Anthropogenetic Variability in the Group of Individuals With Febrile Seizures - Population Genetic Study
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 150
- 试验地点
- 1
- 主要终点
- To establish the degree of genetic homozygosity and variability in subjects with Febrile Seizure and control group
研究概览
简要总结
Febrile seizures(FS) are the most common neurological disorder in chilhood and are a great stress for parents due to their dramatic clinical appearance.
Using HRC-test(test for determination of homozygously recessive characteristics in humans) we analyzed presence, distribution, and individual combination of 20 selected genetically controlled morpho-physiological traits among FS patients and control to determine a possible deviation in the homozygosity level and genetic loads in the group of affected children and whether there is a predisposition to the occurrence of FS.
详细描述
Febrile seizures(FS) are one of the most common neurological disorders in children and infants. It is estimated that 2-5% of children younger than 5 years of age experience at least one epileptic seizure during the period of febrile seizure.
FS, as defined by the American Academy of Pediatrics (AAP), are " seizure occurring in febrile children between the ages of 6 and 60 months who do not have an intracranial infection, metabolic disturbance, or history of afebrile seizures ".
The diagnosis of FS is based on physical examination and anamnesis taken from the gardian, aiming primarily to detect the real cause that led to a FS.
The etiology of FS is complex and it is still the subject of numerous studies and research done in the field. However, there is strong evidence showing that heterogeneous genetic predisposition interacting with various risk factors can lead to a FS.
There are several risk factors mentioned in literature which can cause the first FS. One of the most important is positive family history of FS (especially among the closest relatives) . Other possible factors include: high body temperature (the higher level of body temperature increases the risk of a seizure occurrence), preexisting neurodevelopment delay , neonatal care longer that 28 days.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 5 Years 至 14 Years（Child）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Our research has involved patient with diagnosed Febrile Seizure which were hospitalized or recieved ambulatory treatment in University Children´s Hospital in Belgrade.
排除标准
- •Patients with evidence of intracranial infections
- •Patients with incomplited medical documentation
结局指标
主要结局
To establish the degree of genetic homozygosity and variability in subjects with Febrile Seizure and control group
时间窗: 2 years
Using HRC-test (test for determination of homozygously recessive characteristics in humans) we will analyzed presence, distribution, and individual combination of 20 selected genetically controlled morpho-physiological traits among FS patients and control to determine a possible deviation in the homozygosity level and genetic loads in the group of affected children and whether there is a predisposition to the occurrence of FS.
次要结局
- Establish a correlation between the degree of genetic homozygosity and variability between subjects with SFS and CFS, also WFS and EFS(2 years)
研究者
Tamara Filipovic
Principal Investigator
Institut za Rehabilitaciju Sokobanjska Beograd