Long-term management of patients with epilepsy. Organization of a service in the Tyumen Region

Epilepsy is a chronic brain disease that requires a long-term or lifelong follow-up of patients. The factors that influence the outcome of therapy are various; moreover, the key factors of them are the organization of care and the mode of patient follow-up. The necessity of optimizing the specialized health care to this category of patients stems from the poorer quality of life in the patients and their families and from the more frequentdevelopment of mental disorders and drug-resistant forms of the disease during ineffective therapy. These and other issues are considered in this paper with emphasis on the specific area – the south of the Tyumen Region. This underlines the importance of setting up not only highlevel epileptologic centers, but also a whole network that provides access to specialized epileptologic care. It seems today that it is more appropriate to solve problems in the organization of management for epileptic patients at the level of an administrative region, for this state structure has all necessary conditions for rapidly and rationally implementing the most successful developments of specialized care to the population

Economic analysis of the effectiveness of complex rehabilitation in children with spastic forms of cerebral palsy with injections of botulinum neurotoxin type A and without it

Purpose. Comparative economic analysis of complex rehabilitation of children with cerebral palsy (CP) with and without injections of botulinum neurotoxin type A (Dysport®, BoNT-A). Materials and methods. We clinically followed up 149 children with spastic forms of cerebral palsy (GMFCS II-IV) – 78 boys and 71 girls in the age period from 2 to 14 years (108 children who received intramuscular BoNT-A injections and 41 children who underwent similar complex treatment without it). In the budget impact analysis (BIA) only direct medical costs were taken: the cost of pharmacotherapy BoNT-A, rehabilitation care and surgery. Results. Children with CP of the main group needed surgical correction for the first time by 10.5±2.8 years, 4.6 % (5 children) of them needed repeated 95 % (39 children) of the comparison group during the period of active growth from 10 to 12 years. As a result, the BIA found that the use of the treatment scheme for children with CP using abobotulinumtoxinA will save the budget of 24 744 690 RUB per 100 children compared to standard therapy for 12 years of observation. During the CEA it was found that to achieve 1 % efficiency in children with CP with the use of abobotulinumtoxin A requires 1 854 426 RUB, and to achieve a similar result without BoNT-A — 40 702 271 RUB. Including abobotulinumtoxinA injections in the comprehensive rehabilitation of children with CP would allow to treat additional 14 % children (compared to a treatment without BoNT-A ) with the same budget. Conclusion. It was found that the use of treatment regimens for children with cerebral palsy using the BoNT-A is economically justified. Long-term therapy of children with CP with Dysport® during a 12-year-follow-up has considerably improved clinical outcomes and could provide a saving of 24 744 690 rubles compared with a standard therapy per 100 patients. Considering the register of children with CP in the Tyumen region on 01 January, 2018, the budget savings could account for 5,938,726 rubles a year

Assessment of the life quality of children with infantile cerebral palsy after surgical treatment

The purpose of the study was to assess the quality of life of children with cerebral palsy depending on the level of the GMFCS scale and the surgical treatment performed from the point of view of patients and their parents.Цель исследования – оценить качество жизни детей с ДЦП в зависимости от уровня шкалы GMFCS и проведенного оперативного лечения с точки зрения пациентов и их родителей

Epilepsy on the background of rare chromosomal abnormalities in childhood

Epilepsy is not an obligate manifestation of the chromosomal abnormalities; however, recent publications highlight a number of chromosomopathy for which present clinical manifestation is very specific. This article presents rare clinical cases of epilepsy in children with identified during the karyotyping of multiple chromosomal abnormalities: a double aneuploidy - trisomy of 21 chromosome, dysomia of the X-chromosome (Down syndrome and Klinefelter syndrome); microdevice of short arm of 4th chromosome (Wolf - Hirschhorn syndrome), associated with microduplication of the plot of the short arm of 5th chromosome.Эпилепсия при хромосомных аномалиях не является облигатным проявлением патологии, однако в публикациях последних лет выделен ряд хромосомопатий для которых данное клиническое проявление весьма специфично. В статье представлены редкие клинические случаи эпилепсии у детей с выявленными при кариотипировании множественными хромосомными аномалиями: двойная анеуплоидия - трисомия по 21 хромосоме, дисомия по Х-хромосоме (синдром Дауна и синдром Клайнфельтера); микроделеция короткого плеча 4 хромосомы (синдром Вольфа - Хиршхорна) в сочетании с микродупликацией участка короткого плеча 5 хромосомы

Genetic comorbidity: clinical case of the combination of epilepsy and myasthenia gravis in children

Epilepsy – polyethylene, highly comorbid pathology, which it can be combined with intractable pathologies. In this case, cause-effect relationships between different diseases can be caused by a random combination, genetic comorbidity or a consequence of each other. In the presented clinical case, genetic epilepsy in a child was combined with youthful myasthenia gravis. This observation of a combination of epilepsy and neuromuscular disease is quite rare, and therefore of interest to clinicians. Dynamic observation, correct tactics of management of the patient allowed to achieve stable medical remission of these diseases.Эпилепсия – полиэтиологическая, высоко коморбидная патология, которая может сочетаться с другими трудно курабельными заболеваниями. При этом причинно-следственные связи между разными болезнями могут быть обусловлены случайным сочетанием, генетической коморбидностью или следствием друг друга. В представленном клиническом наблюдении генетическая эпилепсия у ребенка сочеталась с юношеской миастенией. Данное наблюдение сочетания двух генетических, подтвержденных заболеваний: эпилепсии и нервно-мышечного заболевания – является достаточно редким, в связи с этим представляет интерес для врачей клиницистов. Динамическое наблюдение, правильная тактика ведения пациента позволили добиться стойкой медикаментозной ремиссии обоих заболеваний

Organization of providing service to epileptologlcal patients in Tyumen city and in the South of Tyumen region

Opening of Epiieptologicai Center and interterritorial epileptological rooms will improve the quality and availability of epileptological service to the population of Tyumen and South of the Tyumen region.Открытие эпилептологического центра и межтерриториальных эпилептологических кабинетов улучшит качество и доступность оказания специализированной эпилептологической помощи населению г.Тюмени и юга Тюменской области

Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study

Research on tuberous sclerosis complex (TSC) to date has focused mainly on the physical manifestations of the disease. In contrast, the psychosocial impact of TSC has received far less attention. The aim of this study was therefore to examine the impact of TSC on health, quality of life (QoL), and psychosocial well-being of individuals with TSC and their families. Questionnaires with disease-specific questions on burden of illness (BOI) and validated QoL questionnaires were used. After completion of additional informed consent, we included 143 individuals who participated in the TOSCA (TuberOus SClerosis registry to increase disease Awareness) study. Our results highlighted the substantial burden of TSC on the personal lives of individuals with TSC and their families. Nearly half of the patients experienced negative progress in their education or career due to TSC (42.1%), as well as many of their caregivers (17.6% employed; 58.8% unemployed). Most caregivers (76.5%) indicated that TSC affected family life, and social and working relationships. Further, well-coordinated care was lacking: a smooth transition from pediatric to adult care was mentioned by only 36.8% of adult patients, and financial, social, and psychological support in 21.1, 0, and 7.9%, respectively. In addition, the moderate rates of pain/discomfort (35%) and anxiety/depression (43.4%) reported across all ages and levels of disease demonstrate the high BOI and low QoL in this vulnerable population

Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry

Tuberous Sclerosis Complex (TSC) is a rare autosomal-dominant disorder caused by mutations in the TSC1 or TSC2 genes. Patients with TSC may suffer from a wide range of clinical manifestations; however, the burden of TSC and its impact on healthcare resources needed for its management remain unknown. Besides, the use of resources might vary across countries depending on the country-specific clinical practice. The aim of this paper is to describe the use of TSC-related resources and treatment patterns within the TOSCA registry. A total of 2,214 patients with TSC from 31 countries were enrolled and had a follow-up of up to 5 years. A search was conducted to identify the variables containing both medical and non-medical resource use information within TOSCA. This search was performed both at the level of the core project as well as at the level of the research projects on epilepsy, subependymal giant cell astrocytoma (SEGA), lymphangioleiomyomatosis (LAM), and renal angiomyolipoma (rAML) taking into account the timepoints of the study, age groups, and countries. Data from the quality of life (QoL) research project were analyzed by type of visit and age at enrollment. Treatments varied greatly depending on the clinical manifestation, timepoint in the study, and age groups. GAB Aergics were the most prescribed drugs for epilepsy, and mTOR inhibitors are dramatically replacing surgery in patients with SEGA, despite current recommendations proposing both treatment options. mTOR inhibitors are also becoming common treatments in rAML and LAM patients. Forty-two out of the 143 patients (29.4%) who participated in the QoL research project reported inpatient stays over the last year. Data from non-medical resource use showed the critical impact of TSC on job status and capacity. Disability allowances were more common in children than adults (51.1% vs 38.2%). Psychological counseling, social services and social worker services were needed by <15% of the patients, regardless of age. The long-term nature, together with the variability in its clinical manifestations, makes TSC a complex and resource-demanding disease. The present study shows a comprehensive picture of the resource use implications of TSC

Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project.

BACKGROUND: Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) have unique, individual patterns that pose significant challenges for diagnosis, psycho-education, and intervention planning. A recent study suggested that it may be feasible to use TAND Checklist data and data-driven methods to generate natural TAND clusters. However, the study had a small sample size and data from only two countries. Here, we investigated the replicability of identifying natural TAND clusters from a larger and more diverse sample from the TOSCA study. METHODS: As part of the TOSCA international TSC registry study, this embedded research project collected TAND Checklist data from individuals with TSC. Correlation coefficients were calculated for TAND variables to generate a correlation matrix. Hierarchical cluster and factor analysis methods were used for data reduction and identification of natural TAND clusters. RESULTS: A total of 85 individuals with TSC (female:male, 40:45) from 7 countries were enrolled. Cluster analysis grouped the TAND variables into 6 clusters: a scholastic cluster (reading, writing, spelling, mathematics, visuo-spatial difficulties, disorientation), a hyperactive/impulsive cluster (hyperactivity, impulsivity, self-injurious behavior), a mood/anxiety cluster (anxiety, depressed mood, sleep difficulties, shyness), a neuropsychological cluster (attention/concentration difficulties, memory, attention, dual/multi-tasking, executive skills deficits), a dysregulated behavior cluster (mood swings, aggressive outbursts, temper tantrums), and an autism spectrum disorder (ASD)-like cluster (delayed language, poor eye contact, repetitive behaviors, unusual use of language, inflexibility, difficulties associated with eating). The natural clusters mapped reasonably well onto the six-factor solution generated. Comparison between cluster and factor solutions from this study and the earlier feasibility study showed significant similarity, particularly in cluster solutions. CONCLUSIONS: Results from this TOSCA research project in an independent international data set showed that the combination of cluster analysis and factor analysis may be able to identify clinically meaningful natural TAND clusters. Findings were remarkably similar to those identified in the earlier feasibility study, supporting the potential robustness of these natural TAND clusters. Further steps should include examination of larger samples, investigation of internal consistency, and evaluation of the robustness of the proposed natural clusters

Многоуровневые инъекции ботулинического токсина типа А (Абоботулотоксина) при лечении спастических форм детского церебрального паралича: ретроспективное исследование опыта 8 российских центров

Background: The contemporary application of Botulinum toxin A (BTA) in cerebral palsy (CP) implies multilevel injections both in on-label and off-label muscles. However, there is no single international opinion on the effective and safe dosages, target muscles, and intervals between the injections.Objective: Our aim was to analyze the Russian multicenter independent experience of single and repeated multilevel injections of Abobotulinum toxin А in patients with spastic forms of CP.Methods: 8 independent referral CP-centers (10 hospitals) in different regions of Russia. Authors evaluated intervals between the injections, dosages of the BTA for the whole procedure, for the body mass, for the each muscle, and functional segment of the extremities.Results: 1872 protocols of effective BTA injections (1–14 repeated injections) for 724 patients with spastic CP were included. The age of the patients was between 8 months to 17 years 4 months at the beginning of the treatment (with a mean of 3 years 10 months). Multilevel BTA injections were indicated for the majority (n = 634, 87.6%) of the patients in all the centers. The medians of the dosages for the first BTA injection were between 30–31 U/kg (500 U), the repeated injections doses up to 45 U/kg (1000 U) (in most centers). The median intervals between the repeated injections were 180–200 days in 484 (66.9%) patients and 140–180 days in 157 (24.7%) patients. In 2 centers, children with GMFCS IV–V were injected more often than others.Conclusion: Multilevel BTA injections were indicated for the most patients. The initial dose of Abobotulinum toxin A was 30–31 U/kg. The repeated injections dose could increase up to 40 U/kg. The repeated injections were done in 140–200 days after the previous injection.Современная концепция ботулинотерапии при детском церебральном параличе (ДЦП) предлагает использование многоуровневых инъекций в расширенное число мышц. Однако по-прежнему отсутствует консенсус относительно выбора оптимальных доз, мышц и интервалов между инъекциями.Цель исследования: изучить российский опыт применения однократных и повторных многоуровневых инъекций абоботулотоксина при лечении спастичности у пациентов с ДЦП.Методы: в ретроспективном исследовании проанализирован опыт ботулинотерапии при ДЦПв 8 специализированных центрах России. Изучали протоколы клинически эффективных инъекций. Оценивали общие дозы препарата БТА, дозы на единицу массы тела пациентов, на всю инъекционную сессию и отдельные мышцы, а также интервалы между инъекциями.Результаты: изучено 1872 протокола клинически эффективных инъекций, всего от 1 до 14 повторных инъекций, сделанных 724 пациентам в возрасте от 8 мес до 17 лет 4 мес (медиана возраста на момент первой инъекции БТА — 3 года 10 мес) на момент начала ботулинотерапии. Большинство пациентов (n = 634; 87,6% инъекций) получили многоуровневую ботулинотерапию. Во всех центрах при первичных инъекциях БТА медиана доз находилась в пределах 30–31 Ед/кг массы тела (общая — 500 Ед). При повторных инъекциях в большинстве учреждений максимальные дозы превышали 45 Ед/кг (1000 Ед). Средние интервалы между повторными инъекциями колебались в пределах 140–180 сут для 157 (24,7%) и 180–200 сут для 484 (66,9%) пациентов. В 2 из 8 центров пациенты с наиболее выраженными двигательными нарушениями (GMFCS IV–V) требовали более частых повторных инъекций БТА.Заключение: в специализированных центрах большинству пациентов с ДЦП ботулинотерапию проводили по многоуровневой схеме. Общая доза абоботулотоксина при первичных инъекциях составляла 30–31 Ед/кг; при повторных инъекциях она могла быть увеличена до 40 Ед/кг и более. Вопрос о повторном проведении инъекции БТА рассматривался в интервале 140–200 сут после предшествующей инъекции