Epilepsy and autism
1 / 32

Epilepsy and Autism - PowerPoint PPT Presentation

  • Uploaded on

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

I am the owner, or an agent authorized to act on behalf of the owner, of the copyrighted work described.
Download Presentation

PowerPoint Slideshow about ' Epilepsy and Autism' - ginger-simmons

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

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

  • 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


    MeCP2 gene

    Postnatal brain growth affected

    Severe mental retardation and motor


  • 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

What is epilepsy
What is Epilepsy? before 5 years old

  • 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

  • Generalized Seizures: before 5 years old

    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: before 5 years old

    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 before 5 years old

  • 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 before 5 years old

  • 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% more than 1/3 of patients

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

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 to show epileptiform abnormalities

    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