Transcript Epilepsy and Autism: Dr. Stefanie Berry

Epilepsy and Autism
Stefanie Jean-Baptiste Berry, MD
Pediatric Epileptologist
Northeast Regional Epilepsy Group
What is Autism?
Onset before 3 years of age
 Impairment in social interaction
 Impairment in communication
 Restricted, repetitive and stereotyped
behavior, interests and activities

Prevalence 60 in 10,000 children (0.6%)
 Higher prevalence in males
 High genetic and metabolic contribution
 Some genetic syndromes have a high
association with autism (Angelman and
Fragile X)

Autism Spectrum Disorder
Subtypes
Autistic disorder
 Asperger’s syndrome
 Pervasive developmental disorder
 Disintegrative disorder
 Rett’s syndrome


Autistic Disorder (AD)
Classic autism with incapacitating
deficits in all 3 domains: 1. sociability 2.
language and imagination 3. cognitive and
behavior flexibility
Asperger’s syndrome
Autism without mental retardation or
delayed language development
 Pervasive Development Disorder
Milder autism


Disintegrative Disorder
Severe autism
Acquired between ages 2 and 10 after
entirely normal early development
Regression is more profound

Rett’s Syndrome
X-linked
MeCP2 gene
Postnatal brain growth affected
Severe mental retardation and motor
deficits
Clinical diagnosis
 Variable causes of autism
 Genetics plays a big role (high
concordance in monozygotic twins, 4.5%
increased risk in siblings)
 Epilepsy and autism may share common
neurobiological basis
 ? Environmental factor

Natural history and outcome of autism is
variable
 IQ less than 70% in most children with
autism
 1/3 with no communicative speech
 75% who fail to show language skills by
age 5 years fail to adjust personally or
socially

Others make fairly adequate social adjust
but retain peculiarities of personality, lack
of humor and unawareness of social
nuances
 Even with treatment programs, only some
improve significantly (2nd half of 1st
decade)

Best outcome in patients with normal
intelligence and speak before 5 years old
 Applied behavior analyses (ABA) improve
chances of functioning independently

What is Epilepsy?
2 or more unprovoked seizures
 Incidence <10 years old 5.2 to 8.1 per
1,000 (highest <1 year)
 Seizure types:
Generalized
Focal (Partial)
Focal with secondary generalization


Generalized Seizures:
1.) Generalized tonic-clonic (grand mal)Unconscious, whole body shaking;
variable duration
2.) Absence (petit mal) – Staring,
unawareness, brief (seconds)
3.) Myoclonic – Brief jerk of arm or leg
4.) Atonic – Sudden drop
Focal (Partial) Seizures:
1.) Simple – Consciousness preserved;
twitching of one side of face or body,
numbness, visual
2.) Complex – Impaired consciousness;
twitching, head/eye deviation etc.

Epilepsy and Autism
Prevalence of epilepsy among all children
is 2-3%
 5-38% autism with epilepsy
 Risk for epilepsy increased with greater
intellectual disability, symptomatic vs.
idiopathic, age and history of regression
 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
 Epilepsy more common in children who
regressed in language after age 3.

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
 Children with severe and persistent
language disorders at increased risk for
seizures and epilepsy.
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 epilepsy

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
