Objectives
Paediatric epilepsies and  Have a systematic approach in epilepsy
classification
Associate Professor Dr Fong Choong Yi
Consultant Paediatric Neurologist
University Malaya
The extent of epilepsy misdiagnosis
• Holland tertiary epilepsy centre referred by
Paediatricians and GPs ~40%
• UK population based study ~22%
• Other studies report ~10-30%
• Accuracy of epilepsy diagnosis location
dependent:
– Expertise / education of primary care specialists
– Access to tertiary epilepsy service
Definitions
 Convulsion
= sz characterised by marked motor activity (eg:
jerking / stiffness; may be epileptic or non-epileptic)
 Epileptic seizure
=transient clinical manifestation of a cerebral
dysrhythmia (excessive +/- hypersynchronous
abnormal activity of cerebral neurons)
 Epilepsy
=recurrent epileptic seizures (≥2 more sz) which are
not provoked by systemic / acute neurological insult
 Use DESSCRIBE approach
 Have a basic knowledge of seizure semiology
 Introduce classification of epilepsy
 Understand importance of epilepsy syndromic
classification
 Have basic knowledge of common epilepsy
syndromes
Reasons for misdiagnosis of epilepsy
• Diagnosis is based on history (+/- video) and there is
usually NO confirmatory test
• The EEG is abused
• These is a large differential diagnosis
• Many clinicians approaching paroxysmal disorders do
not have sufficient knowledge of epileptic and non-
epileptic disorders
• False perception that to miss a diagnosis carries grave
risks
Why is classifying epilepsy important?
 Children & family need a:
-diagnosis
-prognosis
-management plan (specific & precise to pt)
 Diagnosing epilepsy is not enough!!!
 Short and long term management of specific
epileptic syndrome differs markedly
 Can direct investigations and appropriate Tx
Evolution of Epilepsy Classification
Proposals for classification
– 1970
Seizures - 1981
„Syndromes‟ - 1989
New classification 2010,
2012
Types of seizures
Constellation of features
describing type of epilepsy,
prognosis
Streamlined terms,
acknowledgement of newer
advances (genetics/imaging)
Descriptors of effects of
seizures
How Epilepsy is classified
Based on combination of:
• Description of seizure semiology
– absence, tonic-clonic etc
• Causes of the seizures
• Results of investigations
- Brain MRI
- EEG results
- Genetic results
• Effects seizures may be having on cognition

How do I approach epilepsy? How do I approach epilepsy?

“the DESSCRIBE approach”
 Axis 1: D escription
 Axis 1: Describing semiology (is it sz?)
E pileptic or non-epileptic episode(s)?
 Axis 2: Define sz type
 Axis 3: Seizure syndrome  Axis 2: S eizure type(s)?
 Axis 4: Underlying aetiology  Axis 3: S yndrome
 Axis 5: Characterise additional impairments  Axis 4: C ause
 Axis 5: R elevent;
ILAE task force, Epilepsia 2001 I mpairment
B ehavioural and emotion
E ducation issues?

Axis 1-Semiology (Description) Ictal semiology: motor sz

 Myoclonic jerks: v. brief muscular contractions that
 Minor sz are more important than the major occur singly / repeated only a few times (<100ms)
ones for an appropriate diagnosis & Tx (yet the  Spasms: widespread muscular contractions (< 2sec)
are usually ignored!)
 Tonic: sustained muscle contraction (few sec–mins)
 Semiology = describing witness account of sz  Clonic: rhythmic myoclonus / repetitive myoclonus
 Need to attempt to differentiate between ictal involving same muscle groups approx 2-3 c/sec
(epileptic) & non-ictal attacks  Atonic: sudden loss of erect posture
 Key is taking a good Hx: -pre ictal  Automatism: repetitive stereotypical voluntary motor
activity when cognition impaired
-ictal
- Simple - Complex
-post ictal
 Postural changes: adoption of posture (symmetrical
/ asymmetrical)
 Ictal semiology: Non-motor sz Axis 1-Semiology (Epileptic sz or not)
 Dycognitive: altered conscious level  Need to decide if epileptic sz
 Somatosensory
 Crucial as 25% of patients misdiagnosed as
 Visual
epileptic
 Olfactory
 Gustatory  There are no gold standard investigative tool to
diagnose epilepsy (EEG, MRI ….. only
 Auditory
supportive to confirm clinical suspicion)
 Autonomic
 Good clinical history taking cornerstone of
diagnosis of epilepsy

Axis 1-Semiology (Epileptic sz or not) Axis 2 – Seizure type

 After taking history of event (patient and  Epileptic seizures are usually divided into
witnesses); is it consistent with epileptic sz? generalised and focal (also called partial or
- Yes: appropriate Mx, consider Ix (EEG, MRI, localization-related) epileptic seizures
etc)
Q. What is the essential difference between these?
- No: Consider differential diagnosis, +/- other Ix
-Uncertain: wait & see, need more info & time,
observing natural Hx important but takes time

 If not sure: say “unexplained paroxysmal event”

 If not clear Hx, better to observe patient rather
than rush into diagnosis

Axis 2 – Seizure type Axis 2– Generalised epilepsy seizure

A. A generalised epileptic seizure is: Main types of generalised epileptic seizures are:
• Generalised tonic clonic seizures
“A seizure whose initial semiology indicates, or is
consistent with, more than minimal involvement of • Tonic seizures
both cerebral hemispheres” • Clonic seizures
• Atonic seizures
A focal epileptic seizure is:
• Myoclonic seizures
“A seizure whose initial semiology indicates, or is • Absence seizures
consistent with, initial activation of only part of – Typical
one cerebral hemisphere”
– Atypical
– With special features: myoclonus, eyelid myoclonia
• Spasms
 Axis 2 – Focal Epileptic Seizures Axis 2 – Focal Epileptic Seizures
„Simple partial‟ „Simple partial‟
No change in consciousness No change in consciousness

Focal seizures with main symptoms

Partial Partial
(sensory, visual, autonomic,etc)
Focal

„Complex partial‟ „Complex partial‟

Alteration in consciousness Alteration in consciousness

Focal Dyscognitive Seizures

Axis 2 – Focal Epileptic Seizures Axis 2 – Focal Epileptic seizures

Previously: Motor functions Simple sensation
• Simple partial (focal)
Higher intellectual Spatial body perception
• Complex partial (focal) functions

Now:
Either according to main symptom
Emotion
• Motor (clonic / tonic) • Autonomic
• Sensory • Visual Hearing Vision
Or According to where in the brain they arise Smell
• Frontal lobe
• Temporal lobe
Vision Emotion
• Parietal lobe Motor functions
• Occipital lobe Simple sensation Hearing Higher intellectual
Spatial body perception Smell functions

Axis 3 – Syndrome Clinical features in diagnosis of

 Milestone in modern epileptology Sz syndrome
 Provides the foundation for:  Type of seizures
- short & long term therapy
- Able to predict natural history, inheritance, prognosis
 Age of onset
 May not always be possible -Neonatal to 1yr - 1 to 4yrs
-new syndromes constantly in development -4 to 10yrs -10yrs to adolescence
 EEG
 Axis 3 – Traditional Sz Syndrome New changes in the ILAE
classification of the Epilepsies
Generalised Focal
• Idiopathic → genetic
(bilateral) (localisation related)
• Symptomatic → structural, metabolic,
(auto)immune, infectious
Secondary generalisation
• Cryptogenic → abandoned replaced with
unknown cause
Idiopathic (primary) Symptomatic
-self originating Probably symptomatic (secondary)
• Distinctive electroclinical syndromes
(crytogenic)
-‘normal’ brain -‘abnormal’ brain - Migrating partial epilepsy infancy, Lennox Gastaut
-good prognosis -onset any age syndrome, PME, LKS, etc

-age dependent -variable prognosis

When do I request an EEG to When to avoid EEG !!

assist in epilepsy diagnosis?
 Usually after 2nd seizure
 Rarely after 1st apart from:
 Status epilepticus
 Seizure syndromes that are unlikely to come singly!!!
-absences -myoclonic
 Developmental regression
 Funny turns, dizzy spells
 Syncopal episodes, reflex anoxic sz, breath
holding attacks
 Febrile seizures
-atonic drops
 One brief uncomplicated afebrile tonic / clonic sz
 Child with global developmental delay (apart from
Angelman, Rett‟s)
 Before anti-epileptic drug withdrawal
 Autism

Role of EEG in diagnosis

Don‟t overvalue
 10% of normal population
nave non-specific EEG
 1-3% normal individuals
have epileptiform EEG
 30-40% epileptic have
normal inter-ictal EEG
 Never use EEG to
diagnose epilepsy!!
 Just a tool to aid diagnosis
/ Mx
Don‟t under-estimate
Able to differentiate focal
from generalised
Identify features of specific
epilepsy syndromes
Identify precipitating factors
Able to confirm sz
diagnosis
Role of MRI in diagnosis
 History or EEG suggesting focal onset
 Onset 1st year of life
 Focal fixed neuro deficit
 Not controlled with monotherapy
 Developmental delay / regression
 Worsening sz control (implying progressive
underlying lesion)

EEG is not the ultimate answer in epilepsy

management!
 Axis 5: “Relevant Impairments, Behavioural &
Axis 4- Cause of epilepsy
emotional or Educational probs
 Generalised epilepsies:
- Genetic / hereditary causes  Majority of children with attend mainstream school; but
studies suggest 50% have some behavioural problem /
- Metabolic disorders
receive educational input
- Some structural brain abnormalities
 Focal epilepsies:  Specific sz syndromes (especially symptomatic)
predispose child to behavioural impairments:
- Underlying structural pathology
- Genetic / Functional abnormality (BECTS, -Infantile spasm, Complex focal: ASD, ADHD
ADNFLE, LKS) -L Gastaut: social unresponsive, violent behaviours
-BECTS: attention deficit, mild cognitive problem

Example ILAE approach

 5 Axis Example: Genetic influences Post-traumatic Epilepsies
100%
Environment
1. (DE) Sz semiology 1. Cry out, trunk flexion

2. (S) Epilepsy type 2. Generalised, tonic

Polygenic Epilepsies

3. (S) Epilepsy syndrome 3. Epileptic encephalopathy-

infantile spasm
4. (C) Cause
4. Tuberous sclerosis Monogenic Epilepsies
5. (RIBE) Additional
impairments 5. Developmental delay,
autistic features 100 % Genes Higher rate of epilepsy in relatives
of those with genetic forms of epilepsy
Higher rate in twins (not 100%)

Epilepsy Classification Genetic forms of Epilepsy

• Genetic • Previously referred to as „Idiopathic‟

• Encompass a large number of seizure syndrome
types
• Not all genetic mechanisms have been
• Structural/Metabolic
elucidated
• Some forms associated with favourable seizure
and developmental outcome, others not
• Unknown Cause • Can be classified in terms of age of onset
 Genetic forms of Epilepsy Case 1
 9 yr old girl
Childhood onset (generalized seizures)  6/12 Hx of vacant episodes: eyelid flutter & eyes roll
Peak age of
 Last 10 – 20 secs
Features
Type onset  Inattentive both in school & at home
5-6 yrs
Childhood Absence Convulsive
Epilepsy seizures less
common, often
7-10 yrs remit
Juvenile Absence
Epilepsy

10-12 yrs Myoclonus,

Juvenile Myoclonic Convulsive
Epilepsy seizures common
Lifelong need for
medications

Childhood absence seizure

 Common (5-12% of childhood epilepsy)
 Mainly 3-12yrs (peak 6-7yrs)
 Prognosis: good
 AED of choice: sodium valproate
 Typical absence:
-lasts 5-20secs -abrupt onset & offset
-usually many times /day
-may be with simple automatism (lip smacking, eyelid blinking)
-hyperventilation often ppt events
 EEG:
 Ictal- generalised, symmetrical 2.5 – 3.5 Hz spike wave, abrupt
onset & offset
 Interictal- paroxysmal single or brief generalised spike-wave
discharges

Blank spells versus absence seizure Case 2

• Duration & frequency episode helpful  10 yr old boy
• Typical absence seizure:  Present with GTCS in am on awakening
-lasts 5-20secs -abrupt onset & offset
 Also associated with predominant upper limb
myoclonus
-usually many times /day (10 – 100x / day)
-may be with simple automatism (lip smacking, eyelid
blinking)
-hyperventilation provokes attack in majority

• Childhood preoccupation / ‘blank spells’:

-prolonged blank spell without any of above features
-dependent on situation
 Juvenile Myoclonic Epilepsy Genetic forms of Epilepsy
 5-10% of epilepsy
Childhood onset (focal seizures)
 Myoclonic jerks, GTCS on awakening
 Most common epilepsy syndrome in adolescence
 Important to diagnose as good response to • Benign Childhood Epilepsy with
valproate but need to have lifelong Tx (60-70%) sz Centrotemporal Spikes (BECTS)
recur
• Early onset benign occipital epilepsy
 Triggers:
 Fatigue, alcohol, menstruation (PANAYIOTOPOULOS TYPE)
 Typical EEG features: • Late onset benign occipital epilepsy
 Eye closure sensitivity (GASTAUT TYPE)
 Photosensitivity (40-70% cases) • Favourable prognosis for seizures
 Ictal: rapid (>3Hz), irregular, generalised spike &
polyspike discharge

Case 3
 12yr old boy
 Unilateral tonic-clonic seizure involving face & arms
in sleep or on awakening
 Occasionally with GTCS in sleep
 If occur awake consciousness preserved
 International system
Benign Epilepsy with Centro-Temporal
‘10-20’ Spike (rolandic)
 Most common focal epilepsy in childhood (10-15%)
Fp1 Fpz Fp2  Onset: 4-10yrs
 Seizure:
F7 F3 Fz F4 F8 - Focal sensorimotor (unilateral parasthesia)
- +/- by focal motor sz face, lips, pharynx
C3 Cz

A1 T3 C3 Cz C4 T4 A2
- GTCS in sleep
 70-75% sz occur during sleep or on awakening
 If awake consciousness preserved but if asleep
T5 P3 Pz P4 T6 secondary generalisation is common
 NB: GTCS may be only manifestation
O1 Oz O2

BECTS (rolandic) Importance of accurate diagnosis

 EEG:
 Interictal- unilateral or bilateral spike-wave in centro- BECTS JME
temporal (peri-rolandic) region  May not treat Treat after first sz
 Ictal- discharge remain localised +/- generalisation
 EEG discharge may be absent in 30% of awake  Spontaneous
remission Life-long AED
EEG
 If suspect clinically need to request sleep EEG  Relatively Precipitating factors
 Absence of discharges in sleep very rare benign (photic)
 AED of choice: prognosis Relapses on medication
 Sodium valproate +/- clobazam
withdrawal
 Carbamazepine
 Prognosis: excellent & sz usually cease Poor prognosis
spontaneously by puberty

Early-onset childhood Late-onset childhood

occipital epilepsy occipital epilepsy Visual hallucinations in occipital
(Panayiotopoulos) (Gastaut) seizures
Age onset 1-14yrs (peak 4-5yrs) 3 – 15 yrs
Prevalence 13% of children aged 3-6yrs 2-7% of benign childhood
6% age group 1-15yrs focal seizures
Sz semiology Emetic triad (nausea, retching, Purely occipital semiology with
vomiting): 74% sz elementary visual
Autonomic: pallor, mydriasis hallucinations lasting up to few
Ocular: Eyes / head deviation, minutes
eye gaze widely open for 10 – Eye devitation in 70% +/-
20 minutes eyelid blinking
Interictal EEG Occipital spikes Occipital spikes

Prognosis 30% 1sz, 50% 2-5sz, 5%>10sz 90% have frequent seizures

Sz lifespan: majority sz-free by Sz lifespan: rarely achieve sz-

2yrs of onset freedom in 2 yrs
 Structural/metabolic causes of
Epilepsy Classification
seizures
Structural
• Genetic
• Malformation of cortical development
(cortical dysplasia)
• Structural/Metabolic • Hippocampal sclerosis
• Stroke
• Other brain injury, meningitis
• Unknown Cause

Acquired structural causes of Malformations of cortical

Paediatric Epilepsy development

Cortical Dysplasia Hemimegalencephaly Tuberous Sclerosis

Perinatal Stroke Hippocampal Sclerosis

50 µV
Case 4 0.5 sec
F 4 -C 4
 6/12 old boy F 3 -C 3

 Term infant with grade 3 HIE C 4 -A 2

C 3 -A 1
 Sz on 1st wk of life which then resolved A 2 -T 6

 Now 2/52 Hx clusters of “moving forward” A 1 -T 5

T 6 -O z

 Commonly flexor-extensor with occasional „head T 5 -O z

nods‟ A 2 -T 4

T 4 -C 4

C 4 -C z

C z- C 3

C 3 -T 3

T 3 -A 1

T 4 -T 3

T 6 -T 5

E CG
 50 µV

0.5 sec
Infantile spasms
F 4 -C 4
• Infantile “epileptic encephalopathy”
C 4 -P 4

P 4 -O z
• Rare: incidence of 0.25-0.60 per 1000 live births
F 3 -C 3 • Peak age of onset 3-7 months, >95% have onset before age 2
C 3 -P 3
• West syndrome
P 3 -O z

F 4 -A 2
= triad of infantile spasms, hypsarrhythmia and arrest
A 2 -T 6 of psychomotor development
T 6 -O z
• Semiology: periodic spasms or brief tonic stiffening that cluster
F 3 -A 1
associated with behavioural change
A 1 -T 5

T 5 -O z
• Symptomatic:
T 4 -C 4
5 0 µ V – Seen in 61-93% of cohort in recent studies
C 4 -C z
1 sec
– Further divided into pre-, peri- and postnatal causes.
C z- C 3 – Usually associated with a structural CNS abnormality
C 3 -T 3 • Unknown: “lack of previous signs of brain damage and of
E CG unknown aetiology”
2 weeks on Vigabatrin

Lennox-Gastaut Syndrome (LGS) Objectives

• Triad of:
 Have a systematic approach in epilepsy
– multiple seizure types  Use DESSCRIBE approach
(tonic, atonic and atypical
absences + myoclonic)
– cognitive and behavioural  Have a basic knowledge of seizure semiology
abnormalities  Myoclonic, clonic, tonic, spasm, dyscognitive
– paroxysmal fast activity and
slow spike waves on EEG
• Evolution from West syndrome
common, varying aetiology
 Introduce classification of epilepsy
• Treatment  Understand importance of epilepsy syndromic
– VPA + LTG + TPM, classification
rufinamide
– Ketogenic diet
– Palliative surgery: VNS,  Have basic knowledge of common epilepsy
corpus callosotomy syndromes

Key to prognosis = Sz syndrome

 Genetic (idiopathic) generalised epilepsy
= mostly good prognosis (absence, myoclonus
except JME & photosensitive epilepsy)
 Genetic (idiopathic) focal epilepsy
= generally do well (BRE)
 Generalised structural / metabolic (symptomatic)
= poor prognosis
(eg: associated with brain malformations, n/metabolic)
 Focal structural / metabolic (symptomatic)
= requires surgical referral & depends on underlying
aetiology
Summary
• Good clinical history crucial to diagnose sz
- Never use EEG to solely diagnose epilepsy
• Classification is important – allows methodical
approach to testing, treatment and prognosis
• Wide range of causes for seizures in children,
may be acquired or genetic
• Some epilepsy syndromes are benign (usually
the genetic / idiopathic) and other (usually
symptomatic) need long-term AED treatment