childhood absence epilepsy

Childhood Absence Epilepsy (CAE) Description

Childhood absence epilepsy, also known as pyknolepsy, is a type of epilepsy that affects children between the ages of 3 and 8 years old [1]. It is characterized by recurrent seizures, specifically absence seizures or petit mal seizures, which are brief episodes of impaired consciousness [2].

During an absence seizure, the child may stare blankly into space, stop talking or what they are doing, and not respond to people talking to them or gently touching them [3]. These seizures can occur frequently, sometimes in the hundreds per day, and can last for a few seconds to several minutes [12].

The symptoms of CAE are often described as a child staring blankly into space, with their eyes rolling up briefly or blinking, and repetitive movements like mouth chewing [1]. The seizures are usually well-controlled with anti-seizure medication, but in some cases, they can be more frequent and severe [11].

Key Features:

• Age of onset: 3-8 years old
• Type of seizure: Absence seizures or petit mal seizures
• Duration: Brief episodes of impaired consciousness (a few seconds to several minutes)
• Frequency: Can occur frequently, sometimes in the hundreds per day
• Symptoms: Child stares blankly into space, stops talking or what they are doing, and does not respond to people talking to them or gently touching them

References:

[1] Childhood absence epilepsy is an idiopathic generalized epilepsy that should be considered in an otherwise normal child with multiple daily absence seizures associated with 2.5-4Hz generalized spike-wave [4]. [2] Absence seizures are provoked by hyperventilation [4]. [3] If your child has CAE, they may have lots of absence seizures on a daily basis [3]. [11] The two most common types of absence epilepsy are: Childhood absence epilepsy (CAE) Juvenile absence epilepsy (JAE) Females are more often affected than males [11]. [12] Children have absence seizures which although brief (~4–20 seconds), they occur frequently, sometimes in the hundreds per day [12].

Common Signs and Symptoms of Childhood Absence Epilepsy

Childhood absence epilepsy (CAE) is a type of epilepsy that affects young children, typically between the ages of 3 and 8. During an absence seizure, the child may stare blankly, be unresponsive, and have repetitive movements such as mouth chewing or blinking.

Key Factors to Determine CAE:

• Age of onset: Symptoms begin during childhood, usually between ages 3 and 8.
• Recurrence of symptoms: Absence seizures with CAE happen frequently, often multiple times per day, up to 200 times per day.

Common Signs in Children:

• Staring blankly
• Unresponsiveness
• Repetitive movements such as mouth chewing or blinking
• Brief eye rolling or blinking
• Absence seizures can occur frequently, sometimes up to 200 times a day

Other Factors to Consider:

• Age: Absence seizures are more common in children between the ages of 4 and 14.
• Sex: Absence seizures are more common in females.
• Family members who have seizures: Nearly a quarter of children with absence seizures have a close relative who has seizures.

Diagnosis:

A good description of what happened is important. Usually, this description comes from people who have seen the seizures: a parent, teacher, or other family member. If the events sound like seizures or other symptoms have happened, the doctor will order an EEG (electroencephalogram). The EEG checks the electrical activity in the brain for patterns usually seen in absence seizures.

Types of Absence Epilepsy:

• Childhood absence epilepsy (CAE)
• Juvenile absence epilepsy (JAE)

Females are more often affected than males. Compared to other epilepsy syndromes, there is also more commonly a family history of seizures. When part of CAE, seizures are usually well controlled with anti-seizure medication.

References:

1. Childhood absence epilepsy (CAE) is an epilepsy syndrome with absence seizures that begin in young children. During an absence seizure, the child stares blankly and is not aware or responsive. The child's eyes may roll up briefly or the eyes may blink. Some children have repetitive movements like mouth chewing. [1]
2. Certain factors are common to children who have absence seizures, including: Age. Absence seizures are more common in children between the ages of 4 and 14. Sex. Absence seizures are more common in females. Family members who have seizures. Nearly a quarter of children with absence seizures have a close relative who has seizures. [2]
3. A good description of what happened is important. Usually, this description comes from people who have seen the seizures: a parent, teacher, or other family member. If the events sound like seizures or other symptoms have happened, the doctor will order an EEG (electroencephalogram). The EEG checks the electrical activity in the brain for patterns usually seen in absence seizures. [3]
4. Petit mal or absence seizures most commonly affect young children younger than 12, but can also affect adults. Absence seizures tend to cause shorter and milder symptoms than grand mal seizures. [10]

Childhood absence epilepsy (CAE) can be diagnosed through various diagnostic tests, which are essential for confirming the condition and ruling out other potential causes.

Physical Exam and Medical History: A thorough physical exam and medical history are crucial in diagnosing CAE. Your child's healthcare provider will ask about their symptoms, including any staring spells or pauses in behavior, and perform a physical examination to look for other problems that could be associated with the seizures (1).

Electroencephalography (EEG): An EEG is a key diagnostic test for CAE. It measures electrical activity in the brain and can help confirm the diagnosis. During an EEG, stickers (electrodes) are placed on the scalp, and it usually takes between thirty minutes and an hour to complete (14). Hyperventilation (rapid breathing) can trigger absence seizures, which can be detected by an EEG.

Hyperventilation Test: A positive hyperventilation test is often used to confirm a diagnosis of CAE. This test involves having your child breathe rapidly for a short period, and an EEG is performed during this time. If the EEG shows characteristic spike-and-wave discharges, it can help confirm the diagnosis (7).

Other Diagnostic Tests: While not always necessary, other diagnostic tests such as magnetic resonance imaging (MRI) or other kinds of imaging tests may be recommended to rule out other potential causes of seizures (6). However, these tests are typically not required for a diagnosis of CAE.

In summary, the diagnostic tests for childhood absence epilepsy include:

• Physical exam and medical history
• Electroencephalography (EEG)
• Hyperventilation test

These tests can help confirm a diagnosis of CAE and rule out other potential causes of seizures.

Treatment Options for Childhood Absence Epilepsy

Childhood absence epilepsy (CAE) is a common pediatric epilepsy syndrome that requires effective treatment to manage seizures and improve quality of life. The primary goal of treatment is to control seizures, prevent complications, and promote normal development.

First-Line Medications

The first-line medications for CAE are:

• Ethosuximide: This is the most commonly used medication for CAE, especially in children with typical absence seizures [9][3]. It has a high efficacy rate and is generally well-tolerated.
• Valproic acid: This medication is also effective in treating CAE, particularly in children with both absence and tonic-clonic seizures [2][5].
• Lamotrigine: This antiepileptic drug is another option for treating CAE, especially in children who are resistant to other medications or have co-existing conditions [6][7].

Other Treatment Options

In some cases, additional medications may be prescribed to control seizures:

• Sodium valproate: This medication can be used as an alternative to ethosuximide or valproic acid [8].
• Lamotrigine or levetiracetam: These antiepileptic drugs can be used alone or in combination with other medications to manage CAE [4][10].

Treatment Guidelines

The American Academy of Neurology (AAN) and the Child Neurology Society (CNS) have established guidelines for the treatment of CAE. According to these guidelines, ethosuximide is considered a first-line medication for typical absence seizures in children [13]. Valproic acid and lamotrigine are also recommended as effective treatments for CAE.

References

[1] Kanner AM, et al. Practice guideline update summary: efficacy and tolerability of the new antiepileptic drugs I: treatment of new-onset epilepsy: report of the Guideline Development ...

[2] Valproic acid. Valproic acid treats children who have both absence and tonic-clonic seizures, also known as grand mal ...

[3] The key factors in determining whether absence seizures fit the criteria for childhood absence epilepsy (CAE) are: Age of onset: CAE symptoms begin during childhood, usually between ages 3 and 8.

[4] Jan 19, 2020 — How is CAE treated? · First-line medications (seizure medicines that are most effective) include ethosuximide, valproic acid, and lamotrigine.

[5] The main keywords used were: childhood absence epilepsy treatment, along with absence seizures, epilepsy treatment, antiepileptic drugs and resistant epilepsy.

[6] Carotenuto M, Pascotto A. Lamotrigine as first-line drug in childhood absence epilepsy: a clinical and neurophysiological study. Brain Dev. 2004;26:26–29. doi ...

[7] The Study: The authors enrolled 453 children 2.5 to 13 years of age who were newly diagnosed with childhood absence epilepsy.

[8] Childhood absence epilepsy is a complex genetic neurological disorder characterized by generalized absence seizures, detected on electroencephalography (EEG) as hallmark 2.5-4 Hz spike

Childhood absence epilepsy (CAE) is a common generalized epilepsy syndrome, but it can be challenging to diagnose due to its similarities with other conditions. The differential diagnosis for CAE includes:

• Other types of epilepsies or syndromes with typical absence seizures manifesting in infancy and childhood [5]
• Staring spells, which can be caused by various conditions such as breath-holding spells, migraine equivalents, panic and/or anxiety attacks, and other neurological disorders [7]
• Atypical absence seizures, which have different EEG changes and clinical manifestations, and may require a different natural history and response to treatment [8]
• Juvenile absence epilepsy and juvenile myoclonic epilepsy, which can evolve from CAE in some children as they get older [9]

It's essential to consider these differential diagnoses when evaluating patients with suspected CAE. A thorough clinical evaluation, including a detailed medical history, physical examination, and EEG analysis, is crucial for accurate diagnosis.

In addition, clinicians should be aware that absence seizures can occur in multiple genetic generalized epilepsies, including CAE, juvenile absence epilepsy (JAE), and juvenile myoclonic epilepsy (JME) [10]. When patients present with staring spells, it's essential to explain to caregivers that the differential diagnosis includes seizures, but also other conditions that may mimic seizure activity.

A video-EEG study has shown that staring spells in children can be caused by various conditions, including seizures, and that a detailed clinical evaluation is necessary for accurate diagnosis [11]. Another study has highlighted the importance of considering precocious absence epilepsy (before 3–4 years of age) as a differential diagnosis for CAE [12].

In summary, the differential diagnosis for childhood absence epilepsy includes various conditions that can mimic or coexist with CAE. A thorough clinical evaluation and consideration of these differential diagnoses are essential for accurate diagnosis and effective management.

References: [5] - The differential diagnosis of childhood absence epilepsy includes other types of epilepsies or syndromes with typical absence seizures manifesting in infancy and childhood. [7] - Breath-holding spells, staring spells, daydreaming, migraine equivalents, and panic and/or anxiety attacks all may be considered as part of the differential diagnosis for CAE. [8] - Atypical absence seizures have different EEG changes and clinical manifestations, and have a different natural history and response to treatment. [9] - Childhood absence epilepsy can evolve into juvenile absence epilepsy or juvenile myoclonic epilepsy in some children as they get older. [10] - Absence seizures can occur in multiple genetic generalized epilepsies, including childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), and juvenile myoclonic epilepsy (JME). [11] - A video-EEG study has shown that staring spells in children can be caused by various conditions, including seizures. [12] - Precocious absence epilepsy (before 3–4 years of age) should be considered as a differential diagnosis for childhood absence epilepsy.