Epilepsy and Autism
Stefanie Jean-Baptiste Berry, MD
Pediatric Epileptologist
Northeast Regional Epilepsy Group
What is Autism?
Impairment in social interaction
 Impairment in communication (verbal and
nonverbal)
 Restricted, repetitive and stereotyped
behavior, interests and activities
 Onset before 3 years of age

Prevalence 60 in 10,000 children (0.6%)
 Prevalence 2-4 in 10,000 in 1970
 Higher prevalence in males
 High genetic and metabolic contribution
 Possible environmental factors

Concordance between monozygotic twins
is about 70%
 4.5% increased risk for recurrence in
siblings
 Some genetic syndromes have a high
association with autism (Angelman and
Fragile X)


Conditions Associated with Autism:
Fragile X
Tuberous Sclerosis
Sotos Syndrome
Mucopolysaccharidoses
Toxic (Thalidomide, Alcohol, Cocaine)
Natural history and outcome of autism is
variable
 IQ less than 70 in most children with
autism
 1/3 with no communicative speech

Most favorable outcome in those with
normal/near normal intelligence and speak
before age 5
 Applied behavior analysis (ABA) improve
chances of functioning independently

Autism Spectrum Disorder
Subtypes
Autistic disorder
 Asperger’s syndrome
 Pervasive developmental disorder
 Childhood Disintegrative disorder
 Rett’s syndrome


Classical Autistic Disorder
1. Impaired Sociability
2. Impaired verbal and non-verbal
communication
3. Restricted activities and interests

Asperger’s syndrome
1. Normal or near normal intelligence.
2. Language skills develop normally
3. Speech formal, peculiar voice,
deviant prosody
4. Flat affect, insensitivity to social
cues, and obsessively indulged
interests
5. Male to female ratio 4:1

Childhood Disintegrative Disorder
1. Rare form of autism
2. Prevalence 1.7 per 100,000
2. Acquired between ages 2 and 6 after
entirely normal early development
3. Profound regression over weeks to
months in language, motor and
social/adaptive skills

Rett’s Syndrome
1. Incidence 1 in 10,000 to 15,000
2. X-linked, MeCP2 gene, majority of
mutations de novo
3. Almost exclusively female
4. Postnatal brain growth affected
(acquired microcephaly)

Rett’s Syndrome
5. Developmental regression (normal
development until 6-12 months)
6. Loss of purposeful hand movements
7. Severe mental retardation and motor
deficits

Pervasive Development Disorder
1. Milder communication, behavioral and
social impairment
2. Later age of onset
Epilepsy and Autism
Prevalence of epilepsy among all children
is 2-3%
 5-38% frequency of epilepsy in autistic
children
 35-65% with EEG abnormalities
 Epilepsy in autism increased mortality

Bimodal age distribution
 Peak infancy to age 5 years and
adolescence
 Highest risk for epilepsy in those with
severe mental retardation and cerebral
palsy
 Epilepsy persists in the majority of patients
into adult life (remission 16%)

Autistic Disorder - Clinical epilepsy by
adolescence in more than 1/3 of patients
 Asperger’s syndrome - Estimated 5-10%
likelihood of developing epilepsy in early
childhood
 Pervasive Developmental Disorder - Risk
for epilepsy linked to underlying brain
dysfunction

Disintegrative Disorder - Risk for
epilepsy as high as 70%
 Rett’s Syndrome – Risk for epilepsy is
more than 90%

Diagnosis complicated because seizures
may be mistaken for behaviors (not
responding to name)
 Unusual repetitive behaviors, common in
autism, hard to distinguish from seizures
 All seizure types may be seen

Prevalence of epilepsy and types of
seizures vary
 Swedish study complex partial, atypical
absence, myoclonic and tonic-clonic most
common
 American study tonic-clonic and atypical
absence most common

Other studies state complex partial with
centrotemporal spikes most common
 Some studies suggest that epileptiform
discharges on EEG without seizures can
cause behavioral and cognitive impairment

Usually treat based on clinical seizures not
just EEG findings.
 Should anti-epileptic medication be
prescribed to children with autism,
language regression and subclinical EEG
abnormalities?

Long-duration EEGs that include slow
wave sleep more likely to show
epileptiform abnormalities
 Long-duration EEG of children with autism
spectrum disorder and regression without
clinical seizures – 46% with epileptiform
activity
 Focal spikes - Centrotemporal spikes and
temporoparietal spikes


Landau-Kleffner Syndrome
Overlap with autistic regression
Loss of language is prominent
Language regression after age 3
Acquired aphasia associated with
clinical seizures or an epileptiform EEG
Clinical seizures not required for
diagnosis
No decline in sociability or repetitive
behaviors
EEG abnormalities (spikes, sharp
waves and spike wave discharges); mainly
over temporoparietal regions
25% do not have clinical seizures
Loss of language attributed to clinical
or subclinical epilepsy in cortical areas
responsible for language
Medical treatment of seizures in autism
similar to treating other children with
epilepsy
 Limited data on response of children with
epileptiform EEG without clinical seizures
 Same strategy as LKS – reduce
epileptiform activity
 Reports that language of LKS and those
with autism improved in response to
anticonvulsants

Improvements have also been reported in
patients treated with corticotropin,
steroids, or immunoglobulins
 Clinical reports of the use of Depakote in
children with autism with and without
clinical seizures
 Most showed improvement in core
symptoms of autism

Absence of clinical trials, therefore no
definite recommendations about treatment
 Surgical resection in children with autism
and intractable epilepsy – may improve
seizures +/- autistic symptoms
 1 study subpial transections – language
and behavior improved
