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Section 7. Medical science
Aminova Dildora, Tashkent Institute for Pediatric Medicine, Neurology department, Tashkent, Uzbekistan.
E-mail: [email protected]
Genealogical characteristics of children with epileptic encephalopathy and symptomatic epilepsy
Abstract: The results of evaluation of the genealogical characteristics of children with epileptic encephalopathy and symptomatic epilepsy with different etiologies.
The results showed that the genealogical analysis of children with epileptic encephalopathy revealed a high proportion of epilepsy in families. Moreover, the family history was similar to his father's side, and from the mother's side. However, most recorded epilepsy proband degree relatives II, affinity compared to other family members. Decrease the frequency of epilepsy in relatives from distant degree of kinship of the proband may indicate the multifactorial nature of the disease. The risk of disease was higher in cases where the epilepsy suffered the father or mother of a proband. Among parents of probands had a higher frequency of consanguineous marriages, compared with the prevalence of inbreeding in the population of Uzbekistan, which is also one of the possible indicators of the multifactorial nature of epileptic encephalopathy.
Keywords: Children, epileptic encephalopathy, symptomatic epilepsy, genetics.
Introduction
Epilepsy — one of the most urgent problems in pediatric neurology. The frequency of epilepsy in the pediatric population is 0.5-0.75% of the child population [5]. According to WHO, about 50 million people worldwide have epilepsy, about 90% of people with epilepsy live in developing regions, about 70% of cases, epilepsy can be treated, however, about three-quarters suffering from the disease of people in developing countries do not receive the necessary for their treatment.
The origins of the different forms of epilepsy are essential family history, exposure to exogenous and organic brain damage. The study of genetic factors in epilepsy is of great scientific and practical interest.
Scientific views in the area of inheritance of epilepsy developed in diametrically opposite directions: from total denial of the role of heredity in the genesis of epilepsy, epilepsy recognition to genetically determined disease.
Most researchers the role of hereditary factors in the occurrence of epilepsy is not denied, but is regarded as a predisposing moment [9]. Most studies have shown that the risk of epilepsy in patients with epilepsy progeny of 3-4%, which is 2.4 times higher than the general population [7].
The development of hereditary diseases due to the action of the mutant gene is transmitted in the family from generation to generation. When the family illness recurrence of a disease in family members is usually the result of the influence of the environment. The term "family" is used also in cases where it is not known whether the disease is genetically determined, or it is due to other causes.
Currently, clinical genetics has a range of information methods to identify patterns typical of hereditary diseases.
In clinical therapy used genealogy, mathematical-statistical methods and caryological genetic analysis. The main objective of the genealogical method is to study the nature of the distribution of hereditary traits in the family. This is achieved by drawing up family trees on which solved the question of the frequency of a disease, particularly its transfer.
Genealogical lineages analysis provides the basis for genetic counseling, that is, address the issue of the risk of birth of sick family, burdened with hereditary diseases [6].
In compiling pedigrees use special characters. In drawing up the tables pedigrees in several steps. First of all, it is the so-called
"legend", held initial collection of family history. Once the pedigree carried genealogical analysis.
Pedigree patients with epilepsy are often full of families, pheno-typically similar, but not identical conditions. This indicates instability of the functional state of the brain that allows some authors to conclude that the genetic predisposition that makes a special condition of the brain — "paroxysmal brain" (for AM Wayne).
In the diagnosis of epilepsy has a family history of importance. In the history of states not hurt anyone any member of the family with epilepsy. In addition, it noted there if a family illness so-called epileptic circle. These include migraine attacks, sleepwalking, binge drinking, bedwetting, stuttering, and others. It is also important to consider changes in the epileptic nature of the parents and relatives of the patient.
The aim of this study was to determine genealogical characteristics of children with epileptic encephalopathy and symptomatic epilepsy.
Materials and methods
We observed 69 children with epileptic encephalopathy (group 1) and 50 children with symptomatic epilepsy (group 2). All patients of similar age from 2 to 14 years. The control group consisted of 20 healthy children.
Genealogical method surveyed 240 family of I degree relatives (parents, siblings) of children with epileptic encephalopathy and symptomatic epilepsy. Compiled detailed pedigree, which included information about the diseases in 3 generations of a family. The genetic material was collected on both parent lines by cross-survey of both parents and sometimes grandparents.
Results of the study
Total analyzed in the model population 867 people. The data obtained are compared with a generalized response to family 20 healthy people 310 people analyzed in the model population.
The number of family members who have epilepsy observed in 31 pedigree was 234 in children with symptomatic epilepsy and epileptic encephalopathy — was 22.
According to the results of our research in 3 (9,67 ± 5,31%) pedigrees revealed 2 cases of symptomatic epilepsy in 26 (83,87 ± 6,6%) marked by heavy burdened family (up to 3 patients and more). In determining the epileptic encephalopathy revealed that 6 (19,35 ± 7,1%) cases of epilepsy was observed in one member of the pedigree, 4 (12,90 ± 6,0%) pedigrees revealed 2 cases and 1
Genealogical characteristics of children with epileptic encephalopathy and symptomatic epilepsy
(3, 22 ± 3,2%) marked by heavy burdened family (up to 3 patients and more).
The families of probands symptomatic epilepsy in generations in relation to the total number of patients for each concentration of III-1,05%; II- 0,38%; I- 0,25%, and in epileptic encephalopathy: III-0,13%; II- 2,92%; I- 1,21%. Weighed down in a population ofhealthy individuals there was significantly less: III- 0%; II- 0,32%; I- 0%.
To illustrate, give the following observation: pedigree Omonkulova R. 5 years. Diagnosis: Epileptic Encephalopathy 2 diabetes. From the pedigree is evident that the patient has a family history of the parents: paternal — aunt of the proband (II, 2) epilepsy, and her grandmother's brother (I, 3) and the father of the proband — symptomatic epilepsy, maternal aunt and grandfather (I, 2) proband also had epilepsy, also have a brother and sister of the proband were observed spasmodic paroxysms.
Given that the prevalence of blood-related marriages among the Uzbek population reaches 10.5% [5], we analyzed the inbreeding among relatives of children suffering from epileptic encephalopathy. The main type of consanguineous marriages — a marriage between cousins, siblings, long-distance relationship is not uncommon.
The frequency of consanguineous marriages could even higher, as some families are distantly related, not know about it. The pres-
ence of blood marriages were detected in 17 (24,6 ± 9,6%) cases from families of probands with epileptic encephalopathy.
Thus, in 7 families, parents were first cousins (10,1 ± 6,1%), in 4 families — parents were uncle and niece (5,8 ± 2,2%). In 6 families, parents were distant relatives (8,7 ± 4,8%).
In the control group, consisting of 20 families found a family in which the father and mother were distant relatives (5,0 ± 4,9%).
Conclusion
The results showed that the genealogical analysis of children with epileptic encephalopathy revealed a high proportion of epilepsy in families. Moreover, the family history was similar to his father's side, and from the mother's side. However, most recorded epilepsy proband degree relatives II (2.92%), affinity compared to other family members. Decrease the frequency of epilepsy in relatives from distant degree of kinship of the proband may indicate the multifactorial nature of the disease. The risk of disease was higher in cases where the epilepsy suffered the father or mother of a proband. Among parents of probands had a higher frequency of consanguineous marriages, compared with the prevalence of inbreeding in the population of Uzbekistan, which is also one of the possible indicators of the multifactorial nature of epileptic encephalopathy.
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