lecture on development disabilities and epilepsy for healthcare specialists neil schaul m.d....
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Lecture on Development Disabilities and Epilepsy for Healthcare Specialists
Neil Schaul M.D. Neurologist/Epileptologist
Associate Professor of Clinical NeurologyWeil Medical College of Cornell University
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What are Developmental Disabilities ?
A group of disorders that originate in the CNS (central nervous system)
Caused by: static processes (stroke, trauma, genetic) Onset in developmental period: prior to 3 years of age Most frequent conditions
– Cerebral palsy– Mental retardation– Autism
Multiple disabilities may coexist
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Topics
Cerebral Palsy Mental Retardation (intellectual deficiency) Autism Concomitant conditions
– Epilepsy ****– Psychiatric disorders
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Cerebral Cortex
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A Neuron (Brain Cell)
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Complexity of One Neuron cell body in blue, axons in red, dendrites in green, boutons in
white where axon communicates with other neurons
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Cerebral Palsy (CP)
Non progressive syndrome of posture and motor impairment
Due to insult of the developing Nervous System 2-4 per 1000 children Increase in the past 20 years
– Due to improved neonatal care– Improved reporting/documentation
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CP - features
Etiology – irreversible damage to either brain, brain stem or spinal cord– Multiple births, 2nd stage labor > 4hrs, intrauterine infection,
fetal infection, antepartum vaginal bleeding, fetal anoxia Types
– Quadriplegia – (40%) 4 limbs– Diplegia (30%) – 2 limbs, mainly legs– Hemiplegia (30%) – one side
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Child with left hemiparesis
Internal rotation left shoulder Elbow flexion Wrist flexion Thumb in palm Hip adduction Knee flexion Ankle, hind foot, big toe
change in posture
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CP – outcome
Survival – same as normal population aside from those with severe quadriparesis and profound MR
Clinical features– 50% walk unaided, 25% walk with aids, 25% do not walk– 30% have mental retardation– 35% have seizures– 20-40% with visual perception problems– 23% with urinary incontinence
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Terminology regarding cognition
Mental Retardation: some find “retardation” derogative but in the U.S. agencies are named MRDD (mental retardation developmental disability)
Mental or intellectual deficiency – more neutral IDD – intellectual and mental deficiency (I will use
the above terms interchangeably) Global developmental delay – actually a misnomer
because it implies there will be a “catch up”
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Definition
Limitations in intellectual functioning and adaptive behavior (onset before age 18)
Conceptual, social, practical adaptive skills Older definitions include IQ (70 to 50, less
than 50), but this is less useful in individuals with a handicap
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What is intellectual deficiency? What is intelligence ?
Capacity to process information To be able to program and adapt information Involves ability to solve problems Memorize information Focus attention
CAPACITY TO TRANSCEND ONES IMMEDIATE CIRCUMSTANCES AND ADAPT FUTURE ACTION
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Levels of Mental Deficiency
Mental Language Education Work DailyLiving
Borderline Normal Remedial Employable IndependentSome living help
Mild deficiency
normal or impaired
Limited ability
Employable selected tasks
Variable living help
Moderate deficiency
Normal or impaired
Very limited
Simple tasks
Dependent for living help
Severe to Profound
Limited or absent
Minimal functional
none ADL helpTotally dependent
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Levels of MR in DD population (Wyoming)
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What is autism ?
3 Core issues– Sociability– Communicative incompetence– Limited range of interest
Autism Spectrum Disorders – Asperger (lack of delay in language)– Pervasive developmental delay – not otherwise
specified (milder symptom in one domain of the core issues)
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Core Issues
Sociability– Inability to engage others, gaze aversion, inappropriate
intrusiveness, lack of empathy, inability to read facial expressions and language
Communication– Failure to speak or comprehend, defect in the melody of
language, sing song speech Interests
– Narrow range, resistant to change, tolerance of monotony
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Motor Behaviors
Flapping hands when excited Twisting fingers Withdraws from tactile contact Excessive sniffing and licking
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Autism and Epilepsy
Estimated that 1/3 of individuals with autism have seizures.
Seizures most common in those with significant intellectual deficiency
Remember an abnormal EEG does not mean epilepsy. Overestimates may be due incorrect interpretation of
behaviors or of EEG data.
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Psychiatric Issue in the IDD population
Issue of inability of the individual being able to provide description of there internal mental life and experiences
Detection of mental illness is extremely problematic and at times impossible in this group
Directly observed behavior more relevant than subjective description
Examples – Appetite, energy level, sleep habits, mobility, stereotyped behavior
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What is Epilepsy ?
Recurring unprovoked seizures (2 or more) A single seizure combined with a brain alteration that
increases the likelihood of future seizures
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Definitions - Seizure
From the Greek – “to take hold” Implies a sudden and severe event Clinical and Electrical Manifestations TRANSIENT OCCURRENCE OF SIGNS AND
SYMPTOMS DUE TO ABNORMAL NEURONAL ACTIVITY
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Prevalence of Epilepsy
1% of the general population Intellectual deficiency - 15% with seizures MR with IQ <50 - 30% MR and Cerebral Palsy - 38% MR due to post natal injury - 66% CP without MR - 3%
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Epilepsy Incidence: Rochester, MinnesotaEpilepsy Incidence: Rochester, Minnesota1935 to 19841935 to 1984
Hauser WA, et al. Epilepsia. 1993;34:453-468. Adapted with permission of the journal Epilepsia.
0
50
100
150
200
806040200
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Diagnosis of Epilepsy
Historical information from individual and observer Prolonged EEG Video EEG on or off medications Imaging – MRI
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To make an accurate diagnosis
Age of onset Seizure manifestations (most difficult to know) Manifestations from direct observation or from
description of an observer EEG findings during an attack (ictal EEG) usually
requires a prolonged EEG or EEG during hospitalization.
EEG in between attacks (inter ictal recording): abnormal EEG finding does not prove events are epileptic seizures.
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Ambulatory EEG
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Ambulatory EEG
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MRI
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MRI – horizontal cut
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Challenges to making the diagnosis of epilepsy in the DD Population
Cornerstone of diagnosis– History, observation, examination, imaging,
electrophysiology
Inability of individuals to provide accurate description of their internal mental life
Variably trained and often overtaxed staff Difficulty for the patient tolerating
neurodiagnostic testing (e.g. keeping the electrodes in place)
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Behaviors in the IDD patient that may look like epilepsy
Aggressive behavior Repetitive movements Rolling head back and forth Screaming and yelling Repetitive speech Talking to self loudly Autistic motor behaviors
– Flapping, twisting
Psychogenic seizures
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Common events diagnosed as epilepsy that are proven nonepileptic
Abnormal movements Staring Behavioral episodes Sleep disorders
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Epilepsy in the IDD population
Higher incidence of multiple seizures types Higher rate of intractability Lower rates of remission
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Current Treatment of Epilepsy
Medications - 10-80% (50%) seizure free Surgery - 50-80% seizure free Vagal Nerve Stimulator - <10% seizure free Ketogenic diet - 30% seizure free
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Some features of genuine epileptic seizure as opposed to nonepileptic events
Epileptic seizures generally have a sharp onset and a gradual offset (patient maybe asleep when seizure ends)
Most seizures last less than 3 minutes Specific triggers are unusual in epilepsy (i.e.
emotional, pain, becoming upset) Ultimate differential in an EEG (video if available)
during a clinical seizure. This may be difficult or impossible to obtain (patient cooperation, equipment availability, etc).
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Epilepsy treatment principles in the IDD individual
Efficacy– Monotherapy if possible– Appropriate AED (antiepileptic drug) for seizure/epilepsy type
Safety– Consider drug-drug interactions– Be aware of adverse events– Select drug that will not exacerbate other conditions (motor, mood,
behavior)
Simplification– Minimize number of agents used– Minimize number of daily doses
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BIGGEST PROBLEM TOO MANY PILLS
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Reasons for use of multiple agents (AED’s) in the IDD population
– High incidence of refractory seizures– Reluctance of physicians to withdraw medications
(fear of seizures or change in behavior)– Multiple different physicians following the same
patient (and generally not communicating)– Cross over trap - after starting a new drug
hesitancy in decreasing or stopping the prior AED
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Issues with using multiple agents
Increased toxic effects Increased interactions Concept of total drug load
– 2 drugs with similar side effects additive even though level of each is therapeutic
– Adverse effect more severe in individuals with preexisting CNS pathology
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Advantages of Monotherapy
Better seizure control Lesser drug toxicity Higher level of patient compliance Reduced cost
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What patients to consider for simplification
Seizure free patients Patients with good seizure control but on multiple
AED’s Patients on sedating type agents
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Reinvestigation may offer the following
Educating staff regarding epilepsy Education regarding side effects Observing for change in behavior in face of new or
changed AED Video EEG monitoring in the home or residential
facility
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Adverse Effects – AED’s for life
Bone disease (many AED’s)– P 450 enzyme induction decreases vitamin D– Osteoporosis and osteomalacia– Risk of pathological fractures– Calcium and Vitamin D supplementation
Cosmetic Effects (dilantin) Weight gain (valproate) Connective tissue disease (phenobarb)
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Changing Concept of disability
Disability seen as an interaction of person and community – outcome as any intervention (social, medical, functional)
seen in context of individual’s active participation in life No longer simply a seizure count Goals Include
– eliminating or minimizing seizures– eliminating or minimizing side effects– maximizing psychosocial functioning
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Beyond the seizure count
Seizure description – timing, duration, time of day Impact on safety, activity, participation Tendency to cluster Injury possibility – to use or not to use protective
device
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What we do – when and why to hospitalize
Out of control (too many seizures) Diagnosis – seizure vs. non seizure Differentiate – partial vs. generalized Considerations for other treatments – would epilepsy
surgery help– Palliative or Curative
Medication – can we simplify medication regime– Change timing– Changes in poly therapy
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Problems I see
Not everything that shakes is a seizure Inappropriate labeling – correct diagnosis crucial Dealing with a seizure
– Often no need to miss activity or work– Dangers of the local ER– Inappropriate use of drug levels– Rescue therapy
Multidisciplinary treatment can be a misnomer– Doctors do not always talk to each other
Communication – electronic medical records may help Use of in home video
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Summary
Seizures are a common co morbidity in the MRDD (IDD) population.
Range from 20-50%. Diagnosis and Treatment difficult. Recommend individuals with experience with
epilepsy in this population. Goal is finding an intervention most consistent with
individual’s full participation in life. Diagnosis – Diagnosis – Diagnosis.
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Sources
Epilepsy and Mental Retardation – edit Sillanpaa and Gram and others 1999 (book)
Disorders of Motor and Mental Development, Autistic Spectrum Disorder in Merritt Textbook of Neurology – 12th edition 2009 – Chapters 84 and 85 by Isabelle Rapin and Suzanne Goh,
Maximizing Outcomes for Persons with DD and Epilepsy – 2004 educational material sponsored by Abbott Laboratories – Sections by Sunder (Philosophy and Approach to Epilepsy In persons with MR) and Smith (Long term care of MR and DD individual with epilepsy)
Epilepsy Research – 1996 – Pellock – A decade of modern epilepsy therapy in institutionalized MR patients
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More Recent Sources
Epilepsy Issue in Continuum: June 2013; vol 19, # 3, chapters on classification, antiepileptic drug treatment, management of childhood epilepsy, genetic testing
Epilepsy in children with cerebral palsy: Singhi, et al J. Child Neurol 2003
Epilepsy, cognition, and behavior: Berg, Epilepsia 52 (suppl) 1; 7-12, 2011
Medically refractory epilepsy in autism: Gemma Sansa, et al. Epilepsia 52 (6) 1071-75, 20011