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Epilepsy syndromes


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summary of epileptic syndromes in children

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Epilepsy syndromes

  2. 2. EPILEPSY CLASSIFICATION • International League Against Epilepsy (ILAE) 2010 revised the classification scheme • Seizures are classified by ONSET in the brain and the cause of the seizures
  3. 3. ONSET IN THE BRAIN (EEG) • Generalized • Absence • Myolconic • Tonic • Clonic • Atonic • Generalized tonic- clonic • Focal • Seizure semiology is critical • Secondary generalization • Epileptic spasms • Unknown • All other seizure type/not categorized
  4. 4. ETIOLOGY • Genetic (or presumed genetic)-SPECIFIC EPILEPSY GENES, where EPILEPSY is the primary manifestation like SCN1A, ADNFLE (this category does not include many SYNDROMES like TS, or some genetic causes of cortical malformations) • Structural/Metabolic-tubers (caused by TS), cortical malformations (possibly caused by a genetic disorder), strokes, abscess, tumors, etc • Unknown cause • COMMON EPILEPSY SYNDROMES are NOT insisted upon by the official classifications (but they are still clinically very useful
  5. 5. GENERALIZED SEIZURES • On EEG-these start in the WHOLE BRAIN all at once • Examples-Childhood absence epilepsy, Juvenile myoclonic epilepsy • Sometimes there are features on EEG to help distinguish epilepsy syndromes
  6. 6. FOCAL SEIZURES • On EEG, seizures CLEARLY start in one part of the brain • Seizures can stay focal or spread • Sometimes there is secondary generalization
  7. 7. CHILDHOOD ABSENCE EPILEPSY (CAE) • GENERALIZED EPILEPSY • Onset between 4-10 years (peak onset 5-7 years) • Frequent typical absence seizures: short staring spells (less than 20 seconds), occasionally with other features: automatisms of hands or mouth, eye fluttering • Neurological development is normal • More prevalent in girls (60-70% affected patients are girls) • Onset of seizures often accompanies a decline in school performance • Seizures brought out by hyperventilation
  9. 9. TREATMENT OF CAE • Ethosuximide (only useful in this disorder) • Lamotrigine • Valproic acid These are considered equivalent (pick your side effect profile) • Can try in refractory cases: clobazam, levetiracetam, topiramate, zonisamide
  10. 10. PROGNOSIS OF CAE • Generally good. Seizures remit in up to 95% of cases • Increased risk of other epilepsies • Children can have learning/cognitive difficulties even after seizure remission occurs
  11. 11. JUVENILE MYOCLONIC EPILEPSY (JME) • GENERALIZED EPILEPSY • 3 seizure types: ***myoclonic jerks (cardinal symptom), absences, convulsions • Myoclonic jerks are more typical in the morning • Onset between 8-24 years (peak onset 12-18) • Patients are very sensitive to sleep deprivation and alcohol consumption
  13. 13. TREATMENT OF JME • First line: • Valprioc acid • Lamotrigine (may make myoclonus worse) Other agents: Levetiracetam is useful of convulsions and myoclonus, Topirmate and zonisamide are useful for convulsions, clobazam is good for everything
  14. 14. PROGNOSIS OF JME • Usually people are on medication lifelong • Occasionally seizures do remit, but most people elect to stay on medications • If seizures are poorly controlled, it can cause cognitive impairments, but if well controlled, many people can live normal lives • Advise against sleep deprivation/alcohol
  15. 15. A WORD ABOUT JUVENILE ABSENCE EPILEPSY (JAE) • GENERLIZED EPILEPSY • Typical absences, like CAE • Onset after age 10 • Higher risk for evolving into JME like picture
  16. 16. EEG IN JAE
  17. 17. BENIGN EPILEPSY WITH CENTRO-TEMPORAL SPIKES (BECTS), FORMERLY KNOWN AS BENIGN ROLANIDIC EPILEPSY • FOCAL EPILEPSY • Onset between 2-13 years (peak onset 5-10 years) • Seizures occur around sleep (falling asleep or waking up) • Typical seizure: face pulling/drooling, inability to speak, sometimes ipsilateral hand involvement, sometimes secondary generalization • At onset of seizure, children typical have preserved awareness
  19. 19. PROGNOSIS • These seizures may not need treatment (some patients only have 1-2 seizures in their life separated by many years) • Treat when seizures are recurrent (greater than 2), prolonged, or if thy generalize to convulsions • Benign is a misnomer: even though the seizures remit, there can be long term learning/cognitive issues
  20. 20. PANAYIOTOPOULOS SYNDROME • FOCAL EPILEPSY • Childhood onset (between 1-14, median onset 5 years) • Autonomic seizures, 2/3 of them out of sleep • Common clinical features: emesis with eye deviation. At onset children can have preserved awareness • Can secondarily generalize • Can have other autonomic features: pallor/flushing, cyanosis, mydriasis or miosis, hypersalivation, incontinence, penile erection • Events can be long: 10-30 minutes • Interictal eeg can be normal
  22. 22. PROGNOSIS • Generally good • Treatement is not typically needed, especially if events are rare • Treat if there are convulsions or cardiorespiratory instability
  23. 23. AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY (ADNFLE) • FOCAL EPILEPSY • Onset between 1-64 (median onset 14) • Frontal lobe seizures out of sleep • Nocturnal arousals out of non-REM sleep with bizarre behavior, wanderings, dystonia • Some well described genetic associations with incomplete penetrance • Video EEG is very useful to help distinguish from REM sleep behaviors disorder, sleep waling, etc
  24. 24. PROGNOSIS OF ADNFLE • Very treatable • Early recognition improves outcomes
  25. 25. DOOSE’S SYNDROME (MYOCLONIC- ASTATIC EPILEPSY OR MAE) • GENERALIZED EPILEPSY • Clinical hallmark is myoclonic-astatic seizures (or myoclonic atonic seizures) • Can also have absences, convulsions • Onset between ages 2-4 • Normal development up to the age of onset, then during the active phase of seizures-regression can occur • Differential includes Dravet’s syndrome or Lennox- Gastaut syndrome
  26. 26. TREATMENT/PROGNOSIS • Lamotrigine, valproic acid, the ketogenic diet • Prognosis can actually be good, when the seizures go into remission-many children have an improvement in development
  27. 27. DRAVET’S SYNDROME (SEVERE MYOCLONIC EPILEPSY OF INFANCY OR SMEI) • MIXED EPILEPSY (both focal and generalized features) • Seizures begin in the first year of life • There severe encephalopathy with developmental regression or plateau with onset of seizures • Seizures can be myoclonic, clonic, focal, convulsive • Well described genetic associations
  28. 28. TREATMENT/PROGNOSIS • Typically refractory seizures/medication resistant. Due to mixed epilepsy type: broad spectrum agents (valprioc acid, lamotrigine, topiramate) indicated. Avoid carbemazepine/oxcarbazepine • Stiripentol, has orphan drug approval to treat Dravet’s in the EU • Severe long term encephalopathies • Cannabidiol oil??? Research is ongoing
  29. 29. INFANTILE SPASMS/WEST SYNDROME (IS) • Has its own classification • Epileptic encephalopathy • Clinical triad of clinical spasms (myoclonic tonic), hypsarrhythmia on EEG, developmental regression • Can be idiopathic or caused by structural/metabolic defect: TS, perinatal stroke, Sturge Weber, cortical migration abnormalities • Typical age of onset 3-18 months (peak incidence 6-9 months)
  30. 30. EEG IN IS
  32. 32. TREATMENT/PROGNOSIS • ACTH, Vigabitrin (first line in TS), topirmate (if there are focal seizures as well), clobazam • Most children have long term neurodevelopmental problems, which are worse the longer it takes to initiate treatment • Some evolve to a Lennox-Gastaut picture as they get older
  33. 33. OHTAHARA SYNDROME • Catastrophic form of an early epileptic encephalopathy • Onset between birth and 3 months • Various structural and genetic causes • Very poor psychomotor outcome
  34. 34. LENNOX-GASTAUT SYNDROME (LGS) • MIXED EPILEPSY • Often severe epileptic encephalopathy • Multiple seizure types: tonic, myoclonic, atonic, atypical absence, focal seizures that can generalize • EEG hallmark: “slow” generalized spike-wave 2 hertz-usually at onset of disease, EEG can evolve over time, can also have other focality • Many children with LGS have evolved to that from IS
  35. 35. LGS EEG
  36. 36. TREATMENT/PROGNOSIS • Can be medication resistant • Broad spectrum agents preferred: lamotrigine, valproic acid, topiramate, clobazam, runfinamide • Long term neuro-developmental problems/encephalopathy