Issues in Developmental DisabilitiesEpilepsy in the Intellectually and

Developmentally Disabled

Lecture Presenter:

Christopher M. Inglese, M.D.Regional Epilepsy CenterSt. Luke's Medical Center

Milwaukee,Wisconsin

Video of Inglese

Epilepsy In The Multiply-Handicapped

Worldwide movement to de-institutionalize patients with MR

Improved seizure control, fewer side effects and less complicated regimens allow more successful placement in community

Intellectual and Developmental Disabilities Associated with Epilepsy

Cognitive Motoric Sensory Attentional Behavioral Affective

Cognitive Mental Retardation

SMR MMR Learning Disabilities Apraxias/Dyspraxias

Motoric Cerebral Palsy

Spastic Extrapyramidal Developmental Dyspraxias Hypotonia Weakness

Sensory

Hearing Loss Visual Impairment Sensory Integration Dysfunction

Attentional

ADHD -Combined Type, Inattentive Subtype

Primary Disorders of Vigilance Secondary Disorders of Vigilance

Behavioral

Impulsivity Hyperkinesis Affective Storms Episodic Dyscontrol Self Injurious Behavior Aggression

AffectiveMood Disorders

Anxiety Depression Bipolar, Cyclic mood disturbances Thought Disorders

Autistic Spectrum Disorders

Aspergers Hellers Retts Kanners (classical autism) PDD NOS

Common Medical Comorbidities

Congenital malformations Chromosomal Abnormalities Genetic Disorders Metabolic Disorders Static Enephalopathis

Terminology & DefinitionsDiagnostic Criteria for Mental Retardation

IQ < 70 Impairment in interpersonal relations,

self-care, maturation Onset before age 18 DSM IV 37.90

Seizures

The outward manifestations of the epilepsies can be purely subjective, experiential, imposed emotions.

Epilepsy

A predisposition for unprovoked, recurrent seizures by a proximate identifiable cause.

Epileptic Syndromes

Collections of signs, symptoms from a common cause which define recognizable patterns of disease.

The Classification of the Epilepsies

There are many ways to classify the epilepsies or seizures

Classifications cont.

By Cause or Etiology Idiopathic Cryptogenic Symptomatic

By Clinical Appearance

Convulsive Non Convulsive

Grand Mal Petit Mal

Major Motor Minor Motor

By Electro-Clinical Characteristics*

Partial Onset Generalized Onset

*Determined by the Anatomic Substrate of the Seizure Generator

Diagnostic Evaluation Complete History Detailed

physical/neuro exam

Family History Routine blood

work, toxic and metabolic screening, serum levels

EEG (often requires sedation)

Neuro-imaging (MRI preferred)

Video-EEG monitoring

Video-recording of events

Why is Classification Important? Basic Science and Clinical Scientists

must have uniformity of definitions in heterogeneous conditions

“Apples to apples, oranges to oranges”

Classification Facilitates Research

Causal Mechanisms Treatments Outcomes Predispositions

International Classification of Epileptic Seizures Partial Seizures Simple Partial Complex Partial Simple or Complex Partial which

generalize Sensory Motor Autonomic

International Classification of Epileptic Seizures-Generalized

Absence (typical and atypical) Myoclonic Tonic Clonic Atonic-astatic

International Classification of Epileptic Seizures-Unclassified

Febrile Seizures Reflex Epilepsies Status Epilepticus

Classification of Epilepsy Syndromes

Idiopathic focal epilepsies Familial focal epilepsies Symptomatic and Cryptogenic focal

epilepsies

Idiopathic Generalized Epilepsies

Reflex Epilepsies Epileptic Encephalopathies Progressive myoclonus epilepsies

Epidemiology and Statistics-Prevalence

Numerator-old and new cases Denominator-population at risk

Epidedemiology (continued)

Prevalence of MMR IQ < 70 3.7-7.6 per 1000

Prevalence of SMR IQ < 50 2.8-4.6 per 1000

Prevalence of epilepsy 4.0-8.8 per 1000

Prevalence of MR in childhood epilepsy 31-41%

Epidedemiology (continued)

MMR and epilepsy 8-18% SMR and Epilepsy 30-36% Prevalence of Epilepsy in Swedish

study of 6-13 year olds – 2 per 1000 (98 of 48,873)

The risk of Epilepsy increases 30 fold when associated with:

TBI CP MR The risk is 5-15% higher with previous

meningitis or encephalitis Hauser and Nelson CP or MR 11% w/

epilepsy-Both CP/MR 48% with Epilepsy

Epilepsy can be a disabling condition in and of itself Disease stigma Autonomy Driving restrictions Impact of seizures

on memory Impact of

treatment on mood, memory motivation to learn

Occupational restrictions

Discrimination Impact on learning

of ictus, interictal state, postical state

Epilepsy

Cognitive Neuromotor Sensory

Attentional Behavioral self

regulatory Affect and mood

Can tremendously potentiate the impact of a disability when added to co-existing challenges, comorbidities

General Principles of Management-Diagnostic Is it Epilepsy? Both epileptic and

non-epileptic seizures?

Are seizures caused exclusively by controllable medical conditions?

Cardiac?

Hemodynamic-vascular?

Iatrogenic? Endocrenologic? Metabolic?

General Principles of Treatment:Is Treatment Necessary?

Febrile Fits BRE Select appropriate drug for seizure

type or syndrome Avoid seizure exacerbating drugs Select drug that may target other

issues of importance to patient Migraine, mood, sleep, weight, sex

Generalized Principals of Treatment (continued)

Discontinue meds whenever possible Consensus with client regarding

treatment or discontinuation

Salient Nonepileptic Disorders at Different Ages: Age 0-2 months

Tremor Dyskenesias associated =BPD Benign neonatal myoclonus Sleep myoclonus Apnea

Salient Nonepileptic Disorders at Different Ages: Age 2-18 months

Paroxysmal torticollis Opsoclonus-myoclonus syndrome Sandiffers syndrome Jactatio capitis Masturbation Paroxysmal choreo-athetosis GERD

Salient Nonepileptic Disorders at Different Ages: Age 18 months - 5 yrs.

Disorder Pavor nocturnus Benign positional vertigo Nodding puppet syndrome Enuresis nocturnus Familial dystonia-chorea Athetosis

Salient Nonepileptic Disorders at Different Ages: 5-12 yrs. & beyond

Tics Complicated migraine ADHD inattentive type Parasomnias Vertebro basilar migraine Syncope Hyperventilation syndrome Panic attacks Affective storms-rage Obstructive apnea

General Principles of Treatment

Avoid polytherapy whenever possible Why? Efficacy-studies have shown that 60%

of people with IDD and Epilepsy can be controlled with one drug

Tolerability

Sedation increases with burden of superfluous drugs

Phamacodynamic effects, can't be measured

Avoid drugs that may worsen comorbid diseases

VPA, CBZ, Wt. Gain, obesity, diabetes, joint disease

Newer Drugs?

There is no evidence that newer drugs are significantly more effective

Distinguished by Less significant AE's Ease of administration Reduced need for surveillance labs, level

monitoring Potential to be useful for comorbidities.

Refractory Epilepsy

There is no consensus regarding the definition of Intractable Seizures. Seizures which persist despite appropriate therapy.

Persistent seizures in spite of adequate trials of 2 or more first and second line drugs dosed to maximally tolerated levels within an acceptable therapeutic range.

Types of Intractable Seizures

True intractable epilepsy Pseudo intractable

Medically and Surgically Intractable Epilepsy

Not accessible for resective surgery Failure of resection surgery Palliative surgery not applicable Failure of palliative surgery

Favorable Factors for Seizure Remission-Clinical

Normal intellectual development Normal neurological exam Absence of any clinical or

imaging evidence of brain damage

Favorable Factors for Seizure Remission-Seizure related Age of onset of Epilepsy > 2 Only one type of seizure Low frequency of seizures No tonic-atonic-astatic seizures Rapid remission with first drug Brief period of poor control No episodes of SE A benign syndromic diagnosis

Favorable Factors for Seizure Remission-EEG related Normal EEG at onset of RX Rapid improvement, normalization of

EEG Normal background features on EEG No slowing or slow spike waves

Approach to the Person with Intractable Seizures

Is it Epilepsy? Have appropriate drugs been

prescribed? Have drugs been taken as prescribed? Does person uniquely metabolize

drug? Have seizure precipitants been

controlled for?

Intractable Epilepsy (continued)

Every PWE deserves a careful evaluation if intractable

Intractable Epilepsy (continued) Presurgical evaulation Record habitual seizures Appropriate imaging Not all MRI's of equal quality Functional Imaging to better define

Epileptogenic Zone: SPECT, PET, FMRI, MEG

Neuropsychology WADA

Intractability (continued)

Nociferous Cortex (NC) seizure causing

Eloquent Cortex (EC) Functionally important

If all data supports hypothesis that NC can be removed sparing EC, patient is a surgical candidate

Goals of Epilepsy Surgery

Surgery freedom or significant reduction of seizure burden to improve quality of life without compromise of: 1. Memory 2. Cognition 3. Language 4. Mood stability

If risks exceed benefits, offer: 1.VNS 2. Ketogenic Diet 3. Palliative

procedures 4. Participation in clinical trials

Issues of Importance in Managing Epilepsy in People with IDD-Seizure Precipitants

Fever-may be hard to document

Infections-may be hard to identify

Hypoglycemia-delay in recognition

Stress-may not be articulated

Etoh withdrawal-may not be suspected

Hyperventilation-may be syndrome related

Medications-antidepressents, mood stabilizers, and mania drugs that cause seizures

Abrupt discontinuation of meds-benzo's/barbs used for behavior intermittently and withdrawal seizures

Conditions Often Misdiagnosed as Epilepsy in the IDD Sudden

aggression,mood shifts

Self abuse Bizarre behavior Movement

disorders Staring Eye blinking Nystagmus

Exaggerated startle

Lethargy

Issues and Challenges in Diagnosing and Caring for Individuals with Epilepsy and IDD

It can be difficult to extract a history from the client, due to language problems and cognitive limitations

Lack of caretakers knowledge base, willingness to be part of the care delivery team- "I'm just the driver doc!"

Poor documentation of relevant features of event (due to our inaccessibility for teaching)

Diagnostic tests may require cooperation, sedation, can limit diagnostic yield of: EEG, neuropsych, WADA, some functional imaging

Issues and Challenges in Diagnosing and Caring for Individuals with Epilepsy and IDD-continued

Individuals with IDD have increased sensitivity to neuropsychiatric drug Adverse Effects

Limited detection of AE's that may be subjective

Paradoxical sensitivities to AE (opposite effects)

Increased risk of seizure exacerbation (DPH)

Increased prevalence of psychiatric, medical comorbidities

Political-economic trends, limited access

Indifference, prejudice born of ignorance and greed

Social Darwinian life boat ethics

Issues and Challenges in Diagnosing and Caring for Individuals with Epilepsy and IDD-continued

Prejudicial and Discriminatory resource allocation-The IDD with Epilepsy will never drive, work, and pay taxes, why commit limited resources?

Limited access to quality social services, counseling, vocational rehabilitation, Psychiatric services

Abbreviations IDD-Individual with

Developmental Disabilities

AE-Adverse Effects QOL-Quality of Life VNS-Vagus Nerve

Stimulation NC-Nociferous Cortex EQ-Eloquent Cortex

PWE-Persons with Epilepsy

MMR-mild mental retardation

SMR-Severe mental retardation

PDD-Pervasive Development Disorder

TBI-Traumatic Brain Injury

CP-Cerebral Palsey