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Anthropogenetic Variability in the Group of Individuals With Febrile Seizures

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ClinicalTrials.gov Identifier: NCT03481764
Recruitment Status : Recruiting
First Posted : March 29, 2018
Last Update Posted : March 29, 2018
Sponsor:
Information provided by (Responsible Party):
Tamara Filipovic, Institut za Rehabilitaciju Sokobanjska Beograd

Brief 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.


Condition or disease Intervention/treatment
Febrile Seizure Genetic: HRC-test

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 (Lux 2010; Mewasingh 2014).

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 " (Steering Committee on Quality Improvement and Management 2008).

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 (Khair et al. 2015; Kimia et al. 2015).

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 (Haerian et al. 2016; Ram et al. 2015).

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) (Hampers et al. 2011). Other possible factors include: high body temperature (the higher level of body temperature increases the risk of a seizure occurrence) (Gontko-Romanowska et al.2017), preexisting neurodevelopment delay (Seinfeld 2016), neonatal care longer that 28 days (Bethune et al. 1993).

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% (Camfield et al. 2015). 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 (Camfield et al. 2015).

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 (Seinfeld et al. 2016).

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 (Cvjeticanin et al. 2009; Marinkovic et al.2007; Marinković et al. 2013; Nikolic et al. 2012).


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Study Type : Observational
Estimated Enrollment : 130 participants
Observational Model: Case-Control
Time Perspective: Retrospective
Official Title: Anthropogenetic Variability in the Group of Individuals With Febrile Seizures Population Genetic Study
Actual Study Start Date : September 2015
Estimated Primary Completion Date : April 2018
Estimated Study Completion Date : May 2018

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Fever Seizures

Group/Cohort Intervention/treatment
FS: Febrile Seizures
Involved patient with diagnosed Febrile Seizures which were hospitalized or recieved ambulatory treatment in University Children´s Hospital in Belgrade. Ages 5-14 years
Genetic: HRC-test
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.

CN: Control group
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
Genetic: HRC-test
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.

SFS : group of individuals with simple FS
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
Genetic: HRC-test
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.

CFS : group of individuals with complex FS
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
Genetic: HRC-test
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.

WFS: group of individuals with FS and without epilepsia
group of children with Febrile Seizure and not developed epilepsia
Genetic: HRC-test
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.

EFS: group of individuals with epilepsia and Febrile Seizures
Group of children with Febrile Seizures, who have developed Epilepsy
Genetic: HRC-test
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.




Primary Outcome Measures :
  1. To establish the degree of genetic homozygosity and variability in subjects with Febrile Seizure and control group [ Time Frame: 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.


Secondary Outcome Measures :
  1. Establish a correlation between the degree of genetic homozygosity and variability between subjects with SFS and CFS, also WFS and EFS [ Time Frame: 2 years ]
    The results of HRC test shows a degree of genetic homozygosity as well as the level of possible genetic loads what may indicate to the presence of genetic problems which further affect the capacity of normal development, with the possibility for more extreme cases to develop specific properties including increased or desreased resistance to certain types of illness



Information from the National Library of Medicine

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Ages Eligible for Study:   5 Years to 14 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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)
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03481764


Contacts
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Contact: Sanja Dimitrijevic, MD +381640667466 sanjapusica@yahoo.com
Contact: Aleksandra Pusica, MD +381656437472 aleksandra.pusica29@gmail.com

Locations
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Serbia
Sanja Dimitrijevic Recruiting
Belgrade, Serbia, 11000
Contact: Sanja Dimitrijevic, MD    +381640667466    sanjapusica@yahoo.com   
Contact: Aleksandra Dimitrijevic, MD    +381656437472    aleksandra.pusica29@gmail.com   
Sponsors and Collaborators
Institut za Rehabilitaciju Sokobanjska Beograd

Publications:
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Responsible Party: Tamara Filipovic, Sanja Dimitrijević, Institut za Rehabilitaciju Sokobanjska Beograd
ClinicalTrials.gov Identifier: NCT03481764     History of Changes
Other Study ID Numbers: Sbcprn
First Posted: March 29, 2018    Key Record Dates
Last Update Posted: March 29, 2018
Last Verified: March 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Supporting Materials: Study Protocol
Statistical Analysis Plan (SAP)
Informed Consent Form (ICF)
Clinical Study Report (CSR)

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Tamara Filipovic, Institut za Rehabilitaciju Sokobanjska Beograd:
febrile seizure
HRC-test
genetic variation
epilepsy

Additional relevant MeSH terms:
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Seizures
Fever
Seizures, Febrile
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Body Temperature Changes