Autism and Epilepsy:
A Comprehensive Medical
Approach
Eric BJ Segal, M.D.
Overview
Definition of Autism
 Subtypes of Autism
 Epidemiology of Autism
 Definition of Epilepsy
 Defining Seizures
 The Co-existence of these 2 Disorders
 Children with Autism who Develop
Epilepsy
 Children with Epilepsy who Develop
Autism

What is Autism?
 Impairments
in 3 Domains:
◦Reciprocal social interaction
◦Verbal and nonverbal
communication
◦Restricted and repetitive
interests
The 5 Subtypes of Autism
Childhood Autism
Asperger
Syndrome
PDD-NOS
Rett Disorder
Childhood Disintegrative
Disorder
The Subtypes: Childhood Autism
 Deficits
involving:
◦ Social skills
◦ Communicative language and
imagination
◦ Narrowness of focus
 Rigidity
 Preoccupations
 Repetitive Movements
 Speech
The Subtypes: Asperger Syndrome
 IQ
>70
 Language developments is
NOT delayed
 Social impairments are less
severe
The Subtypes: PDD-NOS
 Not
otherwise specified
(NOS) or atypical autism
 Lacks of an operational
definition makes it
problematic to classify and
study
The Subtypes: ?Childhood
Disintegrative Disorder
 Symptomatic
after age 3 years old
 Cognitive regression
 Language regression
 Motor regression
 Loss of bowel and bladder use
The Subtypes: ?Rett Disorder
Normal development for the first 6-18
months.
 Girls
 Partial/complete loss of acquired
purposeful hand skills
 Partial/complete loss of spoken language
 Gait abnormalities
 Stereotypic hand movements
 Head growth deceleration

Regression in Other Subtypes of
Autism
 30%
of children with Autism
have a language regression
(few words to loss of nonverbal skills) before reaching 2
years old.
 This type of regression is
called “Autistic regression.”
Other Disorders Also have a High
Association with Autistic behaviors…
 Fragile
X
 Angelman
 Tuberous Sclerosis
How Common is Autism in America?
Surveillance Birth Year
Year
# of
Reporting
Sites
Prevalence
per 1000
Children
This is
about 1 in
X
Children…
2000
1992
6
6.7
1 in 150
2002
1994
14
6.6
1 in 150
2004
1996
8
8.0
1 in 125
2006
1998
11
9
1 in 110
2008
2000
14
11.3
1 in 88
1
in 88 children.
 1 in 54 boys.
 1 in 252 girls.
*CDC Statistics
What is epilepsy?
 Neurological
condition that
produces seizures affecting a
variety of mental and physical
functions.
 Must have more than one
unprovoked seizure.
What is a Seizure?
 “A
sudden surge of electrical activity
in the brain that usually affects how a
person feels or acts for a short
time.” – Epilepsy Foundation
 Seizure Types:
◦ Generalized
◦ Focal
◦ Focal with secondary generalization
Generalized Seizures
Generalized tonic-clonic (grand mal) Unconscious, whole body shaking
Absence (petit mal) – Staring, unawareness,
brief (seconds)
Myoclonic – Lightening-fast jerk of arm or leg
Drop Seizures (atonic) – Loss of tone or
excessive tone causing a person to fall
Focal (Partial) Seizures
Simple (partial) – consciousness is
retained, motor, sensory, or visual system
is affected.
 Complex (partial) – impairment of
consciousness, could present as staring or
with motor symptoms.

How common is epilepsy in patients
with autism?






30% of patients with Autism have epilepsy.
30% of patients with epilepsy have Autism.
Highest risk for Autism is seen in those whose
seizures that start in the 1st year of life.
Risk for epilepsy in children with Autism is
higher in those with greater intellectual
disability, symptomatic vs. unknown cause, and
history of regression
35-65% of patients with Autism have EEG
abnormalities
Epilepsy in autism confers increased mortality
Difficulty in Diagnosing Epilepsy in
Children with Autism
Difficulty in distinguishing a behavioral
episodes (staring, repetitive movement)
from an epileptic seizure.
 EEG may be abnormal in patients who do
not have epileptic seizures.

Treatment Goal for Epilepsy in
Children with Autism
Eliminate seizures
without negatively
impacting behavior or
cognition.
Children with Autism Who
Develop Epilepsy:
For
the core deficits in
Autism: psychosocial
therapy is highly engaged,
intensive, individualized
treatment is most
commonly prescribed.
Children with Autism Who Develop
Epilepsy
Multiple philosophies...
 Relationship-based approach:
underlying developmental process.
 Applied Behavior Analysis (ABA)
approach: teaching behavior and skills
through environmental
manipulations.
Children with Autism who Develop
Epilepsy
 What’s the right drug?
◦ No randomized controlled trials to
test the effects of anticonvulsants in
well-defined populations of children
with Autism and epilepsy.
Children with Autism who Develop
Epilepsy
 Small open label trials: Depakote,
Lamictal, Keppra, Ketogenic Diet,
Vagal Nerve Stimulator.
 Anticonvulsants psychotropic
effects in Autistic patients have so
far been equivocal.
Children with epilepsy who develop
Autism.
Epileptic encephalopathy – a condition in
which EEG abnormalities themselves are
believed to contribute to the progressive
disturbances in cerebral function.
 Regression/slowing of cognitive, language,
or behavioral development due to
interictal activity.
 West Syndrome, Dravet Syndrome,
Lennox-Gastaut, Landau-Kleffner
Syndrome.

West Syndrome AKA Infantile
Spasms
Spasm: Sudden
bending forward of
head with extension
of arms/legs.
 Onset: between 4-8
months of life.
 EEG: Hypsarrhythmia
 Symptomatic vs.
Unknown
(Idiopathic)

West Syndrome AKA Infantile
Spasms
Prevalence of Autism as high as 35%
(depends on IQ, symptomatic vs.
unknown cause, if the EEG does NOT
normalize after treatment).
 Does early treatment improve
developmental outcomes?
 The cause of the spasms is the MOST
important

Laundau-Kleffner Syndrome
Onset: 3-6 years of age
 Sudden or gradual development of aphasia
(inability to understand or express
language).
 Starts with a child who loses language
skills (does not recognize words that are
familiar – verbal auditory agnosia).
 EEG: near continuous epileptiform
abnormalities – Electrographic Status
Epilepticus of Sleep (ESES)

Landau-Kleffner Syndrome
 Steroids, high
dose benzodiazepines,
immunoglobulins, Onfi, Keppra, and
ketogenic diet have been associated
with improvements in behavior and
language function.
 Surgery – Multiple subpial
transection may improve language
function.
So How Do We Differentiate
Between Childhood Autism and
Landau Kleffner?
 Age of regression
 Degree and type of regression
 Frequency of EEG abnormalities
 Autism
is NOT an epileptic
encephalopathy.
Should Any Autistic Child With An
Abnormal EEG Receive Seizure
Medicine?
 Abnormal
EEG does not give
the diagnosis of Epilepsy.
 Treat the patient….
◦ Treating EEG abnormalities does
not improve social communication.
Summary
Definition of Autism
 Subtypes of Autism
 Epidemiology of Autism
 Definition of Epilepsy
 Defining Seizures
 The Co-existence of these Two Disorders
 Children with Autism who Develop
Epilepsy
 Children with Epilepsy who Develop
Autism

Final Thoughts….
 Autism
and epilepsy can co-exist
with other medical problems.
 Your neurologist needs to play as
part of the child’s TEAM…
 No two patients are the same…
Questions?
This presentation’s structure is inspired by Tuchman, et. Al. Autism
spectrum disorders and epilepsy: moving towards a comprehensive
approach to treatment. Brain and Development 2010.