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Autism and Epilepsy: A Comprehensive Medical Approach

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Presentation on theme: "Autism and Epilepsy: A Comprehensive Medical Approach"— Presentation transcript:

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

2 Overview Definition of Autism Subtypes of Autism
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 Impairments in 3 Domains: Reciprocal social interaction
What is Autism? Impairments in 3 Domains: Reciprocal social interaction Verbal and nonverbal communication Restricted and repetitive interests

4 Childhood Disintegrative Disorder
The 5 Subtypes of Autism Childhood Autism Asperger Syndrome PDD-NOS Rett Disorder Childhood Disintegrative Disorder

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

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

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

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

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

10 Regression in Other Subtypes of 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.”

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

12 How Common is Autism in America?
Surveillance Year Birth Year # of Reporting Sites Prevalence per 1000 Children This is about 1 in X Children… 2000 1992 6 6.7 1 in 150 2002 1994 14 6.6 2004 1996 8 8.0 1 in 125 2006 1998 11 9 1 in 110 2008 11.3 1 in 88 *CDC Statistics 1 in 88 children. 1 in 54 boys. 1 in 252 girls.

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

14 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

15 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

16 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.

17 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

18 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.

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

20 Intellectual Disability
38% of children with Autism have intellectual disability.– 2008 CDC 20-25% of children with Epilepsy have intellectual disability. – Berg A 2012 Rates of intellectual disability in children with Autism and Epilepsy:

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

22 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.

23 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.

24 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.

25 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.

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

27 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

28 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)

29 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.

30 Degree and type of regression Frequency of EEG abnormalities
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.

31 Abnormal EEG does not give the diagnosis of Epilepsy.
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.

32 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

33 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…

34 Questions? This presentation’s structure is inspired by Tuchman, et. Al. Autism spectrum disorders and epilepsy: moving towards a comprehensive approach to treatment. Brain and Development 2010.


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