familial febrile seizures 5

Familial Febrile Seizures: What You Need to Know

Children up to age six may be at risk of febrile seizures if present in the family history [5]. This means that if there is a history of febrile seizures in your family, your child may also be more likely to experience them.

Causes and Symptoms

Febrile seizures are full-body convulsions caused by high fevers that affect young kids. They can be frightening, but usually stop on their own [7]. During a febrile seizure, the child's body becomes stiff, they lose consciousness, and their arms and legs twitch. Some children may wet themselves during this time [8].

Risk Factors

If you have a family history of febrile seizures, your child is more likely to experience them. This is especially true if there are multiple members in your family who have had febrile seizures.

References: [5] - Children up to age six may be at risk of febrile seizures if present in the family history. [7] - Febrile seizures are full-body convulsions caused by high fevers that affect young kids. [8] - During a febrile seizure, the child's body usually becomes stiff, they lose consciousness and their arms and legs twitch.

Signs and Symptoms of Febrile Seizures

Febrile seizures can be a frightening experience for parents, but they are usually harmless and do not indicate a serious health problem. The signs and symptoms of febrile seizures may include:

• Convulsions or rhythmic twitching or movement: This is the most common symptom of febrile seizures, where the child's body may convulse, shake, or twitch all over.
• Rolling eyes: Some children may roll their eyes during a febrile seizure.
• Moaning: Children may make moaning sounds during a febrile seizure.
• Loss of consciousness: The child may become unconscious (pass out) for a short period.
• Vomiting or urination: In some cases, the child may vomit or urinate involuntarily.

These symptoms are usually accompanied by a fever above 101°F (38.3°C). Most febrile seizures last only a few minutes and do not cause any long-term health problems.

References:

• [5] Simple febrile seizure: The seizure lasts fewer than 15 minutes. It usually causes a loss of consciousness and uncontrollable movements. Your child only has one seizure in 24 hours.
• [9] Most febrile seizures cause convulsions or rhythmic twitching or movement in the face, arms, or legs that lasts less than one to two minutes.
• [13] A child having a febrile seizure may: Have a fever higher than 100.4 F (38.0 C) Shake all over; Twitch or jerk their limbs

Diagnostic Tests for Familial Febrile Seizures

Familial febrile seizures, also known as Generalized Epilepsy with Febrile Seizures Plus (GEFS+), can be diagnosed through a combination of clinical evaluation and genetic testing.

• Clinical Evaluation: A healthcare provider will review the child's medical history and perform a physical exam to assess for any underlying conditions that may be contributing to the febrile seizures. [4]
• Genetic Testing: Genetic testing, such as blood or cheek swab analysis, can be performed to identify genetic mutations associated with GEFS+. This test is usually recommended if there is a family history of epilepsy or if the child has experienced recurrent febrile seizures. [5]

Recommended Diagnostic Tests

The following tests are not routinely recommended for diagnosing familial febrile seizures:

• Complete blood count (CBC)
• Measurement of serum electrolyte, calcium, phosphorus
• Neuroimaging studies (e.g., CT or MRI scans)

However, if the child has a delayed vaccination schedule or a compromised immune system, additional tests may be recommended to rule out severe infections. [12]

Genetic Epilepsy with Febrile Seizures Plus Spectrum (GEFS+)

GEFS+ is a familial syndrome characterized by febrile seizures that occur beyond the normal age range. It can also lead to other types of seizures unrelated to fever. The International League Against Epilepsy (ILAE) Diagnostic Manual provides guidance on diagnosing GEFS+. [10]

References

• [4] Nov 22, 2024 — To diagnose a febrile seizure, a healthcare provider will review a child's medical history and do a physical exam.
• [5] Dec 22, 2020 — If done, genetic testing could be performed on blood or a cheek swab. Your doctor may send either an epilepsy panel or whole exome sequencing.
• [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, also known as Generalized Epilepsy with Febrile Seizures Plus (GEFS+), are a type of epilepsy syndrome that can be inherited. While there is no cure for GEFS+, various treatment options are available to manage the condition and prevent future seizures.

• Antiepileptic drugs: These medications, such as phenytoin, phenobarbitone, valproate, diclofenac, acetaminophen, and ibuprofen, can be used to control seizures in individuals with GEFS+ [3][4].
• Prophylactic medications: In some cases, antiepileptic drugs may be prescribed as a preventive measure to reduce the risk of future seizures [5].
• Fever management: Medications like acetaminophen (Children's Tylenol) or ibuprofen (Children's Motrin or Advil) can help lower fever and prevent febrile seizures [6][7].

It is essential to note that the decision to use antiepileptic drugs or other treatments should be made in consultation with a healthcare professional, as they can have side effects and interact with other medications.

References:

[3] Specific drugs included the benzodiazepines (diazepam, lorazepam, clobazam and midazolam), phenytoin, phenobarbitone, valproate, diclofenac, acetaminophen and ... [Source: 3]

[4] We included trials that compared one treatment with another or with placebo (or no treatment) in children with febrile seizures. Specific drugs included the benzodiazepines (diazepam, lorazepam, clobazam, and midazolam), phenytoin, phenobarbital, valproate, diclofenac, paracetamol, and ibuprofen. [Source: 4]

[5] Antipyretic therapy. Supportive therapy if seizures last < 5 minutes. Antiseizure medications and sometimes intubation if seizures last ≥ 5 minutes. All children require antipyretic therapy because lowering the temperature can help prevent another febrile seizure during the immediate illness and makes it easier to stop febrile status epilepticus. However, giving an antipyretic at the ... [Source: 14]

[6] Febrile seizures are the most common neurological disorder in pediatric age. FS affect 2% to 12% of children and result from a complex interplay of genetic and environmental factors. ... the first group received the drug at the onset of fever, ... Febrile seizures: treatment and prognosis. Epilepsia. 2000; 41:2-9. Crossref. PubMed. Google ... [Source: 15]

Differential Diagnoses for Familial Febrile Seizures

Familial febrile seizures can be challenging to diagnose, and it's essential to consider various differential diagnoses to rule out other conditions. Some of the key differential diagnoses include:

• Self-limited familial infantile seizures: This condition is caused by pathogenic variants in the PRRT2 gene and typically presents with febrile seizures in infancy.
• Classic glucose transporter type 1 deficiency syndrome: This rare genetic disorder can cause febrile seizures, among other symptoms. It's essential to consider this diagnosis if there are signs of metabolic dysfunction or developmental delays.

According to [5], these conditions should be considered as part of the differential diagnosis for familial febrile seizures. It's crucial to conduct a thorough medical evaluation and consider genetic testing to rule out these conditions.

References:

• [5] Differential diagnoses include self-limited familial infantile seizures due to PRRT2 pathogenic variants, classic glucose transporter type 1 deficiency syndrome ...