SVI and indicators of intellectual development, SVI and indicators of adaptive behavior.

Conclusion. A high level of SVI has a significant impact on the indicators of intellectual development in children with ADFEC syndromes. The inverse correlation between SVI values and IQ indicators indicates to the importance of controlling the epileptiform activity index to prevent cognitive impairment, which is especially important not only for children with epileptic encephalopathy syndromes with spike-wave activation during sleep, but also for ADFEC patients. A significant decrease in IQ scores with age has been found in children with ADFEC syndromes, which requires further study.

Compliance with ethical standards. The study was conducted in accordance with the principles of the Declaration of Helsinki. All patients or their legal representatives signed voluntary informed consent.

Contribution:
Maslov M.S. — data collection and analysis, review of publications, writing the text of the manuscript;
Kholin A.A. — data analysis, writing the text of the article, final approval for the publication of the manuscript; 
Zavadenko N.N. — writing the text of the article, final approval for the publication of the manuscript.
All co-authors — approval of the final version of the manuscript, responsibility for the integrity of all parts of the manuscript.

Funding. The study had no sponsorship.

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

Received: June 3, 2025
Accepted: July 7, 2025
Published: October 31, 2025

Introduction. Aim. Assessment of the trend in the motor activity by collecting anamnestic data and dynamic monitoring of patients with Duchenne myodystrophy caused by nonsense mutation (nmMDD) in the Moscow region and receiving pathogenetic therapy with ataluren.

Materials and methods. Dynamic monitoring of thirteen nmMDD patients was carried out on the basis of the Center for Pediatric Neuropsychiatry (CDPN) of the Scientific Research Clinical Institute of Childhood of the Moscow region. In this study, a retrospective analysis of anamnestic data, motor activity of patients according to the tests “North Star” (NSAA), and 6-minute walk (6MWT) was performed. To evaluate the effectiveness of ataluren therapy, an indirect comparison was performed with data from the STRIDE and CINRG DNHS registries.

Results. In the study group of patients (n = 13), the age of onset of independent walking was 15.7 ± 4.5 months, and the age of diagnosis was 60.2 ± 21.7 months (5.0 ± 1.8 years). 92% of patients (n = 12) receive glucocorticosteroids (GCS), 5 of them take prednisone, and 7 take deflazacort. The average age at the start of taking GCS was 7.1 ± 0.9 years. The age of initiation of pathogenetic therapy with ataluren was 7.0 ± 1.3 years. The duration of patient follow-up ranged from 1.5 to 8 years. Data on patients with verified results of spirometry (46%) and echocardiography (92%) over the past 12 months were distributed as follows: no decrease in left ventricular ejection fraction was recorded, a decrease in forced pulmonary vital capacity of mild degree was observed in 1 patient. 8 (62%) patients receive regular rehabilitation measures. The NSAA test (n = 10) and the 6-minute walking test (n = 8) were used to assess motor functions. When analyzing the data using the 6-minute walk test, an increase in the distance traveled was observed in 6 (75%) patients, and a decrease in 2 (25%). The results of the NSAA test showed improvement in 2 (20%) patients, stabilization in 6 (60%), and deterioration in 2 (20%) (including loss of outpatient care in 1).

Conclusion. Timely diagnosis and treatment of patients in accordance with clinical guidelines play a key role in the successful treatment in DMD patients. Pathogenetic therapy with ataluren slows down the rate of disease progression and improves the survival nmMDD patients.

Compliance with ethical standards. Voluntary informed consent was obtained from the legal representatives of all patients.

For correspondence: Fatima I. Nakhusheva, e-mail nakhusheva@mail.ru

Contribution:
Nakhusheva F.I. — concept and design of the article, text writing, editing;
Serov A.V. — concept and design of the article, text writing, editing;
Lapochkin O.L. — editing.
All co-authors — approval of the final version of the manuscript, responsibility for the integrity of all parts of the manuscript.

Conflict of interest. Nakhusheva F.I., Lapochkin O.L. are lecturers receiving honoraria from the pharmaceutical company PTC Therapeutics LLC.

Funding. The study had no sponsorship.

Received: August 20, 2025
Accepted:September 9, 2025
Published: October 31, 2025

Introduction. Ataxic cerebral palsy (CP) is the least common of all forms of CP, occurring in less than 1 in 10 CP patients. By the age of 5 years, more than half of these children have their diagnosis reconsidered and other conditions not related to CP are confirmed. There is accumulating evidence that a number of genetic diseases may be characterized by phenotypic similarities to the ataxic form of CP. Some of them manifest themselves from birth, while others manifest later and have a progressive course.

Objective. To study the features of the clinical picture, laboratory, and instrumental data that allow distinguishing patients with ataxic СP from patients with hereditary forms of ataxia.

Materials and methods. The study included fifty nine children aged 1 to 3 years and 8 months, who were divided into three groups: with confirmed ataxic CP (n = 29), hereditary diseases (ataxia with a confirmed genetic diagnosis) (n = 13), with progressive ataxia of presumably genetic origin, not finally verified (n = 17). All children underwent a detailed assessment of the anamnesis, neurological examination, neuroimaging (MRI). The severity of motor disorders was assessed using the GMFSC scale, and the severity of ataxia was assessed using the Pediatric Ataxia Scale (PAS) developed by us. The PAS was used to evaluate the development of motor skills and symptoms indicating to the impairment of the central nervous system structures responsible for the coordination of movements. According to the total score, the ataxia severity was considered as mild (1–8 points), moderate (9–13 points) and severe (14–23 points). All patients were followed for 5 years.

Results. At inclusion in the study, there were no significant differences in the PAS average scores between the groups, and most patients had moderate ataxia. However, the trend in the PSA scores over the five-year observation period of patients turned out to be multidirectional: in children with ataxic CP, they tended to stabilize and gradually improve, whereas for patients in the groups with hereditary and presumably genetic ataxias, their steady deterioration was characteristic due to the increase in motor disorders. It should be emphasized that the trend in the PSA scores in patients of the last two groups are similar.

According to MRI data, changes typical of hypoxic-ischemic lesion in the form of periventricular leukopathy prevailed in the CP group (73.3%). Another frequently detected abnormality was cerebellar hypoplasia (46.4%). In the group of hereditary ataxias, periventricular leukopathy was somewhat less common (61.5%), other findings were cortical atrophy (30.7%), hypomyelination (7.6%), brainstem hypoplasia (7.6%) and cerebellar atrophy (7.6%).

Conclusion. The main criteria of differential diagnosis between hereditary ataxias and the ataxic form of CP are represented by the progression in the clinical picture of the disease, increasing abnormalities on the MRI and molecular genetic identification of mutations that determine diseases accompanied by ataxia in childhood.

Compliance with ethical standards. The study was conducted in accordance with the principles of the Declaration of Helsinki. The study was approved by the Local Ethics Committee of the N.I. Pirogov Russian National Research Medical University (Pirogov University), Moscow, 117513, Russian Federation; (extract from the minutes of meeting No. 180 dated 12/17/2028). All patients or their legal representatives signed voluntary informed consent.

Contribution:
Razheva D.S. — data collection and analysis, review of publications, writing the text of the manuscript;
Khondkarian G.Sh. — data analysis, writing the text of the article, final approval for the publication of the manuscript;
Zavadenko N.N. — concept development, writing the text of the article, final approval for the publication of the manuscript.
All co-authors — approval of the final version of the manuscript, responsibility for the integrity of all parts of the manuscript.

Funding. The study had no sponsorship.

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

Received: September 1, 2025
Accepted: September 22, 2025
Published: October 31, 2025

The aim of the study is to analyze all current data on the role of the level of circulating neurofilament as a biomarker for spinal muscular atrophy (SMA) during gene therapy with onasemnogene abeparvovec. SMA is an orphan, inherited autosomal recessive disorder caused by defects in the SMN1 gene, which encodes the SMN protein. SMA is characterized by the loss of alpha motor neurons in the spinal cord, leading to progressive muscle weakness. Onasemnogene abeparvovec is a gene therapy aimed at restoring SMN protein expression in SMA. The review emphasizes the need to develop a panel of biomarkers to assess the severity of SMA and the effectiveness of therapy, as clinical methods are often insufficiently sensitive for monitoring treatment response. Neurofilaments, structural proteins of axons released during neuronal damage are considered promising biomarkers reflecting the degree of neurodegeneration and disease course. However, to date, the number of studies examining the use of circulating neurofilaments in SMA therapy with onasemnogene abeparvovec is limited, requiring further clinical and laboratory studies to confirm their significance. This review systematizes existing data on the molecular genetic basis of SMA pathogenesis, current treatments, and the potential of neurofilaments as biomarkers in gene therapy with onasemnogene abeparvovec. It concludes that further research in this area is needed to optimize a personalized approach to treating patients with SMA.

Contribution:
Chudakova D.A. — concept, material collection and data processing, review of publications on the topic, writing the text, article editing;
Uvakina E.V. — concept and design of the article, review of publications on the topic, writing the text, article editing.
All co-authors — approval of the final version of the manuscript, responsibility for the integrity of all parts of the manuscript.

Funding. The work was carried out as part of the implementation of the state task and the research work “Study of the etiological features of rare diseases with pathogenetic therapy” № 1220032300501-0.

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

Received: September 2, 2025
Accepted: September 16, 2025
Published: October 31, 2025

The purpose of this article is to provide an up-to-date status and outcomes of neonatal screening programs for spinal muscular atrophy (SMA) undertaken in the Russian Federation and other countries, as well as to conduct comparative analysis of these approaches. SMA is one of the most common hereditary neuromuscular disorders that leads to the death in early age. Globally, there is an increasing trend toward incorporating SMA diagnostics into national neonatal screening programs. The key key stages of the SMA diagnostics include the initial identification of high-risk patients using quantitative PCR, followed by confirmatory diagnostics, commonly performed by MLPA. Analyses of global pilot newborn screening projects worldwide have shown the highest incidence of SMA to be 18.71 cases per 100 000 newborns in Japan (Hyōgo Prefecture). In Europe, the greatest incidence was documented in Italy, Germany, and Spain (Valencia). According to the results of expanded neonatal screening conducted in the Russian Federation the SMA prevalence was 9.5 per 100 000 screened newborns. The availability of effective disease-modifying therapies underscores the importance of identifying SMA at the presymptomatic stage to achieve better outcomes in terms of clinically meaningful long-term endpoints. Nowadays there are three disease-modifying drugs that are approved in the Russian Federation: nusinersen, risdiplam, and onasemnogene abeparvovec, which confirms the importance of inclusion neonatal screening for SMA in national neonatal screening program in the Russian Federation.

Contribution:
Voronin S.V. — concept and design, editing;
Mukhortova P.A. — writing the text, editing;
Slabikova A.A. — concept and design, writing the text, editing;
Omelyanovskiy V.V. — editing.
All co-authors — approval of the final version of the manuscript, responsibility for the integrity of all parts of the manuscript.

Funding. The study had no sponsorship.

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

Received: July 27, 2025
Accepted: August 28, 2025
Published: October 31, 2025

Pain is one of the most common non-motor symptoms of the Parkinson’s disease (PD), affecting up to 85% of patients at different stages of the disease. Despite its high prevalence, pain syndrome often remains in the “blind spot” of both diagnosticians and patients themselves, who have adapted to persistent discomfort. One of the reasons for the insufficient attention to pain in PD is the lack of a unified classification and, consequently, the absence of a diagnostic tool that would allow a systemtatic and objective assessing of all aspects of pain syndrome in PD patients. In this review, we present leading theories on the pathogenesis of pain syndrome in PD, evaluate their reflection in existing classifications, and analyze the practicality and effectiveness of scales and questionnaires used for pain assessment in PD. Particular attention is paid to key pain subtypes, including nociceptive, neuropathic, and nociplastic pain, and their significance in clinical practice. A fundamentally new aspect, not covered in earlier reviews, is the concept of “Park-pain” — a specific course of PD in which pain becomes the dominant non-motor symptom, accompanied by pronounced psycho-emotional disturbances. Our findings indicate current trends in the understanding of pain in PD patients to be not adequately reflected in existing classifications, highlighting the need for a new diagnostic paradigm that incorporates modern perspectives on the nature of pain and its impact on the quality of life.

Contributions:
Smirnova E.V. — research concept, manuscript writing;
Zhukova N.G. — manuscript writing, text editing.
All co-authors — approval of the final version of the manuscript, responsibility for the integrity of all parts of the manuscript.

Funding. The study had no sponsorship.

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

Received: June 27, 2025
Accepted: July 7, 2025
Published: October 31, 2025