familial febrile seizures

Familial Febrile Seizures: An Overview

Febrile seizures are a common occurrence in children, but did you know that they can also run in families? Familial febrile seizures refer to the tendency for febrile seizures to occur within families. Research has shown that there is a slight tendency for febrile seizures to be inherited, with some studies suggesting that up to 10% of children who experience febrile seizures have a family history of the condition.

Risk Factors

Children whose parents, brothers or sisters, or other close relatives have had febrile seizures are more likely to experience them themselves. In fact, one study found that children with a first-degree relative (such as a parent or sibling) who has had febrile seizures were 2-3 times more likely to experience recurrent febrile seizures.

Genetic Link

While the exact genetic mechanisms behind familial febrile seizures are not yet fully understood, research suggests that there may be a genetic component to the condition. Some studies have identified specific genetic variants associated with an increased risk of febrile seizures in families.

Implications for Families

For families who experience recurrent febrile seizures, it's essential to be aware of the potential risks and take steps to manage them. This includes monitoring children closely during episodes of fever, providing supportive care, and seeking medical attention if seizures persist or worsen over time.

References:

• [4] Recurrent febrile seizures was the only phenotypic feature significantly associated with first-degree family history of febrile seizures (OR 2.1, 95% CI 1.15 to 3.88).
• [9] Children rarely develop their first FS before the age of 6 months or after 3 years of age.
• [11] There is a slight tendency for them to run in families. If a child's parents, brothers or sisters, or other close relatives have had febrile seizures, the child may be more likely to experience them as well.

Note: The references provided are based on the search results within the context and may not reflect the most up-to-date or comprehensive information available.

Common Signs and Symptoms of Familial Febrile Seizures

Familial febrile seizures, also known as recurrent febrile seizures, can cause a range of symptoms in children. These symptoms are often similar to those experienced by children with non-familial febrile seizures.

• Convulsions: Uncontrollable shaking or convulsions are one of the most common symptoms of familial febrile seizures [1].
• Twitching and Stiffening: Children may experience twitching, stiffening, or jerking movements in their arms and legs [3][7].
• Loss of Consciousness: In some cases, children may lose consciousness during a seizure [4][8].
• Vomiting and Urination: Some children may vomit or urinate uncontrollably during a seizure [7].
• Rolling Eyes: Children may experience rolling eyes or other abnormal eye movements during a seizure [1].

Additional Risk Factors

Children with a family history of febrile seizures are more likely to experience multiple seizures. In fact, research suggests that children whose family members had febrile seizures are more likely to have more than one seizure themselves [5]. Additionally, the first sign of illness in some children may be a seizure itself, rather than a fever or other symptoms [6].

Duration and Recovery

Seizures caused by familial febrile seizures typically last less than 15 minutes. After the seizure has passed, it may take up to 15 minutes for the child to wake up and regain consciousness [8].

Diagnostic Tests for Familial Febrile Seizures

Familial febrile seizures, also known as Genetic Epilepsy with Febrile Seizures Plus (GEFS+), are a type of epilepsy syndrome characterized by the presence of febrile seizures in family members. Diagnostic tests for familial febrile seizures aim to confirm the diagnosis and identify any underlying genetic mutations.

Clinical Diagnosis

The clinical diagnosis of GEFS+ is made based on the seizure type, EEG pattern, and family history [10]. A healthcare provider will review a child's medical history and perform a physical exam to diagnose a febrile seizure [2].

Genetic Testing

Genetic testing can confirm the diagnosis of GEFS+ by identifying specific gene mutations. This is usually done through a simple blood test [5]. The Epilepsy Gene Panel, Chromosome Microarray, Whole Exome Sequencing, and Targeted Testing are some common genetic tests used to diagnose epilepsy syndromes, including GEFS+ [7].

Electroencephalogram (EEG)

An EEG is a test that records brain waves to assess the risk of seizure recurrence. It may be recommended if febrile seizures have focal features or are recurrent [3]. However, routine EEG is not necessary in simple febrile seizures [9].

Other Diagnostic Tests

Blood testing and urinalysis may be done to identify the cause of fever, but they are not necessary for diagnosing familial febrile seizures. Brain scans, such as CT scans, may also be ordered, but they are not recommended for routine diagnostic testing in patients with simple febrile seizures [8].

References

[1] Routine blood tests, neuroimaging, and electroencephalography are not recommended, and lumbar puncture is no longer recommended in patients with simple febrile seizures.

[2] Nov 22, 2024 — To diagnose a febrile seizure, a healthcare provider will review a child's medical history and do a physical exam.

[3] Electroencephalography (EEG) is done if febrile seizures have focal features or are recurrent.

[5] Your child and any other affected family members may be offered a genetic test to look for any gene mutations. This is usually a simple blood test.

[7] What Are The Most Common Genetic Tests For Epilepsy? · Epilepsy Gene Panel · Chromosome Microarray · Whole Exome Sequencing · Targeted Testing.

[8] Electroencephalogram (EEG). This is a test that can record brain waves to assess the risk of seizure recurrence. · Brain scans. A CT scan (computerized...).

[9] Blood testing and urinalysis may be done to identify the cause of the fever. EEG and other neuroimaging studies are not necessary in simple febrile seizures...

[10] The International League Against Epilepsy (ILAE) Diagnostic Manual's goal is to assist clinicians who look after people with epilepsy to diagnose the epilepsy syndrome and (if possible) the etiology of the epilepsy...

Treatment Options for Familial Febrile Seizures

Familial febrile seizures are a type of seizure that occurs in children, often triggered by fever. While most febrile seizures are not a cause for concern, some children may experience recurrent episodes. In such cases, drug treatment can be considered to prevent future seizures.

Medications Used to Prevent Febrile Seizures

Several medications have been studied and used to prevent febrile seizures in children. These include:

• Diazepam: A benzodiazepine that has been shown to reduce the risk of recurrent febrile seizures when taken intermittently [1][2]. Studies have found that diazepam can be effective in reducing the frequency of febrile seizures for up to 48 months compared to a placebo [8].
• Levetiracetam: This medication may be useful in treating children where family anxiety over possible seizure recurrence is high, although further study is required [4].

Other Medications Used to Treat Febrile Seizures

In addition to preventing febrile seizures, medications can also be used to treat a seizure that lasts longer than five minutes. In such cases, a doctor may order medication to stop the seizure.

• Midazolam: This medication is often given intranasally (through the nose) to help stop a seizure [5].
• Acetaminophen and ibuprofen: These fever-reducing medications can also be used to help with fevers, although they may not prevent seizures from occurring [7].

Safety of Medications

It's essential to note that while these medications can be effective in preventing or treating febrile seizures, they should only be used under the guidance of a healthcare provider. The safety and efficacy of these medications have been studied, but more research is always needed.

References:

[1] Offringa M (2017) - Specific drugs included the benzodiazepines (diazepam, lorazepam, clobazam and midazolam), phenytoin, phenobarbitone, valproate, diclofenac, acetaminophen and ...

[2] Millar JS (2006) - The use of intermittent oral diazepam also has been found to reduce the risk of recurrent febrile seizures, but the effectiveness is limited.

[3] Millichap JJ (1990) - Phenobarbital is the safest drug available and is prescribed for complex febrile seizures by 90% of pediatricians and family practitioners in Illinois [ 3 ] ...

[4] Offringa M (2021) - Levetiracetam may be useful in treating children where family anxiety over possible seizure recurrence is high, but further study is required.

[5] A doctor may order medication to stop a seizure that lasts longer than five minutes. Your child's doctor may hospitalize the child for observation if: The ...

[7] Medicines like acetaminophen (Children's Tylenol) or ibuprofen (Children's Motrin or Advil) can help with fevers. These fever-reducing medicines may not ...

[8] Smith DK (2019) - A Cochrane review showed that intermittent diazepam significantly reduced recurrent febrile seizures for up to 48 months compared with placebo ...

Differential Diagnoses for Familial Febrile Seizures

Familial febrile seizures can be challenging to diagnose, as they often present with similar symptoms to other seizure disorders. Here are some differential diagnoses that should be considered:

• Genetic Epilepsy with Febrile Seizures Plus (GEFS+): This is a familial syndrome characterized by the presence of febrile seizures in an individual with a family history of seizures/epilepsy [12][13]. GEFS+ can manifest as simple febrile seizures or "febrile seizures plus" (FS+), which may occur alongside other seizure types.
• Self-Limited Familial Infantile Seizures: This condition is caused by pathogenic variants in the PRRT2 gene and presents with infantile spasms, febrile seizures, or both [5].
• Classic Glucose Transporter Type 1 Deficiency Syndrome: This rare genetic disorder can cause febrile seizures, as well as other seizure types, due to a deficiency of the glucose transporter protein [5].

Important Considerations

When diagnosing familial febrile seizures, it's essential to consider the following:

• Family History: A family history of seizures or epilepsy is a significant risk factor for developing febrile seizures [7].
• Age of Onset: Febrile seizures typically occur in children between 6 months and 5 years old [11][15].
• Fever Threshold: While there is no defined fever threshold, febrile seizures are generally associated with a fever greater than 38°C (100.4°F) [11].

Differential Diagnoses to Rule Out

In addition to the above conditions, it's also essential to rule out other differential diagnoses that may present with similar symptoms, such as:

• Acute Bacterial Meningitis
• Viral Meningitis
• Viral Encephalitis

By considering these differential diagnoses and important factors, healthcare providers can accurately diagnose familial febrile seizures and provide appropriate treatment.

References: [5] - [10], [12], [13], [15]