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