Absence seizure

Absence seizures are one of several kinds of generalized seizures. These seizures are sometimes referred to as petit mal seizures (from the French for "little illness", a term dating from the late 18th century).[1] Absence seizures are characterized by a brief loss and return of consciousness, generally not followed by a period of lethargy (i.e. without a notable postictal state).

Absence seizure
Other namesPetit mal seizures
SpecialtyNeurology

Signs and symptoms

The clinical manifestations of absence seizures vary significantly among patients.[2][3][4] Impairment of consciousness is the essential symptom, and may be the only clinical symptom, but this can be combined with other manifestations. The hallmark of the absence seizures is abrupt and sudden-onset impairment of consciousness, interruption of ongoing activities, a blank stare, possibly a brief upward rotation of the eyes. If the patient is speaking, speech is slowed or interrupted; if walking, they stand transfixed; if eating, the food will stop on its way to the mouth. Usually, the patient will be unresponsive when addressed. In some cases, attacks are aborted when the patient is called. The attack lasts from a few seconds to half a minute and evaporates as rapidly as it commenced. Absence seizures generally are not followed by a period of disorientation or lethargy (post-ictal state), in contrast to the majority of seizure disorders.

  1. Absence with impairment of consciousness only as per the above description.
  2. Absence with mild clonic components. Here the onset of the attack is indistinguishable from the above, but clonic components may occur in the eyelids, at the corner of the mouth, or in other muscle groups which may vary in severity from almost imperceptible movements to generalised myoclonic jerks. Objects held in the hand may be dropped.
  3. Absence with atonic components. Here there may be a diminution in tone of muscles subserving posture as well as in the limbs leading to dropping of the head, occasionally slumping of the trunk, dropping of the arms, and relaxation of the grip. Rarely tone is sufficiently diminished to cause this person to fall.
  4. Absence with tonic components. Here during the attack tonic muscular contraction may occur, leading to increase in muscle tone which may affect the extensor muscles or the flexor muscles symmetrically or asymmetrically. If the patient is standing, the head may be drawn backward and the trunk may arch. This may lead to retropulsion, which may cause eyelids to twitch rapidly; eyes may jerk upwards or the patients head may rock back and forth slowly, as if nodding.[5][6][7] The head may tonically draw to one or another side.
  5. Absence with automatisms. Purposeful or quasi-purposeful movements occurring in the absence of awareness during an absence attack are frequent and may range from lip licking and swallowing to clothes fumbling or aimless walking. If spoken to, the patient may grunt, and when touched or tickled may rub the site. Automatisms are quite elaborate and may consist of combinations of the above described movements or may be so simple as to be missed by casual observation.[8]
  6. Absence with autonomic components. These may be pallor, and less frequently flushing, sweating, dilatation of pupils and incontinence of urine.

Mixed forms of absence frequently occur. These seizures can happen a few times a day or in some cases, hundreds of times a day, to the point that the person cannot concentrate in school or in other situations requiring sustained, concentrated attention.

Risk factors

Typical absences are easily induced by hyperventilation in more than 90% of people with typical absences. This is a reliable test for the diagnosis of absence seizures: a patient suspected of typical absences should be asked to overbreathe for 3 minutes, counting their breaths. Intermittent photic stimulation may precipitate or facilitate absence seizures; eyelid myoclonia is a common clinical feature.

A specific mechanism difference exists in absence seizures in that T-type Ca++ channels are believed to be involved. Ethosuximide is specific for these channels and thus it is not effective for treating other types of seizure. Valproate and gabapentin (among others) have multiple mechanisms of action including blockade of T-type Ca++ channels, and are useful in treating multiple seizure types. Gabapentin can aggravate absence seizures.[9]

Diagnosis

The primary diagnostic test for absence seizures is EEG.[10] However, brain scans such as by an MRI can help rule out other diseases, such as a stroke or a brain tumor.[11]

During electroencephalography, hyperventilation can be used to provoke these seizures.[10] Ambulatory EEG monitoring over 24 hours can quantify the number of seizures per day and their most likely times of occurrence.[10]

Absence seizures are brief (usually less than 20 seconds) generalized epileptic seizures of sudden onset and termination. When someone experiences an absence seizure they are often unaware of their episode.[12] Those most susceptible to this are children, and the first episode usually occurs between 4–12 years old. It is very rare that someone older will experience their first absence seizure. Episodes of absence seizures can often be mistaken for inattentiveness when misdiagnosed, and can occur 50-100 times a day. They can be so difficult to detect that some people may go months or years before being given a proper diagnosis. There are no known before or after effects of absence seizures.[13]

Absence seizures have two essential components:[2][3][4]

  • Clinical - the impairment of consciousness (absence)
  • Electroencephalography - an (EEG) shows generalized spike-and-slow wave discharges

Absence seizures are broadly divided into typical and atypical types:

  • Typical absence seizures usually occur in the context of idiopathic generalised epilepsies and an EEG shows fast >2.5 Hz generalised spike-wave discharges. The prefix "typical" is to differentiate them from atypical absences rather than to characterise them as "classical" or characteristic of any particular syndrome.
  • Atypical absence seizures:
    • Occur only in the context of mainly severe symptomatic or cryptogenic epilepsies of children with learning difficulties who also suffer from frequent seizures of other types, such as atonic, tonic and myoclonic.
    • Onset and termination is not so abrupt and changes in tone are more pronounced.
    • Ictal - EEG is of slow (less than 2.5 Hz) spike and slow wave. The discharge is heterogeneous, often asymmetrical and may include irregular spike and slow wave complexes, fast and other paroxysmal activity. Background interictal EEG is usually abnormal.

Syndromes

These syndromes are childhood absence epilepsy, epilepsy with myoclonic absences, juvenile absence epilepsy and juvenile myoclonic epilepsy. Other proposed syndromes are Jeavons syndrome (eyelid myoclonia with absences), and genetic generalised epilepsy with phantom absences.

These types of seizures are also known to occur to patients suffering with porphyria and can be triggered by stress or other porphyrin-inducing factors.

Treatment

Treatment of patients with absence seizures only is mainly with ethosuximide or valproic acid, which are of equal efficacy controlling absences in around 75% of patients. Lamotrigine monotherapy is less effective, with nearly half of the patients becoming seizure free. This view has been recently confirmed by Glauser et al. (2010),[14] who studied the effects of ethosuximide, valproic acid, and lamotrigine in children with newly diagnosed childhood absence epilepsy. Drug dosages were incrementally increased until the child was free of seizures, the maximal allowable dose was reached, or a criterion indicating treatment failure was met. The primary outcome was freedom from treatment failure after 16 weeks of therapy; the secondary outcome was attentional dysfunction. After 16 weeks of therapy, the freedom-from-failure rates for ethosuximide and valproic acid were similar and were higher than the rate for lamotrigine. There were no significant differences between the three drugs with regard to discontinuation because of adverse events. Attentional dysfunction was more common with valproic acid than with ethosuximide. If monotherapy fails or unacceptable adverse reactions appear, replacement of one by another of the three antiepileptic drugs is the alternative. Adding small doses of lamotrigine to sodium valproate may be the best combination in resistant cases.

While ethosuximide is effective in treating only absence seizures, valproic acid is effective in treating multiple seizure types including tonic-clonic seizure and partial seizure, as such it may be a better choice if a patient is exhibiting multiple types of seizures.[15] Similarly, lamotrigine treats multiple seizure types including partial seizures and generalized seizures, therefore it is also an option for patients with multiple seizure types.[16] Clonazepam (Klonopin, Rivotril) is effective in the short term but is not generally recommended for treatment of absence seizure because of the rapid development of tolerance and high frequency of side effects.[17]

Medications that should not be used

Carbamazepine, vigabatrin, and tiagabine are contraindicated in the treatment of absence seizures, irrespective of cause and severity. This is based on clinical and experimental evidence.[4] In particular, the GABA agonists vigabatrin and tiagabine are used to induce, not to treat, absence seizures and absence status epilepticus.[18] Similarly, oxcarbazepine, phenytoin, phenobarbital, gabapentin, and pregabalin should not be used in the treatment of absence seizures because these medications may worsen absence seizures.[16]

Data limitations

In the treatment of absence seizures there is often insufficient evidence for which of the available medications has the best combination of safety and efficacy for a particular patient.[19] Nor is it easily known how long a medication must be continued before an off-medication trial should be conducted to determine whether the patient has outgrown the absence seizures, as is often the case in children. To date there have been no published results of any large, double-blind, placebo-controlled studies comparing the efficacy and safety of these or any other medications for absence seizures. A 2019 Cochrane review found that ethosuximide was the best mono-therapy for children and adolescents but noted that if absence seizures co-exist with tonic-clonic seizures then valproate should be preferred.[20][21]

References
  1. Daly, D. D. (1968). "Reflections on the Concept of Petit Mal". Epilepsia. 9 (3): 175–8. doi:10.1111/j.1528-1157.1968.tb04618.x. PMID 4975023.
  2. "Proposal for revised clinical and electroencephalographic classification of epileptic seizures. From the Commission on Classification and Terminology of the International League Against Epilepsy". Epilepsia. 22 (4): 489–501. 1981. doi:10.1111/j.1528-1157.1981.tb06159.x. PMID 6790275.
  3. Panayiotopoulos, Chrysostomos P. (2008). "Typical absence seizures and related epileptic syndromes: Assessment of current state and directions for future research". Epilepsia. 49 (12): 2131–9. doi:10.1111/j.1528-1167.2008.01777.x. PMID 19049569.
  4. Panayiotopoulos, C. P. (2010). A clinical guide to epileptic syndromes and their treatment (2nd ed.). London: Springer.
  5. Takahashi S, Yamamoto S, Tanaka R, Okayama A, Araki A, Azuma H (2015). "Focal frontal epileptiform discharges in a patient with eyelid myoclonia and absence seizures". Epilepsy Behav Case Rep. 4: 35–7. doi:10.1016/j.ebcr.2015.06.006. PMC 4491640. PMID 26155465.
  6. John S. Duncan (1996). Eyelid Myoclonia with Absences. John Libbey Eurotext. pp. 52–. ISBN 978-0-86196-550-2.
  7. Antonio V. Delgado-Escueta (2005). Myoclonic Epilepsies. Lippincott Williams & Wilkins. pp. 104–. ISBN 978-0-7817-5248-0.
  8. Myers, Kenneth (May 2018). "European Journal of Paediatric Neurology". European Journal of Paediatric Neurology. 22 (3): 532–535. doi:10.1016/j.ejpn.2017.12.003. ISSN 1090-3798. Retrieved 24 February 2019.
  9. Perucca, Gram, Avanzini, and Dulac, 1998, "Antiepileptic drugs as a cause of worsening seizures."
  10. Medscape > Absence Seizures by Scott Segan. Updated: Apr 27, 2011
  11. Mayo Clinic > Absence seizure (petit mal seizure) June 23, 2011
  12. Carlson, Neil R. (2013). Physiology of Behavior.
  13. Epilepsy Therapy Project. "Absence Seizures". Epilepsy Foundation. Retrieved 8 May 2013.
  14. Glauser, Tracy A.; Cnaan, Avital; Shinnar, Shlomo; Hirtz, Deborah G.; Dlugos, Dennis; Masur, David; Clark, Peggy O.; Capparelli, Edmund V.; Adamson, Peter C. (2010). "Ethosuximide, Valproic Acid, and Lamotrigine in Childhood Absence Epilepsy". New England Journal of Medicine. 362 (9): 790–9. doi:10.1056/NEJMoa0902014. PMC 2924476. PMID 20200383. Lay summary – ScienceDaily (March 12, 2010).
  15. Kahan, Scott; Brillman, Jon (2005). In A Page Neurology. Hagerstwon, MD: Lippincott Williams & Wilkins. p. 47. ISBN 978-1-4051-0432-6.
  16. "NICE Guidelines". Retrieved 3 November 2014.
  17. Dreifuss, FE (1983). "Treatment of the nonconvulsive epilepsies". Epilepsia. 24 Suppl 1: S45–54. doi:10.1111/j.1528-1157.1983.tb04642.x. PMID 6413201.
  18. Knake, S; Hamer, HM; Schomburg, U (August 8, 1999). "Tiagabine-induced absence status in idiopathic generalized epilepsy". European Journal of Epilepsy. 8 (5): 314–317. doi:10.1053/seiz.1999.0303. Retrieved 3 November 2014.
  19. Posner, Ewa B; Mohamed, Khalid K; Marson, Anthony G (2005). Posner, Ewa B (ed.). "Ethosuximide, sodium valproate or lamotrigine for absence seizures in children and adolescents". Cochrane Database of Systematic Reviews (4): CD003032. doi:10.1002/14651858.CD003032.pub2. PMID 16235312.
  20. Brigo, Francesco; Igwe, Stanley C.; Lattanzi, Simona (8 February 2019). "Ethosuximide, sodium valproate or lamotrigine for absence seizures in children and adolescents". The Cochrane Database of Systematic Reviews. 2: CD003032. doi:10.1002/14651858.CD003032.pub4. ISSN 1469-493X. PMC 6367681. PMID 30734919.
  21. Posner, Ewa B.; Mohamed, Khalid; Marson, Anthony G. (2005). "A systematic review of treatment of typical absence seizures in children and adolescents with ethosuximide, sodium valproate or lamotrigine". Seizure. 14 (2): 117–22. doi:10.1016/j.seizure.2004.12.003. PMID 15694565.
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