Epilepsy and autism
This presentation is the property of its rightful owner.
Sponsored Links
1 / 32

Epilepsy and Autism PowerPoint PPT Presentation

  • Uploaded on
  • Presentation posted in: General

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

Download Presentation

Epilepsy and Autism

An Image/Link below is provided (as is) to download presentation

Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.

- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -

Presentation Transcript

Epilepsy and autism

Epilepsy and Autism

Stefanie Jean-Baptiste Berry, MD

Pediatric Epileptologist

Northeast Regional Epilepsy Group

What is autism

What is Autism?

  • Onset before 3 years of age

  • Impairment in social interaction

  • Impairment in communication

  • Restricted, repetitive and stereotyped behavior, interests and activities

Epilepsy and autism

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

Autism Spectrum Disorder Subtypes

  • Autistic disorder

  • Asperger’s syndrome

  • Pervasive developmental disorder

  • Disintegrative disorder

  • Rett’s syndrome

Epilepsy and autism

  • Autistic Disorder (AD)

    Classic autism with incapacitating deficits in all 3 domains: 1. sociability 2. language and imagination 3. cognitive and behavior flexibility

Epilepsy and autism

  • Asperger’s syndrome

    Autism without mental retardation or delayed language development

  • Pervasive Development Disorder

    Milder autism

Epilepsy and autism

  • Disintegrative Disorder

    Severe autism

    Acquired between ages 2 and 10 after entirely normal early development

    Regression is more profound

Epilepsy and autism

  • Rett’s Syndrome


    MeCP2 gene

    Postnatal brain growth affected

    Severe mental retardation and motor


Epilepsy and autism

  • 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

Epilepsy and autism

  • 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

Epilepsy and autism

  • 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)

Epilepsy and autism

  • 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

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:


    Focal (Partial)

    Focal with secondary generalization

Epilepsy and autism

  • 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

Epilepsy and autism

  • 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 autism1

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

Epilepsy and autism

  • 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%)

Epilepsy and autism

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

Epilepsy and autism

Disintegrative Disorder - Risk for epilepsy as high as 70%

Rett’s Syndrome - Risk for epilepsy is more than 90%

Epilepsy and autism

  • 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

Epilepsy and autism

  • 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

Epilepsy and autism

  • 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.

Epilepsy and autism

  • 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?

Epilepsy and autism

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

Epilepsy and autism

  • 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

Epilepsy and autism

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.

Epilepsy and autism

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

Epilepsy and autism

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

Epilepsy and 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

  • Login