Issues in Developmental Disabilities

Epilepsy in the Intellectually and Developmentally Disabled

Lecture Presenter: Christopher M. Inglese, M.D.

Regional Epilepsy Center St. 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

Affective Mood 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 & Definitions Diagnostic 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 Major Motor Petit Mal Minor Motor

By Electro-Clinical Characteristics* *Determined by the Anatomic Substrate of the Seizure Generator Partial Onset Generalized Onset

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 Can tremendously potentiate the impact of a disability when added to co-existing challenges, comorbidities    Cognitive Neuromotor Sensory    Attentional Behavioral self regulatory Affect and mood

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