Anthropogenetic Variability in the Group of Individuals With Febrile Seizures
Condition: Febrile Seizure
MeSH terms: Seizures; Seizures, Febrile; Hyperthermia; Fever
Study type: Observational

Summary: 
      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.
    

Detailed 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.
    

Intervention name(s): HRC-test
Intervention type(s): Genetic
Intervention description(s): Using HRC-test we analyze 20 selected genetically controlled morphophysiological traits among FS children and control.Homozygous-recessive traits in the region of human head are: attached ear lobe,continuous frontal hair line,blue eyes straight hair,soft hair and blond hair,double hair whorl,hair whorl orientation-opposite from clock-wise,as well as an inability to roll,fold and curve the tongue,a guttural "r and Daltonism.HRC trait expressed in human arms and legs, such as distal or proximal hyper-extensibility of the thumb,index finger shorter than the ring finger,left-handedness, hand clasping pattern.In order to achieve high level of objectivity during the process of data gathering, the same person conducting all testing.Inside the group of charcteristics which show high level of variability,only the extreme phenotypes were considered recessive.For the purpose of testing the color blindness in examinees,the Pseudoisochromatic plates test was used.
Observational model: Case-Control
Time perspective: Retrospective
Sampling method: Probability Sample
Study population: 
        The Febrile Seizure affected children as well as the individuals from the control group
        were members of the same population (Serbian)
      
Keywords: febrile seizure; HRC-test; genetic variation; epilepsy