Introduction To Epilepsy Semiology diagnosis Treatment

1. Introduction To EpilepsySemiologydiagnosis Treatment • M. Scott Perry, M.D. • Emory University • April 18, 2007 • September 18, 2006

2. Objectives • Recognize different types of seizures. • Discuss workup for new onset seizures • Learn classification of epilepsy types based on history, seizure type, MRI, and EEG findings • Review common treatments used in epilepsy • Learn prognosis based on epilepsy type • Briefly review some frequently asked questions

3. Spells Seizure Seizure Equivalents GERD Breath Holding Infantile Masturbation Syncope Benign Sleep Myoclonus Symptomatic Electrolytes Trauma Ingestion Recurrent (Epilepsy)

4. Case 1

6. Seizure Imitators • Benign Neonatal Sleep Myoclonus • Myoclonic jerks are focal, multifocal, unilateral or bilateral • 1-5 hz, distal>proximal • Begins in first weeks, diminishes by 2nd month, generally gone by 6 months • Episodes may be exacerbated by benzos

7. Seizure ImitatorsBreath Holding Spells • Incidence: 4.6% (population study, N=4980) • Onset: 6-18 months • 90% resolve by age 6y • cyanotic and pallid

8. CYANOTIC BREATH-HOLDING SPELLS • 60 % are cyanotic • stimulus triggered (anger, frustration) • short cry • breathing interrupted in expiration • cyanotic, limp, LOC • +/- sleep

9. COMPLICATED BREATH-HOLDING SPELLS • Breath-holding spells + seizure-like activity • usually more prolonged • 15% have complicated features • clonic activity follows LOC • stiffening

10. Seizures:What information is useful? • What was the patient doing when it started? Unresponsive?...are you sure? Asleep or awake? • Tell us exactly what you saw: • E.R.B.S.A.O? • Does it make anatomical sense? Same side, both sides, just arms, etc. • How long did it last?

11. Clinical Characteristics of Seizures in Neonates (Scher, et al 1989) • No accepted classification for neonatal seizures • 80 neonates with suspicious movements. Only 8 had electrographic seizures. • Focal/multifocal clonic: 44% epileptic • “Subtle seizures”-roving eye movements, arrest of behavior, lip smacking, autonomic-30% • Tonic(focal or generalized) 8% • Myoclonic 7%

12. Clinical Characteristics of Seizures in Neonates (Scher, et al. 1993) • 92 neonates with electrographic seizures (345 EEG recordings) • 48% had electroclinical event • Subtle 71%, clonic 41%, myoclonic 20%, tonic 9% • 34% with only electrographic events • 17/90 (19%) of paralyzed neonates had electrographic events

13. Clinical Seizures in Neonates • Gen. Tonic Clonic seizures don’t happen in neonates. • 69 infants, 101 seizures, only 4 resembled GTCS, none truly were. (Nordli, et al.) • Duration- average duration 2.25 minutes. Usually shorter, rarely longer. Intertictal recovery 8 minutes (Clancy and Legido, 1987) • Status Epilepticus- clinical SE is rare, electrographic may not be • 487 seizures, only 2 SE (Clancy, et al) • 33% FT infants, 9% PT (Scher, et al)

14. Seizure Semiology of Neonates Focal/Multifocal Clonic Tremors Subtle Tonic

15. Seizure Types Partial Generalized Simple Partial Complex Partial Partial Secondarily Generalized

16. Simple partial • Preserved consciousness • Isolated motor/sensory • Complex partial involves loss of consciousness

17. Partial Secondarily Generalized • Starts partial, rapidly spreads • You have to ask the questions to get the answers

18. Partial Seizure Clues • Contralateral • Head Deviation, Eye Deviation, Dystonic Posturing, Unilateral Clonic Activity, Postictal Paralysis • Ipsilateral • Automatisms, Eye Blinking, Nose Wiping

19. Differentiating Seizure Types - Semiology Head and Eye Deviation Partial Seizures

20. What do you see? 1. Head Deviation 2. Automatism 3. Eye Deviation 4. Unilateral Dystonic/Clonic Activity

21. Seizure Types Generalized Partial Generalized Tonic Clonic Tonic Clonic Atonic Myoclonic Absence Simple Partial Complex Partial Partial Secondarily Generalized

22. Generalized Seizure Myoclonic • Characterized by quick, arrhythmic, and symmetric/asymmetric movements • Often not reported by patients. • Ask about sudden falls or dropping objects

23. See the Difference? Myoclonic-fast, jerking motion Clonic-rhythmic

24. Semiology Typical Absence Seizures • Characterized by brief, abrupt impairment of consciousness associated with EEG demonstrating 3 Hz spike and slow wave complexes with normal interictal background • May also demonstrate: • mild clonic, tonic, or atonic components • automatisms • autonomic components Panayiotopoulos “The Epilepsies: Seizures, Syndromes, and Manangement

25. Generalized Seizure Semiology Infantile Spasms

26. Review So Far • Common seizure imitators in pediatrics • Seizures come in two basic types. You have to ask the right questions to distinguish them • Now...how do you diagnose epilepsy (i.e. when is EEG/MRI necessary) and why do we care?

27. Epilepsy Types Partial Generalized Idiopathic Cryptogenic Benign Rolandic Epilepsy Benign Occipital Epilepsy Cryptogenic Idiopathic Symptomatic Childhood Absence Juvenile Absence Juvenile Myoclonic Grand Mal Upon Awakening West Syndrome Lennox-Gastaut Symptomatic • Primary = Idiopathic = presumed genetic • Secondary = Symptomatic=underlying cerebral cause (i.e. injury, dyplasia, etc.)

28. Idiopathic Partial Epilepsy Benign Rolandic Epilepsy (Benign Childhood Epilepsy with Centro-Temporal Spikes) • Onset 1-14 years, 75% between 7-10 years of age • Prevalence is 15% of children with seizures • Characterized by infrequent, often single, focal seizures consisting of unilateral facial sensorimotor symptoms, oropharyngolaryngeal manifestations, speech arrest, or hypersalivation lasting 1-2 minutes • 1/3 -2/3 will have secondarily generalized seizures • 75% are nocturnal • MRI normal • Typical EEG

30. Benign Rolandic Epilepsy Prognosis/Treatment • 2-3% school age children have CT spikes with <10% having BRE • Remission usually within 2-4 years from onset and before the age of 16 years • Less than 2% will develop infrequent generalized seizures in adulthood • Treat or not to treat

31. Benign Occipital Epilepsy Gastaut Type • Onset 3-15 years • Manifest as visual hallucinations, blindness, or both-lasting seconds to <3 minutes • Rarely terminate with hemiconvulsions or generalized convulsion • 50% have postictal headache • Similar manifestation to seizures from occipital lesions - MRI needed • Typical EEG

32. Benign Occipital Epilepsy Fixation-Off EEG

33. Benign Occipital Epilepsy Prognosis/Treatment • Remission occurs 2-4 years from onset for 50-60% of patients • Dramatic response to carbamazepine in >90% • 15% association with celiac disease

34. Symptomatic Partial Epilepsy • Abnormal MRI (stroke, dyplasia, etc.) or abnormal EEG without classic pattern • History not consistent with primary partial epilepsy • Prognosis varies

35. Secondary Partial Epilepsy - MRI Heterotopia Mesial Temporal Sclerosis

36. Idiopathic Generalized Epilepsy Childhood Absence Epilepsy • Onset 2-10 years, peak 5-6 years • 2/3 are females • Abrupt cessation of activity or speech last 4-20 seconds followed by return to baseline • Normal MRI • Typical EEG with 3Hz SW often provoked with HV

37. Idiopathic Generalized Epilepsy Childhood Absence Epilepsy

38. Idiopathic Generalized Epilepsy Childhood Absence Epilepsy Prognosis/Treatment • Remission often occurs before 12 years of age • Less than 10% develop infrequent generalized tonic clonic seizures in adolescence or adult life • Rarely will patients continue to have absence seizures as adults • Treatment with valproic acid, ethosuximide, or lamotrigine will control absences in >80% • Possible role for topiramate and levetiracetam

39. Idiopathic Generalized Epilepsy Juvenile Absence Epilepsy • Age of onset 9-13 years • 80% suffer from GTCS and 15-25% have Myoclonic seizures with onset 1-10 years after absences • Frequent/severe absences • Absence status in 20% • Prognosis: 70-80% will be controlled, though this is a lifelong disorder • 20% may have intractable absences and GTCS

40. Idiopathic Generalized Epilepsy Juvenile Myoclonic Epilepsy • Characterized by myoclonic jerks upon awakening starting in adolescence • GTCS (>90%) may begin a few months later, occasionally earlier • Absence seizures (33%), if present, begin between 5-16 years • M:F equal • Seizure precipitants: Sleep deprivation, alcohol, stress, video games

41. Idiopathic Generalized Epilepsy Juvenile Myoclonic Epilepsy • EEG: irregular generalized 3-6hz spike/polyspike-slow wave discharges and generalized fragments. 33% have photoparoxysmal responses

42. Idiopathic Generalized Epilepsy Juvenile Myoclonic Epilepsy Treatment/Prognosis • Valproic Acid, levetiracetam most commonly used monotherapy treatment • Lamotrigine, clonazepam • Prognosis: Seizures well controlled in up to 90% of patients. Treatment is lifelong, as 80% relapse after drug withdrawal • Carbamazepine, oxcarbazepine, phenytoin, gabapentin, tiagabine, and vigabatrin are contraindicated • Lifestyle management with regards to alcohol use, sleep deprivation, etc.

43. Symptomatic Generalized Epilepsy Infantile Spasms West Syndrome “...these bobbings...they come on whether sitting or lying; just before they come on he is all alive and in motion...and then all of a sudden down goes his head and upwards his knees; he then appears frightened and screams out. --W.J. West (1841)

44. Symptomatic Generalized Epilepsy Infantile Spasms West Syndrome • Onset between 3-12 months, peak at 5 months • Incidence: 3-5/10,000 • Spasms are flexor, extensor, or combined • Clusters with 20-150 seizures per day, occurring most often on awakening or prior to sleep • Developmental delay preceeds spasms in 2/3 • Classified as symptomatic, probably symptomatic, and cryptogenic

45. Symptomatic Generalized Epilepsy Infantile Spasms West Syndrome • 80% symptomatic with most caused by pre-, peri-, or post-natal insults (i.e. HIE, ICH, dysplasias, trauma) • 50% of patients with TS have spasms • 3% of patients with Trisomy 21 • Aicardi’s syndrome (spasms, agenesis of the corpus callosum, and retinal lacunes • EEG demonstrates hypsarrhythmia • High voltage, chaotic, arrhythmic and asynchronous which becomes more synchronous in NREM sleep • Multifocal independent spike wave discharges • Periods of electrodecrement

46. Symptomatic Generalized Epilepsy Infantile Spasms West Syndrome

47. Symptomatic Generalized Epilepsy Infantile Spasms Prognosis • Spasms typically will remit, even without treatment, by 18 months of age • 60% of patients develop other seizure types, CPS and Lennox-Gastaut syndrome are most common • 90% of patients have developmental delay, 66% are severely cognitively impaired

48. Symptomatic Generalized Epilepsy Infantile Spasms Treatment • ACTH - 50% remission, all or none. No proven dosing regimen, no clear reason why it works • Topiramate - similar efficacy usually in high doses (25-30mg/kg/d) • Vigabatrin - especially useful in TS (90%), beware of irreversible visual field defects • Pyridoxine, valproate, zonisamide, levetiracetam, lamotrigine, felbatol, keto diet • Surgery

49. Symptomatic Generalized Epilepsy Lennox-Gastaut Syndrome • Three criteria • Multiple intractable seizures including tonic (80-100%), atypical absence (66%), and atonic (50%) • cognitive and behavioral abnormalities • Slow (<2.5 Hz) generalized spike wave • Onset 1-7 years, peak 3-5 • 10-30% develop from West syndrome or other epileptic encephalopathies

50. Symptomatic Generalized Epilepsy Lennox-Gastaut Syndrome