Epilepsy and Autism

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Epilepsy and Autism

• Stefanie Jean-Baptiste Berry, MD
• Pediatric Epileptologist
• Northeast Regional Epilepsy Group

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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

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• 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

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• 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)

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• Conditions Associated with Autism
• Fragile X
• Tuberous Sclerosis
• Sotos Syndrome
• Mucopolysaccharidoses
• Toxic (Thalidomide, Alcohol, Cocaine)

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• Natural history and outcome of autism is variable
• IQ less than 70 in most children with autism
• 1/3 with no communicative speech

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• Most favorable outcome in those with normal/near
  normal intelligence and speak before age 5
• Applied behavior analysis (ABA) improve chances
  of functioning independently

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Autism Spectrum Disorder Subtypes

• Autistic disorder
• Aspergers syndrome
• Pervasive developmental disorder
• Childhood Disintegrative disorder
• Retts syndrome

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• Classical Autistic Disorder
• 1. Impaired Sociability 2. Impaired verbal
  and non-verbal communication
• 3. Restricted activities and interests

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• Aspergers 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 41

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• 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

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• Retts 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)

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• Retts Syndrome
• 5. Developmental regression (normal
  development until 6-12 months)
• 6. Loss of purposeful hand movements
• 7. Severe mental retardation and motor
• deficits

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• Pervasive Development Disorder
• 1. Milder communication, behavioral and
  social impairment
• 2. Later age of onset

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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

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• 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)

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• Autistic Disorder - Clinical epilepsy by
  adolescence in more than 1/3 of patients
• Aspergers syndrome - Estimated 5-10 likelihood
  of developing epilepsy in early childhood
• Pervasive Developmental Disorder - Risk for
  epilepsy linked to underlying brain dysfunction

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• Disintegrative Disorder - Risk for epilepsy as
  high as 70
• Retts Syndrome Risk for epilepsy is more than
  90

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• 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

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• 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

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• 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

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• 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?

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• 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

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• 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

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• 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

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• 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

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• 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

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• 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