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We present the clinical case of patient with epilepsy, developmental retardation and hearing loss. The whole exome sequencing allowed to reveal compound heterozygous variants of the nucleotide sequence in SPATA5 gene (c.1714+1G>A, c.1678G>A). Mutations in the SPATA5 gene have been described in patients with epilepsy, hearing loss and mental retardation syndrome (MIM 616577). Paired parents were carriers of one heterozygous gene variant. Such mutations lead to the development of epileptic disorders in 3% of cases, and should be considered in patients not only as a possible cause of neurodegenerative diseases, but also leading to pathology with clinical manifestations mimicking mitochondrial disease.

Introduction. Late and inaccurate diagnosis of tension-type headache (TTH) leads to the lack of timely rational treatment. In children and adolescents with TTH, the role of comorbid disorders that affect the course of TTH and can contribute to their chronification is not sufficiently taken into account. Meanwhile, with timely diagnosis and adequate treatment of TTH in many children and adolescents, a significant improvement in the disease’s course and the prognosis is achieved, and clinical remission is possible. Considering the high prevalence of TTH among children and adolescents, the decline in their quality of life, and the high frequency of comorbid disorders, it is reasonable to develop effective methods of preventive treatment for TTH in this age group. The aim of the study was to evaluate the effectiveness of monotherapy with γ-amino-β-phenyl butyric acid hydrochloride, amitriptyline, or breathing gymnastics (comparison group) indicated for two months as a preventive treatment of TTH in children and adolescents in the open randomized comparative study in three parallel groups of patients. Material and methods. In an open parallel study, 90 TTH patients aged 8-16 years were divided into three groups of 30 patients (each with 15 boys and 15 girls). Results. Significant differences with the comparison group in the individual response to therapy were confirmed. According to the criterion of a 50% or more reduction in the average number of headache attacks per month in group 1 (γ-amino-β-phenyl butyric acid hydrochloride), the improvement was achieved in 56.7% of patients, in group 2 (amitriptyline) - in 73.3%, in the 3rd group (breathing gymnastics) - in 30%. According to a more strict criterion for reducing the average number of headache attacks per month by 75% or more, the response to therapy was observed in group 1 in 30%. In group 2 - in 23.3%, in group 3 - in 3.3% of patients. In groups 1 and 2, along with a significant decrease in the frequency, duration, and intensity of TTH attacks, a significant improvement in daily activity, a favorable effect on the manifestations of fatigue, anxiety disorders, and sleep disorders associated with TTH was demonstrated. The therapeutic efficacy of breathing gymnastics exercises complex was confirmed in the prevention of TTH with frequency, duration, and intensity reduction of TTH, and diminishing its impact on daily activity, a moderate decrease in manifestations of fatigue, anxiety disorders (by patients’ self-assessment), and improvement in sleep quality.

Merosin-deficient muscular dystrophy is the most common form of congenital muscular dystrophies (СMD), characterized by genetic heterogeneity and a severe course in most cases. CMD pathogenesis is associated with a partial or complete absence of laminin 2 chains in the basal membrane of muscle fiber caused by a mutation in theLAMA2gene. The clinical manifestations of LAMA2-associated muscular dystrophy vary from severe СMD (СMD 1A) with an early onset to a relatively mild course with a late onset and phenotype of limb-girdle muscular dystrophy. CMD type 1A is characterized by a delay in motor development from the first months of the life (while the vast majority of children do not master the ability to walk independently), facial muscles weakness, ptosis, ophthalmoplegia, spine rigidity, early occurrence of contractures in the shoulder, elbow, hip and knee joints, restrictive respiratory disorders, nutritional problems, such as disorders of swallowing and chewing, gastroesophageal reflux, low body weight; some children suffer from mental retardation and epilepsy.

Objectives. To study the clinical and electroencephalographic characteristics of early infantile epileptic encephalopathy (EIEE) type 14, due to mutations in the KCNT1 gene. Materials and methods. Over the period 2017–2019, three unrelated girls (M.V. aged three years three months, T.V. aged nine months, and M.U. aged five months) with the clinical picture of infantile epilepsy with migrating focal seizures (IEMFS) were investigated and mutations in the KCNT1 gene were identified. New-generation DNA sequencing (Inherited Epilepsy panel) was run on an Illumina NextSeq 500 platform (USA). Video EEG monitoring was with an Encephalan Video system based on an Encephalan-RM RM-EEG-19/26 instrument (Medikom MTD, Russia). Results and conclusions. M.V. showed a previously undescribed mutation in exon 12 of the KCNT1 gene (chr9:138656907C>T) with amino acid substitution Arg356Trp. T.V. had a known mutation in chromosome 9, 138651532G>A with amino acid substitution of glycine by serine as position 288, i.e., Gly288Ser (OMIM: 608167.0010). M.U. showed a previously undescribed heterozygous mutation in exon 15 of the KCTN1 gene (chr9:138660712A>G), leading to an amino acid substitution in position 480 (Asp480Gly). In M.V., the onset of EIEE was at age four months with hypomotor dialeptic and tonic versive seizures. Epilepsy in T.V. started at age 4.5 months with hypomotor seizures with ophthalmoclonia and facial hyperemia. In M.V., neonatal convulsions were seen with bilateral tonic-clinic seizures and cyanosis, and subsequent development of status epilepticus with alternating hemiconvulsions. All girls went on to develop seizures of multiregional genesis to the level of migrating status epilepticus with the typical electroclinical picture of IEMFS. Thus, these findings lead to the conclusion that the KCNT1 gene may be the main gene determining the development of EIEE.

Tuberous sclerosis is one of the genetically determined neurodermal syndromes, characterized by focal epilepsy, which is resistant to drug therapy in most cases. Tuberous sclerosis has not been surgically treated for a long time due to the multifocal nature of brain damage. However, using new instrumental methods the surgeon can isolate tuber – “drivers”, responsible for epileptic induction, which, therefore, can be a target for surgical removal. The article presents a clinical case of the treatment of pharmacoresistant epilepsy in a 17-year-old girl with tuberous sclerosis and normal neuropsychiatric and cognitive status; the surgeon managed to achieve a complete regression of seizures after the surgical removal of one of the tubers. Using a multimodal complex of examinations, including high-resolution magnetic resonance imaging and invasive electroencephalographic monitoring, the surgeon managed to identify the “inductor” tuber associated with the epileptic initiation zone among multiple cortical tubers. This section of the cerebral cortex was subjected to surgical resection. For the entire postoperative period (16 months) there were no seizures and antiepileptic drugs were canceled; cognitive processes, memory were improved. Thus, active surgical tactics may be effective in more than 50% of patients with tuberous sclerosis and pharmacoresistant epilepsy. This case confirms the need for a multidisciplinary examination prior to the surgery in patients with tuberous sclerosis.

Objective: to analyse the clinical and neurophysiological data from a case of early infantile epileptic encephalopathy type 16 in a child with homozygous mutation in TBC1D24 gene. Material and methods . Female child M. aged 1 year and 2 months, with identified mutations in TBC1D24 gene was examined. The whole exome sequencing was performed (Next Generation Sequencing with the Illumina HiSeq 1500 platform, USA). Dynamic video-EEG monitoring was conducted with a “Encephalan-Video” RM-19/26 instrument (“Medicom MTD”, Russia). Results . According to the patient history, on the 22nd day of life, the child developed vocalisms with tonic tension of the limbs. At her 2 months of life, focal myoclonia and myoclono-clonies were noted; at her 4 months – return of tonic seizures with vocalisms followed by eyelid myoclonus, perioral myoclonus, ophthalmoclonia, alternating hemiconvulsions and tonic-clonic seizures. The family history of epilepsy was negative; the parents denied any consanguinity, but admitted a chance of being distant relatives. Neurological examination revealed hypotonic-astatic syndrome and psycho-motor retardation. A video EEG monitoring test detected multiple EEG negative multifocal myoclonic episodes in combination with dystonic hyperkinesia and motor automatism. Although typical epileptiform spike-wave discharges were rare, a focus of low-index spike-wave complexes was identified in the left temporal zone. Therapy with valproates, barbiturates and levetiracetam did not produce any significant effect but benzodiazepines (clonazepam) caused a moderate improvement; a switch to clobazam therapy was then recommended. This case of inherited developmental and epileptic encephalopathy was defined as early infantile epileptic encephalopathy type 16 (OMIM#615338) with autosomal recessive inheritance associated with a previously not described homozygous mutation of the TBC1D24 gene, chr:16:2546775 A>C that caused Tyr209Ser amino acid substitution. Pre-conception testing of the TBC1D24 gene under the IVF condition is recommended to the parents. Discussion . Since 2010, a few variants of early infantile epileptic encephalopathy type 16 caused by homozygous mutation of the TBC1D24 gene have been described in the literature. This clinical case is closer to progressive myoclonic epilepsy with dystonia (PMED), which indicates the nosological autonomy of this form of epilepsy. С onclusion . Children with pharmacoresistant epilepsy and epileptic encephalopathies, as well as those with unusual course of these diseases need genetic assessment with the new generation exom sequencing techniques – such as the “hereditary epilepsy” panel, as well as clinical and full-exom sequencing. All authors contributed equally to this publication.

Objective . Study the clinical and neurophysiological evolution of early infantile epileptic encephalopathy type 4 (EIEE4) caused by a STXBP1 gene mutation. Material and methods. During 2016-2019, we conducted dynamic observation and treatment of a girl with EIEE4 combined with a mutation in the STXBP1 gene. DNA sequencing was performed using the "Hereditary epilepsies" panel (Next Generation Sequencing on the platform of Illumina HiSeq 2500, USA). Dynamic video-EEG monitoring was performed with an “Encephalan-Video" RM-19/26 ("Medicom MTD“, Russia). Results. In this 3.5 y.o. patient with infantile epileptic encephalopathy, a heterozygous autosomal dominant de novo mutation in the STXBP1 gene was found. This mutation (not described previously) is located in chromosome 9, specifically, in the 20th exon with genome coordinates Chr9:130453 (C.*96T>A). This child suffered from severe neonatal hypoxic-ischemic encephalopathy, which led to spastic cerebral palsy. In addition, she developed seizures as early as at the age of 6 month; the seizures (flexor tonic spasms) were paralleled with EEG changes similar to the Mar-kand-Blume-Ohtahara syndrome, namely, multiple independent spike-wave foci in combination with the partial attenuation pattern (kind of the "burst-suppression" pattern). Valproate monotherapy had little effect, and hormonal treatment caused a temporary improvement. Permanent clinical remission with no seizures was achieved by including leveti-racetam in the therapeutic combination. A number of studies demonstrated a high efficacy of levetiracetam in cases of STXBP1 gene mutations. At the age of 2,5years, the girl demonstrated changes in her EEG records toward the continuous spike-wave during sleep (CSWS) pattern with the morphology of "benign epileptiform discharges of childhood" ("BEDC"). Conclusions. In spite of the aggravated perinatal anamnesis, children with epileptic encephalopathy need genetic examination using the Next Generation Sequencing (NGS) methods (such as "Hereditary epilepsies" panel), combined with full exome sequencing. Such genetic examinations are helpful for establishing the exact etiology of epilepsy and developing a personalized approach to antiepileptic therapy.

Consequences of traumatic brain injury (TBI) in children and adolescents pose a major medical and social problem, as TBI interferes with neuro ontogenesis. Among these consequences, paroxysmal disorders that manifest in the long-term after TBI represent an important issue. These disorders include posttraumatic headaches, posttraumatic epilepsy and subclinical epileptiform EEG activity. In this review, clinical manifestations, pathophysiology and management of the long-term post-TBI paroxysmal disorders in children and adolescents are discussed.

To study the therapeutic efficacy of two treatment modes of peptidergic nootropic medication cortexin in children with developmental dysphasia aged 3-4 years.Ninety-four children with developmental dysphasia were divided into three groups. In group 1 (27 patients), cortexin was administered once a day intramuscularly for 10 days. After this course, the children were not prescribed drug therapy, a second examination was carried out 2 months after the start of treatment. In group 2 (40 patients), two courses of cortexin were administered at 1-month intervals, and the children were also followed up for two months. Control group 3 (27 patients) did not receive medication, but was also followed up for two months. All the parents were provided with recommendations for the stimulation of speech development in children. Before the study and two months later, speech development was assessed with special scales and questionnaires for parents.The increase ratio of the active vocabulary volume by 2 times or more was observed in group 2 (two courses of cortexin treatment) in 80.0% of patients (significant differences with groups 1 and 3,The results of the study confirm the higher effectiveness of two courses of the peptidergic nootropic medication cortexin in the pharmacotherapy of developmental dysphasia in children, aged 3-4 years, conducted over two months, compared with the indication of one treatment course.Оценить терапевтическую эффективность двух режимов терапии пептидергическим ноотропным препаратом Кортексин при дисфазии развития у детей в возрасте 3—4 лет.Обследованы 94 ребенка с дисфазией, распределенных на три группы. В 1-й группе (27 пациентов) проводился курс лечения Кортексином: 1 раз в сутки внутримышечно ежедневно в течение 10 дней. После этого курса детям не назначалась лекарственная терапия, повторное обследование осуществлялось через 2 мес от начала курса Кортексина. Во 2-й группе (40 пациентов) проведено два курса Кортексина с интервалом 1 мес, дети также наблюдались в течение 2 мес. Третья группа сравнения (27 пациентов) не получала медикаментозной терапии, но также наблюдалась в динамике в течение 2 мес. Родители всех пациентов получали рекомендации по стимуляции речевого развития у детей. Перед началом лечения и через 2 мес оценивали состояние речи детей по шкалам речевого развития и специальным опросникам для родителей.Кратность увеличения объема активного словаря в 2 раза и более отмечена во 2-й группе (2 курса лечения Кортексином) у 80,0% пациентов (значимые различия с 1-й и 3-й группами

The number of COVID-19 patients is increasing worldwide and the number of patients with neurological manifestations of a new coronavirus infection is increasing as well. Pathognomonic for COVID-19 is the presence of cephalgic syndrome, infectious-toxic encephalopathy, hypo- and anosmia and ageusia. Inducing of pathological autoimmune response contributes to the development of Miller Fischer and Guillain-Barré syndrome. Hyperergic reaction with the generation of the so-called «cytokine storm» provokes multisystem hemorrhagic complications such as Kawasaki disease and acute necrotizing hemorrhagic encephalopathy. There is also a special form of COVID-19-associated stroke. Almost all post-COVID-19 patients complain of severe fatigue, emotional lability, and sometimes have features of asthenic-neurotic, anxiety-phobic disorders and apato-abulic syndromes, which require rehabilitation measures, as well as courses of restorative neurotrophic and nootropic therapy.Во всем мире нарастает число пациентов с COVID-19, среди которых больные с неврологическими проявлениями новой коронавирусной инфекции. Увеличивается и количество верифицированных педиатрических случаев с неврологическими осложениями. Патогномоничным для COVID-19 является наличие цефалгического синдрома, инфекционно-токсической энцефалопатии, гипо- и аносмии и агевзии. Индуцирование патологического аутоиммунного ответа способствует развитию синдромов Миллера Фишера и Гийена—Барре. Гиперергическая реакция организма с развитием так называемого цитокинового шторма провоцирует мультисистемные геморрагические осложнения по типу болезни Кавасаки и острой некротизирующей геморрагической энцефалопатии. Выделяют также особую форму COVID-19-связанную с инсультом. Практически все пациенты, перенесшие COVID-19, жалуются на выраженную астенизацию, эмоциональную лабильность, а также порой имеют черты астеноневротического, тревожно-фобического расстройств и апатико-абулического синдрома, что требует реабилитационных мероприятий, а также курсов восстановительной нейротрофической и ноотропной терапии.

Aim:To determine main etiologies and clinical features of neonatal seizures (NS) in groups of newborns of different gestational age (GA).Materials and Methods. Main etiologies of NS were evaluated in 165 newborns divided into four groups: I – 84 early preterm newborns with GA of 28 weeks or less, II – 52 newborns with 29-32 weeks GA, III – 12 newborns with 33-36 weeks GA, and IV – 17 term infants with GA between 37 and 41 wks.Results. In the above 165 infants, the following causes of NS were found: perinatal hypoxia-ischemia – 72.1% of cases, grade III-IV intracranial hemorrhage – 6.1%, congenital infections in 9.7%, CNS infections (bacterial meningitis and viral meningoencephalitis) – 9.7%, сerebral dysgenesis – 1.2%, and inborn errors of metabolism and neurodegenerative diseases accounted for 1.2%. Intracranial hemorrhage (grade III-IV) was detected in newborns with GA less than 32 wks only. The etiological role of CNS infections was higher in term newborns (23.5%) than in the other groups.Conclusion.In examining newborns with NS, genetic mechanisms should be taken into consideration, especially when no indications of early brain damage are apparent. This approach is important today as targeted therapies of gene-associated epileptic syndromes are becoming feasible. In the present article, the use of levetiracetam in infants with NS and early onset epilepsy is discussed.

Electrical status epilepticus during slow-wave sleep (ESES) is an EEG pattern of continuous (85-100%) diffuse epileptiform activity in the sleep EEG. The morphology of the epileptiform complexes is identical to benign epileptiform discharges of childhood (BEDC). Epilepsy with ESES (or “Penelope Syndrome”) is a form of age-dependent epileptic encephalopathies with the phenomenon of continuous spike-waves during slow wave sleep. This group of epilepsies also includes Pseudo-Lennox syndrome, Landau-Kleffner syndrome, autistic epileptiform regression and some others. In most cases, the ESES pattern correlates with the severity of cognitive deficit in this population of epileptic children. The aim of this study was to evaluate the efficacy and safety of levetiracetam in children with the ESES pattern in the EEG. Materials and Methods. During the period of 2010-2016, 34 epileptic children with ESES patterns in the EEG (14 boys and 20 girls) treated with levetiracetam (33 in combined and 1 in monotherapy) were studied. Results. Twenty eight of the patients with ESES patterns in the sleep EEG were diagnosed with the ESES form of epilepsy. Among them, 7 idiopathic, 13 symptomatic, and 8 “symptomatic” cases of ESES (the latter resulted from “double pathology” of idiopathic + hypoxic-ischemic factors and these children had cerebral palsy). Among other ESES patients, 3 cases were of Pseudo-Lennox syndrome, 2 cases of Landau-Kleffner syndrome and one girl with autistic epileptiform regression. All 28 children received levetiracetam at therapeutic doses of 20-80 mg/kg/daily. Levetiracetam was highly effective in 67.6% of patients (n=23); of those, 2 children showed full clinical and electroencephalographic remission before reaching puberty, 9 children had clinical remission and 12 children had a significant decrease in seizures and epileptiform discharges. A low efficacy of levetiracetam was seen in 20.6% (n=7) of patients. Disease aggravation (seizures and epileptiform discharges) was found in 11.8% (n=4) of patients. Other negative effects were observed in only 4 (11.8%) children (3 cases of agitation and sleep disturbance and one case of allergic rash). In conclusion, levetiracetam is a highly effective medication (67.6% of cases) in combined antiepileptic therapy in children with ESES. However, the risk of exacerbation was as high as 11.8%. The most effective combinations of levetiracetam were those with valproates and ethosuximide.

Childhood absence epilepsy (CAE) is an idiopathic generalized epilepsy, which could be attributed to genetic forms according to the latest proposals of the Commission on Classification and Terminology of the International League Against Epilepsy (2016). CAE has specific clinical and encephalographic characteristics. Data regarding cognitive impairment in children with CAE is still controversial. There are some attempts to introduce more strict diagnostic criteria to be able to define the disease course and prognosis of this form of epilepsy. These are the criteria proposed by Panayiotopoulos C. P. in 2005. Objective. To asses specific features of CAE taking into account the criteria of Panayiotopoulos C. P. (2005). Materials and methods . We have retrospectively analyzed 186 cases of CAE in children; study participants were divided into groups according to Panayiotopoulos’s criteria (2005). Results. Children from the group allocated in accordance with Panayiotopoulos’s criteria had neither generalized tonic-clonic seizures (GTCS) nor myoclonic seizures; control of absence seizures was achieved in 94.3% of the cases; almost 90% of children in this group received monotherapy with mean treatment duration of 2.8 years. Conclusions. The use of more precise diagnostic criteria for CAE will help to predict clinical course of this form of epilepsy and its outcome.

The frequency of detection of stroke in children has increased over the last 25 years (from 1.3 to 13/100 000). The children identified more than 100 risk factors for stroke, but more than a third of cases the cause is not identified. We have analyzed the incidence of epilepsy in children with stroke and risk factors to evaluate the possibility of occurrence of epileptic seizures. It handled 280 case histories of children who had a stroke in the period from 2013 to August 2015 (excluding children with perinatal stroke and bleeding with severe brain injuries) treated at the Morozov Children'sClinicalHospital. All children held in the dynamics of EEG, psychological testing, repeat MRI. The diagnosis of epilepsy had 24 children (8.6%) of the treated patient records. Ischemic stroke was diagnosed in 62%, hemorrhagic – 38%. In HS, prevailed children aged up to 3 years, with ischemic from 6 to 14 years. The most common attacks made their debut from 12 to 24 months after a stroke, some earlier occurrence of attacks observed in hemorrhagic stroke, from 1 month to 12 months (77%). Only 3/24 (12.5%) children seizures were observed in the acute phase stroke. In 71% was a combination of several types of attacks. Two of the children diagnosed with idiopathic forms epilepsy – childhood absence and juvenile myoclonic. Evaluation of the outcome of stroke scale PSOM-SNE and pathopsychological evaluation by the Achenbach revealed more severe neuropsychological problems in children with stroke with epileptic seizures than those without epilepsy.

This article describes 9 clinical cases of Aicardi–Goutieres syndrome (AGS) in children admitted to the hospital of the Scientific and Practical Center of Medical Care for Children with Resistant Multifocal Epilepsy. Epilepsy, psychomotor retardation, and a loss of previously acquired skills were diagnosed during the investigation. Targeted exome sequencing in one child revealed a mutation in the RNASEH2B gene responsible for the development of this disease. AGS is an early-onset progressive encephalopathy with basal ganglia calcification, leukodystrophy, lymphocytosis, elevated interferon-alfa levels in the cerebrospinal fluid, and no evidence of viral infection. Noninfectious leukoencephalopathy concurrent with multifocal epilepsy in early childhood suggest that the syndrome is an inherited disease.

The favorable pharmacokinetic profile of an antiepilepttc drug with linear kinetics, stable blood concentration, and no clinical interaction with other agents is important in treating epilepsy in children and adolescents in the outpatient setting. Levetinol (levetiracetam) meets these requirements. Objective: to assess the use of Levetinol in outpatient neuropediatric practice. Sixty-one patients aged 2 to 17 years with different types of epilepsy were examined. Forty-seven children were observed to have concomitant (neurological, somatic, and endocrine) diseases, which required a particularly careful approach to choosing an antiepileptic drug. Levetinol was given in a therapeutic dose of 30 to 70 mg/kg/day. TVventy-three (37,7%) children were on monotherapy; 33 (54%) had duo therapy; 5 (8,1%) received 3 drugs. A positive clinical effect was achieved in 53 children - in most at 3 months of therapy: 25, 50, and 75% reductions in seizures in 2,11, and 3 patients, respectively; no seizures within 3-5 months in 38 (62,2%) patients. Levetinol (levetiracetam) demonstrated a high therapeutic efficacy and good tolerability in patients, including children with comorbidities, owing to which it has an advantage over other medicaments used in outpatient neuropediatric practice.

Fifty-six out of 79 pediatric patients with supratentorial brain tumors were noted to have symptomatic epilepsy. Dysembryoplastic neuroepithelial tumors (DNET), diffuse astrocytomas (DA), and gangliogliomas (GG) were the most epileptogenic tumors. Seizures were new-onset in all our noted cases of DNET and in 4 patients with GG and the only clinical tumor sign in 6 of 8 cases of DNET. The neuroimaging features of the MRI pattern of DNET, DA, and GG were an iso/hypointense signal on Tl-weighted magnetic resonance images and a signal, the intensity of which varied from heterogeneous to cerebrospinal fluid, on T2-weighted FLAIR images. Cases of DNET and GG displayed no mass effect or perifocal edema, a trend towards location in the temporoinsular regions, and a frequent concurrence with local gray-white matter differentiation disorders and atrophy. The FLAIR images clearly showed the so-called foam-like (multicystic) structure with pericystic changes. No significant change in the dimensions of the identified DNET and GG was observed during the follow up period. In low-grade DA, tumor growth was reduced and it is difficult to differentiate minimal perifocal edema from tumor-like tissue. The sensitivity of these tumors to contrast enhancement is ambiguous. Along with DNET (that was epileptogenic in 100% of cases), DA (91,7%) and GG (80%) were the most common epileptogenic brain tumors.

The population frequency of neuropsychic developmental delays in infants is estimated at nearly 10%; that of global intellectual disability (mental retardation) is at 1-3%. Delayed development is denned as a substantial retardation as compared to the standard indicators in any of the basic spheres: motor, communicative, cognitive, adaptive-behavioral, and socioemotional ones. Global developmental delay is characterized by a significant lag in two or more spheres. The use of current diagnostic techniques, such as the Bayley or Griffiths scales, can provide an objective quantitative assessment of both an infant's overall development and indicators in individual spheres. At the preliminary examination stage, it is expedient to carry out a Denver developmental screening test that may be directly used in a doctor's consulting room. The causes of global developmental delay/intellectual disability in infants may be perinatal central nervous system (CNS) lesions; brain malformations; intrauterine infections; intrauterine intoxications; early-onset psychoneurological diseases (neuroinfections, CNS injuries, epilepsies, autism spectrum disorders, etc.); congenital hypothyroidism; genetic diseases. Among all genetic causes of global developmental delay/intellectual disability, there are chromosomal anomalies (25-30%), monogenic diseases (metabolic diseases, neuroectodermal syndromes, diseases with predominant grey and white matter involvement). The diagnostic possibilities of current genetic methods are considered.

During a clinical examination of children with autistic spectrum disorders, attention should be drawn to both their major clinical manifestations and neurological comorbidities. The paper considers the mechanisms of autism-induced neurological disorders, the spectrum of which may include manifestations, such as retarded and disharmonic early psychomotor development; the specific features of sensory perception/processing; rigidity and monotony of motor and psychic reactions; motor disinhibition and hyperexcitability; motor stereotypies; uncoordinated movements; developmental coordination disorders (dyspraxia); impaired expressive motor skills; speech and articulation disorders; tics; epilepsy. It describes the specific features of neurological symptoms in Asperger’s syndrome, particularly in semantic-pragmatic language disorders, higher incidence rates of hyperlexia, motor and vocal tics. The incidence rate of epilepsy in autistic spectrum disorders is emphasized to be greater than the average population one. At the same time, the risk of epilepsy is higher in mentally retarded patients with autism. Identification of neurological disorders is of great importance in determining the tactics of complex care for patients with autistic spectrum disorders.

The article reviews studies dealing with the use of the polypeptide nootropic and neurometabolic stimulant cortexin in the multimodal rehabilitation of patients with central nervous system diseases. The high efficiency of using cortexin is shown to be due to a combination of nootropic, neurotrophic, neuroprotective, reparative, and anticonvulsive effects, as well as antioxidant, metabolic, and antistress activities, which determines its high therapeutic efficacy in multimodal correction.

To evaluate the characteristics of neurodevelopment by the age of 5-8 years in children who were born very preterm with extremely low body weight (ELBW) and very low body weight (VLBW).Seventy-two patients, aged from 5 years to 8 years were examined. Patients were divided into group I (36 patients born preterm with ELBW (16 boys, 20 girls)) and group II (36 patients born with VLBW (16 boys, 20 girls)). The control group included 30 healthy peers (16 boys, 14 girls). All children were assessed by means of the Griffiths Mental Development Scales, Extended Revised: 2 to 8 years (GMDS-ER 2-8).The value of general quotient (GQ) in patients born with ELBW (73.4±2.1) was significantly lower compared to their healthy peers (80.9±2.1; p=0.036). The same tendency was found in patients born with VLBW who's GQ was decreased by 73.1±3.0 (p=0.101). Concurrently the patients demonstrated lower scores on all six scales, which achieved significant difference with the controls for the 'Locomotor' and 'Performance' scales in group I, and for the 'Performance' and 'Practical reasoning' scales in group II. The boys born with ELBW tended to demonstrate lower results on all six scales and received significantly lower scores on the 'Locomotor' and 'Language' scales. The boys born with VLBW demonstrated significantly lower scores on the 'Language', 'Eye and hand co-ordination' and 'Practical reasoning' scales. In girls significantly lower score on the 'Performance' scale only was shown for those, who were born with ELBW.Early diagnosis and characterization of developmental delays in children born very preterm determine the effectiveness of therapeutic measures based on the individual approach and comprehensive medical-psychological-pedagogical support.Цель исследования. Оценка нарушений нервно-психического развития у детей в возрасте 5-8 лет, родившихся глубоко недоношенными с экстремально низкой (ЭНМТ) или очень низкой (ОНМТ) массой тела. Материал и методы. Обследовали 72 пациентов в возрасте от 5 до 8 лет. Детей разделили на две группы: по 16 мальчиков и 20 девочек в каждой. В 1-ю группу вошли дети, которые были рождены глубоко недоношенными с ЭНМТ, во 2-ю - с ОНМТ. Группу контроля составили 30 (16 мальчиков, 14 девочек) здоровых, сопоставимых по возрасту. Для оценки нервно-психического развития всех детей применяли шкалу Гриффитс (GMDS-ER 2-8), состоящую из 6 субшкал. Результаты. Значения общего показателя нервно-психического развития (GQ) были статистически значимо более низкими у детей 1-й группы по сравнению с контролем (73,4±2,1 и 80,9±2,1 соответственно; р=0,036). У пациентов 2-й группы GQ также имел тенденцию к снижению и составил 73,1±3,0 (р=0,101). При дифференцированном анализе шкалы Гриффитс в 1-й группе снижение показателей достигало статистически значимых различий по субшкалам 'двигательная активность' и 'выполнение действий', во 2-й - по субшкалам 'выполнение действий' и 'практическое мышление'. У мальчиков 1-й группы статистически значимым было снижение баллов по субшкалам 'двигательная активность' и 'речь', 2-й группы - по субшкалам 'речь', 'зрительно-моторная координация', 'практическое мышление'. Среди девочек значимое снижение показателей было выявлено только в 1-й группе по субшкале 'выполнение действий'. Заключение. Ранняя диагностика и определение характера отставаний в развитии детей, родившихся глубоко недоношенными, определяет эффективность лечебно-реабилитационных мероприятий, при этом необходимы индивидуальный подход и комплексное медико-психолого-педагогическое сопровождение.

Study aim. To investigate the dynamics of measures of behavior, attention, and memory during treatment with Noofen (250-mg capsules) in children with attention deficit hyperactivity disorder (ADHD). Materials and methods. A total of 50 patients taking part in an open study were divided into two groups of 25 patients: patients of group 1 received Noofen while patients of group 2 (controls) received only low doses of multivitamins. Treatment lasted one month. Noofen was given at doses of 15–20 mg/kg (500–750 mg) per day using 250-mg capsules, as two or three doses. Results and conclusions. Neuropsychological test results at the end of one month of treatment demonstrated improvements in cognitive functions, including measures of self-control, sustained, focused, and distributed attention, and auditory verbal memory. It is suggested that the initial positive changes may provide a base for attaining more significant clinical outcomes with longer-lasting treatment.

To assess the efficacy of noophen (γ-amino-β-phenylbutyric acid hydrochloride) in the preventive treatment of tension-type headache (TTH) in children and adolescents.The study included 30 patients with TTH, aged from 8 to 16 years, treated with noophen in dose of 15-20 mg/kg per day (2-3 times perorally) during 2 month. Before and during the treatment characteristics of headache, its influence on daily activities were assessed with HIT-6 and PedMIDAS, anxiety disorders were assessed with SCAS, the dynamics of sleep disturbances in children were evaluated.A significant decrease in the frequency, duration and intensity of TTH as well as positive changes in daily life activities and reduction of anxiety and sleep disorders manifestations, which are the risk factors for TTH, were demonstrated during the treatment with noophen. Starting from the first month of treatment, there was a significant decrease in the number of days completely lost because of headache and days with the reduced activity (a decrease in the productivity by50%).Цель исследования. Оценка эффективности препарата ноофен (γ-амино-β-фенилмасляной кислоты гидрохлорид) в профилактической терапии головной боли напряжения (ГБН) у детей и подростков. Материал и методы. Обследованы 30 пациентов 8-16 лет с ГБН, которые принимали ноофен в течение 2 мес в дозе 15-20 мг/кг в день перорально в 2-3 приема. Контрольную группу составили 30 пациентов того же возраста, которым была назначена дыхательная гимнастика. До и во время лечения оценивали характеристики головной боли, ее влияние на повседневную активность по методикам HIT-6 и PedMIDAS, проявления тревожных расстройств по шкале детской тревоги SCAS, динамику по детской шкале нарушений сна. Результаты и заключение. На фоне терапии препаратом ноофен наряду с существенным уменьшением частоты, продолжительности и интенсивности ГБН установлена положительная динамика в повседневной активности пациентов, а также регресс проявлений тревожности и расстройств сна, которые относятся к факторам риска ГБН. Начиная с 1-го месяца терапии наблюдалось значительное уменьшение количества полностью 'потерянных' из-за головной боли дней и дней со сниженной активностью (снижение продуктивности более чем на 50%).

Neurodevelopmental disorders, including intellectual disability, autistic-spectrum disorders, speech disorders, attention deficit hyperactivity disorder (ADHD), learning disabilities, are more prevalent in children with epilepsy compared with the general population. Marked developmental delay and regression of acquired skills are characteristic of epileptic encephalopathies. Conditions, in which neurodevelopmental disorders are associated with the marked epileptiform EEG activity, while clinical epileptic seizures are absent, represent a serious problem. The authors consider the features of epilepsy with electrical status epilepticus during slow-wave sleep, pseudo-Lennox syndrome, Landau-Kleffner syndrome, children autistic epileptiform regression, autosomal-dominant rolandic epilepsy with verbal dispraxy and a combination of epilepsy and subclinical epileptiform EEG activity with developmental dysphasia and ADHD. In addition to the optimization of basic treatment with antiepileptic drugs (AEDs), nootropic drugs which do not increase epileptiform activity (hopantenic acid), are recommended.У детей с эпилепсией значительно чаще, чем в общей детской популяции, встречаются нарушения нервно-психического развития: общая интеллектуальная недостаточность, расстройства аутистического спектра, нарушения развития речи, синдром дефицита внимания и гиперактивности (СДВГ), расстройства обучения. Выраженное отставание в развитии, а также регресс ранее приобретенных навыков характерны для эпилептических энцефалопатий. Серьезную проблему представляют состояния, при которых нарушения нервно-психического развития ассоциированы с выраженной эпилептиформной активностью на ЭЭГ, а клинические эпилептические приступы отсутствуют. Рассматриваются особенности проявлений таких состояний, как эпилепсия с электрическим эпилептическим статусом медленноволнового сна, синдром псевдо-Леннокса, синдром Ландау-Клеффнера, детский аутистический эпилептиформный регресс, аутосомно-доминантная роландическая эпилепсия с речевой диспраксией, а также сочетание с эпилепсией и субклинической эпилептиформной активностью на ЭЭГ дисфазии развития и СДВГ. Помимо оптимизации основной терапии антиэпилептическими препаратами (АЭП) в случаях сочетания эпилепсии с нарушениями развития рекомендуются ноотропные препараты, которые не вызывают нарастания эпилептиформной активности (гопантеновая кислота).

To evaluate the efficacy and safety of tenoten for children in the treatment of specific developmental disorders of academic skills in children of 1-3 grades.Two hundred and forty children, aged 7-9 years, (Total set, Safety population) with verified specific reading disorder (F81.0), specific spelling disorder (F81.1), specific disorder of arithmetical skills (F81.2), mixed disorder of scholastic skills (F81.3; F81.2+F81.0, or F81.2+F81.1, or F81.2+F81.0+F81.1), diagnosed with the use of logopedic or psychological testing (15-35 scores in Fotekova T.A. and Akhutina T.V. reading and writing tests; 5-15 scores in arithmetical subscale of the Wechsler Intelligence Scale for Children) were enrolled in the study. CT was conducted in 10 clinical centers in Russian Federation in 2015- 2019. Patients were randomized into two groups. The first one (The mean total academic skills score increased by 18.55±15.87 points. The significant total difference between the median changes in the total score in the tenoten and placebo groups was 5 points. There was a trend towards positive changes in reading and spelling mean scores in tests that didn't reach statistical significance due to lack of normal distribution of points in samples. There were 73 adverse events (AEs) in 42 patients of the tenoten group and 95 AEs in 31 children of the placebo group. No serious or severe AEs were registered in the tenoten group. No AEs definitely related to the study treatment were registered. No negative drug interactions were observed in the tenoten group.Tenoten for children is an effective and safe treatment for specific developmental disorders of academic skills in primary school children. Tenoten for children is well tolerated. The treatment is characterized by a high level of adherence of children and their parents to therapy.Изучение эффективности и безопасности Тенотена детского в терапии специфических расстройств развития учебных навыков у учащихся 1—3-го классов.В многоцентровое двойное слепое рандомизированное плацебо-контролируемое клиническое исследование были включены 240 детей в возрасте 7—9 лет с диагностированными расстройствами чтения (F81.0), спеллингования (F81.1), арифметических навыков (F81.2), смешанными расстройствами учебных навыков (F81.3; расстройство, одновременно отвечающее критериям подрубрик F81.2+F81.0, либо F81.2+F81.1, либо F81.2+F81.0+F81.1), подтвержденными результатами логопедического и психолого-педагогического тестирования (15—35 баллов при оценке чтения и 15—30 баллов при оценке письма по методу Т.А. Фотековой, Т.В. Ахутиной; 5—15 баллов по результатам субтеста №3 «Арифметический» теста Векслера). Клиническое исследование проведено в 10 клинических центрах в РФ в 2015—2019 гг. Пациенты были рандомизированы в 2 группы. Первая группа (В результате лечения Тенотеном детским суммарный балл сформированности учебных навыков увеличился на 18,55±15,87 балла. Статистически значимая итоговая разница между медианными изменениями суммарного балла в группах Тенотена детского и плацебо составила 5 баллов. Отмечена тенденция к положительному влиянию терапии на средние баллы чтения и письма по результатам тестов, однако отсутствие нормального распределения баллов в выборках не позволило получить статистически значимые различия между группами. В ходе исследования было зарегистрировано 73 нежелательных явления (НЯ) у 42 пациентов группы Тенотена детского и 95 НЯ у 31 пациента группы плацебо. В группе Тенотена детского не выявлены НЯ тяжелой степени и серьезные НЯ. Не выявлено ни одного НЯ, достоверно связанного с применением исследуемого препарата, и не зарегистрировано случаев взаимодействия Тенотена детского с лекарственными средствами различных классов.Применение препарата Тенотен детский в лечении специфических расстройств развития учебных навыков у детей младшего школьного возраста является эффективным и безопасным, хорошо переносится и сочетается с высоким уровнем приверженности терапии детей и их родителей.

A total of 722 patients (374 men and 348 women, aged from three months to 57 years) were treated with topiramate during the period 2002–2012. Epilepsy was diagnosed and antiepileptic treatment was evaluated using follow-up video-EEG monitoring. Topiramate was effective in 465 patients (64.4%), the efficacy of monotherapy (72.2%) being greater than that of combined therapy (61.9%). Low efficacy was noted in 198 patients (27.4%). Aggravation was seen in 59 cases (8.2%). Compliance (remaining on treatment for more than one year) was 60.79%. High efficacy in children aged less than one year was seen in 55.2% of cases, while low efficacy was seen in 34.5% and aggravation in 10.3%; among children aged 1–3 years, high efficacy was seen in 54.8% and low efficacy was seen in 31.8%, with aggravation in 13.4%; in children aged over three years, efficacy was high in 67.3% and low in 26.2%, with aggravation in 6.5%; in the adult population aged over 18 years, the agent was effective in 82.1% of patients, with low efficacy in 16.6%, and aggravation in just one patient. Topiramate demonstrated high efficacy in the treatment of idiopathic generalized forms of epilepsy (IGE) without absences, as well as in symptomatic/cryptogenic focal forms of epilepsy. Increases in patients’ age were associated with increases in the efficacy of topiramate, while the risk of aggravation decreased significantly.

A total of 32 children aged 6–12 years with attention deficit hyperactivity disorder (ADHD) were monitored during prolonged (6–8 months) treatment with Pantogam (homopantothenic acid) at daily doses of 500–1000 mg. Treatment results were assessed using the DSM-IV core ADHD symptom scales and the WFIRS-P (parental) scale every two months. Decreases in core symptoms on the DSM-IV core ADHD symptom scale were seen at two months of treatment. Significant changes on the WFIRS-P scale took longer: improvements in self-concept, socialization, and social activity were seen at four months and in behavior and schoolwork, basic life skills, along with decreases in risk-associated behavior, at six months. Thus, in contrast to regression of core ADHD symptoms, overcoming impairments in social-psychological adaptation required longer treatment periods.

To study clinical characteristics mechanisms and pathogenesis of the tension-type headache (TTH) in children and adolescents treated with nooclerin.The blind randomized placebo-controlled study of the efficacy of nooclerin (deanol aceglumate) indicated during 2 months as a preventive treatment of TTH was performed. Forty patients (15 male and 25 female), aged 9-16 years, were randomized into two equal groups to receive either nooclerin or placebo.Nooclerin significantly reduced the frequency, duration and intensity of TTH. The treatment resulted in positive dynamics in daily activities, regression of fatigue symptoms and normalization of the sleep-wake cycle.Цель исследования. Оценка эффективности препарата нооклерин в профилактической терапии головной боли напряжения (ГБН) у детей и подростков. Материал и методы. Проведено слепое рандомизированное плацебо-контролируемое исследование эффективности нооклерина (деанола ацеглумат), назначавшегося в течение 2 мес с целью профилактической терапии ГБН. Лечили 40 пациентов, 15 мужского и 25 женского пола в возрасте 9-16 лет, распределенных на две группы по 20 человек (препарат и плацебо). Результаты и заключение. Применение нооклерина привело к существенному уменьшению частоты, продолжительности и интенсивности ГБН, положительной динамике в повседневной активности пациентов, регрессу проявлений астении и нормализации цикла сон-бодрствование.

To evaluate the efficacy and safety of hopantenic acid (Pantogam) in the complex treatment of prematurely born infants, aged 6-12 months, with psychomotor developmental delay due to hypoxic-ischemic encephalopathy.Eighty-seven patients were randomized into two groups: 44 received standardized treatment and pantogam for two months, 43 standardized treatment and placebo. Pantogam (syrup 100 mg/ml) or placebo were prescribed orally 15-30 minutes after feeding, twice a day, in a daily dosage of 30-50 mg/kg body weight. The assessment of psychomotor development from birth to two years was performed with the Griffiths Mental Development Scales (GMDS-ER) twice (before and after completion of therapy).The response to two month therapy determined as the reduction of developmental delay for more than 6% of the initial GMDS-ER general quotient (GQ) score was significantly better in the group I after pantogam treatment (63.6% of patients) compared to group II (36.4%, p=0.021). Group I demonstrated the significant decrease of the developmental delay in two domains ('Personal-Social' and 'Performance') and a trend to overcome the delay in three other domains: 'Locomotor', 'Hearing and Speech', 'Eye and Hand Coordination'. The improvement after pantogam treatment was more obvious in the subgroup of infants born late preterm (gestational age 34-36 weeks) compared to infants born moderate preterm (gestational age 32-33 weeks). The favorable safety profile of pantogam was confirmed, comparable to that of placebo.Pantogam is efficient and safe medication in the complex treatment of psychomotor developmental delay in preterm infants, aged 6-12 months.Цель исследования. Изучение эффективности и безопасности лекарственного препарата (ЛП) гопантеновой кислоты Пантогам в комплексном лечении рожденных недоношенными детей в возрасте 6-12 мес с задержкой психомоторного развития вследствие перенесенного гипоксически-ишемического поражения центральной нервной системы. Материал и методы. Обследовали 87 пациентов, рандомизированных на две группы. Пациентам 1-й группы (44 ребенка) в течение 2 мес назначена стандартная терапия и дополнительно ЛП Пантогам, пациентам 2-й группы (43 ребенка) - стандартная терапия плюс плацебо. Пантогам (сироп 100 мг/мл) или плацебо применяли внутрь через 15-30 мин после кормления 2 раза в день в суточной дозе 30-50 мг на 1 кг массы тела. Продолжительность терапии составила 67 дней. Всех пациентов дважды (до и по окончании курса лечения) обследовали с помощью шкал Гриффитс для оценки психомоторного развития детей от рождения до 2 лет (использовали дополненную и пересмотренную версию - GMDS-ER). Результаты. В 1-й группе после лечения отмечено улучшение психомоторного развития более чем на 6% (от исходной величины общего показателя по шкалам Гриффитс) у 63,6% пациентов, что значимо превысило аналогичный показатель во 2-й группе - 39,5% (p=0,021). В 1-й группе наблюдали значимое сокращение отставания в развитии по сферам 'Личностно-социальная' и 'Манипуляции с предметами', а также тенденцию к уменьшению отставания по трем остальным сферам: 'Двигательная активность', 'Слух и речь', 'Зрительно-моторная координация'. Более выраженная положительная динамика после лечения ЛП Пантогам определена в подгруппе пациентов с поздней недоношенностью (34-36 нед) по сравнению с детьми с умеренной недоношенностью (32-33 нед). Подтвержден благоприятный профиль безопасности ЛП Пантогам, сопоставимый с плацебо. Заключение. Пантогам является эффективным и безопасным средством в комплексном лечении задержки психомоторного развития у детей первого года жизни.

The objective of the study was to compare the efficacy and tolerability of once-daily atomoxetine (or =1.8 mg/(kg day) with those of placebo in children and adolescents (aged 6-16 years) with attention-deficit/hyperactivity disorder [ADHD (DSM-IV)]. This randomized, placebo-controlled, double-blind trial was conducted in Russia. The primary efficacy measure was baseline-to-end point changes in Attention-Deficit/Hyperactivity Disorder Rating Scale-IV-Parent Version: Investigator-Administered and Scored (ADHDRS-IV-Parent:Inv) total score. Tolerability measures included treatment-emergent signs and symptoms (TESS), laboratory values and weight. Compared with patients in the placebo group (n = 33), patients treated with atomoxetine (n = 72) with a mean final dose of 1.4 mg/kg showed significantly greater improvement in ADHDRS-IV-Parent:Inv total score (least-squares mean: atomoxetine, -15.8; placebo, -11.4; p = 0.013). The most common TESS in the atomoxetine group included anorexia [atomoxetine, n = 13 (18.1%); placebo, n = 2 (6.1%)], somnolence, n = 11 versus n = 3 (15.3% vs. 9.1%, respectively), abdominal pain n = 9 versus n = 1 (12.5% vs. 3.0%, respectively) and nausea, n = 8 versus n = 1 (11.1% vs. 3.0%, respectively). Seven patients in the atomoxetine group and two in the placebo group experienced clinically important weight loss during the study (or =7% from baseline; mean change, kg: atomoxetine, -0.6; placebo, 0.1; p = 0.032). Atomoxetine is efficacious in improving ADHD symptoms in children and adolescents. Atomoxetine treatment may be associated with a numerically higher incidence of anorexia, somnolence, abdominal pain and nausea, as well as statistically greater losses in body weight.

Chronic tics (CT) are observed in 3-4% population, Tourette syndrome (TS) in 0.1-3.0%. In most cases, tic disorders start at age 2-15 years, but frequently they are diagnosed late. Clinical presentations of tics and comorbid disorders are various and depend on child's age. Difficulties in treatment of CT are associated with their persistence and those for TS with the fluctuating course of tics and probable onset of the disease in the form of behavioral disorders. Treatment of CT and TS is individual. Methods of behavioral and psychotherapy are recommended for a certain period of time if tics do not hamper everyday life. Increase in tick frequency and severity indicate the necessity of using pharmacological treatment. The European recommendations on pharmacotherapy of tic disorders and the drugs available in Russia are considered. Results of the studies on the efficacy of antiepileptic drugs and tenoten children in CT and TS are presented.Хронические тики (ХТ) встречаются у 3-4% населения, синдром Туретта (СТ) - у 0,1-3,0%. Дебют тикозных расстройств в большинстве случаев приходится на возраст от 2 до 15 лет. но они часто диагностируются поздно. Клинические проявления тиков и сопутствующих им расстройств разнообразны и зависят от возраста ребенка. Трудности в лечении ХТ связаны с их персистированием, СТ - с флюктуирующим течением тиков, а также возможным дебютом заболевания поведенческих нарушений. Лечение ХТ и СТ носит индивидуальный характер: если тики не мешают пациентам в их повседневной жизни, то на определенный период могут рекомендоваться методы поведенческой и психотерапии; усиление и учащение тиков служат показаниями для назначения фармакотерапевтических средств. Рассматриваются Европейские рекомендации по фармакотерапии тикозных расстройств и доступные в России препараты. Приводятся данные исследований эффективности при ХТ и СТ противоэпилептических препаратов, а также препарата тенотен детский.

Opsoclonus-myoclonus syndrome (OMS) is a rare neurological disorder with unknown etiology and pathogenesis. There is not enough knowledge about psychological development of children with OMS.To study an influence of the time of disease onset and children's age and type of disease course on psychological development of children with OMS.The study included 26 children with OMS of age between 1 year 7 months and 13 years, 10 boys and 16 girls. The following methods were used: analysis of patient's development records, psychological interview with parents, assessment of emotional, behavioral, motion state and interpersonal relations.The disease onset at the early stage of ontogenesis (before 3 years) results into severe psychological disorders. Patients at the age between 3 and 5 years demonstrate the maximal number of developmental delays with possibilities of compensation. The article discusses a possible role of psychotraumatic and psychosocial factors in psychological disorders in children with OMS. The influence of age should be taken into account in planning of treatment and rehabilitation and evaluation of disease prognosis.Опсоклонус-миоклонус-синдром (ОМС), возникающий чаще всего в детском возрасте, является редким и малоизученным в отношении этиологии и патогенеза заболеванием. Актуальность исследования - недостаточность данных о психическом развитии детей при ОМС. Цель исследования. Анализ особенностей психического развития детей с ОМС при разном возрасте начала и разных типах течения заболевания. Материал и методы. Обследовали 26 детей с ОМС (10 мальчиков, 16 девочек) в возрасте от 1 года 7 мес до 13 лет. В процессе клинико-неврологического и психологического обследования анализировали данные историй болезни, проводили беседы с родителями, оценивали эмоциональное состояние детей, поведенческие двигательные проявления болезни, когнитивное развитие больных и особенности их межличностных отношений. Результаты и заключение. Установлено, что при начале заболевания в наиболее ранний этап онтогенеза (до 3 лет) отмечаются более выраженные нарушения психического развития. Выделен возраст пациентов (от 3 до 5 лет), в котором наблюдается максимальное количество задержек психического развития с возможностями компенсации и развитием, близким к нормативному. Обсуждаются вопросы возможной роли психотравматического и психосоциальных факторов в развитии нарушений психического развития у детей с ОМС с учетом возраста. Подчеркивается значение возрастного фактора для планирования лечебно-реабилитационных мероприятий и оценки прогноза заболевания.

Objective: Functional outcomes were measured over a 12-month period in children and adolescents with attention deficit hyperactivity disorder (ADHD) after they received monotherapy. Design: Prospective, observational, noninterventional study. Setting: Conducted in six non-Western countries. Participants: Outpatients 6 to 17 years of age with a verified diagnosis of ADHD in accordance with the Diagnostic and Statistical Manual, Fourth Edition, Text Revision (DSM-IV-TR), together with their physicians, decided to initiate or switch treatment for ADHD. Patients were prescribed pharmacological monotherapy: methylphenidate (n=221), nootropic agents (n=91), or atomoxetine (n=234). Measurements: Patients were followed for changes in their functional status and quality of life, which were assessed with the Child Health and Illness Profile–Child Edition (CHIPCE) Achievement domain. Results: At the end of the study, a mean improvement on the CHIP-CE Achievement domain score was observed for all countries and therapies except in Taiwan, where patients received atomoxetine, and in Lebanon, where patients received methylphenidate. No patient experienced a serious adverse event during the study. Four patients discontinued due to a treatment-emergent adverse event. Conclusion: After 12 months of treatment, clinical and functional outcomes were improved in children and adolescents from non-Western countries who initiated and remained on their prescribed pharmacological monotherapy.

To optimize a system of medical care, introduction of treatment and diagnostic guidelines, including secondary stroke prevention and rehabilitation measures, by implementation of pediatric stroke registry.Fifty-seven patients, aged from 1 year to 17 years 11 months, included into the Moscow city registry of pediatric stroke were examined. Forty-two patients suffered ischemic stroke and 15 hemorrhagic stroke.The diagnostic search for the causes of pediatric stroke is difficult due to the wide variety of etiologic factors and high frequency of their combinations. This confirms the necessity of multidisciplinary approach to the management of children and adolescents in the acute phase of stroke in a multiprofile hospital with the following specialized ambulatory care.Цель исследования. Оптимизация системы оказания помощи больным, введение лечебных и диагностических стандартов, включая профилактику повторных инсультов и реабилитационные мероприятия, путем создания педиатрического регистра инсульта. Материал и методы. Обследованы 57 пациентов в возрасте от 1 года до 17 лет 11 мес, включенных в Московский городской регистр педиатрического инсульта, из которых 42 перенесли ишемический инсульт, 15 - геморрагический. Результаты и заключение. Диагностический поиск причин детского инсульта труден в связи с широким многообразием этиологических факторов и частой встречаемостью их комбинаций. Это подтверждает необходимость обследования и лечения детей и подростков в остром периоде инсульта в условиях многопрофильного стационара, а в дальнейшем - специализированного амбулаторного учреждения.Цель исследования. Оптимизация системы оказания помощи больным, введение лечебных и диагностических стандартов, включая профилактику повторных инсультов и реабилитационные мероприятия, путем создания педиатрического регистра инсульта. Материал и методы. Обследованы 57 пациентов в возрасте от 1 года до 17 лет 11 мес, включенных в Московский городской регистр педиатрического инсульта, из которых 42 перенесли ишемический инсульт, 15 — геморрагический. Результаты и заключение. Диагностический поиск причин детского инсульта труден в связи с широким многообразием этиологических факторов и частой встречаемостью их комбинаций. Это подтверждает необходимость обследования и лечения детей и подростков в остром периоде инсульта в условиях многопрофильного стационара, а в дальнейшем — специализированного амбулаторного учреждения.