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Epilepsy Syndromes
Maja Ilic, MD
Epileptologist
Northeast Regional Epilepsy Group
What is seizure and what is
epilepsy?
• SEIZURE
- Physiological: Manifestation of an abnormal
and excessive synchronized discharge of a set
of neurons
- Clinical: Stereotypical, usually unprovoked,
disturbance of consciousness, behavior,
emotion, motor function or sensation as a
result of the cortical neuronal discharge
• EPILEPSY: 2 or more seizures

Provoked seizures
•
•
•
•
•
•
•
High fever, febrile seizures
Massive sleep deprivation
Excessive use of stimulants
Withdrawal from sedative drugs or alcohol
Electrolyte disturbance
Hypoxia
Acute neurological illness
Epidemiology




> 2 million people in US
125,000 new cases per
year
Cumulative incidence of
epilepsy by age 80 = 3.1%
Cumulative incidence of
seizures by age 80 = 11%
Many patients outgrow
their epilepsy
Epilepsy cases per year per
100,000

90
80
70
60
50
40
30
20
10
0
0-9 10-- 20- 40- 60+
19 39 59
Age group (years)
Historical background:

In an attempt to encompass a broader
range of clinical features than is possible
in a classification of seizure type –
ILAE published a Classifications of
Epilepsies and Epileptic Syndromes in
1985 and revised it in 1989
Epilepsy syndromes


Syndrome is a cluster of signs and symptoms that
occur together but unlike a disease do not have a
single known cause or pathology.
Epileptic syndrome integrates all data, seizure
type, EEG findings, age of onset, cause, family
history, imaging studies, precipitating factors, etc.
in order to make a final diagnosis of epilepsy.
Most Common Epilepsy Syndromes in
Children

Childhood Absence Epilepsy

Juvenile Absence Epilepsy

Juvenile Myoclonic Epilepsy

Benign Epilepsy of Childhood with
Centrotemporal Spikes
(Benign Rolandic Epilepsy)
Childhood Absence
Epilepsy
Absence Epilepsy


Generalized seizures
Most common in the first decade,
particularly ages 5-7 years of age

Clinical features
•
•
•
•

Usual duration – 10 seconds
Ongoing activities cease
Motionless with a fixed blank stare
Attack ends suddenly, activity resumes
Clinical features
Occasionally – mild clonic activity of eyelids,
corner of mouth
• Automatisms – elevation of eyelids, licking, swallowing,
scratching movements of hands
Absence Epilepsy


-
Most patients with typical absence have normal
development and normal neurological exam
Generalized spikes on EEG
Precipitated by hyperventilation in all untreated
patients
- Photic stimulation – 15%
Absence Epilepsy

10% family history

Average age when seizures stop is 10 years old

Generally have a good prognosis –
resolves in ~ 80 percent of cases

Treatment:
• Ethosuximide
• Depakote
Suppress absence in 80%
• Lamotrigine
Absence Epilepsy
Typical
Atypical

Simple automatisms

Complex automatisms

3 Hz spike-slow wave

Slower, 2.5 Hz spike-slow wave

No other seizure type

Focal and GTC seizures

Normal exam

Developmental delay

Normal background EEG

Abnormal background EEG
Juvenile Absence Epilepsy
Juvenile Absence Epilepsy

Age of onset
 Near or after puberty
 Between 10-17 years
 Normal intelligence & neurological exam
Juvenile Absence Epilepsy

Seizures types
 Absences
 Generalized tonic-clonic seizures- in 80%
(often shortly after waking)
 Myoclonic seizures- in 15%

GTC and myoclonic seizure more common and most likely to
happen with awakening
Juvenile Absence Epilepsy


EEG
 Normal background
 Generalized spike & wave discharges (faster, 4 Hz)
 Induced by HV, not photic stimulation
Treatment
 Depakote
 Lamictal
Juvenile Absence Epilepsy

Prognosis
 At least 80% of patients can be treated with
Depakote alone
 Absences and GTC usually respond well to
pharmacotherapy
 Unlike CAE (in which most patients become
seizure free) the long term evolution of JAE
has not been properly characterized
Juvenile Myoclonic
Epilepsy
Juvenile Myoclonic Epilepsy


Incidence
• 10% of all epilepsies
Age of onset
• 12–18 years
• Age of onset differs from age of diagnosis
Juvenile Myoclonic Epilepsy

Myoclonic jerks, generalized tonic-clonic
seizures, and sometimes absence seizures
• Myoclonic seizures
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Jerks of neck, shoulder, arm or leg extensors
Usually bilaterally symmetric & synchronous
More in upper extremities
Drop objects, interfere in morning activities
Juvenile Myoclonic Epilepsy

Usual age at onset:
- Absence seizures is 7 -13 years;
- Myoclonic jerks, 12- 18 years;
- Generalized convulsions, 13 - 20 years
Juvenile Myoclonic Epilepsy

More likely to have seizures with sleep deprivation and
alcohol ingestion

Risk for seizures is lifelong
Seizures recur when AEDs withdrawn

Photic stimulation often provokes a discharge

Seizures are usually well-controlled (Depakote, Lamictal)

Benign Epilepsy of Childhood with Centrotemporal Spikes
Benign Rolandic Epilepsy
BECT

Age of onset
• Range 2 – 13 years
• 80% between 5 – 10 years (Peak 9 years)

Typically resolves by age 16 years

Normal intelligence and neurological exam

Seizures usually happen after falling asleep or
before awakening (75%)
BECT

Most characteristic symptoms
• Sensorimotor phenomena of face
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
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Oropharyngeal – Hypersalivation, guttural sounds,
contraction of jaw, difficulty moving the tongue etc
Speech arrest
Clonic jerks at corner of mouth
Clonic jerks of one arm

No loss of consciousness

Can have secondarily generalized convulsions
BECT



EEG: Spikes in midtemporal and central head
region
More spikes in drowsiness and sleep
30% of cases show spikes only during sleep
BECT
BECTS spontaneously stop with or without treatment
(good prognosis)

If seizures are frequent and/or disturbing to patient and
family, treatment with Tegretol or Trileptal (until 14-16,
response)
• AEDs given in about 50% of cases
• Features suggesting risk of repeated seizures


Short interval between 1st & 2nd attacks
Early onset
Febrile Seizures
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Up to 4% of children
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Not epilepsy
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Often a family history, 10%
(chromosomes 8q, 19p)
Seizures only occur with fever in children age 6
months – 6 years
Febrile Seizures
Simple
- 1 brief seizure (generalized)

Complex
– Prolonged
- More than 1
- Focal
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Febrile seizures

-
13% incidence of epilepsy if at least 2 factors:
History of non-febrile seizure
Abnormal neurological exam or development
Prolonged febrile seizure
Focal febrile seizure
Febrile seizures

-
Recurrence risk:
Children with simple FS 30%
Children with complex FS 50%
Risk of epilepsy:
- With history of simple FS 2-4%
- With history of complex FS 6%
Febrile Seizures
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Increase risk of recurrence if 1st before 18
months or lower temperature
Focal need MRI, EEG
Testing unnecessary with simple
Treatment usually not necessary
Epilepsy Prognosis:
Depends on seizure type:


Typical Absence – 80% resolve
JME- respond well to treatment but need
meds for life
Neurologically abnormal often difficult to control seizures
Drug Refractoriness of Different Seizure Types
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Idiopathic partial
Childhood absence
Juvenile absence
Primary GTCS
Secondary GTCS
CPS
LGS
Infantile spasms
0-2%
10-30%
10-35%
20-30%
30-60%
40-60%
60-80%
60-80%

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Most patients (>70%) will have excellent seizure
control with medications
Some patients will continue to have seizures
despite good medical therapy
• Ketogenic diet
• Vagal nerve stimulator
• Epilepsy surgery
Treatment Goals
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Prevent recurrence of seizures
Avoid side effects from AEDs
Attain “therapeutic levels”
Ensure compliance
General Guidelines for Use of AEDs
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Select AED specific for seizure type and EEG
findings
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Start with single drug
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Optimize AED
• Balance seizure control vs. toxicity
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Add second drug if first fails
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Anticipate medication interactions
When to Treat After Single Seizure?
Definitely

With structural lesion
• Brain tumor
• Arteriovenous
malformation
• Infection, such as abscess,
herpes encephalitis

Without structural lesion
• EEG with definite epileptic
pattern
• History of previous seizure
• History of previous brain
injury
• Status epilepticus at onset
Possibly

Unprovoked seizure
Probably not (although shortterm therapy may be used)

Alcohol withdrawal
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Drug abuse
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Seizure in context of acute
illness

Postimpact seizure
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Specific benign epilepsy
syndrome
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Seizure provoked by
excessive sleep deprivation
Medications
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Trileptal, Tegretol, Keppra, Depakote,
Lamictal, Phenobarbital,Topamax,
Ethosuximide…
Choice based on type of seizures, EEG
findings, side effects, age and sex
2nd AED may be added if seizures not
controlled
Newer antiepiletic medications:

Lacosamide (Vimpat)
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Vigabatrin (Sabril)
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Rufinamide (Banzel)
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Perampanel (Fycompa)
Conclusion:


Seizure type and diagnosis are only one element
of a more comprehensive patient assessment
that should result in a precise epilepsy syndrome
diagnosis
Only an accurate diagnosis of a specific epilepsy
syndrome allows patients and physicians to
examine all treatment options
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www.epilepsyfoundation.org
www.epilepsyadvocate.com
www.paceusa.org
www.epilepsy.com