Vol 1, No 1 (2020)

Introduction. Epilepsy makes its debut in childhood and adolescence, being one of the main diseases in pediatric neurology. Epilepsy in children can often lead to significant cognitive disorders.

The purpose of the work is to identify the features of mental and cognitive development of children with epilepsy.

Material and methods. A group of 929 children aged 2-11 years with different forms of epilepsy was examined. Depending on the age and severity of the disease, the children underwent a complete neuropsychological examination with in-depth study of verbal-mnestic and speech functions, or a survey based on a specially developed “mental development profile” for children with mental disabilities. For children with preserved intelligence, the method of syndrome analysis was adapted and applied. Based on the results of testing, qualitative and quantitative assessment of the parameters of the analyzed processes was carried out. The “mental development profile” for the child was displayed graphically, with the introduction of quantitative and qualitative assessments of certain areas of cognitive activity. Electrophysiological, neuroimaging and standard clinical diagnostic methods were used in all children.

Results. The specificity of neuropsychological deficiency in children with epilepsy is determined by the locus of epiactivity. The peculiarity of the deviant type of formation of mental functions is manifested in children already at the early stages of epilepsy, it is associated with dysfunction of different brain zones due to the negative impact of epileptiform activity.

Neuropsychological syndromes in different forms of epilepsy are variable, their psychological content is determined by factors related to the localization of the focus of epiactivity, the child’s mental development, and the severity of the disease.

The interhemispheric asymmetry of neuropsychological deficits was established for different locations of the epiactivity focus. The greatest severity of cognitive impairment is observed when the focus is located in the left hemisphere. The location of the epicenter of epiactivity in the frontotemporal regions can lead to cerebral dementia (the collapse of simple programs and purposeful subject activity), and behavior disorders.

Children with epilepsy who have an epiactivity locus in the parietal-occipital regions of the brain have violations of constructive praxis and visual-spatial gnosis, as well as difficulties in learning to read and write.

Conclusion. The neuropsychological method of studying the structural and functional foundations of mnestic, speech, and other types of cognitive activity in children with epilepsy has allowed us to establish that deviations in the development of mental functions in this category of children arise from insufficiently formed individual links of the functional system and the relationship between them. The presence of an epicenter of epilepsy in children with epilepsy at the early stages of the disease can cause a neuropsychological deficit in the development of higher mental functions.

Background. Pitt–Hopkins syndrome (PHS) is the rare inherited disease, caused by a microdeletion on chromosome 18q21 or heterozygous mutation TCF4 gene and characterized by severe mental retardation, abnormal breathing patterns: hyperventilation, apnea, and unusual facial features.

Material and method. We examined 9 children, included 4 boys and 5 girls at the age of 1 year 8 months to 12 years with PHS. All children have clinical symptoms characteristic of this syndrome. The diagnosis was confirmed by Array CGH (deletion of genomic material in chromosomal region 18q21) and new generation sequencing.

Results. Microdeletions chromosome 18 (18q21) were identified in 5 patients. The size of the microdeletions varied from 307 Kb to 11.62 Mb. A point mutation was detected in 4 children: two patients had a mutation in the splicing site, 1 — missense and 1 — nonsense-mutation. The clinical picture was analyzed in all children: psychomotor retardation, severe intellectual disability, poor speech, autistic behavior, hypotonia, and specific phenotype.

Conclusion. Comparative analysis of the clinical picture in patients with PHS, caused by a microdeletion on chromosome 18q21 and point mutation in the TCF4 gene showed that no significant clinical differences were found. The main clinical criteria for suspecting PHS are gross developmental delay, severe delayed psychomotor development, behavioral disorders, and episodes of hyperventilation with the subsequent apnea.

Headaches occurring during sleep are one of the most common types of night time pain complaints, along with back pain. Sleep-related headaches can be a manifestation of both primary headaches (migraine, cluster headache, chronic paroxysmal hemicrania, hypnic headache) and secondary headaches associated with somatic pathology (anemia, hypoxemia), neurological disorders (brain tumors, arteriovenous malformations), psychiatric (depressive, anxiety) and sleep disorders (obstructive sleep apnea). The relationship between headaches and sleep depends on the patient’s age, frequency and severity of the headaches, provoking factors (excessive sleep, sleep deprivation, overuse of painkillers), the stage of sleep (REM sleep or slow-wave sleep) and possible genetic predisposition (hemiplegic migraine).

The connections between sleep and headaches are complex and interrelated. Sleep can both provoke and relieve headaches. On the other hand, headaches can cause sleep disorders, which are typical for a severe type of cephalgia with the development of chronic daily headache syndrome, medication overuse, and psychiatric comorbidity. General anatomical structures, neurochemical and neurophysiological mechanisms involved in sleep and headache regulation are assumed. According to polysomnography data, objective changes in the structure of night sleep were detected in patients with a sleep-related headache: a reduction in the sleep duration and a decrease in the slow-wave sleep representation. Most nighttime headache attacks are linked with the REM sleep phase.

Management of patients with sleep-related headaches should include the diagnosis and treatment of both headache and sleep disorder, which will significantly improve the results of treatment or even cure headaches in some cases.

Hereditary neuromuscular diseases (HNMD) represent a large group of heterogenic morbid conditions, characterized by muscular weakness, muscular atrophies, disturbances of postural control and locomotor functions. Scientific research on HNMD, performed by academician L.O. Badalyan and his followers laid the background for solving many issues, regarding the diagnosis and treatment of these severe, progressive diseases. In many ways, academician L.O. Badalyan and his followers have anticipated the current understanding of pathogenic mechanisms of HNMD, which later were disclosed by means of modern molecular-genetic technologies. HNMD include progressive muscular dystrophies (PMD), spinal muscular atrophies (SMA), hereditary motor and sensory neuropathies, myopathic syndromes. The most prevalent progressive HNMDs are represented by dystrophinopathies (Duchenne PMD and Becker PMD) and limb girdle HNMD. The authors discuss experience and achievements in the studies of HNMDs and PMDs, conducted by academician L.O. Badalyan and his followers, as necessary prerequisites for the creation of modern approaches to genetic diagnostics of the diseases and forming their genetic registries, development of methods of etiopathogenetic therapy. Thanks to the accumulated experience and research there were discovered genes, which determine the HNMD development, pathogenic mechanisms of diseases with heterogenic clinical manifestations were studied. The data were accumulated for the formation of patients’ registries, determining groups for which a particular drug is being developed. The progress in genetic research has made it possible to identify more than 30 forms of limb-girdle PMD. A newly published classification of limb-girdle PMD is given, illustrating their genetic heterogeneity, the type of inheritance, the genetic locus of the mutation and defective protein are now taken into account. The article lists promising current global trends in the development of approaches to pathogenetic therapy of dystrophinopathies and limb-girdle PMD.