Vol 14, No 1 (2019)
- Year: 2019
- Published: 15.01.2019
- Articles: 6
- URL: https://rjdn.abvpress.ru/jour/issue/view/28
Full Issue
AUTHENTIC ARTICLES
Shall we treat patients with benign epileptiform discharges of childhood without epileptic seizures?
Abstract
Benign epileptiform discharges of childhood are age-dependent electroencephalogram patterns associated with idiopathic benign focal epilepsy. Multiple studies have demonstrated that focal epileptiform discharges can be registered in patients without any clinical manifestations of epilepsy. Long-term follow-up of clinically healthy children with benign epileptiform discharges of childhood on electroencephalogram demonstrated that 14 % of them developed epileptic seizures with age and 50 % developed various cognitive and behavioral disorders. The question of whether or not to treat such patients (with benign epileptiform discharges of childhood on electroencephalogram but without epileptic seizure) is still being widely discussed. Individual decision making with the consideration of potential risks and benefits for a patient is preferable in this case. Valproic acid is the drug of first choice in these patients.
7-13
Attention deficit hyperactivity disorder: new in understanding and treatment approaches
Abstract
Data of examination of 406 patients with the preliminary diagnosis attention deficit hyperactivity disorder (ADHD) are presented in the article. Only at 3rd of patients the given diagnosis has proved to be true, and at 70.4 % from them is revealed burdening perinatal background. Clinical aspects and survey results at patients with ADHD are stated in detail. The obtained data allows to draw a conclusion, what exactly a combination anteand intranatal trouble factors cause hypoxia and cerebral ischemia, underlying formation ADHD. The data of the comparative analysis of the efficacy of allopathic treatment and the osteopathic approach are presented.
14-25
REVIEWS AND LECTURES
Electroencephalogram in premature infants: from normal to pathological activity
Abstract
This study was aimed to assess electrophysiological brain activity in newborns of various gestational ages using electroencephalography (EEG). We summarized the data on the main EEG characteristics of premature infants and their dynamics and described the most common pathological EEG changes that can be identified at this age. We also discussed prognostic value of various neonatal EEG patterns (including their proportion and location), which allow verification of functional brain disorders at early stages.
26-35
Lesions of the nervous system in children with type 1 diabetes mellitus (literature review)
Abstract
This article provides an overview of the current literature on the most common complication of type 1 diabetes in children – diabetic neuropathy (DN). Diabetic neuropathy is a consequence of the widespread defeat of neurons and their processes in the central and peripheral nervous system due to metabolic, vascular and immune changes in diabetes and manifested in most children and adolescents with distal polyneuropathy and autonomic neuropathy. The mechanisms of the pathogenesis of the development of DN are discussed in the article, and it is noted that the clinical picture of DN is diverse and depends on the severity, nature of the lesion and the type of nerve fibers. The article deals with diagnostics, the criteria for diagnosis and treatment of DN.
36-39
Controversial issues in comorbidity between epilepsy and autism: subclinical epileptiform activity and autistic epileptiform regression
Abstract
Early childhood autism, or autism spectrum disorders, is an extremely heterogeneous group of conditions that share similar symptoms of dysontogenesis. The most significant comorbidity in patients with autism is epilepsy, which is still associated with a variety of controversies. The present article covers the most controversial aspects of comorbidity between autism and epilepsy, including the impact of psychopharmacotherapy on the risk of epilepsy, clinical significance of epileptiform activity on the electroencephalogram in patients without epilepsy, and criteria for and prevalence of autistic epileptiform regression syndrome. We found that there is still a lack of reliable evidence for the majority of issues related to the combination of autism and epilepsy. We emphasize the need for further studies. We also provide a detailed description of the history, criteria, prevalence, and clinical examples of autistic epileptiform regression syndrome.
40-48
CLINICAL OBSERVATIONS
Gillespiе syndrome, caused by previously undescribed mutation in the gene ITPR1
Abstract
Gillespie syndrome is one of the rare monogenic syndromes characterized by a combination of congenital muscular hypotonia, delayed psychomotor and speech development, ataxia and hypoplasia of the iris. The cause of disease – homozygous, compound heterozygous and heterozygous mutations in the gene ITPR1.
We described a case history of a child of 1 year and 8 months whose parents were complaining of severe delay in psychomotor and speech development, and a violation of the functions of the visual analyzer. Neurological and ophthalmologic examinations were performed according to a standard procedure. Search for mutations was carried out using high-performance exome sequencing on NextSeg 500 (Illumina, USA) with an average coverage of at least 70–100x.
Clinical and genetic characteristics of the patient with Gillespie syndrome due to the newly identified heterozygous missense mutation are presented. Mutation 1865T˃S in the 18 exon of the ITPR1 gene was found during the new generation sequencing of the exome. In the future, these data can be used to predict the characteristics of clinical manifestations and the severity of Gillespie syndrome, when a similar nucleotide substitution will be found in other patients.
49-53
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