autism and epilepsy: a comprehensive medical approach eric bj segal, m.d

Autism and Epilepsy: Autism and Epilepsy: A Comprehensive A Comprehensive Medical ApproachMedical Approach

Eric BJ Segal, M.D.

Overview Overview Definition of AutismSubtypes of AutismEpidemiology of AutismDefinition of EpilepsyDefining SeizuresThe Co-existence of these 2 DisordersChildren with Autism who Develop

EpilepsyChildren with Epilepsy who Develop

Autism

What is Autism?What is Autism?

Impairments in 3 Domains:◦Reciprocal social interaction

◦Verbal and nonverbal communication

◦Restricted and repetitive interests

The 5 Subtypes of AutismThe 5 Subtypes of Autism

Childhood AutismAsperger SyndromePDD-NOSRett DisorderChildhood Disintegrative Disorder

The Subtypes: Childhood The Subtypes: Childhood AutismAutismDeficits involving:

◦Social skills◦Communicative language and imagination

◦Narrowness of focus Rigidity Preoccupations Repetitive Movements Speech

The Subtypes: Asperger The Subtypes: Asperger SyndromeSyndromeIQ >70Language developments is NOT delayed

Social impairments are less severe

The Subtypes: PDD-NOSThe Subtypes: PDD-NOS

Not otherwise specified (NOS) or atypical autism

Lacks of an operational definition makes it problematic to classify and study

The Subtypes: ?Childhood The Subtypes: ?Childhood Disintegrative DisorderDisintegrative Disorder

Symptomatic after age 3 years old

Cognitive regressionLanguage regressionMotor regressionLoss of bowel and bladder use

The Subtypes: ?Rett The Subtypes: ?Rett DisorderDisorderNormal development for the first 6-

18 months. GirlsPartial/complete loss of acquired

purposeful hand skillsPartial/complete loss of spoken

languageGait abnormalitiesStereotypic hand movementsHead growth deceleration

Regression in Other Regression in Other Subtypes of AutismSubtypes of Autism30% 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.”

Other Disorders Also have a Other Disorders Also have a High Association with Autistic High Association with Autistic behaviors…behaviors…

Fragile XAngelmanTuberous Sclerosis

How Common is Autism in How Common is Autism in America?America?

1 in 88 children.1 in 54 boys.1 in 252 girls.

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 1 in 150

2004 1996 8 8.0 1 in 125

2006 1998 11 9 1 in 110

2008 2000 14 11.3 1 in 88

*CDC Statistics

What is epilepsy?What is epilepsy?

Neurological condition that produces seizures affecting a variety of mental and physical functions.

Must have more than one unprovoked seizure.

What is a Seizure?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

Generalized SeizuresGeneralized 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

Focal (Partial) SeizuresFocal (Partial) SeizuresSimple (partial) – consciousness

is retained, motor, sensory, or visual system is affected.

Complex (partial) – impairment of consciousness, could present as staring or with motor symptoms.

How common is epilepsy in How common is epilepsy in patients with autism?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

Difficulty in Diagnosing Difficulty in Diagnosing Epilepsy in Children with Epilepsy in Children with AutismAutismDifficulty in distinguishing a behavioral

episodes (staring, repetitive movement) from an epileptic seizure.

EEG may be abnormal in patients who do not have epileptic seizures.

Treatment Goal for Epilepsy Treatment Goal for Epilepsy in Children with Autismin Children with Autism

Eliminate seizures without negatively impacting behavior or cognition.

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

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.

Children with Autism who Children with Autism who Develop EpilepsyDevelop EpilepsyWhat’s the right drug?

◦No randomized controlled trials to test the effects of anticonvulsants in well-defined populations of children with Autism and epilepsy.

Children with Autism who Children with Autism who Develop EpilepsyDevelop EpilepsySmall open label trials: Depakote, Lamictal, Keppra, Ketogenic Diet, Vagal Nerve Stimulator.

Anticonvulsants psychotropic effects in Autistic patients have so far been equivocal.

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.

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)

West Syndrome AKA Infantile West Syndrome AKA Infantile SpasmsSpasmsPrevalence 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

Laundau-Kleffner Laundau-Kleffner SyndromeSyndromeOnset: 3-6 years of ageSudden 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)

Landau-Kleffner SyndromeLandau-Kleffner SyndromeSteroids, 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.

So How Do We Differentiate So How Do We Differentiate Between Childhood Autism Between Childhood Autism and Landau Kleffner?and Landau Kleffner?Age of regressionDegree and type of regression

Frequency of EEG abnormalities

Autism is NOT an epileptic encephalopathy.

Should Any Autistic Child Should Any Autistic Child With An Abnormal EEG With An Abnormal EEG Receive Seizure Medicine?Receive Seizure Medicine?Abnormal EEG does not give the diagnosis of Epilepsy.

Treat the patient….◦Treating EEG abnormalities does not improve social communication.

SummarySummaryDefinition of AutismSubtypes of AutismEpidemiology of AutismDefinition of EpilepsyDefining SeizuresThe Co-existence of these Two DisordersChildren with Autism who Develop

EpilepsyChildren with Epilepsy who Develop

Autism

Final Thoughts….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…

Questions?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.