Pub Date : 2023-06-26DOI: 10.17650/2073-8803-2023-18-1-46-51
G. Golosnaya, N. A. Ermolenko, O. Krasnorutskaya, V. L. Efimova, T. Larionova, M. D. Tysyachina
In this article, we report a case of CTNNB1 syndrome (CTNNB1-NDD) in a child with cerebral palsy and also provide a literature review on the problem. CTNNB1 syndrome is an exceedingly rare and poorly studied disorder, which makes it particularly interesting due the difficulties associated with its diagnosis and description of the disease phenotype, as well as highly polymorphic clinical manifestations. Verification of the diagnosis is important to determine the prognosis of a child with cerebral palsy and visual impairment, as well as for reproductive planning in the family.
{"title":"CTNNB1 syndrome (CTNNB1-NDD) in a child with cerebral palsy: a case report","authors":"G. Golosnaya, N. A. Ermolenko, O. Krasnorutskaya, V. L. Efimova, T. Larionova, M. D. Tysyachina","doi":"10.17650/2073-8803-2023-18-1-46-51","DOIUrl":"https://doi.org/10.17650/2073-8803-2023-18-1-46-51","url":null,"abstract":"In this article, we report a case of CTNNB1 syndrome (CTNNB1-NDD) in a child with cerebral palsy and also provide a literature review on the problem. CTNNB1 syndrome is an exceedingly rare and poorly studied disorder, which makes it particularly interesting due the difficulties associated with its diagnosis and description of the disease phenotype, as well as highly polymorphic clinical manifestations. Verification of the diagnosis is important to determine the prognosis of a child with cerebral palsy and visual impairment, as well as for reproductive planning in the family.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"54 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134486506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-06-25DOI: 10.17650/2073-8803-2023-18-1-10-21
V. E. Avdeeva, A. Kotov
Acute disseminated encephalomyelitis is an acute autoimmune demyelinating disease that manifests as a widespread polyfocal asymmetric lesions of the central nervous system and, in some cases, optic nerves with the formation of corresponding neurological symptoms. This lecture presents basic information about acute disseminated encephalomyelitis with consideration of 5 clinical cases demonstrating the variety of manifestations of this disease in the practice of a neurologist.
{"title":"Clinical polymorphism of acute disseminated encephalomyelitis: diagnosis, treatment, long-term prognosis. Lecture with the description of clinical cases","authors":"V. E. Avdeeva, A. Kotov","doi":"10.17650/2073-8803-2023-18-1-10-21","DOIUrl":"https://doi.org/10.17650/2073-8803-2023-18-1-10-21","url":null,"abstract":"Acute disseminated encephalomyelitis is an acute autoimmune demyelinating disease that manifests as a widespread polyfocal asymmetric lesions of the central nervous system and, in some cases, optic nerves with the formation of corresponding neurological symptoms. This lecture presents basic information about acute disseminated encephalomyelitis with consideration of 5 clinical cases demonstrating the variety of manifestations of this disease in the practice of a neurologist.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129911267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-06-25DOI: 10.17650/2073-8803-2023-18-1-65-69
A. Editorial
.
．
{"title":"Neurofibromatosis type 1 and its complication – plexiform neurofibromas","authors":"A. Editorial","doi":"10.17650/2073-8803-2023-18-1-65-69","DOIUrl":"https://doi.org/10.17650/2073-8803-2023-18-1-65-69","url":null,"abstract":"<jats:p>.</jats:p>","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"19 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131299035","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-06-25DOI: 10.17650/2073-8803-2023-18-1-22-37
E. K. Erokhina, E. Melnik, D. Vlodavets
Myotonic dystrophy type 1 (DM1) is one of the most common neuromuscular diseases with an autosomal dominant type of inheritance associated with expansion in the DMPK gene. A distinctive feature of the disease is the presence of muscle symptoms and multisystemic. Depending on the age of onset and the number of CTG repeats, there are congenital, infantile, juvenile, classic (adult) form and a form with a late onset. Each form is characterized by its own features of the onset, course of the disease, heterogeneity of clinical manifestations, which makes it difficult to make a timely diagnosis. Increasing the awareness of physicians of all specialties about the nature of the course of various forms will make it possible to diagnose MD1 at an earlier stage, improve the prognosis and quality of life of patients. The article provides a literature review that demonstrates the spectrum of clinical manifestations in various forms of MD1.
{"title":"Clinical characteristics of different forms of myotonic dystrophy type 1","authors":"E. K. Erokhina, E. Melnik, D. Vlodavets","doi":"10.17650/2073-8803-2023-18-1-22-37","DOIUrl":"https://doi.org/10.17650/2073-8803-2023-18-1-22-37","url":null,"abstract":"Myotonic dystrophy type 1 (DM1) is one of the most common neuromuscular diseases with an autosomal dominant type of inheritance associated with expansion in the DMPK gene. A distinctive feature of the disease is the presence of muscle symptoms and multisystemic. Depending on the age of onset and the number of CTG repeats, there are congenital, infantile, juvenile, classic (adult) form and a form with a late onset. Each form is characterized by its own features of the onset, course of the disease, heterogeneity of clinical manifestations, which makes it difficult to make a timely diagnosis. Increasing the awareness of physicians of all specialties about the nature of the course of various forms will make it possible to diagnose MD1 at an earlier stage, improve the prognosis and quality of life of patients. The article provides a literature review that demonstrates the spectrum of clinical manifestations in various forms of MD1.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"2 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128561400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-05-18DOI: 10.17650/2073-8803-2022-17-4-44-53
S. Gulyaev
Background. The term “postcovid syndrome” is firmly entrenched in medical terminology, but many aspects of its clinical manifestations are not well understood. Aim. To establish the presence of the nature and severity of changes in the bioelectrical activity of the brain in COVID-19 survivors, as well as their relationship with the formed clinical neurological and neuropsychological syndromes during convalescence. Materials and methods. A dynamic study was conducted of 38 COVID-19 survivors returning to work. Neurophysiological studies were carried out using the EGI-GES-300 system (128 channels). The descriptive characteristics of electroencephalograms were built on the method of studying the spectral density of the electroencephalographic signal on the surface of the scalp, and the dynamic characteristics of the signal were studied by fixing electroencephalographic microstates, using the method of D. Lemmon and T. Kenning. Results and conclusions. In the study, a relatively new diagnostic technique for studying cognitive impairments based on the analysis of electroencephalographic microstates was implemented, which made it possible to identify signs of functional restructuring of the neuronal macronetworks of the brain and trace the characteristic adaptation of a person during the period of convalescence.
{"title":"Dynamic electroencephalographic study of persons – mild COVID-19 convalescents","authors":"S. Gulyaev","doi":"10.17650/2073-8803-2022-17-4-44-53","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-4-44-53","url":null,"abstract":" Background. The term “postcovid syndrome” is firmly entrenched in medical terminology, but many aspects of its clinical manifestations are not well understood. Aim. To establish the presence of the nature and severity of changes in the bioelectrical activity of the brain in COVID-19 survivors, as well as their relationship with the formed clinical neurological and neuropsychological syndromes during convalescence. Materials and methods. A dynamic study was conducted of 38 COVID-19 survivors returning to work. Neurophysiological studies were carried out using the EGI-GES-300 system (128 channels). The descriptive characteristics of electroencephalograms were built on the method of studying the spectral density of the electroencephalographic signal on the surface of the scalp, and the dynamic characteristics of the signal were studied by fixing electroencephalographic microstates, using the method of D. Lemmon and T. Kenning. Results and conclusions. In the study, a relatively new diagnostic technique for studying cognitive impairments based on the analysis of electroencephalographic microstates was implemented, which made it possible to identify signs of functional restructuring of the neuronal macronetworks of the brain and trace the characteristic adaptation of a person during the period of convalescence.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"66 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115329890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-05-18DOI: 10.17650/2073-8803-2022-17-4-33-43
N. Romanovskiy
This article analyzes the dynamics of early comprehensive psychological and pedagogical care for children aged 3 years with autism spectrum disorders (ASD) using the DIR/Floortime approach. The experimental group included 18 ASD patients aged 3 years who attended a special program in Svt. Luka’s Center for Health and Development (Moscow) on a regular basis (2–3 times a week). The comprehensive program included weekly individual classes of 4 types: Floortime therapy, kinesotherapy with elements of sensory integration, game speech therapist-defectologist, and sensory-gaming group. The control group included 19 ASD patients aged 3 years who did not attend special classes. We used the Vineland Adaptive Behavior Scale (VABS) and Functional Emotional Assessment Scale (FEAS) for examination. Children were examined at baseline and after 3 months. We found that children from the experimental group had a significant positive dynamics in their communication skills, daily living skills, motor development, desire for emotional contact, communicative initiative, and two-way interaction. Children from the control group did not demonstrate any significant dynamics of these parameters.
{"title":"Dynamics of early rehabilitation care for children with autism spectrum disorder using the DIR/Floortime approach at St. Luke’s Center for Health and Development","authors":"N. Romanovskiy","doi":"10.17650/2073-8803-2022-17-4-33-43","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-4-33-43","url":null,"abstract":" This article analyzes the dynamics of early comprehensive psychological and pedagogical care for children aged 3 years with autism spectrum disorders (ASD) using the DIR/Floortime approach. The experimental group included 18 ASD patients aged 3 years who attended a special program in Svt. Luka’s Center for Health and Development (Moscow) on a regular basis (2–3 times a week). The comprehensive program included weekly individual classes of 4 types: Floortime therapy, kinesotherapy with elements of sensory integration, game speech therapist-defectologist, and sensory-gaming group. The control group included 19 ASD patients aged 3 years who did not attend special classes. We used the Vineland Adaptive Behavior Scale (VABS) and Functional Emotional Assessment Scale (FEAS) for examination. Children were examined at baseline and after 3 months. We found that children from the experimental group had a significant positive dynamics in their communication skills, daily living skills, motor development, desire for emotional contact, communicative initiative, and two-way interaction. Children from the control group did not demonstrate any significant dynamics of these parameters.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"17 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125268092","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-05-18DOI: 10.17650/2073-8803-2022-17-4-54-62
M. Bobylova
This article outlines the current concept of attention deficit hyperactivity disorder (ADHD) pathogenesis from the standpoint of neuroanatomy and impairments of neurotransmitter metabolism. N-acetyl-aspartate and N-acetyl-aspartyl-glutamate are crucial for ADHD development. These substances are involved in the interaction of neuronal networks, myelin maturation, and functioning of excitatory neurotransmitters (glutamatergic system). The active substance of Cogitum is a synthetic analogue of N-acetyl-aspartate. We analyzed the efficacy of Cogitum in 249 ADHD children with or without subclinical epileptiform activity on the electroencephalogram (children with cerebral palsy and epileptic seizures were excluded). Cogitum was most effective in improving attention, memory, and speech. None of the children had aggravation of epileptiform activity or developed epileptic seizures during treatment. Therefore, Cogitum is a safe drug to alleviate ADHD manifestations in children with subclinical epileptiform activity on the electroencephalogram.
{"title":"Cogitum in the treatment of children with attention deficit hyperactivity disorder and subclinical epileptiform activity on the electroencephalogram","authors":"M. Bobylova","doi":"10.17650/2073-8803-2022-17-4-54-62","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-4-54-62","url":null,"abstract":" This article outlines the current concept of attention deficit hyperactivity disorder (ADHD) pathogenesis from the standpoint of neuroanatomy and impairments of neurotransmitter metabolism. N-acetyl-aspartate and N-acetyl-aspartyl-glutamate are crucial for ADHD development. These substances are involved in the interaction of neuronal networks, myelin maturation, and functioning of excitatory neurotransmitters (glutamatergic system). The active substance of Cogitum is a synthetic analogue of N-acetyl-aspartate. We analyzed the efficacy of Cogitum in 249 ADHD children with or without subclinical epileptiform activity on the electroencephalogram (children with cerebral palsy and epileptic seizures were excluded). Cogitum was most effective in improving attention, memory, and speech. None of the children had aggravation of epileptiform activity or developed epileptic seizures during treatment. Therefore, Cogitum is a safe drug to alleviate ADHD manifestations in children with subclinical epileptiform activity on the electroencephalogram.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"32 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130218687","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-05-18DOI: 10.17650/2073-8803-2022-17-4-24-32
A. Kozlova, M. Korsakova, N. A. Arkhipova, P. Vlasov, A. Melikyan, L. Shishkina, E. Masherov
Aim. To reveal relation of change in intraoperative electroencephalography (EEG), electrocorticography (EсoG) with age of patients, the anamnesis duration, localization and type of pathology, the result of treatment. Materials and methods. 64 patients with symptomatic epilepsy operated at N.N. Burdenko National Medical Research Center of Neurosurgery of the Ministry of Health of Russia from 2010 to 2016. 28 males, 36 females, age from 3 months to 18 years, on average 7,2 years. The pathology localization: temporal – 21 cases, occipital and parietal – 18, frontal – 25. Pathomorphology: 12 patients with focal cortical dysplasia (FCD) I, 20 patients with FCD II, 5 patients with FCD III, 4 patients with tuberous sclerosis, 20 patients with low grade tumors, and 3 cases else. The duration of diseaseis from 61 to 5081 days. Catamnesis (follow-up) ranged from 364 to 1877 days. There was four criteria for including patients in research: intraoperative EEG, presence of initial and control registration of EсoG, follow-up above 364 days. There are three hallmarks selected as significant concerning the efficiency of neurophysiological monitoring: 1) the positive changes in scalp EEG: decrease of interhemispheric asymmetry due to reduction of slow activity on the side of pathology; significant reduction of the unilateral epileptiform activity on the side of pathology and bilateral if exist; 2) the positive changes in EсoG: significant reduction of the regular epileptiform activity; 3) the absence or existence of residual epileptiform activity in adjacent to resected pathology sites. The statistical processing carried out with application of a Stat10 package. Results. The more expressed positive dynamics of EEG were revealed in patients of smaller age already during operation. A correlation was found between the age of patients and the positive dynamics of intraoperative EEG. An inverse correlation was found between the duration of the disease and the positive dynamics of the scalp EEG during surgery (p = 0.1560). The EEG changes during surgery were shown more often with reduction of the seizure anamnesis. There was found out that residual epileptiform activity on ECoG occurred more often at patients with longer anamnesis of a disease and at patients with frontal localization of pathology. The residual epileptiform activity on ECoG was registered more often at patients with preservation of seizures (outcomes 2, 3, 4, 5 ILAE). Conclusions. During resective interventions for symptomatic epilepsy in children the probability of positive changes was the more, the younger the patient was. Intraoperative ECoG is one of the useful tools in epilepsy surgery, but it does not definitely determine success. There was no statistically significant relationship between the presence of residual epileptiform signs on the ECoG in the cortex adjacent to the removal area and the outcome of surgical treatment for seizures. Patients in follow-up had three times fewer seizures
{"title":"The relation of changes in intraoperative EEg and ECog with age, anamnesis duration and outcome of surgical treatment in children with symptomatic epilepsy","authors":"A. Kozlova, M. Korsakova, N. A. Arkhipova, P. Vlasov, A. Melikyan, L. Shishkina, E. Masherov","doi":"10.17650/2073-8803-2022-17-4-24-32","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-4-24-32","url":null,"abstract":"Aim. To reveal relation of change in intraoperative electroencephalography (EEG), electrocorticography (EсoG) with age of patients, the anamnesis duration, localization and type of pathology, the result of treatment. Materials and methods. 64 patients with symptomatic epilepsy operated at N.N. Burdenko National Medical Research Center of Neurosurgery of the Ministry of Health of Russia from 2010 to 2016. 28 males, 36 females, age from 3 months to 18 years, on average 7,2 years. The pathology localization: temporal – 21 cases, occipital and parietal – 18, frontal – 25. Pathomorphology: 12 patients with focal cortical dysplasia (FCD) I, 20 patients with FCD II, 5 patients with FCD III, 4 patients with tuberous sclerosis, 20 patients with low grade tumors, and 3 cases else. The duration of diseaseis from 61 to 5081 days. Catamnesis (follow-up) ranged from 364 to 1877 days. There was four criteria for including patients in research: intraoperative EEG, presence of initial and control registration of EсoG, follow-up above 364 days. There are three hallmarks selected as significant concerning the efficiency of neurophysiological monitoring: 1) the positive changes in scalp EEG: decrease of interhemispheric asymmetry due to reduction of slow activity on the side of pathology; significant reduction of the unilateral epileptiform activity on the side of pathology and bilateral if exist; 2) the positive changes in EсoG: significant reduction of the regular epileptiform activity; 3) the absence or existence of residual epileptiform activity in adjacent to resected pathology sites. The statistical processing carried out with application of a Stat10 package. Results. The more expressed positive dynamics of EEG were revealed in patients of smaller age already during operation. A correlation was found between the age of patients and the positive dynamics of intraoperative EEG. An inverse correlation was found between the duration of the disease and the positive dynamics of the scalp EEG during surgery (p = 0.1560). The EEG changes during surgery were shown more often with reduction of the seizure anamnesis. There was found out that residual epileptiform activity on ECoG occurred more often at patients with longer anamnesis of a disease and at patients with frontal localization of pathology. The residual epileptiform activity on ECoG was registered more often at patients with preservation of seizures (outcomes 2, 3, 4, 5 ILAE). Conclusions. During resective interventions for symptomatic epilepsy in children the probability of positive changes was the more, the younger the patient was. Intraoperative ECoG is one of the useful tools in epilepsy surgery, but it does not definitely determine success. There was no statistically significant relationship between the presence of residual epileptiform signs on the ECoG in the cortex adjacent to the removal area and the outcome of surgical treatment for seizures. Patients in follow-up had three times fewer seizures ","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"47 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133770210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-05-18DOI: 10.17650/2073-8803-2022-17-4-63-70
A. Kotov, K. V. Firsov
Mitochondrial dysfunction mainly affects organs with high metabolic demand, primarily the brain. Epilepsy is a common phenotypic sign of both syndromic and non-syndromic mitochondrial diseases. Epilepsy in mitochondrial diseases is poorly treatable and is often an unfavorable prognostic sign. Patients with mitochondrial epilepsy are prescribed various anti-seizure medications. Mitochondriotoxic drugs should be avoided. Descriptions of MELAS-syndrome, MERRF-syndrome, Leigh-syndrome, NARP-syndrome are given.
{"title":"Epilepsy in mitochondrial diseases. Clinical lecture","authors":"A. Kotov, K. V. Firsov","doi":"10.17650/2073-8803-2022-17-4-63-70","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-4-63-70","url":null,"abstract":" Mitochondrial dysfunction mainly affects organs with high metabolic demand, primarily the brain. Epilepsy is a common phenotypic sign of both syndromic and non-syndromic mitochondrial diseases. Epilepsy in mitochondrial diseases is poorly treatable and is often an unfavorable prognostic sign. Patients with mitochondrial epilepsy are prescribed various anti-seizure medications. Mitochondriotoxic drugs should be avoided. Descriptions of MELAS-syndrome, MERRF-syndrome, Leigh-syndrome, NARP-syndrome are given.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"256 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114357456","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-05-18DOI: 10.17650/2073-8803-2022-17-4-8-23
P. L. Sokolov, N. V. Chebanenko, A. G. Prityko, P. Romanov
Background. Currently, more than 500 genes are known, in one degree or another associated with the development of the phenotype of congenital cerebral palsy (CP). The amount of accumulated data requires the sorting of the mechanisms of the influence of genes on brain development.Aim. To compare the spectrum of determinants in groups of patients with CP, accompanied (CP+) and non-accompanied (CP–) by epilepsy.Materials and methods. 154 children with a phenotype of cerebral palsy aged from 1 to 17 years old were investigated. Boys – 92, girls – 62. Genetic mutations were confirmed by the methods of next generation sequencing (NGS) in the study of venous blood samples. Genes with anomalies were distributed to the groups of determinants for the main aspects of the development and function of the brain. A total of 13 groups were created.Results. In the CP– group, determinants of cell dividing, brain development and cytoskeleton were identified in 11 (61.1 %) cases. In 4 (22.2 %) cases, determinants of cell metabolism and external cell membrane transport were identified. In the CP+ group in 23.5 % of cases, determinants of cell division, brain development and cytoskeleton were revealed. The number of patients with anomalies of chromatin modifications, transcription and replication processes was significantly less (4.4 %). In 42 (30.8 %), the CP+ patients found determinants of excitability of the neuronal membrane and excitation transmission. In the cases of brain malformations in both CP– and CP+ groups determinants of cellular division, brain development and cytoskeleton were identified. Interest caused cases of brain malformations with anomalies of genes of the channelopathy.Conclusions. Our data suggests the difference between pathogenetic models CP+ and CP–. The fundamental difference of them is the presence of genes regulating the excitability of the neuronal membrane in CP+ group.
{"title":"Genetic heterogeneity of congenital cerebral palsy and the concept of the neurotropic genome","authors":"P. L. Sokolov, N. V. Chebanenko, A. G. Prityko, P. Romanov","doi":"10.17650/2073-8803-2022-17-4-8-23","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-4-8-23","url":null,"abstract":"Background. Currently, more than 500 genes are known, in one degree or another associated with the development of the phenotype of congenital cerebral palsy (CP). The amount of accumulated data requires the sorting of the mechanisms of the influence of genes on brain development.Aim. To compare the spectrum of determinants in groups of patients with CP, accompanied (CP+) and non-accompanied (CP–) by epilepsy.Materials and methods. 154 children with a phenotype of cerebral palsy aged from 1 to 17 years old were investigated. Boys – 92, girls – 62. Genetic mutations were confirmed by the methods of next generation sequencing (NGS) in the study of venous blood samples. Genes with anomalies were distributed to the groups of determinants for the main aspects of the development and function of the brain. A total of 13 groups were created.Results. In the CP– group, determinants of cell dividing, brain development and cytoskeleton were identified in 11 (61.1 %) cases. In 4 (22.2 %) cases, determinants of cell metabolism and external cell membrane transport were identified. In the CP+ group in 23.5 % of cases, determinants of cell division, brain development and cytoskeleton were revealed. The number of patients with anomalies of chromatin modifications, transcription and replication processes was significantly less (4.4 %). In 42 (30.8 %), the CP+ patients found determinants of excitability of the neuronal membrane and excitation transmission. In the cases of brain malformations in both CP– and CP+ groups determinants of cellular division, brain development and cytoskeleton were identified. Interest caused cases of brain malformations with anomalies of genes of the channelopathy.Conclusions. Our data suggests the difference between pathogenetic models CP+ and CP–. The fundamental difference of them is the presence of genes regulating the excitability of the neuronal membrane in CP+ group.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"1793 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129627348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：