Stuttering is characterized by frequent repetition or lengthening of sounds, syllables or words, or by frequent hesitations or pauses that disrupt the rhythmic flow of speech. It may be accompanied by movements of the face and/or other parts of the body that coincide in time with the repetitions, prolongations, or pauses in speech flow. The prevalence of stuttering ranges from 0.3% to 5.6%. Usually for 80%-90% of patients stuttering starts gradually when children are 2-7 years old. Longitudinal research shows that 65% -85% of stuttering children recover. The rate of heritability of stuttering is about 70%, indicating that almost one third of the disorder is caused by environmental factors. Currently four stuttering genes have been identified that are involved in intracellular metabolism: GNPTAB, GNPTG, NAGPA and AP4E1. The disorder is caused by single nucleotide synonymous or missense mutations in the exons of these genes. Different people affected by stuttering can carry different sets of mutant variants ‒ from one to several. The effect of the identified genes on neurobiological processes in the human brain and on the development of stuttering remains unknown. So far it has only been discovered that stuttering occurs due to lysosomal dysfunction, which adversely affects the organization of neurofilaments of speech neural networks. The contribution of identified genes to stuttering cumulatively is only 20%. There were identified also 9 candidate stuttering genes (FADS2, PLXNA4, CTNNA3, ARNT2, EYA2, PCSK5, SLC24A3, FMN1 and ADARB2) and 7 regions of 6 chromosomes (2p, 3p, 3q, 12q, 14q, 15q and 16q) reliably linked to this disorder. Further successful genetic studies of stuttering are needed to improve our understanding and treatment of this long-enigmatic disorder.
Epilepsy is a group of painful conditions caused by brain disorders, which are characterized by a persistent predisposition to epileptic seizures, as well as neurobiological, cognitive, psychological and social consequences. Currently, the overall prevalence of epilepsy in the world's population is 0.88% and ranges from 0.64% in developed countries to 1.00% in other countries. The prevalence of epilepsy in men is slightly higher than in women, and heredity varies between 25%-70%. According to the current classification, epilepsy includes four main forms: focal epilepsy, generalized epilepsy, combined focal and generalized epilepsy, and indeterminate epilepsy. The most common form of epilepsy is focal epilepsy, which accounts for 60% of all epilepsies. Currently, 14 genes associated with the development of epilepsy have been described, the functions of which are impaired by the presence of single nucleotide polymorphisms (SNPs). These SNPs can be located not only in the coding regions of genes (exons) or regulatory regions (eg., promoters), but also in their non-coding regions (introns), as well as in intergenic regions of DNA near a particular gene. Further research into the genetics of epilepsy should focus on developing new analytical approaches that will help uncover the unknown molecular genetic mechanisms of this group of disorders. Advances in the genetics of epilepsy will have a positive impact on clinical practice.
ПОМОГАЙБО Валентин Михайлович кандидат біологічних наук, професор-консультант кафедри спеціальної освіти і соціальної роботи Полтавського національного педагогічного університету імені В. Г. Короленка БЕРЕЗАН Олексій Іванович кандидат медичних наук, доцент кафедри спеціальної освіти і соціальної роботи Полтавського національного педагогічного університету імені В. Г. Короленка ПЕТРУШОВ Андрій Васильович кандидат медичних наук, доцент кафедри спеціальної освіти і соціальної роботи Полтавського національного педагогічного університету імені В. Г. Короленка V. Pomohaibo, O. Berezan, A. Petrushov MENTAL AND GENETIC FACTORS OF PERSONAL LIFE SUCCESS Some individuals and even human communities in spite of not promising social origin, gain a significant social height in life, while others, the same, do not achieve anything at all. Studies have shown that the most successful communities in the United States, despite their insignificant share of the population, are Jews, Indians, Chinese, Nigerians, Cubans, Iranians, Lebanese and Mormons. It has been found out that these communities are characterized by an integrated set of three psychological featuresa superiority complex, insecurity and self-control. The superiority complex is based on deep inner confidence in the uniqueness of your community compared to others. Insecurity is an anxious uncertainty in social significance, concern about insufficient results of personal activities. Self-control means the ability to withstand various temptations, especially the temptation to refuse of difficulties and put away hard task rather than execute it. Education is the key to successful life of an individual and the prosperity of society. Learning ability as well as all other human complex variable traits, is formed under the influence of a certain combination of genetic factors and environmental conditions, as it can be seen with the level of its heritabilityabout 60%. Recently over 1300 genetic markers of learning ability have been identified in the human genome as singlenucleotide polymorphisms, which are scattered predominantly in non-coding DNA regions. We propose to use the revealed principles of educational and life success achievements in the process of Ukrainian education reformation.
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