Russian Journal of Child Neurology最新文献

{"title":"Jacobsen syndrome. Literature review and a case report","authors":"A. V. Syrkina, N. V. Chebanenko, V. Zykov, N. S. Mikhailova","doi":"10.17650/2073-8803-2022-17-2-55-60","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-2-55-60","url":null,"abstract":"The article presents a literature review of chromosomal deletion syndrome – terminal deletion of the long arm of chromosome 11, Jacobsen syndrome, manifested by skeletal abnormalities, congenital heart defects, developmental delay, autism. The disease is of clinical interest in connection with a specific phenotype and life-threatening, but potentially curable conditions: bleeding and immunodeficiency. The analysis of informationally significant genes of the chromosome 11 deletion site is presented. A case report of a girl with Jacobsen syndrome with a follow-up history of up to 6 years is presented. In the observed case, previously unremarked symptoms were described: ataxia and retropulsion. The differential diagnosis and criteria for hypomyelination syndrome are also analyzed. Recommendations are given for the management of life-threatening conditions in patients in accordance with American protocols.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"13 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128525854","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}

{"title":"Therapy with Cogitum in children with speech disorders","authors":"M. Bobylova","doi":"10.17650/2073-8803-2022-17-2-30-36","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-2-30-36","url":null,"abstract":"Developmental dysphasia is a speech disorder with normal hearing and intelligence, which develops against the background of organic brain damage in the period up to 3 years of life. In addition to speech disorders in dysphasia, motor and coordinator, sensory (disturbances in sensitivity and perception), and psychopathological manifestations can be noted. Diagnosis of speech disorders is very difficult, requires the exclusion of hearing loss and mental illness. After a successful diagnosis, speech therapy correction, behavioral therapy and developmental sessions with a psychologist are necessary. In some cases, neurotrophic drugs are prescribed. This article analyzes our own data on the use of the drug “Cogitum” in 140 children in comparison with the control group (n = 40), who had the same classes as in the main group, but without the use of Cogitum. Improvement in group 1 was shown.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"105 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134481086","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}

{"title":"Analysis of the regression of transient neurological symptoms in newborns during physiological childbirth","authors":"A. V. Petrova, E. Morozova, A. Khasanov","doi":"10.17650/2073-8803-2022-17-2-21-29","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-2-21-29","url":null,"abstract":"The authors of the article substantiate the high significance and prognostic value of transient neurological symptoms in newborns. The study showed a greater variety and a lower rate of symptoms regression in the part of neurological disorders during physiological childbirth in the second position of the fetus. There are data on a higher frequency of some variants of torticollis in the second position of the fetus, cephalohematoma during childbirth in the second position was also significantly more often found. The findings are important for the prevention of neurological disorders and revision of some aspects of obstetric tactics.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"3 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126145543","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}

{"title":"The first combined Russian experience of using perampanel in children and adolescents with epilepsy in everyday clinical practice","authors":"O. Rakhmanina, I. Volkov, O. Volkova, Yu.  A. Aleksandrov, M. V. Barkhatov, I. S. Bakhtin, G.  M. Berezhnaya, S. R. Boldyreva, E.  N. Bochkova, E.  . Gorbunova, A. Karas, D. Morozov, S.  . Nurmukhametova, N. Y. Perunova, S. Sivkova, E. Telegina, T. Tomenko, Zhuzhuna M. Tsotsonava","doi":"10.17650/2073-8803-2022-17-2-8-20","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-2-8-20","url":null,"abstract":"Background. Real world data help to provide more information on the effects and tolerability of therapy. However, data on the use of perampanel in Russian population of children remain limited.Aim. To conduct a retrospective analysis of perampanel efficacy and tolerability in children and adolescents with epilepsy in real clinical practice.Materials and methods. A total of 106 children aged 4–18 years receiving perampanel as part of combination therapy for epilepsy were observed at 18 centers. Seizure frequency at 1–3, after 6 and 12 months of treatment, presence and type of adverse events (AEs) were analyzed. The main assessed efficacy parameters were seizure control, significant (≥50 %) decrease in seizure frequency. All other outcomes (<50 % decrease, no change or increased seizure frequency) were considered to be no effect. The assessed safety parameters were the percentage of patients with or without AEs and the percentage of perampanel withdrawals due to AEs.Results. We defined 3 age groups for comparison: children 4–6, 7–11 and 12–17 years old. Perampanel efficacy was 69 % (seizure control – 23.6 %, ≥50 % decrease in seizure frequency – 45.3 %). The mean duration of the effect was 7.3 ± 4.1 months. No significant difference in efficacy between age groups was found. However, some greater efficacy of perampanel was noted in adolescents: absence of effect in the form of remission or significant decrease in seizures frequency was noted only in 25.5 %, with 40 % in children 4–11 years old. Among those with inefficacy, 3.8 % reported seizure aggravation. AEs occurred in only 23 % of patients, with the least frequent occurrence in adolescents (11.8 %) and the most frequent in children aged 7–11 years (40 %). The most frequent AEs was sluggishness and/or drowsiness. Discontinuation of perampanel due to AEs was required in 7.6 %.Conclusion. Perampanel has demonstrated high efficacy and good tolerability in real clinical practice among children from 4 years of age and adolescents with partial (focal) and secondary generalized seizures. The AEs that developed were not serious and very rarely led to withdrawal of the therapy. The results are comparable to those of phase III studies and previous real-world data. The usage of perampanel in children with primary generalized seizures should be further investigated.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"14 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127248572","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}

{"title":"Classification and definition of epilepsy. Position paper by the International League Against Epilepsy on Nosology and Definitions of Epilepsy Syndromes dated 2021","authors":"K. Mukhin, O. Pylaeva, V. S. Kakaulina, M. Bobylova","doi":"10.17650/2073-8803-2022-17-1-6-95","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-1-6-95","url":null,"abstract":"This article presents updated and revised diagnostic criteria for epilepsy syndromes proposed in 2021 by the Nosology and Definitions Taskforce of the International League Against Epilepsy (ILAE). The current classification of epilepsy syndromes was developed in 1989. The new ILAE Classification and Definition of Epilepsy Syndromes is a result of huge work of many experts from all over the world. The draft of the new classification is presented on the ILAE website for wide discussion. It includes 4 main sections: 1) classification and definition of epilepsy syndrome with onset in neonates and infants; 2) classification and definition of epilepsy syndromes with onset in childhood; 3) classification and definition of epilepsy syndromes with onset at a variable age; 4) definition of the idiopathic generalized epilepsy syndromes. Each section is based on a thorough analysis of literature and clinical experience of experts. Its main purpose is to identify epilepsy syndromes using the 2017 ILAE classification of epilepsy forms and types of epileptic seizures, as well as to identify specific characteristics of each syndrome to improve clinical diagnosis. For each syndrome, the document provides the details on its epidemiology, clinical manifestations, types of seizures, electroencephalographic features, neuroimaging signs, genetic examination, as well as differential diagnosis with other epilepsy syndromes and various non-epileptic conditions. It introduces mandatory criteria that must be present in order to diagnose the syndrome and alert criteria that are absent in the vast majority of cases within a syndrome, but rarely can be seen. Particular attention is paid to exclusionary criteria that must be absent in order to diagnose the syndrome. When developing the criteria for each epilepsy syndrome, the ILAE Task Force used the latest literature data, including Internet resources and the opinion of experts in this area. The international classification should be applied by specialists from all over the world. It should contain clear and easy-to-understand definitions; the language should be simple and understandable. The new ILAE classification demonstrates revised definitions of well-known electroclinical epilepsy syndromes and proposes a new concept of defining epilepsy syndromes by their etiology (including those syndromes in which pathogenic mutations or structural changes correlate significantly with certain electroclinical phenotype). It also introduces a new etiology-defined class of epilepsy syndromes characterized by specific genetic, metabolic, and structural causes. The document does not cover therapy for epilepsy syndromes; however, for some of them, it specifies the most effective or potentially aggravating antiepileptic drugs. The prospect of further targeted gene therapies development and approval of antiepileptic drugs specific for certain epilepsy syndromes after randomized clinical trials had served as a powerful motivation to introduce","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"35 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123177197","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}

{"title":"Effectiveness and tolerability of perampanel in сhildren and adolescents (own experience of Svt. Luka’s Institute of Child Neurology and Epilepsy)","authors":"K. Mukhin, O. Pylaeva, M. Bobylova","doi":"10.17650/2073-8803-2021-16-4-8-30","DOIUrl":"https://doi.org/10.17650/2073-8803-2021-16-4-8-30","url":null,"abstract":"","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"49 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128586435","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}

{"title":"Electroencephalography and analysis of functional brain activity","authors":"S. Gulyaev","doi":"10.17650/2073-8803-2021-16-4-59-68","DOIUrl":"https://doi.org/10.17650/2073-8803-2021-16-4-59-68","url":null,"abstract":"Электроэнцефалография (ЭЭГ) дает исследователю возможность анализировать и фиксировать быстропротекающие физиологические процессы в корковых структурах головного мозга, что в настоящий момент практически недоступно для большинства методов функциональных исследований мозга. Однако в технологии клинической ЭЭГ наблюдается определенная стагнация, требующая изменений методологических и технических подходов к реализации ЭЭГ. Целью нашей работы является представление современных возможностей ЭЭГ и ее места в современной медицинской диагностике. В настоящее время подавляющее большинство аппаратных комплексов ЭЭГ включают 8–32 отдельных каналов записи и используют расположение активных электродов на скальпе по системе «10–20». В результате происходит утрата большого объема информации, и исследования ограничиваются исключительно регистрацией отдельных биоэлектрических феноменов, что не позволяет использовать данные ЭЭГ совместно с нейровизуализационными обследованиями с достаточной для последних разрешающей способностью. Решением данной проблемы является использование систем ЭЭГ высокой плотности записи, включающих большое количество первичных электроэнцефалографических сенсоров (128 и более), которые позволяют минимизировать информационные потери первичного этапа. Однако такие системы требуют кардинально иного подхода к технике анализа записей ЭЭГ. Присутствие большего в сравнении с классическими системами объема информации вынуждает применять различные методы математического анализа получаемого сигнала, а также шире использовать методики объединения с информацией иных диагностических методов, прежде всего магнитно-резонансной томографии и функциональной магнитно-резонансной томографии, но в результате это открывает для ученых новые перспективы исследования биоэлектрической активности головного мозга человека.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"7 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124218683","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}

{"title":"Electroencephalographic localization of pathological activity areas in dynamics in patients with benign age-dependent focal epilepsy","authors":"O. Belyaev, A. V. Stakhovskaya, N. Rezvan","doi":"10.17650/2073-8803-2021-16-4-31-41","DOIUrl":"https://doi.org/10.17650/2073-8803-2021-16-4-31-41","url":null,"abstract":"Генетическая фокальная возрастзависимая эпилепсия составляет 25 % среди всех форм у детей с афебрильными приступами и является генетически-детерминированной локализационно-обусловленной формой. Основным паттерном межприступной патологической активности являются доброкачественные эпилептиформные разряды детского возраста в центрально-височных отведениях при роландической форме и с локализацией в задневисочнотеменно-затылочных отведениях при затылочной форме. С целью оценки электроэнцефалографической локализации зон патологической активности в динамике при доброкачественных возрастзависимых локализационно-обусловленных формах эпилепсии нами было проведено наблюдение в течение года за 72 пациентами в возрасте от 6 мес до 10 лет. Наблюдение показало, что независимо от пола и возраста пациента, получаемой терапии электроэнцефалографически регистрируется разнообразие локализации зон патологической активности как в дебюте заболевания, так и через год наблюдения, а также миграция данной активности.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"21 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115338767","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}

{"title":"Diagnosis and treatment of brain compression in children with hemostasis disorders","authors":"M. L. Lagunavichene, S. Larionov, Yu.  A. Aleksandrov, A. V. Livadarov, P. G. Gruzin, A. Rudakova, E. G. Osipova","doi":"10.17650/2073-8803-2021-16-4-42-48","DOIUrl":"https://doi.org/10.17650/2073-8803-2021-16-4-42-48","url":null,"abstract":"М.Л. Лагунавичене1, С.Н. Ларионов1, Ю.А. Александров1, А.В. Ливадаров1, П.Г. Грузин1, А.В.Рудакова1, Е.Г. Осипова2 1Нейрохирургическое отделение ОГАУЗ «Городская Ивано-Матренинская детская клиническая больница»; Россия, 664007 Иркутск, ул. Советская, 57; 2отделение патологии и недоношенных детей ОГАУЗ «Городская Ивано-Матренинская детская клиническая больница»; Россия, 664007 Иркутск, ул. Советская, 57","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"175 3 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121123939","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}

{"title":"West syndrome in patients with Kabuki syndrome (literature review and case report)","authors":"M. Zhitomirskaya, E. Snegova, G. Odintsova","doi":"10.17650/2073-8803-2021-16-4-69-76","DOIUrl":"https://doi.org/10.17650/2073-8803-2021-16-4-69-76","url":null,"abstract":"М.Л. Житомирская1, 2, Е.В. Снегова1, Г.В. Одинцова3 1ГУЗ «Консультативно-диагностический центр для детей»; Россия, 192289 Санкт-Петербург, ул. Олеко Дундича, 36, корп. 2; 2ФГБОУ ВПО «Северо-Западный государственный медицинский университет им. И.И. Мечникова»; Россия, 191104 Санкт-Петербург, ул. Дундича, 36, корп. 2; 3Российский научно-исследовательский нейрохирургический институт им. проф. А.Л. Поленова – филиал ФГБУ «Национальный медицинский исследовательский центр им. В.А. Алмазова» Минздрава России; Россия, 191014 Санкт-Петербург, ул. Маяковского, 12","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"36 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131594978","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}