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content:childhood_absence_epilepsy [2024/03/09 18:30] – [Differentiating between CAE and JAE] biju.hameed@gmail.com | content:childhood_absence_epilepsy [2024/03/19 17:06] (current) – [Differentiating between CAE and JAE] biju.hameed@gmail.com | ||
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====== Childhood Absence Epilepsy ====== | ====== Childhood Absence Epilepsy ====== | ||
{{tag> | {{tag> | ||
- | Childhood absence epilepsy (CAE) is an age-dependent, | + | * Childhood absence epilepsy (CAE) is an age-dependent, |
+ | * The 2017 International League Against Epilepsy (ILAE)classification suggested that the term IGE could be reserved for the four syndromes including childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), [[juvenile myoclonic epilepsy]] (JME), and epilepsy with generalized tonic–clonic seizures alone (GTCA)[(: | ||
+ | * CAE makes for 2% to 10% of all paediatric epilepsies and 8-15% of school-aged childhood epilepsies. Seizures occur many times daily and consist of brief staring spells, sometimes with rhythmic eye blinking or motor automatisms, | ||
===== Investigations ===== | ===== Investigations ===== | ||
< | < | ||
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* Because VPA slows down the metabolism of LTG by blocking liver enzymes, titration of LTG starts at an even lower dose, moves more slowly, and hits a lower target in a person who is also taking VPA than in a person who is not taking any other medication. | * Because VPA slows down the metabolism of LTG by blocking liver enzymes, titration of LTG starts at an even lower dose, moves more slowly, and hits a lower target in a person who is also taking VPA than in a person who is not taking any other medication. | ||
* There are important cognitive, behavioural, | * There are important cognitive, behavioural, | ||
- | ===== Treatment resistant CAE ===== | ||
- | * If first- and second-line drugs don't work, clobazam might be worth a try. However, there isn't much literature on its use in treatment-resistant CAE | ||
- | * The ketogenic diet has also been used successfully in children with treatment-resistant CAE[(: | ||
- | * There is mixed evidence about how well levetiracetam works for children absence epilepsy. Some reports say it works pretty well[(: | ||
===== Differentiating between CAE and JAE ===== | ===== Differentiating between CAE and JAE ===== | ||
- | * Age at onset of CAE is considered to be 2 to 13 years of age and for Juvenile Absence Epilepsy (JAE) to be 8 to 20 years of age; there is five years of overlap[(: | + | * Age at onset of CAE is considered to be 2 to 13 years of age and for Juvenile Absence Epilepsy (JAE) to be 8 to 20 years of age; there is five years of overlap[(: |
* Patients with JAE more often have GTCS and more frequently experience seizure-related injuries compared with patients with CAE | * Patients with JAE more often have GTCS and more frequently experience seizure-related injuries compared with patients with CAE | ||
* Valproate can be considered as the drug of choice in men and lamotrigine as the first drug of choice in women with JAE. See <tabref absenceseizuremedication> | * Valproate can be considered as the drug of choice in men and lamotrigine as the first drug of choice in women with JAE. See <tabref absenceseizuremedication> | ||
* CAE has a good prognosis (most patients will become seizure-free off ASMs[(: | * CAE has a good prognosis (most patients will become seizure-free off ASMs[(: | ||
< | < | ||
- | ^ Feature | + | ^ Feature |
- | | Age at onset | + | | Age at onset |
- | | Usual | 4–10 years | + | | Usual | 4–10 years |
- | | Range | 2–13; caution if diagnosing at <4yrs of age | 8–20 years; exceptional cases may present in adulthood | + | | Range | 2–13; caution if diagnosing at <4yrs of age | 8–20 years; exceptional cases may present in adulthood |
- | | Development | + | | Development |
- | | Absences | + | | Absences |
- | | Frequency | + | | Frequency |
- | | Duration | + | | Duration |
- | | Impaired awareness | + | | Impaired awareness |
- | | Other seizure types | | + | | Other seizure types | |
- | | Febrile | + | | Febrile |
- | | Generalized tonic-clonic seizures | + | | Generalized tonic-clonic seizures |
- | | Myoclonic | + | | Myoclonic |
- | | EEG background | + | | EEG background |
- | | Interictal epileptiform\\ discharge | + | | Interictal epileptiform\\ discharge |
- | | Awake | 2.5–4-Hz generalized spike-wave | + | | Awake | 2.5–4-Hz generalized spike-wave |
- | | Asleep | + | | Asleep |
- | | Irregular generalized spike-wave | + | | Irregular generalized spike-wave |
- | | Photoparoxysmal response | + | | Photoparoxysmal response |
- | | Hyperventilation induction | + | | Hyperventilation induction |
- | | ICTAL EEG | Regular 3-Hz (range = 2.5–4 Hz) generalized spikewave; 21% may have absences starting at 2.5-Hz spike-wave, and 43% may have absences starting at 4 Hz; if no generalized spike-wave is seen with hyperventilation for 3 min in an untreated patient, CAE can be excluded Disorganized dischargesa less frequent | + | | ICTAL EEG | Regular 3-Hz (range = 2.5–4 Hz) generalized spikewave; 21% may have absences starting at 2.5-Hz spike-wave, and 43% may have absences starting at 4 Hz; if no generalized spike-wave is seen with hyperventilation for 3 min in an untreated patient, CAE can be excluded Disorganized dischargesa less frequent |
- | | Abbreviations: | + | | Abbreviations: |
</ | </ | ||
+ | |||
+ | While reporting an EEG the following terms are suggested, whenever appropriate: | ||
===== Pathophysiology ===== | ===== Pathophysiology ===== | ||
* Absence seizures result from disruptions in thalamocortical rhythms via T-type calcium channel dysfunction. | * Absence seizures result from disruptions in thalamocortical rhythms via T-type calcium channel dysfunction. | ||
+ | see also [[absence seizures]] | ||
+ | ===== Genetics ===== | ||
+ | |||
+ | * There are few genes that confer monogenic risk for CAE, found through family studies or large cohort studies (e.g., GABRG2, GABRA1, SLC2A1[(: | ||
* The [[https:// | * The [[https:// | ||
+ | * Several recurring Copy Number Variations (CNVs), such as 15q11.2, 15q13.3, and 16p13.11 microdeletion[(: | ||
+ | |||
+ | ===== Treatment resistant CAE ===== | ||
+ | * If first- and second-line drugs don't work, clobazam might be worth a try. However, there isn't much literature on its use in treatment-resistant CAE | ||
+ | * The ketogenic diet has also been used successfully in children with treatment-resistant CAE[(: | ||
+ | * There is mixed evidence about how well levetiracetam works for children absence epilepsy. Some reports say it works pretty well[(: | ||
+ | |||
===== References ===== | ===== References ===== | ||