103 -4 (54) 2023 — Artykova Mavlyuda Abduraxmanovna, Yuldashev Murod Zaripovich. — GENETIC ASPECTS OF THE DEVELOPMENT OF CHILD CEREBRAL PALSY AND SYMPTOMATIC EPILEPSY

GENETIC ASPECTS OF THE DEVELOPMENT OF CHILD CEREBRAL PALSY AND SYMPTOMATIC EPILEPSY

Artykova Mavlyuda Abduraxmanovna, Bukhara State Medical Institute named after Abu Ali ibn Sina

Yuldashev Murod Zaripovich. Bukhara State Medical Institute named after Abu Ali ibn Sina

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The urgency of the problem. Organic factors of the nervous system, in particular cerebral palsy (CSP), cause only a big medical and social problem not in Uzbekistan, but throughout the world. Symptomatic epilepsy (SE) further exacerbates the disease. Close attention arises to the genetic aspects of the development of these diseases. In cases of persistent progression of the disease, as well as spontaneous improvement in health, a large role belongs to the characteristics of genetically determined protective factors, one of which is haptoglobin (Hp). The inheritance of haptoglobin types in strict accordance with the Mendelian distribution, the constancy of their state in individual life, made it possible to use this serum protein as a genetic marker.

The purpose of the study was to find out the features of the course of various clinical forms of cerebral palsy without epilepsy and complicated SE depending on the haptoglobin phenotype and to develop principles for predicting.

Materials and research methods. We examined 138 children aged 3 to 7 years with cerebral palsy, which were divided into 3 groups: 1st main 70 children with SE; 2nd comparison group – 38 patients with cerebral palsy without SE, 3rd control group – 30 healthy children. The subject of the study is venous blood serum.

Results and its discussion. We found that, compared with the control, in children with cerebral palsy, the proportion of homozygous types of the Hp1-1 and Hp2-2 phenotypes increases, against the background of a noticeable decrease – heterozygous – Hp 2-1. The Hp2-2 phenotype is a risk factor for the development of such severe forms of cerebral palsy as double hemiplegia and atonic-astatic form. The Hp1-2 phenotype was more often detected in double hemiplegia and hyperkinetic form. In our opinion, the presence of the Hp2-1 phenotype in children is favorable for the formation of a healthy generation. We did not reveal a definite dependence of the frequency of occurrence of haptoglobin phenotypes on the presence or absence of SE, age, mental retardation.

Conclusion. We found that the risk of developing one or another form of cerebral palsy depends on the phenotypic characteristics of haptoglobin. It has been established that the Hp2-2 phenotype is a risk factor for the development of severe forms of cerebral palsy; double hemiplegia and atonic-astatic form. Children with cerebral palsy are often exposed to various diseases, which often lead to their death. To prevent these conditions in frequently sick children, the content of haptoglobin should be determined for timely treatment.

Key words: cerebral palsy; symptomatic epilepsy; genetic predisposition; haptoglobin.

First page

553

Last page

559

For citation: Artykova Mavlyuda Abduraxmanovna, Yuldashev Murod Zaripovich. – GENETIC ASPECTS OF THE DEVELOPMENT OF CHILD CEREBRAL PALSY AND SYMPTOMATIC EPILEPSY //New Day in Medicine 4(54)2023 553-559 https://newdaymedicine.com/index.php/2023/04/30/l-15/

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