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Lecture on Development Disabilities and Epilepsy for Healthcare Specialists Neil Schaul M.D. Neurologist/Epileptologist Associate Professor of Clinical.

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Presentation on theme: "Lecture on Development Disabilities and Epilepsy for Healthcare Specialists Neil Schaul M.D. Neurologist/Epileptologist Associate Professor of Clinical."— Presentation transcript:

1 Lecture on Development Disabilities and Epilepsy for Healthcare Specialists Neil Schaul M.D. Neurologist/Epileptologist Associate Professor of Clinical Neurology Weil Medical College of Cornell University

2 What are Developmental Disabilities ? u A group of disorders that originate in the CNS (central nervous system) u Caused by: static processes (stroke, trauma, genetic) u Onset in developmental period: prior to 3 years of age u Most frequent conditions –Cerebral palsy –Mental retardation –Autism u Multiple disabilities may coexist

3 Topics u Cerebral Palsy u Mental Retardation (intellectual deficiency) u Autism u Concomitant conditions –Epilepsy **** –Psychiatric disorders

4 Cerebral Cortex

5 A Neuron (Brain Cell)

6 Complexity of One Neuron cell body in blue, axons in red, dendrites in green, boutons in white where axon communicates with other neurons

7 Cerebral Palsy (CP) u Non progressive syndrome of posture and motor impairment u Due to insult of the developing Nervous System u 2-4 per 1000 children u Increase in the past 20 years –Due to improved neonatal care –Improved reporting/documentation

8 CP - features u Etiology – irreversible damage to either brain, brain stem or spinal cord –Multiple births, 2 nd stage labor > 4hrs, intrauterine infection, fetal infection, antepartum vaginal bleeding, fetal anoxia u Types –Quadriplegia – (40%) 4 limbs –Diplegia (30%) – 2 limbs, mainly legs –Hemiplegia (30%) – one side

9 Child with left hemiparesis u Internal rotation left shoulder u Elbow flexion u Wrist flexion u Thumb in palm u Hip adduction u Knee flexion u Ankle, hind foot, big toe change in posture

10 CP – outcome u Survival – same as normal population aside from those with severe quadriparesis and profound MR u 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

11 Terminology regarding cognition u Mental Retardation: some find “retardation” derogative but in the U.S. agencies are named MRDD (mental retardation developmental disability) u Mental or intellectual deficiency – more neutral u IDD – intellectual and mental deficiency (I will use the above terms interchangeably) u Global developmental delay – actually a misnomer because it implies there will be a “catch up”

12 Definition u Limitations in intellectual functioning and adaptive behavior (onset before age 18) u Conceptual, social, practical adaptive skills u Older definitions include IQ (70 to 50, less than 50), but this is less useful in individuals with a handicap

13 What is intellectual deficiency? What is intelligence ? u Capacity to process information u To be able to program and adapt information u Involves ability to solve problems u Memorize information u Focus attention u CAPACITY TO TRANSCEND ONES IMMEDIATE CIRCUMSTANCES AND ADAPT FUTURE ACTION

14 Levels of Mental Deficiency MentalLanguageEducationWorkDaily Living BorderlineNormalRemedialEmployable Independent Some 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 help Totally dependent

15 Levels of MR in DD population (Wyoming)

16 What is autism ? u 3 Core issues –Sociability –Communicative incompetence –Limited range of interest u Autism Spectrum Disorders –Asperger (lack of delay in language) –Pervasive developmental delay – not otherwise specified (milder symptom in one domain of the core issues)

17 Core Issues u Sociability –Inability to engage others, gaze aversion, inappropriate intrusiveness, lack of empathy, inability to read facial expressions and language u Communication –Failure to speak or comprehend, defect in the melody of language, sing song speech u Interests –Narrow range, resistant to change, tolerance of monotony

18 Motor Behaviors u Flapping hands when excited u Twisting fingers u Withdraws from tactile contact u Excessive sniffing and licking

19 Autism and Epilepsy u Estimated that 1/3 of individuals with autism have seizures. u Seizures most common in those with significant intellectual deficiency u Remember an abnormal EEG does not mean epilepsy. u Overestimates may be due incorrect interpretation of behaviors or of EEG data.

20 Psychiatric Issue in the IDD population u Issue of inability of the individual being able to provide description of there internal mental life and experiences u Detection of mental illness is extremely problematic and at times impossible in this group u Directly observed behavior more relevant than subjective description u Examples –Appetite, energy level, sleep habits, mobility, stereotyped behavior

21 What is Epilepsy ? u Recurring unprovoked seizures (2 or more) u A single seizure combined with a brain alteration that increases the likelihood of future seizures

22 Definitions - Seizure u From the Greek – “to take hold” u Implies a sudden and severe event u Clinical and Electrical Manifestations u TRANSIENT OCCURRENCE OF SIGNS AND SYMPTOMS DUE TO ABNORMAL NEURONAL ACTIVITY

23 Prevalence of Epilepsy u 1% of the general population u Intellectual deficiency - 15% with seizures u MR with IQ <50 - 30% u MR and Cerebral Palsy - 38% u MR due to post natal injury - 66% u CP without MR - 3%


25 Diagnosis of Epilepsy u Historical information from individual and observer u Prolonged EEG u Video EEG on or off medications u Imaging – MRI

26 To make an accurate diagnosis u Age of onset u Seizure manifestations (most difficult to know) u Manifestations from direct observation or from description of an observer u EEG findings during an attack (ictal EEG) usually requires a prolonged EEG or EEG during hospitalization. u EEG in between attacks (inter ictal recording): abnormal EEG finding does not prove events are epileptic seizures.

27 Ambulatory EEG


29 MRI

30 MRI – horizontal cut

31 Challenges to making the diagnosis of epilepsy in the DD Population u Cornerstone of diagnosis –History, observation, examination, imaging, electrophysiology u Inability of individuals to provide accurate description of their internal mental life u Variably trained and often overtaxed staff u Difficulty for the patient tolerating neurodiagnostic testing (e.g. keeping the electrodes in place)

32 Behaviors in the IDD patient that may look like epilepsy u Aggressive behavior u Repetitive movements u Rolling head back and forth u Screaming and yelling u Repetitive speech u Talking to self loudly u Autistic motor behaviors –Flapping, twisting u Psychogenic seizures

33 Common events diagnosed as epilepsy that are proven nonepileptic u Abnormal movements u Staring u Behavioral episodes u Sleep disorders

34 Epilepsy in the IDD population u Higher incidence of multiple seizures types u Higher rate of intractability u Lower rates of remission

35 Current Treatment of Epilepsy u Medications - 10-80% (50%) seizure free u Surgery - 50-80% seizure free u Vagal Nerve Stimulator - <10% seizure free u Ketogenic diet - 30% seizure free

36 Some features of genuine epileptic seizure as opposed to nonepileptic events u Epileptic seizures generally have a sharp onset and a gradual offset (patient maybe asleep when seizure ends) u Most seizures last less than 3 minutes u Specific triggers are unusual in epilepsy (i.e. emotional, pain, becoming upset) u 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).

37 Epilepsy treatment principles in the IDD individual u Efficacy –Monotherapy if possible –Appropriate AED (antiepileptic drug) for seizure/epilepsy type u Safety –Consider drug-drug interactions –Be aware of adverse events –Select drug that will not exacerbate other conditions (motor, mood, behavior) u Simplification –Minimize number of agents used –Minimize number of daily doses


39 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

40 Issues with using multiple agents u Increased toxic effects u Increased interactions u 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

41 Advantages of Monotherapy u Better seizure control u Lesser drug toxicity u Higher level of patient compliance u Reduced cost

42 What patients to consider for simplification u Seizure free patients u Patients with good seizure control but on multiple AED’s u Patients on sedating type agents

43 Reinvestigation may offer the following u Educating staff regarding epilepsy u Education regarding side effects u Observing for change in behavior in face of new or changed AED u Video EEG monitoring in the home or residential facility

44 Adverse Effects – AED’s for life u Bone disease (many AED’s) –P 450 enzyme induction decreases vitamin D –Osteoporosis and osteomalacia –Risk of pathological fractures –Calcium and Vitamin D supplementation u Cosmetic Effects (dilantin) u Weight gain (valproate) u Connective tissue disease (phenobarb)

45 Changing Concept of disability u 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 u No longer simply a seizure count u Goals Include –eliminating or minimizing seizures –eliminating or minimizing side effects –maximizing psychosocial functioning

46 Beyond the seizure count u Seizure description – timing, duration, time of day u Impact on safety, activity, participation u Tendency to cluster u Injury possibility – to use or not to use protective device

47 What we do – when and why to hospitalize u Out of control (too many seizures) u Diagnosis – seizure vs. non seizure u Differentiate – partial vs. generalized u Considerations for other treatments – would epilepsy surgery help –Palliative or Curative u Medication – can we simplify medication regime –Change timing –Changes in poly therapy

48 Problems I see u Not everything that shakes is a seizure u Inappropriate labeling – correct diagnosis crucial u Dealing with a seizure –Often no need to miss activity or work –Dangers of the local ER –Inappropriate use of drug levels –Rescue therapy u Multidisciplinary treatment can be a misnomer –Doctors do not always talk to each other u Communication – electronic medical records may help u Use of in home video

49 Summary u Seizures are a common co morbidity in the MRDD (IDD) population. u Range from 20-50%. u Diagnosis and Treatment difficult. u Recommend individuals with experience with epilepsy in this population. u Goal is finding an intervention most consistent with individual’s full participation in life. u Diagnosis – Diagnosis – Diagnosis.

50 Sources u Epilepsy and Mental Retardation – edit Sillanpaa and Gram and others 1999 (book) u Disorders of Motor and Mental Development, Autistic Spectrum Disorder in Merritt Textbook of Neurology – 12 th edition 2009 – Chapters 84 and 85 by Isabelle Rapin and Suzanne Goh, u 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) u Epilepsy Research – 1996 – Pellock – A decade of modern epilepsy therapy in institutionalized MR patients

51 More Recent Sources u Epilepsy Issue in Continuum: June 2013; vol 19, # 3, chapters on classification, antiepileptic drug treatment, management of childhood epilepsy, genetic testing u Epilepsy in children with cerebral palsy: Singhi, et al J. Child Neurol 2003 u Epilepsy, cognition, and behavior: Berg, Epilepsia 52 (suppl) 1; 7-12, 2011 u Medically refractory epilepsy in autism: Gemma Sansa, et al. Epilepsia 52 (6) 1071-75, 20011

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