Juvenile absence epilepsy

Juvenile absence epilepsy DEFAULT

Juvenile Absence Epilepsy

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Sours: https://www.ncbi.nlm.nih.gov/books/NBK559055/

Juvenile Absence Epilepsy (JAE)

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JAE is one of the most common forms of epilepsy in adolescents, with onset usually occurring around puberty. The main seizure type in JAE is absence seizures, but can also include infrequent generalised tonic-clonic seizures and sporadic myoclonic jerks. People with JAE are also at a higher risk of non-convulsive status epilepticus. The cause of JAE is predominately genetic and, in some cases family members may have similar seizures or other generalised epilepsies.

Children who experience frequent absence seizures may experience some learning difficulties. It is not uncommon for children with JAE to experience attention, concentration and memory difficulties prior to the diagnosis of JAE and learning problems may improve after treatment commences.

People living with JAE will usually require lifelong treatment with AEDs, and generally have a good prognosis.

For more information about JME visit the Epilepsy Foundation USA

Sours: https://epilepsyfoundation.org.au/understanding-epilepsy/epilepsy-syndromes/juvenile-absence-epilepsy-jae/
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JUVENILE ABSENCE EPILEPSY

OVERVIEW

This genetic/idiopathic generalized epilepsy is characterized by absence seizures that are not very frequent in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures typically also occur. With absence seizures in a child aged between 8 and 12 years, a diagnosis of juvenile absence epilepsy or childhood absence epilepsy depends on the frequency of the absence seizures.

Clinical context

This epilepsy syndrome is characterized by absence seizures that have onset from age 8 to 20 years of age (peak 9-13 years). Less commonly, adolescents may present with generalized tonic-clonic seizures prior to onset of absences. Treatment is usually required for life. Both males and females are affected. Antecedent, birth and neonatal history is normal. Neurological examination and head size are normal. Development and cognition prior to presentation are typically normal. Attention deficit hyperactivity disorder and learning difficulties may also occur. A previous history of febrile seizures is seen occasionally.

Sours: https://www.epilepsydiagnosis.org/syndrome/jae-overview.html

Epilepsy juvenile absence

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

orphanet

Orpha Number: 1941

Definition

Juvenile absence (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence , frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.


Epidemiology

The incidence of JAE is still unknown but it accounts for approximately 2-3% of patients with adult epilepsy in general, and about 8-10% of patients with genetic generalized epilepsy (GGE). No sex predominance has been observed.


JAE is characterized by sporadic occurrence of absence seizures (only one or a few absences daily; 100% of cases), frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS; 80%) and sporadic myoclonic jerks (20%). The seizures onset is typically between 9 and 13 years of age and it manifests as a ''staring spell'' that can be accompanied by atonic postures such as drooping of the head and/or automatisms such as lip smacking. GTCS and myoclonic seizures often occur 1-10 years after the absence seizure onset. Patients with JAE usually develop normally, although uncontrolled absence seizures may have an impact on their ability to learn at school.


The exact etiology of JAE is still elusive. However, genetic for voltage-gated sodium channels (CACNB4 (2q22-q23)), potassium channels (CLCN2 gene (3q27.1)), and EFHC1 (6p12.3) may be involved in a subset of patients. Moreover, different mutations have been found in genes for GABA receptors (ligand ion channels), specifically in the GABRA1 gene (5q34).


Diagnosis relies on the clinical features and on (EEG) recorded awake and during sleep, that displays a generalized 3-4 Hz spike-and-slow-wave complexes.


Differential diagnosis includes childhood absence epilepsy, juvenile myoclonic epilepsy, Jeavons (see these terms).


The transmission is still unknown although an increased risk for first degree related parents to develop JME may exist.


Management and treatment

The antiepileptic drugs of choice are valproic acid (VPA) and lamotrigine (LTG). In cases where VPA deals with only partial seizure control, add-on of LTG (GTCS) or ethosuximide (absence seizures) can be beneficial.


Prognosis of JAE is usually favorable with good therapy responsiveness. Generally, seizure freedom can be achieved with antiepileptic medication in 62-84% of all patients with JAE. However, the occurrence of GTCS predicts a worse prognosis.


Visit the Orphanet disease page for more resources.

Last updated: 11/1/2015

Sours: https://rarediseases.info.nih.gov/diseases/2162/epilepsy-juvenile-absence

Epilepsy juvenile absence

Juvenile Absence Epilepsy

What is juvenile absence epilepsy like?

Seizures in juvenile absence epilepsy (JAE) can be of two main types.

Absence seizures are seen in all cases.

  • In an absence seizure, the young person will stare and is either unresponsive or has impaired responsiveness.
  • Their eyes may roll up briefly or the eyelids may flutter.
  • Some people may have repetitive movements, like mouth chewing (automatisms).
  • Absence seizures usually last 10 to 45 seconds and end abruptly.
  • The person can resume normal activity after the seizure and often is not even aware that anything has happened.
  • Absence seizures typically are seen less than daily.

Generalized tonic-clonic seizures are seen in about 8 in 10 people.

  • Generalized tonic-clonic seizures involve whole body stiffening and jerking.
  • They usually occur when waking up.
  • They usually last seconds to minutes.
  • Their frequency is variable.
  • People with JAE usually develop normally.
  • One in 3 people may also have attention, concentration, and memory problems that may improve with treatment of absences.

Who gets juvenile absence epilepsy?

  • Approximately 1 to 2 out of 100 people with epilepsy have JAE.
  • The seizures in JAE usually begin between the ages of 10 to 16 years, but rarely may start later.
  • The cause is mostly genetic. A family history is rare, but family members may have similar seizures or other generalized epilepsies.

How is JAE diagnosed?

  • Information about your seizure type(s), health and family history, and a physical and neurological examination are the first steps in diagnosing absence seizures.
  • An EEG (electroencephalogram) is done to look for possible seizure activity. Hyperventilation and photic stimulation (exposure to rapid flashing lights) are often performed during the EEG. The EEG shows generalized polyspike or spike and wave discharges at 3-4 Hz (cycles per second).
  • The EEG shows spike and wave discharges at 3 to 6 Hz (cycles per second) that are generalized (the same on both sides of the brain).
  • CT (computed tomography) and MRI (magnetic resonance imaging) scans of the brain are normal and are not indicated in most cases.
  • Screening for attention problems is recommended.
Examples of 3 to 6 Hz generalized spike wave
Examples of 3 to 6 Hz generalized spike wave

Examples of 3 to 4 Hz generalized spike wave.

How is JAE treated?

  • Juvenile absence epilepsy usually responds to treatment. Medications commonly used in JAE are valproate (Depakote) and lamotrigine (Lamictal).
  • Ethosuximide (Zarontin) can be used if absence seizures are not controlled, but does not protect against generalized tonic-clonic seizures.
  • If the absences or generalized tonic-clonic seizures are persistent, combining these medications may be helpful.
  • Other medications have been used, such as topiramate (Topamax), zonisamide (Zonegran), levetiracetam (Keppra), and benzodiazepines (clobazam). However, these are generally not considered unless valproic acid and lamotrigine have failed or have caused side effects.
  • A form of the ketogenic diet may also be considered in cases that don't respond well to medicine.

What's the outlook for children with JAE?

  • JAE usually responds to treatment.
  • It is considered a life-long condition, which means seizure medications will be needed to control the seizures.
  • Attention problems may persist despite successful treatment. Therefore close monitoring is recommended.

Here's a Typical Story

Billy, a 12-year-old boy, "blanks out" sometimes and stops playing ball for 10 to 15 seconds during baseball practice. His coach calls his name, but Billy doesn't seem to hear him. He usually blinks a few times and sometimes he starts moving his mouth like he’s chewing something. Usually the seizure ends abruptly and he’s right back to the game. These typically occur 2-5 times a week. On a couple of occasions in the morning, he has had a bigger seizure where his whole body stiffens and then jerks. Those seizures last about 2 minutes.

What’s the difference?

How are juvenile absence epilepsy (JAE) and childhood absence epilepsy (CAE) different?

  • When Seizures Start
    • JAE: usually after age 10 years
    • CAE: usually before age 10 years, most often between 5 and 8 years of age
  • Length of Absence Seizure
    • JAE: 10-45 seconds
    • CAE: 10-20 seconds
  • Frequency of Absence Seizures
    • JAE: less than daily
    • CAE: up to 20-40 times per day
  • Outlook
    • JAE is usually a life-long condition
    • CAE often goes away as the child gets older

Learn More

Resources

Sours: https://www.epilepsy.com/learn/types-epilepsy-syndromes/juvenile-absence-epilepsy
EEG in Juvenile Myoclonic Epilepsy

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