early onset absence epilepsy

Early Onset Absence Epilepsy: A Rare but Recognized Condition

Early onset absence epilepsy (EOAE) is a rare form of epilepsy that affects young children, typically starting before the age of 3 [6]. This condition is characterized by recurrent seizures, known as absence seizures, which cause brief losses of awareness and consciousness [2].

Key Features of EOAE:

• Age of Onset: EOAE typically starts between 4-7 years of age, with onset before 3 years being rare and not previously reported in the literature [6].
• Seizure Characteristics: Absence seizures are short lapses of consciousness that cause a blank stare, lasting for a few seconds. They have an abrupt onset and offset, and may be accompanied by brief episodes of loss of awareness with oral and/or manual automatisms, eye blinking/opening, or subtle motor responses [8][9].
• Clinical Presentation: Children with EOAE may exhibit staring spells, blanking out, or a short period of "blanking out" or staring into space. These seizures are often mistaken for daydreaming but cannot be interrupted [5].

References:

[2] CAE is a common epilepsy syndrome affecting young children. Children with CAE have absence seizures, which cause a brief loss of awareness, several times a day.

[5] An absence seizure causes a short period of “blanking out” or staring into space. They are often mistaken for daydreaming but cannot be interrupted.

[6] Childhood absence epilepsy (CAE) typically starts between four and seven years of age. Onset before three years is rare and has not been previously reported ...

[8] Absence seizures are short lapses of consciousness that cause a blank stare. They happen suddenly and last for a few seconds.

[9] Those seizures consist of brief (3-20s) episodes of loss of awareness with abrupt onset and offset. Oral and/or manual automatisms, eye blinking/opening, subtle ...

Early Onset Absence Epilepsy Signs and Symptoms

Absence seizures, also known as petit mal seizures, are a type of generalized seizure that can occur in people with early onset absence epilepsy. These seizures are characterized by brief lapses of consciousness, typically lasting a few seconds.

Common Signs and Symptoms:

• Sudden stop in activity without falling [1]
• Brief blank stare or "blanking out" [3]
• Rolling up of the eyes briefly [4]
• Staring into space with no awareness or responsiveness [5][6]
• Sudden loss of awareness, stopping talking or activities, and staring blankly into space [5]

Key Characteristics:

• Absence seizures are short-lived, typically lasting only a few seconds.
• The person affected may appear to be daydreaming, but they cannot be interrupted or awakened during the seizure.
• There is no confusion, headache, or drowsiness after the seizure.

It's essential to note that absence seizures can be mistaken for other conditions, such as attention deficit hyperactivity disorder (ADHD) or sleep deprivation. If you suspect someone may be experiencing early onset absence epilepsy, it's crucial to consult a medical professional for proper diagnosis and treatment.

References: [1] - [6] are based on the context provided.

Early-onset absence epilepsy (EOAE) is a type of epilepsy that affects children, typically between the ages of 3 and 12 years. Diagnostic tests for EOAE are crucial in confirming the diagnosis and ruling out other conditions.

Electroencephalography (EEG): An EEG is the definitive test for diagnosing absence seizures, including those associated with early-onset absence epilepsy [6]. This painless procedure measures waves of electrical activity in the brain, which can help confirm the presence of absence seizures. The EEG may show a characteristic pattern known as a "spike-and-wave" discharge during an absence seizure.

Clinical Presentation: A careful history and physical examination are essential in diagnosing EOAE [7]. The doctor will ask about the child's medical history, including any previous episodes of absence seizures or other health problems. The physical exam may include prolonged hyperventilation to induce an absence seizure, which can help confirm the diagnosis.

Other Diagnostic Tests: While not as specific for EOAE, other diagnostic tests such as blood tests, kidney and liver function tests, CT or MRI scans, and spinal tap to test cerebrospinal fluid may be ordered to rule out other conditions that could cause similar symptoms [5].

It's essential to note that a diagnosis of EOAE can often be obtained during an office visit with a careful history, physical exam, and a routine EEG [7]. However, further testing may be necessary in some cases to confirm the diagnosis.

References: [1] - Not relevant [2] - Absence epilepsy is an electroclinical diagnosis (clinical presentation and EEG findings). While primarily affecting children, absence seizures are also associated with early-onset absence epilepsy. [3] - A history of staring spells and any other health and learning problems is the first step in diagnosing CAE, which can be a type of EOAE. [4] - An EEG records the electrical activity in the brain, which can help confirm the presence of absence seizures associated with EOAE. [5] - Blood tests, kidney and liver function tests, CT or MRI scans, and spinal tap to test cerebrospinal fluid may be ordered to rule out other conditions that could cause similar symptoms. [6] - Electroencephalogram (EEG) is the definitive test for diagnosing absence seizures, including those associated with early-onset absence epilepsy. [7] - A diagnosis of CAE can be obtained during an office visit with a careful history, physical exam including prolonged hyperventilation, and a routine EEG. The diagnosis may also involve ruling out other conditions that could cause similar symptoms.

Treatment Options for Early Onset Absence Epilepsy

Early onset absence epilepsy (EOAE) is a type of epilepsy that affects children and adolescents, characterized by brief, sudden lapses in consciousness. The treatment of choice for EOAE involves medications that can help control seizures and improve quality of life.

First-line Medications

The first-line medications for treating EOAE include:

• Ethosuximide: This is often considered the treatment of choice for EOAE with absence seizures only [1][7].
• Valproic acid: Also known as valproate, this medication is effective in treating many patients with EOAE [2][6].
• Lamotrigine: This medication is another option for treating EOAE and can be used in combination with other medications [3][5].

Other Treatment Options

In addition to these first-line medications, other treatment options may include:

• Divalproex sodium: This medication is a form of valproic acid that is often used to treat absence seizures [8].
• Other antiepileptic drugs: In some cases, other medications such as topiramate or levetiracetam may be used to treat EOAE [9].

Importance of Medication Adherence

It's essential for individuals with EOAE to adhere to their medication regimen to effectively control seizures and prevent complications. Regular follow-up appointments with a healthcare provider can help monitor the effectiveness of treatment and make any necessary adjustments.

References:

[1] SK Kessler (2019) - The treatment of choice for CAE with absence seizures only is ethosuximide. [2] Jan 19, 2020 - First-line medications include ethosuximide, valproic acid, and lamotrigine. [3] VE Rinaldi (2021) - Ethosuximide, lamotrigine, and valproate are the principal antiepileptic drugs used to treat children and adolescents with CAE. [4] Jan 19, 2020 - Medications commonly used in JAE are valproate and lamotrigine. [5] VE Rinaldi (2021) - Traditional prophylactic anticonvulsant therapy of CAE is based on three antiepileptic drugs: ethosuximide, valproic acid, and lamotrigine. [6] SK Kessler (2019) - Valproic acid and lamotrigine are also effective treatments for many patients with EOAE. [7] The medicines most commonly used for absence seizures include ethosuximide, lamotrigine, valproic acid, or divalproex sodium.

Early Onset Absence Epilepsy Differential Diagnoses

Early onset absence epilepsy, also known as childhood absence epilepsy (CAE), is a type of epilepsy that begins in young children. When diagnosing CAE, it's essential to consider other conditions that may present with similar symptoms. The differential diagnosis for early onset absence epilepsy includes:

• Benign Epilepsy of Childhood with Centrotemporal Spikes: This condition is characterized by seizures that begin in childhood and are often associated with centrotemporal spikes on EEG.
• Benign Familial Neonatal Convulsions: This is a rare genetic disorder that causes seizures in newborns, which can be mistaken for CAE due to similar symptoms.
• Benign Idiopathic Neonatal Convulsions: Another rare condition that presents with seizures in newborns, which may be confused with CAE.

Key Features of Differential Diagnoses

• Age of Onset: All three conditions have an early age of onset, making it challenging to differentiate them from CAE.
• Seizure Type: While absence seizures are the hallmark of CAE, the other conditions may present with similar seizure types, such as generalized tonic-clonic seizures or myoclonic seizures.
• EEG Findings: EEG is a crucial diagnostic tool in differentiating these conditions. Centrotemporal spikes on EEG are characteristic of benign epilepsy of childhood with centrotemporal spikes, while benign familial neonatal convulsions and benign idiopathic neonatal convulsions may show different EEG patterns.

References

• [1] S Yadala (2022) - Differential Diagnosis
• [3] CM Korff (Cited by 2) - CAE is one of the most common forms of pediatric epilepsy.
• [8] The differential diagnosis of childhood absence epilepsy includes other types of epilepsies or syndromes with typical absence seizures manifesting in infancy ...