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

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

Topics

Cerebral Palsy Mental Retardation (intellectual deficiency) Autism Concomitant conditions

– Epilepsy ****– Psychiatric disorders

Cerebral Cortex

A Neuron (Brain Cell)

Complexity of One Neuron cell body in blue, axons in red, dendrites in green, boutons in

white where axon communicates with other neurons

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

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

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

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

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”

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

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

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

Levels of MR in DD population (Wyoming)

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)

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

Motor Behaviors

Flapping hands when excited Twisting fingers Withdraws from tactile contact Excessive sniffing and licking

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.

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

What is Epilepsy ?

Recurring unprovoked seizures (2 or more) A single seizure combined with a brain alteration that

increases the likelihood of future seizures

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

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%

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.

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Diagnosis of Epilepsy

Historical information from individual and observer Prolonged EEG Video EEG on or off medications Imaging – MRI

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.

Ambulatory EEG

Ambulatory EEG

MRI

MRI – horizontal cut

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)

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

Common events diagnosed as epilepsy that are proven nonepileptic

Abnormal movements Staring Behavioral episodes Sleep disorders

Epilepsy in the IDD population

Higher incidence of multiple seizures types Higher rate of intractability Lower rates of remission

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

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).

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

BIGGEST PROBLEM TOO MANY PILLS

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

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

Advantages of Monotherapy

Better seizure control Lesser drug toxicity Higher level of patient compliance Reduced cost

What patients to consider for simplification

Seizure free patients Patients with good seizure control but on multiple

AED’s Patients on sedating type agents

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

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)

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

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

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

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

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.

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

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