Anthropogenetic Variability in the Group of Individuals With Febrile Seizures

Institut za Rehabilitaciju Sokobanjska Beograd

Status: Completed

Conditions: Febrile Seizure

Treatments: Genetic: HRC-test

Study type: Observational

Funder types: Other

Identifiers

NCT03481764

Sbcprn

Details and patient eligibility

About

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.

Full description

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.

The development of epilepsy after FS moves around 3%, after simple febrile seizure (SFS) the risk is around 2% whereas after complex febrile seizure (CFS) it is about 2 to 3%. Around 13% of epilepsy patients have experienced FS once. Prolonged FS can lead to mesial temporal sclerosis and to temporal lobe epilepsy, but the level of risk is still uncertain.

The research shows that abnormal neurological development before the FS, the occurrences of a febrile seizures among relatives, as well as the CFS, represent risk factors for emergence of epilepsy after the FS.

Since FS are genetically controlled, it is presumed that increased homozygosity and decreased variability in patients can be in correlation with the expression of FS.

The determination of the presence of homozygous-recessive characteristics (HRC) in individuals with FS provides an insight whether the prevalence of homozygous or heterozygous loci on different chromosomes exists. The number of homozygous recessive traits represent one type of indicator of the homologous chromosomal homozygosity, which can vary significantly both at the individual, as well as at the group level.

Enrollment: 150 patients

Sex: All

Ages: 5 to 14 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Our research has involved patient with diagnosed Febrile Seizure which were hospitalized or recieved ambulatory treatment in University Children´s Hospital in Belgrade.

Exclusion criteria

• Patients with evidence of intracranial infections
• Patients with incomplited medical documentation

Trial design

150 participants in 6 patient groups

FS: Febrile Seizures

Description:

Involved patient with diagnosed Febrile Seizures which were hospitalized or recieved ambulatory treatment in University Children´s Hospital in Belgrade. Ages 5-14 years

Treatment:

Genetic: HRC-test

CN: Control group

Description:

The control group was made of healthy children older than 5 years of age, which have never had any neurological disorders in their anamnesis and who were patients in preschool or school dispensaries in the city of Belgrade

Treatment:

Genetic: HRC-test

SFS : group of individuals with simple FS

Description:

Simplex febrile seizures (SFS) last shorter than 15 minutes and their type is tonic-clonic. Also, they did not show signs of recidivism during the first 24 hours and were diagnosed at the patients aged from 6th months to 5th year

Treatment:

Genetic: HRC-test

CFS : group of individuals with complex FS

Description:

Complex febrile seizures (CFS) were diagnosed at those patients that had focal seizure or epileptic status or seizure having the body temperature lower than 38 degree, which occurred outside of the typical age group and finally which repeated in the first 24 hours again

Treatment:

Genetic: HRC-test

WFS: group of individuals with FS and without epilepsia

Description:

group of children with Febrile Seizure and not developed epilepsia

Treatment:

Genetic: HRC-test

EFS: group of individuals with epilepsia and Febrile Seizures

Description:

Group of children with Febrile Seizures, who have developed Epilepsy

Treatment:

Genetic: HRC-test