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Autism and Epilepsy: A Comprehensive Medical Approach

Autism and Epilepsy: A Comprehensive Medical Approach. Eric BJ Segal, M.D. Overview. Definition of Autism (DSM-4 VS. DSM-5) Subtypes of Autism (DSM-4 VS. DSM-5) Epidemiology of Autism Definition of Epilepsy Defining Seizures The Co-existence of these 2 Disorders

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Autism and Epilepsy: A Comprehensive Medical Approach

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  1. Autism and Epilepsy: A Comprehensive Medical Approach Eric BJ Segal, M.D.

  2. Overview • Definition of Autism (DSM-4 VS. DSM-5) • Subtypes of Autism (DSM-4 VS. DSM-5) • Epidemiology of Autism • Definition of Epilepsy • Defining Seizures • The Co-existence of these 2 Disorders • Children with Autism who Develop Epilepsy • Children with Epilepsy who Develop Autism

  3. What is Autism (DSM-4)? • Impairments in 3 Domains: • Reciprocal social interaction • Verbal and nonverbal communication • Restricted and repetitive interests

  4. What is Autism (DSM-5)? • 2 domains: • Social communication impairment. • Restricted interests/repetitive behaviors. • Why? • Verbal/non-verbal communication is encompassed by social interaction. • Verbal communication and social communication deficits were being counted twice.

  5. The 5 Subtypes of Autism (DSM-4) • Childhood Autism • Asperger Syndrome • PDD-NOS • Rett Disorder • Childhood Disintegrative Disorder

  6. The Subtypes: Childhood Autism • Deficits involving: • Social skills • Communicative language and imagination • Narrowness of focus • Rigidity • Preoccupations • Repetitive Movements • Speech

  7. The Subtypes: Asperger Syndrome • IQ >70 • Language developments is NOT delayed • Social impairments are less severe

  8. The Subtypes: PDD-NOS • Not otherwise specified (NOS) or atypical autism • Lacks of an operational definition makes it problematic to classify and study

  9. The Subtypes: ?Childhood Disintegrative Disorder • Symptomatic after age 3 years old • Cognitive regression • Language regression • Motor regression • Loss of bowel and bladder use

  10. The Subtypes: ?Rett Disorder • Normal development for the first 6-18 months. • Girls • Partial/complete loss of acquired purposeful hand skills • Partial/complete loss of spoken language • Gait abnormalities • Stereotypic hand movements • Head growth deceleration

  11. Handwringing in Rett Syndrome

  12. New Classification. • Autism Spectrum Disorder • Asperger syndrome • No research evidence demonstrating difference between Asperger Syndrome. • PDD-NOS (not really pervasive) • Childhood Disintegrative disorder (rare, other neurological disorder?) • Autistic disorder

  13. What’s not part of ASD? • Childhood Disintegrative Disorder • Rett Syndrome • Different symptoms • Known genetic cause

  14. What else is new? • Social Communication Disorder – disability in social communication without presence of repetitive behavior. • This is separate from Autism Spectrum Disorders.

  15. Regression in Autism • 30% of children with Autism have a language regression (few words to loss of non-verbal skills) before reaching 2 years old. • This type of regression is called “Autistic regression.”

  16. Other Disorders Also have a High Association with Autistic behaviors… • Fragile X • Angelman • Tuberous Sclerosis

  17. How Common is Autism in America? • 1 in 68 children. • 1 in 42 boys. • 1 in 189 girls. *CDC Statistics

  18. What is epilepsy? • Neurological condition that produces seizures affecting a variety of mental and physical functions. • Must have more than one unprovoked seizure.

  19. What is a Seizure? • “A sudden surge of electrical activity in the brain that usually affects how a person feels or acts for a short time.” – Epilepsy Foundation • Seizure Types: • Generalized • Focal • Focal with secondary generalization

  20. Generalized Seizures Generalized tonic-clonic (grand mal) -Unconscious, whole body shaking Absence (petit mal) – Staring, unawareness, brief (seconds) Myoclonic – Lightening-fast jerk of arm or leg Drop Seizures (atonic) – Loss of tone or excessive tone causing a person to fall

  21. Focal (Partial) Seizures • Simple (partial) – consciousness is retained, motor, sensory, or visual system is affected. • Complex (partial) – impairment of consciousness, could present as staring or with motor symptoms.

  22. How common is epilepsy in patients with autism? • 30% of patients with Autism have epilepsy. • 30% of patients with epilepsy have Autism. • Highest risk for Autism is seen in those whose seizures that start in the 1st year of life. • Risk for epilepsy in children with Autism is higher in those with greater intellectual disability, symptomatic vs. unknown cause, and history of regression • 35-65% of patients with Autism have EEG abnormalities • Epilepsy in autism confers increased mortality

  23. Difficulty in Diagnosing Epilepsy in Children with Autism • Difficulty in distinguishing a behavioral episodes (staring, repetitive movement) from an epileptic seizure. • EEG may be abnormal in patients who do not have epileptic seizures.

  24. Treatment Goal for Epilepsy in Children with Autism Eliminate seizures without negatively impacting behavior or cognition.

  25. Children with Autism Who Develop Epilepsy: • For the core deficits in Autism: psychosocial therapy is highly engaged, intensive, individualized treatment is most commonly prescribed.

  26. Non-pharmacological treatments are mainstay of therapy in ASD • Applied Behavior Analysis • More naturalistic developmental therapies • Hybrids • Classical articulation therapy • Visual communication (PECS) • Voice simulators (Dynavox) • Keyboarding (actual typing) Behavioral therapy Speech and Language Therapy Social skills training Occupational Therapy • Group based therapies to teach individuals how to respond to and initiate social interactions • Daily living skills, handwriting, play skills • Sensory Integration Therapy

  27. Children with Autism Who Develop Epilepsy Multiple philosophies... • Relationship-based approach: underlying developmental process. • Applied Behavior Analysis (ABA) approach: teaching behavior and skills through environmental manipulations.

  28. Children with Autism who Develop Epilepsy • What’s the right drug? • No randomized controlled trials to test the effects of anticonvulsants in well-defined populations of children with Autism and epilepsy.

  29. Children with Autism who Develop Epilepsy • Small open label trials: Depakote, Lamictal, Keppra, Ketogenic Diet, Vagal Nerve Stimulator. • Anticonvulsants psychotropic effects in Autistic patients have so far been equivocal.

  30. Children with epilepsy who develop Autism. • Epileptic encephalopathy – a condition in which EEG abnormalities themselves are believed to contribute to the progressive disturbances in cerebral function. • Regression/slowing of cognitive, language, or behavioral development due to interictal activity. • West Syndrome, Dravet Syndrome, Lennox-Gastaut, Landau-Kleffner Syndrome.

  31. Spasm: Sudden bending forward of head with extension of arms/legs. Onset: between 4-8 months of life. EEG: Hypsarrhythmia Symptomatic vs. Unknown (Idiopathic) West Syndrome AKA Infantile Spasms

  32. West Syndrome AKA Infantile Spasms • Prevalence of Autism as high as 35% (depends on IQ, symptomatic vs. unknown cause, if the EEG does NOT normalize after treatment). • Does early treatment improve developmental outcomes? • The cause of the spasms is the MOST important

  33. Laundau-Kleffner Syndrome • Onset: 3-6 years of age • Sudden or gradual development of aphasia (inability to understand or express language). • Starts with a child who loses language skills (does not recognize words that are familiar – verbal auditory agnosia). • EEG: near continuous epileptiform abnormalities – Electrographic Status Epilepticus of Sleep (ESES)

  34. Landau-Kleffner Syndrome • Steroids, high dose benzodiazepines, immunoglobulins, Onfi, Keppra, and ketogenic diet have been associated with improvements in behavior and language function. • Surgery – Multiple subpial transection may improve language function.

  35. So How Do We Differentiate Between Childhood Autism and Landau Kleffner? • Age of regression • Degree and type of regression • Frequency of EEG abnormalities • Autism is NOT an epileptic encephalopathy.

  36. Should Any Autistic Child With An Abnormal EEG Receive Seizure Medicine? • Abnormal EEG does not give the diagnosis of Epilepsy. • Treat the patient…. • Treating EEG abnormalities does not improve social communication.

  37. Summary • Definition of Autism • Subtypes of Autism • Epidemiology of Autism • Definition of Epilepsy • Defining Seizures • The Co-existence of these Two Disorders • Children with Autism who Develop Epilepsy • Children with Epilepsy who Develop Autism

  38. Final Thoughts…. • Autism and epilepsy can co-exist with other medical problems. • Your neurologist needs to play as part of the child’s TEAM… • No two patients are the same…

  39. Questions?

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