juvenile absence epilepsy 1

Juvenile Absence Epilepsy (JAE) Description

Juvenile absence epilepsy (JAE) is a genetic epilepsy syndrome that typically begins in older children and teenagers, around puberty age [3]. It is characterized by sporadic occurrence of absence seizures, which cause a brief loss of awareness [12].

The main seizure type in JAE is absence seizures, which can last only a few seconds. During an absence seizure, the child may stare blankly into space, blink quickly, or move their hands [4]. These seizures are usually well-controlled with anti-seizure medication.

In addition to absence seizures, people with JAE often experience generalized tonic-clonic seizures (GTCS), which can occur sporadically throughout life. Myoclonic jerks may also be present in some cases [8].

JAE is a relatively common type of epilepsy, affecting females more often than males. A family history of seizures is also more commonly seen in individuals with JAE compared to other epilepsy syndromes [5].

Juvenile Absence Epilepsy (JAE) Signs and Symptoms

Juvenile absence epilepsy (JAE) is a type of epilepsy that affects adolescents and young adults, characterized by brief, sudden lapses of consciousness known as absence seizures. The symptoms of JAE can be subtle and may not always be immediately apparent.

Common Symptoms:

• Brief staring spells or "blank stares" [3]
• Loss of awareness or responsiveness [2]
• Complete stop in activity during the seizure, such as talking or walking [4]
• Occasional eyelid fluttering or nodding of the head or other automatic hand or mouth movements, like lip smacking [4]
• Being very still or stiffening of the body [8]
• Smacking the lips or making a chewing motion with the mouth [8]

Other Possible Symptoms:

• Sudden loss of awareness or responsiveness [9]
• Stopping talking or what they are doing, and staring blankly into space [9]
• Not responding to people talking to them or gently touching them [9]

It's essential to note that these symptoms can be mistaken for daydreaming or not paying attention. However, if your child is experiencing frequent or recurring episodes of absence seizures, it's crucial to consult a healthcare professional for proper diagnosis and treatment.

References: [2] - Context 1 [3] - Context 3 [4] - Context 4 [8] - Context 8 [9] - Context 9

Diagnostic Tests for Juvenile Absence Epilepsy

Juvenile absence epilepsy (JAE) can be diagnosed through various tests that help confirm the presence of absence seizures and rule out other conditions. Here are some of the diagnostic tests used to diagnose JAE:

• Electroencephalogram (EEG): An EEG is a crucial test for diagnosing JAE. It measures the electrical activity in the brain and can detect the characteristic 3-4 Hz spike-and-wave discharges associated with absence seizures [6][7]. The EEG is usually performed while the child is awake and during sleep to confirm the diagnosis.
• Magnetic Resonance Imaging (MRI) or Computed Tomography (CT) scan: These imaging tests are used to rule out other conditions that may be causing the seizures, such as abnormalities in the brain [8][9].
• Clinical evaluation: A thorough clinical evaluation is also essential for diagnosing JAE. This includes a detailed medical history, physical examination, and assessment of the child's symptoms and behavior.

Key Findings

The key findings in children with JAE include:

• Absence seizures that occur less than once per day [11]
• Seizures typically start at 12-17 years of age [11]
• EEG showing a 3-4 Hz spike-and-wave discharge [6][7]

These diagnostic tests and key findings can help healthcare professionals diagnose juvenile absence epilepsy accurately.

References:

[6] Context result 6 [7] Context result 6 [8] Context result 8 [9] Context result 9 [11] Context result 11

Treatment Options for Juvenile Absence Epilepsy

Juvenile absence epilepsy (JAE) is a type of epilepsy that typically affects children and adolescents. The treatment options for JAE are aimed at controlling seizures and improving the quality of life for affected individuals.

• Sodium Valproate: This medication is often considered the first-line treatment for JAE, as it has been shown to be effective in reducing seizure frequency (2).
• Lamotrigine: Another commonly used medication for JAE, lamotrigine may be preferred over other options due to its efficacy and tolerability (3).
• Ethosuximide: Although not typically used on its own for JAE, ethosuximide can be effective in combination with other medications or as a second-line treatment option (2).

It's essential to note that the choice of medication may depend on individual factors, such as seizure type and frequency, patient age, and potential side effects. A healthcare professional will work with the family to determine the best course of treatment for each child.

References: [1] Not applicable [2] Context 2: Treatments for juvenile absence epilepsy · Sodium valproate · Lamotrigine · Ethosuximide – this medicine isn't often used on its own for JAE as it doesn't stop the ... [3] by S Yadala · 2022 · Cited by 4 — Therefore lamotrigine may be the preferred agent in this group of patients.

Juvenile absence epilepsy (JAE) can be challenging to diagnose, and differential diagnosis is crucial to rule out other conditions that may present with similar symptoms. Here are some key points to consider:

• Childhood absence epilepsy (CAE): This is a common form of pediatric epilepsy that shares similarities with JAE. However, CAE typically starts before the age of 10, whereas JAE usually begins after the age of 10 [6].
• Juvenile myoclonic epilepsy (JME): JME can be distinguished from JAE by the presence of myoclonic seizures, which are not a characteristic feature of JAE [7]. In contrast, JAE is characterized by absence seizures and generalized tonic-clonic seizures.
• Focal seizures with impaired cognition: These types of seizures can sometimes be difficult to distinguish from absence seizures on a purely clinical basis. However, focal seizures tend to be longer in duration (more than 30 seconds) and occur less frequently than absence seizures [4].
• Other differential diagnoses: Breath-holding spells, staring spells, daydreaming, migraine equivalents, panic attacks, and anxiety disorders can all present with similar symptoms to JAE. A thorough evaluation is necessary to rule out these conditions [9].

It's essential to consider these differential diagnoses when evaluating patients for juvenile absence epilepsy. A comprehensive diagnostic workup, including electroencephalography (EEG) findings and clinical assessment, can help differentiate JAE from other conditions.

References:

[4] - The differential diagnosis of juvenile absence epilepsy from focal seizures with impaired cognition can sometimes be difficult on a purely clinical basis. [6] - JAE: usually after age 10 years · CAE: usually before age 10 years, most often between 5 and 8 years of age. [7] - Juvenile myoclonic epilepsy - the presence of myoclonic seizures distinguishes juvenile absence epilepsy from this syndrome; Childhood absence epilepsy ... [9] - Breath-holding spells are another differential. Staring spells, daydreaming, migraine equivalents, and panic and/or anxiety attacks all may be ...