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Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist...

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Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group
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Page 1: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Pediatric Epilepsy Syndromes

Stefanie Jean-Baptiste Berry, MDPediatric Neurologist/EpileptologistNortheast Regional Epilepsy Group

Page 2: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

IntroductionMost Recent ILAE Definition April 2014: (1) At least two unprovoked (or reflex)

seizures occurring >24 h apart (2) One unprovoked (or reflex) seizure and

a probability of further seizures similar to the general recurrence risk (at least 60%) after two unprovoked seizures, occurring over the next 10 years

(3) Diagnosis of an epilepsy syndrome

Page 3: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Introduction Term Epilepsy Syndrome has been used by

ILAE to refer to “a complex of signs and symptoms that define a unique epileptic condition.”

Epilepsy syndromes denote specific constellations of clinical seizure type(s), EEG findings, other characteristic clinical features such as age at onset, course of epilepsy, associated neurologic and neuropsychological findings, and underlying pathophysiologic or genetic mechanisms.

Page 4: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Introduction Identification of a specific syndrome is important

to define the best treatment and accurately prognosticate long-term outcome.

Idiopathic (primary) – presumed etiology is genetic

Symptomatic (secondary) types – underlying etiology is known or presumed based on other evidence of brain dysfunction, such as developmental delay.

Generalized seizures vs. Localization-related seizures.

Page 5: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.
Page 6: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Benign Familial Neonatal Seizures

Typically present during the first few weeks of life

Focal, multifocal, or generalized seizures Seizures are brief but occur 20 – 30 times

per day Seizures may be difficult to control

Page 7: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Benign Familial Neonatal Seizures

Normal neurologic exam No specific EEG features Family history of similar neonatal seizures

is important for diagnosis Autosomal dominant with 85% penetrance Linked to voltage gate potassium channels

KCNQ2 and KCNQ3 on chromosomes 20q and 8q

Page 8: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Benign Familial Neonatal Seizures

Outcome generally favorable Resolution of seizures typically in early to

midinfancy Normal neurodevelopment 8-16% of patients will later develop

epilepsy as adults

Page 9: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Benign Idiopathic Neonatal Seizures Healthy, neurologically normal term

neonates Seizures typically begin on the fifth day of

life or “fifth day fits” Partial clonic seizures that migrate,

increase in frequency and culminate in status epilepticus

Page 10: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Benign Idiopathic Neonatal Seizures No specific EEG features There is no family history of seizures Seizures typically resolve after 24 hours Children have normal neurodevelopment No increased risk of seizure recurrence

Page 11: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Generalized (Genetic) Epilepsy with Febrile Seizures Plus Characterized by febrile and afebrile

seizures Febrile seizures continue beyond the

typical age of remittance, 6 years Afebrile seizures are infrequent, brief, and

include generalized tonic-clonic, myoclonic, complex partial and atonic seizures.

Page 12: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Generalized (Genetic) Epilepsy with Febrile Seizures Plus Seizures start 4 months and 10 years, with

mean onset of 2 years Prior to onset of afebrile seizures, GEFS+

can be difficult to distinguish from febrile seizure

Careful family history is important

Page 13: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Generalized (Genetic) Epilepsy with Febrile Seizures Plus Interictal EEG may be normal or

demonstrate generalized epileptiform discharges

Genetically heterogenous autosomal dominant with 60-80% penetrance

Within families multiple phenotypes with variable severity exist

Page 14: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Generalized (Genetic) Epilepsy with Febrile Seizures Plus Multiple gene mutations linked to GEFS+

including 19q13.1 (SCN1B gene), 2q23-24.2 (SCN1A gene) and 5q31.1-33.1

Excellent prognosis in most children Seizures typically spontaneously remit by

age 11 years Up to 30% may have more severe

epilepsy

Page 15: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Myoclonic Astatic Epilepsy of Doose Rare, affecting 1:10,000 Presents in previously neurologically

healthy preschool-aged children Multiple seizure types including

generalized tonic clonic, myoclonic, absence, atonic, myoclonic, myoclonic atonic

Myoclonic atonic seizures most prominent

Page 16: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Myoclonic Astatic Epilepsy of Doose Outcome and course are variable – complete

remission to intractable epilepsy with poor cognitive outcome

EEG demonstrates 2-3Hz spike and wave discharges

Up to 32% of children have a family history of epilepsy

Inheritance pattern is unknown

Page 17: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Childhood Absence Epilepsy Comprises 2-15% of childhood

epilepsy Onset is usually 4 and 10 years of age Girls 2-5 times more likely to have

absence Most patients with childhood absence

have normal neurological exams and normal intelligence scores

Page 18: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Childhood Absence Epilepsy

Inherited in autosomal dominant pattern with incomplete penetrance chromosomes 20q, 16p13.3, and 8q24.3

Caused by abnormalities in T-type calcium channels, which are responsible for rhythmic depolarizing activity in the thalamic neurons

Page 19: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Childhood Absence Epilepsy Generalized type of seizure Characterized by sudden

discontinuation of activity with loss of awareness, responsiveness, and memory, with an abrupt recovery

Automatisms, brief clonic jerks, and loss of postural tone can also be seen

Page 20: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Childhood Absence Epilepsy

Usually lasts 5 to 10 seconds Up to hundreds of seizures per day Seizures can be provoked by

hyperventilation in approximately 90% of children

Page 21: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Childhood Absence Epilepsy

Classic EEG finding in typical absence seizures is the sudden onset of 3-Hz generalized symmetrical spike and wave complexes

Interictal EEG background is normal

Page 22: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Childhood Absence Epilepsy

Normal EEG

Page 23: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Childhood Absence Epilepsy

Absence Seizure

Page 24: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Childhood Absence Epilepsy

Most children only experience absence seizures

3% will experience generalized tonic-clonic seizures

Page 25: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Childhood Absence Epilepsy With typical absence seizures, if

consistent EEG, normal intelligence, and normal neuro exam, no further work up is necessary

Primary drugs of choice are ethosuximide (Zarontin), valproic acid (Depakote), and lamotrogine (Lamictal)

Most clinicians start with ethosuximide (T-type calcium channel blocker) because of fewer incidence of side effects

Page 26: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Childhood Absence Epilepsy Valproic acid is the drug of choice in

patients with both absence and generalized tonic-clonic seizures

Lamictal is a safer choice for female teens

Duration of therapy is variable, although general rule is to taper off therapy after 2 seizure free years

Page 27: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Childhood Absence Epilepsy Absence status epilepticus is

characterized by sustained impairment of consciousness associated with generalized 3-Hz spike and wave

Patients often exhibit facial twitching, eye blinking, staring and automatisms

Treatment is usually with IV lorazepam or Depakote (not Dilantin)

Page 28: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Childhood Absence Epilepsy

Children with early onset (mean age 6) have the best prognosis with complete remission 2 to 6 years after onset

Onset of absence seizures before age 3 years is associated with increased likelihood of neurodevelopmental abnormalities

Page 29: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Childhood Absence Epilepsy

Average age of cessation is 10 years old

Typical absence seizures generally have a favorable prognosis with remission rates of approximately 80 percent

Can precede juvenile myoclonic epilepsy in 11-18% of cases

Page 30: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Childhood Absence Epilepsy

Risk factors for intractability: myoclonic or atonic component to seizure, generalized tonic clonic seizures occur at onset and photosensitivity on EEG

Page 31: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Juvenile Absence Epilepsy Onset is typically between ages 10 and 16 Clinical seizures similar to CAE Seizures occur less frequently and may be

longer duration More likely to experience generalized tonic

clonic seizures Interictal EEG, 3.5-4Hz spike and

polyspike and wave Response to treatment good, but may be

lifelong

Page 32: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Juvenile Myoclonic Epilepsy Affects 4 to 10% of all patients with

epilepsy and up to 26% of patients with idiopathic generalized epilepsy

Seizures typically present between 12 and 18 years

Inheritance is complex Classic form is likely autosomal dominant

and inherited and linked to 6p12-11

Page 33: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Juvenile Myoclonic Epilepsy

Commonly 1st seizure noted is a GTC in setting of sleep deprivation

Careful questioning will reveal a history of myoclonic seizures and possible absence seizures in the preceding months

Occurs in both genders with equal frequency

Page 34: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Juvenile Myoclonic Epilepsy Seizure types include generalized tonic-

clonic, myoclonic, and absence 100% have myoclonic seizures, 96%

have GTC, and only 20% with absence Generalized tonic-clonic and myoclonic

seizures tend to occur in morning upon awakening

Seizures are precipitated by sleep deprivation, alcohol ingestion and in women, menstruation

Page 35: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Juvenile Myoclonic Epilepsy

Myoclonic seizures are brief and bilateral, flexor jerks of the arms, which may be repetitive

Jerks sometimes affect the legs, causing the patient to fall

Consciousness is not impaired during myoclonic seizures

Page 36: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Juvenile Myoclonic Epilepsy Delays in diagnosis are common, often

until a generalized tonic-clonic seizure brings the child to medical attention

Interictal EEG in JME consists of generalized spike and polyspike-and-wave discharges of 4 to 6 Hz, usually maximal in the frontocentral regions

Photic stimulation often provokes a discharge (30 to 90%)

Page 37: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Juvenile Myoclonic Epilepsy

Generalized Polyspike and Wave Discharge

Page 38: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Juvenile Myoclonic Epilepsy Traditional treatment was valproic acid with

85%-90% response but many side effects Newer effective drugs include

levetiracetam, lamotrogine, topiramate and zonisamide

Carbamazepine, phenytoin and gabapentin may exacerbate seizures

Response to treatment is excellent but treatment is lifelong

Page 39: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Benign Childhood Epilepsy with Centrotemporal Spikes (BCECTS) Most common form of idiopathic partial

epilepsy Accounts for 13%-23% of all childhood

epilepsies Although it is clearly familial, its mode of

inheritance is unclear Onset is between 4 and 10 years Peak age of onset is 7-8 years Children are neurologically and cognitively

normal

Page 40: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Benign Childhood Epilepsy with Centrotemporal Spikes (BCECTS) Nocturnal seizure, usually occurring after

falling asleep or before awakening is typical Seizures described as unilateral

paresthesias of the face, unilateral clonic or tonic activity involving the face, speech arrest, drooling with preserved consciousness

Can have secondarily generalized tonic-clonic seizures

Page 41: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Benign Childhood Epilepsy with Centrotemporal Spikes (BCECTS)

EEG background is normal Spikes are present at the midtemporal

and central (centrotemporal) head region

Marked activation of spikes in drowsiness and sleep is characteristic, and 30% of cases show spikes only during sleep

Page 42: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Benign Childhood Epilepsy with Centrotemporal Spikes (BCECTS)

EEG Findings BCECTS

Page 43: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

EEG Findings BCECTS

Page 44: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Benign Childhood Epilepsy with Centrotemporal Spikes (BCECTS) If typical history, normal neuro exam, and

characteristic EEG findings, an MRI is not necessary

No treatment is necessary in patients with infrequent, nocturnal, partial seizures

If seizures are frequent (20%)and disturbing to patient and family, treatment with Tegretol or Trileptal is usually successful

Page 45: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Benign Childhood Epilepsy with Centrotemporal Spikes (BCECTS) Excellent prognosis Spontaneous remission occurs by age 15

to 17, often much earlier Some children may develop language,

cognitive or behavioral deficits which improve after remission

Page 46: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Panayiotopoulos Syndrome Early-onset benign childhood epilepsy

with occipital paroxysms Average age of 3-6 years Normal development Characterized by nocturnal seizures in

two-thirds, with tonic eye deviation, vomiting (autonomic) and impaired consciousness

Hemiconvulsions and GTC seizures are common

Page 47: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Panayiotopoulos Syndrome Interictal EEG shows normal background

with high-amplitude occipital spike-wave complexes on eye closure

Seizures are infrequent and one third of patients will only have a single seizure

Paradoxically, seizures are frequently prolonged (status epilepticus)

Excellent prognosis –seizures usually cease within 2 years onset

Treatment with medication is not necessary

Page 48: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Late-Onset Childhood Epilepsy with Occipital Paroxysms - Gastaut Syndrome

Rare condition Ages 6-12 years, average 8 years 21-37% of cases have family history of

epilepsy.

Page 49: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Seizures characterized by visual hallucinations or ictal blindness often with gaze deviation or eyelid fluttering

Often followed by postictal headache Focal seizures often evolve into

hemiconvulsions or GTC seizures Seizures more frequent but shorter

duration

Late-Onset Childhood Epilepsy with Occipital Paroxysms - Gastaut Syndrome

Page 50: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Late-Onset Childhood Epilepsy with Occipital Paroxysms - Gastaut Syndrome EEG –normal background, interictal

occipital high amplitude spike wave with attenuation on eye opening

Ictal recordings show fast occipital spikes

Page 51: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

EEG Findings Childhood Epilepsy with Occipital Paroxysms

Page 52: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Late-Onset Childhood Epilepsy with Occipital Paroxysms - Gastaut Syndrome

Brain MRI is normal (neuroimaging is recommended)

Seizures respond well to carbamazepine 50-60% have seizure remission within 2-4

years

Page 53: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Infantile SpasmsOccurs almost exclusively in infants

younger than 1 year of age Incidence is 1 in 4,000 to 6,000

birthsSpasm onset is usually within the

first 4-8 months of lifeFamilial occurrence is rare

Page 54: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Infantile Spasms Seizures typically described as brief,

symmetrical contractions of the neck trunk, and extremities

Flexor or extensor muscles can be involved

Asymmetrical infantile spasms are rare Spasms frequently occur immediately

upon, or soon after, arousal 80% of spasms occur in clusters

Page 55: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Infantile Spasms Interictal EEG is characterized

hypsarrhythmia defined as high voltage slow waves and multifocal spikes

In a small number of infants, the background activity may appear normal

Most common ictal pattern is characterized by generalized slow wave transient followed by attenuation of background activity

Page 56: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Infantile Spasms

Hypsarrhythmia

Page 57: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Infantile Spasms Etiologies of infantile spasms can be

determined in 60%-90% of cases Tuberous sclerosis is a major cause of

infantile spasms (up to 25%) Other etiologies include: lissencephaly,

Sturge-Weber, HIE, meningitis, and inborn errors of metabolism

A minority of infants have idiopathic infantile spasms

Page 58: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Infantile Spasms

First line is ACTH but has many side effects

Vigabatrin, Prednisone, and Topamax are also effective drugs

A challenge with a 100mg of IV pyridoxine should be considered in idiopathic cases

Page 59: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Infantile Spasms Overall prognosis is poor, with only

5% of the total patient population having normal outcomes

Severe or very severe impairment was observed in 67% of patients

Only factor that seems to effect long-term outcome is whether the patient is classified as cryptogenic (unknown) or symptomatic

Page 60: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Lennox Gastaut Syndrome

Classic Triad: 1.Multiple seizure types (tonic, atonic, and atypical absence)

2.EEG pattern of slow spike and wave discharges

3.Cognitive Impairment

Page 61: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Lennox Gastaut Syndrome

Onset usually between 1 and 8 years

Most cases between 2 and 5 yearsOnset rare after 10 yearsMales > females10% of childhood epilepsies

Page 62: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Lennox Gastaut Syndrome

Neurological symptoms may be absent initially

9-39% preceded by infantile spasms

High seizure frequency At least 1 episode of status in

50%-75%

Page 63: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Lennox Gastaut Syndrome

No single cause2/3 symptomatic (cortical

dysplasias, TS, metabolic, prenatal/perinatal)

Cryptogenic (unknown cause) LGS with normal brain MRI accounts for 1/3 cases

Page 64: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Lennox Gastaut SyndromeTonic Seizures:

1.Most characteristic – prerequisite

2.Flexor movement of the head and trunk with apnea preceded by brief cry (axial)

3.Abduction, elevation of limbs, usually arms with clenching of the fists (axorhizomelic)

4.Sustained contraction involving most

muscles, including distal (global)

Page 65: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Lennox Gastaut Syndrome

Atypical Absence:

1.Second most common type

2.Brief loss/lapse of consciousness

3.Difficult to identify

Page 66: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Lennox Gastaut SyndromeAtonic Seizures:

1.“Drop attacks”

2.Particularly hazardous

3.56% of patientsOther types:

1.Focal

2.GTC

3.Unilateral Clonic

Page 67: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Lennox Gastaut SyndromeEEG Findings in LGS:1.Slow background2.Diffuse slow-spike and wave, 1.5 - 2.5Hz3.Paroxysmal Fast Activity4.Focal or multifocal discharges in 14%-18%5.75% of electroclinical persists to adult

Page 68: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Lennox Gastaut Syndrome

Slow Spike and Wave

Page 69: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Lennox Gastaut Syndrome

Paroxysmal Fast Activity

Page 70: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Lennox Gastaut Syndrome

Seizures resistant to therapy Drugs used in combination, mostly guided by

anecdotal evidence or personal experience AED may help control one seizure type while

worsening another First line AEDs are Valproic Acid and

Benzodiazepines Rufinamide and Felbamate

Page 71: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Lennox Gastaut SyndromeOverall, unfavorable prognosisWorse prognosis: 1.Symptomatic 2.Infantile spasms3.Early onset seizures4.Higher seizure frequency5.Constant background slowing

Page 72: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Dravet Syndrome

Rare Incidence of 1 in 20,000 to 40,000 Approximately 80% of cases have

mutation in SCN1A (sodium channel) Vast majority of mutations are sporadic Close relatives have a higher rate of

seizures (GEFS+)

Page 73: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Dravet Syndrome

Begins in the first year of life in previously well infant

Generalized or focal clonic seizure is often prolonged

Onset frequently triggered by fever, infection, vaccination or warm bath

Progression to further recurrent prolonged focal seizures with and without fever

Page 74: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Dravet Syndrome

End of second year through age 5, myoclonic jerks appear

Atypical absence and complex partial seizures with autonomic symptoms occur in 50% in preschool years

Tonic seizures are rare

Page 75: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Dravet Syndrome

Initial EEG is typically normal Over time, background slows Multifocal and generalized polyspike and

wave discharges appear Epileptiform discharges activated by

drowsiness and photic stimulation MRI normal early, later shows atrophy

Page 76: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Dravet Syndrome

Infants are developmentally normal at onset

Regression or lack of progression is seen between 1 and 4 years, stabilization after at lower level

Visuomotor skills more affected than language

Page 77: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

Dravet Syndrome Seizures are medically refractory Valproic Acid and clobazam are first line Second line AEDs include topiramate,

levetiracetam and zonisamide Lamotrigine and carbamazepine should be

avoided – can aggravate seizures Mortality rate 16-18% (status, SUDEP,

drowning)

Page 78: Pediatric Epilepsy Syndromes Stefanie Jean-Baptiste Berry, MD Pediatric Neurologist/Epileptologist Northeast Regional Epilepsy Group.

References Wirrell, Elaine and Nickels, Katherine C.

Pediatric Epilepsy Syndromes. Continuum Lifelong Learning Neurology 2010; 16(3) 57-85.

Ebersole and Pedley, Current Practice Of Clinical Electroencephalography. Third Edition 2003.

Menke, Sarnat and Maria. Child Neurology. Seventh Edition. 2006

Pellock, Dodson and Bourgeois. Pediatric Epilepsy: Diagnosis and Therapy. Second Edition. 2001


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