Transcript
Page 1: Epilepsy in Autism: An Overview

Epilepsy in Autism: An Overview

Autism One Conference

Toronto, Canada

Oct. – Nov. 2009

[email protected]

781-740-8300Nov. 09 1HHA

Page 2: Epilepsy in Autism: An Overview

A Time for Optimism

32 year perspective

Back wards of a 1300 bed state school for the MR

Began to suspect complex partial szs

If not on EEG, do not rx.

Rigidity of thinking is changing.

Nov. 09 2HHA

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An Integrative Approach

Attention to diets and nutritionAttention to environmental factors

Vaccines Mercury

Attention to allergies, oxidative stress, inflammation, and detoxification

Nov. 09 3HHA

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Epidemiology is Different in AutismIncidence of epilepsy is higher in autism

M. Rutter in 1970 stated @ one third 20% to 40% is current estimate

Abnormal EEGs – up to 84%Higher incidence of vaccination-induced

seizures: Pertussis, etc.

Higher incidence of temporal lobe seizure (TLE or CPS)

Nov. 09 4HHA

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Morbidity is Increased

• Impaired or delayed language

• Impaired or delayed cognition

• Secondary emotional symptoms

Anxiety, fear, obsessionalism

• Social impairments

Helmets, unable to swim at times

• Anxiety in parents and staff of programs

Nov. 09 5HHA

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Look for ComorbidityCo-morbid diseases

Tuberous Sclerosis Fragile-X syndrome Mesial-temporal sclerosis Rubella Neruo-inflammatory conditions?

Mitochondrial disordersUnrecognized nutritional or metabolic

issues: functional folic acid deficiencyNeuro-toxins: heavy metals?, etc.

Nov. 09 6HHA

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Mortality: Increased

Few studies on this subject (? avoidance) SIDS Sudden Unexplained Death in Epilepsy

(SUDEP) Cardio-respiratory event Early morning nocturnal seizures Aspiration Trauma Drowning

Nov. 09 7HHA

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Diagnosis: More DifficultOften non-verbal or limited ability to

express symptom, especially emotional feelings

Often unable to cooperate for EEGs, BEAMs, QEEGs, MEGs

Seizure vs: inattention, tics, Sydenham’s chorea, ‘stereotypy of autism’, PANDAS

Subclinical discharges & occult szs

Nov. 09 8HHA

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Clinical History is Key!

Temporal and paroxysmal patternsHistory, history, historyLocation, location, location

Trauma: birth or other head traumas Mesial-temporal sclerosis

Constellation of symptoms and signsFamily history of variable importance

Myoclonic epilepsy Mitochondrial disorders

Nov. 09 9HHA

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Examination

Neurocutaneous disordersDysmorphic features suggestive

of chromosomal disorder or genetic disorder

Fetal alcohol syndromeValproate syndrome

Nov. 09 10HHA

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Laboratory TestingNeurophysiologic

Sensitivity and specificity

Imaging studiesGeneticMetabolicToxicologicalOxidative stress, sulfation, methylationThe Therapeutic Trial

Nov. 09 11HHA

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Basic Adage

“If you do not know the diagnosis after taking the history and doing the exam, go back and take the history over again.” Robert Joynt, MD, PhD.

Nov. 09 12HHA

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Epilepsy Classification

Generalized (both hemispheres involved) Tonic-clonic (Grand Mal, major motor) Petite Mal (Absence seizure)

Partial Simple: one modality of brain function Complex: two or more Temporal Lobe Epilepsy Secondary Generalization

Myoclonic Epilepsy.Nov. 09 13HHA

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Special Syndromes in ASD

TLE: + Panic Disorder +/- OCDLandau-Kleffner Syndrome (epileptic

aphasia): role of inflammation or oxidative stress?

Post Vaccination EpilepsyCerebral Folate Deficiency

Nov. 09 14HHA

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Nov. 09 15HHA

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Travolta CaseKawasaki’s Disease – mucocutaneous lymph node

syndrome “not associated with either autism or epilepsy”.

BUT note the signs and symptoms of KD: High fever lasting for five days or longer Pinkeye in both eyes Redness of lips, tongue, and lining of mouth Swollen cervical lymph node > 1.5 mm in diameter Red rash on the body, which may be flat or bumpy and that

may have variable pattern Swollen hands and feet with redness of palm and soles. In

second week there may be peeling of the skin starting around the fingernails and moving up the arms

Nov. 09 16HHA

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Kawasaki’s Disease, Acrodynia, and Mercury

Mercury may play a pathogenic roleHigh urine mercuryOverlap of symptoms in two syndromesGenetic depletion of glutathione S-transferaseOnset often within days of vaccination1985 – 1997 20x in incidence, paralleling use of

thimerosal Mutter J & Yeter D. Curr Med Chem. 2008;

15(28):3000-10.

Nov. 09 17HHA

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Pre-ictal

The build up of tension/agitationDeepening of mood or depressionIncrease of anxietyHeightening of mania or obsessions and

compulsionsExacerbation of psychosisTherapeutic effect of seizures

Nov. 09 18HHA

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Partial Ictal Phenomena

Motor Symptoms Focal motor activity

anywhere on body Speech arrest

Somato-sensory and Special Sensory Hallucinations Somato-sensory Unformed visual Olfactory Gustatory Vertiginous-vestibular

Nov. 09 19HHA

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Partial Ictal Phenomena,Continued

Psychic-Cognitive Symptoms Fear, Anxiety, Panic Depression Anger Irritability Pleasure Dysphasia Deja vu Jamais vu

Derealization Speeding thoughts Incoherence of thought Distortions of:

TimeBody ImageOdorSoundColorSize, shape, distance

Hallucinations Mystical experience

Nov. 09 20HHA

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Partial Ictal Phenomena,Continued

Autonomic Symptoms Abdominal: nausea Chest Unusual head Hyper-salivation Diaphoresis Temperature Pallor or flushing Piloerection Palpitations

Nov. 09 21HHA

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Post-ictal

AggressionSelf-injuryConfusion, DeliriumLethargy, Anergy, Somulence

Nov. 09 22HHA

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Interictal

AggressionPsychosis (Schizophreniform)Sexual DysfunctionReligiosity and Philosophic InterestsHypergraphiaCircumstantiality and Viscosity

(“stickiness”)

Nov. 09 23HHA

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Interictal Period “The Epileptic Personality”

ObsessivenessViscosityEmotionalityCircumstantialityParanoiaDepressionAltered Sexual

Interest

AngerAggressionDependenceReligiosityHypermoralityIncreased

philosophic Concerns

Nov. 09 24HHA

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TLE & Panic Attacks & SIB

Temporal LobeEpilepsy

Panic Disorder

Nov. 09 25HHA

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HHA

TLE & Panic and SIB

Nov. 09 26HHA

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Biomedical Interventions

NUTRICEUTICAL HORMONAL

Natural progesteronBe careful of synthetic progestins & Provera

PHARMACEUTICALNEUROFEEDBACKDETOXIFICATION: +/- CHELATIONVAGUS NERVE STIMULATION NEUROSURGERY

Nov. 09 27HHA

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Treatment Should Be Iterative

“Trial and Error”

“Willing to stick one’s neck out” - to be inventive

Nov. 09 28HHA

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Coups in Boston 7 y/o girl with spikes on EEG, absent AER,

probable regressive autism, side effects from Depakote (sedation) and Lamictal (rash), and fear of trying prednisone due to side effects: “I told her (mother) that I am more inclined to think that the treatments which Dr. Hardy may prescribe might actually do more for her and be safer in the long run. Thus, I thought it made a lot more sense to pursue that route first.”

David L. Coulter, M. D., Harvard Medical School, December 2008

Nov. 09 29HHA

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Nutritional/Natural Treatments IDiets

Ketogenic (since 1921) Atkins Diet? Casein-free and/or gluten-free

Hormonal Natural progesterone

Pills Lozenge Creams (ProGest)

Nov. 09 30HHA

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Nutritional/Natural Treatments II

L-Carnitine (to prevent valproate toxicity)Magnesium (pre-eclampsia)ZincOmega-3 EFAsVitamin B6 as P-5-PL-methylfolinic acid: Deplin &

CerefolinNAC

Nov. 09 31HHA

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Nutritional/Natural Treatments III

Mitochondrial cocktailsVitamins D, E, thiamine, biotin, B12Manganese DMG and/or TMGSulfur as ALA, glutathione, MSM, DMSA

Nov. 09 32HHA

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Antiepileptic Medication I

First Generation (1930 – 1980) – all associated with side effects (especially folate deficiency) and adverse drug-drug interactions Bromides Barbituates Phenytoin Carbamazepine Valproic acids ACTH & steroids

Nov. 09 33HHA

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Antiepileptic Medication IISecond generation (1990 – 2002) - fewer side effects

Neurontin Lamictal Topamax Gabatril Zonagran Keppra – “The B6 discovery!” Lyrica

Nov. 09 34HHA

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The B6 Discovery

• Vit B6 found to reduce behavioral side effects from Keppra

Nov. 09 35HHA

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Antiepileptic Medication III

Third generation in phase 3 Trials (2009 – ?) Carisbamate Retigabine Eslicarbazepine Lacosamide

Nov. 09 36HHA

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Vagal Nerve Stimulation

Nov. 09 37HHA

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Vagal Nerve Stimulation

Nov. 09 38HHA

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Questions

Nov. 09 39HHA


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