epilepsy Flashcards
epilepsy definition
the tendency to recurrent unprovoked seizures
the most common neurological condition in children
epilepsy
?% of children with outgrow epilepsy
50-60%
causes
- genetic disorders
- structural lesions
- previous brain injury
- epilepsy syndromes (genetically influenced)
epilepsy prevalence
1 in 200 children
seizure definition
physical manifestation of provoked abnormal electrical activity in the brain
types of seizures
- focal
- generalized
- tonic clonic
- absence
- myoclonic
- tonic
- atonic
seizure causes
- febrile seizures (high fever)
- hyoglycemic
- traumatic
- symptomatic
- epileptic
what to do if someone has a tonic clonic seizure
- video
- time it (most stop before 5 minutes)
- check for epilepsy ID
- remove harmful objects in the area
- cushion the head
- DO NOT restrain them
- DO NOT put anything in the mouth
- place the person in a recovery position after the seizure ends
when to call an ambulance for a seizure
- seizure is longer than 5 minutes
- sequential seizures (without stopping)
- someone’s first seizure
- when there are injuries
- when in doubt
signs of a focal impaired awareness seizure
- wandering aimlessly
- fidgeting with clothes
- agitated behavior
- chewing and smacking lips
- confused or slurred speech
- staring trance-like
pathway to diagnosis
- present to ED, GP
- noticed during therapy (SLT, PT, OT)
seizure flow chart
suspected first seizure:
- present to GP or ED (case history and examination)
- differential diagnosis (FND, panic attack, syncope, etc.)
- likely seizure (advice and rescue plan if needed)
subsequent seizure:
- classification of seizure or epilepsy type
- decision about starting anti-seizure drug(s)
when to refer to pediatric neuro
- drug resistance
- diagnostic doubt
- specialized treatment required
- under 3 years old
- under 4 years with myoclonic seizures
- under 4 years with EEG positive absence seizures
- infantile spasms/epileptic encephalopathies
- unilateral structural lesion
- metabolic condition
- deterioration in behavior, speech, or learning
- developmental regression
EEG purpose
to test the electrical activity of the brain
EEG procedure
- electrodes placed on scalp
- painless
- +/- sleep deprivation, hyperventilation, and photic (light) stimulation
- 1 hour
types of EEG results
- Score 0: normal/organized
- Score 1: slow and disorganized
- Score 2: discontinuous or burst suppression
- Score 3: suppressed and featureless
EEG result?
Score 0: normal/organized
EEG result?
Score 1: slow and disorganized
EEG result?
Score 2: discontinuous or burst suppression
EEG result?
Score 3: suppressed and featureless
MRI purpose
- look at electrical activity in the brain
- look for tumor/stroke causing a seizure
genetics purpose
find genetic abnormalities that might contribute to epileptic/seizure activity
types of genetic testing
- karyotype
- microarray
- single gene testing
- gene panel
- whole exome/genome sequencing
karyotype gene test
- looks for missing or extra whole chromosomes
- whole sentence in a recipe might be missing
microarray gene test
- looks for missing or extra parts of chromosomes that could be missed in karyotypes
- missing words from a sentence in a recipe, might not be pathological
single gene test
- looks for variants in a specific gene associated with a known disorder
- misspell a word in a sentence in a recipe (ex. flower vs flour)
gene panel test
- looks for mutations in multiple genes related to a specific condition or group of conditions
whole exome/genome sequencing test
- exome: look for mutations in protein-coding regions (exons) of all genes
- genome: look for mutations across the entire genome, (in coding and non-coding regions)
seizure symptoms
- transitory abnormal phenomena
- consciousness, motor, sensory, autonomic, and/or cognitive changes
tonic clonic seizure
- usually starts with a cry
- sudden fall to the ground
- rhythmic whole body bilateral stiffening with jerking movements
- +/- tongue biting and/or incontinence
- groggy for 20 minutes after a seizure
absence seizure
- 5-10 seconds sudden onset of staring and impaired consciousness
- cannot rouse them (pushing, rubbing hair, nothing)
- includes eye blinking
- +/- lip smacking
- not groggy/drowsy afterwards
- becomes a problem when 40/50 per day, missing out on lectures and life
myoclonic seizure
- sudden brief muscle contractions (jerking)
- single, repetitive movement
tonic seizure
sudden stiffening
atonic seizure
sudden loss of muscle tone
tonic meaning
stiffening
clonic meaning
jerking
what seizure type is most common
tonic clonic
formal classification of seizure types
International League Against Epilepsy (ILAE) 2017 Classification of Seizure Types
focal seizures can spread to ?
generalized seizures
focal onset ILAE classifications
- aware
- impaired awareness
- motor onset (tonic, atonic, myoclonic, etc.)
- nonmotor onset (autonomic, behavior arrest, cognitive, emotional, sensory)
- focal to bilateral tonic clonic
ILAE onset classifications
- focal
- generalized
- unknown
generalized onset ILAE classifications
motor
- tonic clonic
- tonic
- myoclonic
- etc.
nonmotor (absence)
- typical
- atypical
- myoclonic
- eyelid myoclonia
unknown onset ILAE classifications
- motor (tonic clonic, epileptic spasms)
- nonmotor (behavior arrest)
- unclassified
epilepsy syndromes definition
- characteristic clusters or clinical and EEG features
- supported by specific structural, genetic, metabolic, immune, or infectious etiologies
types of epilepsy syndromes with focal seizures
- SeLECTS
- SeLEAS
SeLECTS (background, symptoms)
- 4-10 years old
- development and cognition normal
- usually nocturnal
- infrequent focal seizures stop by puberty
- focal clonic or tonic activity of the throat/tongue and 1 side of the lower face (jerking, pulling, drooling of the face)
- aware, can’t communicate
- can evolve into bilateral tonic clonic seizure
self-limited epilepsy meaning
- seizures in children
- most grow out of it
- usually doesn’t cause any long-term damage
SeLECTS EEG features
- normal background
- high amplitude contro-temporal sharp and slow wave complexes
- activated in sleep
SeLECTS brain lobe
central and/or temporal lobes
SeLEAS (background, symptoms)
- focal autonomic seizures
- often prolonged
- infrequent seizures (only 25% have 1 seizure)
- remission with a few years is typical
- eyes usually drift off/up during the seizure
- slow, long, autonomic symptoms (pale, flushed, vomiting, etc.)
SeLEAS brain lobe
occipital lobe
difference in seizure presentations in front vs. back of brain
- back of brain: slow, long, autonomic (pale, flushed, vomiting, etc.)
- front of brain: quick, motor symptoms
what does SeLEAS stand for
Self-limited Epilepsy with Autonomic Seizures
what does SeLECTS stand for
Self-limited Epilepsy with Centro-Temporal Spikes
generalized epilepsy syndromes
- Childhood Absence Epilepsy (CAE)
- Juvenile Absence Epilepsy (JAE)
- Juvenile Myoclonic Epilepsy (JME)
- Epilepsy with Generalized Tonic Clonic Seizures Alone (GTCA)
*can have any seizure despite categorization
which generalized epilepsy syndrome is the most common
Childhood Absence Epilepsy (CAE)
Childhood Absence Epilepsy (CAE)
- onset 4-10 years
- normal development
- frequent seizures at diagnosis (usually > 40 per day, 20 per hour)
- last 3-20 seconds
Childhood Absence Epilepsy (CAE) EEG readings
- consistent 3Hz spike wave
- seizures often brought out with hyperventilation
Childhood Absence Epilepsy (CAE) treatment
- Ethosuximide
- easy treatment
- normal development
Juvenile Myoclonic Epilepsy (JME)
- older children (10-24 years)
- myoclonic seizures on wakening (also absence and generalized tonic clonic (GTCS)
- generally a worse prognosis, will not grow out of it
which epilepsy has higher rates of ADHD
Juvenile Myoclonic Epilepsy (JME)
Juvenile Myoclonic Epilepsy (JME) triggers
- sleep deprivation
- photic stimulation
Developmental Epileptic Encephalopathy
- frequent epileptiform activity contributes to severe cognitive and behavioral impairments
- have developmental impairments secondary to their underlying etiology
- Lennox Gastaut
what are epileptic encephalopathies
diseases where epileptic activity contributes to severe cognitive and behavioral impairments
Developmental Epileptic Encephalopathy causes
- usually monogenetic
- structural
- metabolic
- secondary to insult (e.g. prematurity)
Lennox Gastaut
- childhood epilepsy syndrome
- typically develops before 5 years, often persists into adulthood
- affects learning and development
- difficult to treat (multiple seizure types)
are Developmental Epileptic Encephalopathy inherited
no, something went wrong at contraception
Infantile Spasms
- onset 1-24 months
- sudden brief episodes of neck flesion, arm extension (limbs jerk up, head nods down)
- usually clusters on wakening
- associated with poor development, developmental regression, and poor outcome
Infantile Spasms associated with ? disorders
- T21 (trisomy 21, Down syndrome)
- tuberous sclerosis
Infantile Spasms EEG
- hypsarrythmia
- Score 1: slow and disorganized
Infantile Spasms treatment
- steroids
- vigabatri
Landau Kleffner syndrome
- rare
- school age children
- epileptiform activity in sleep
- clinical seizures are infrequent and not the biggest issue
- receptive language affected first, can’t interpret the sounds (can physically hear a doorbell, but not know what it is/what it means)
other names for Landau Kleffner syndrome
- Acquired Aphasia of Childhood with Seizures
- Epileptic Aphasia
- Verbal Auditory Agnosia
how to distinguish Landau Kleffner syndrome from ASD
- children with ASD will still come running if they hear a sound/song they like
- ignore other sounds but know what it means
how do anti seizure medications work
- decrease neuron excitation
- enhance neuron inhibition
- sometimes don’t know how they work but we know they treat a disorder
anti seizure medication should be started after…
- 2 unprovoked seizures
- after 1 seizure if it is considered more likely than not that they will have another one (e.g. genetic links)
- specially considered for infrequent seizure syndromes (e.g. SeLECTS, SeLEAS)
is a sequential seizure chance usually higher or lower after 1 unprovoked seizure
- same as having 1 seizure
- 50/50 chance
anti seizure medication goal
- aim for 2 years seizure free
- consider weaning them off the meds
- depends on syndrome
anti seizure medication
- generally taken orally 2x per day
- liquid or tablet form
Buccal Midazolam
- emergency medicine
- considered for those with convulsive seizures over 5 minutes
- injection into the cheeks, can be given by anyone
- rescue plan
non-pharmacological treatments
- ketogenic diet
- vagus nerve stimulation
- epilepsy surgery (remove epileptiform part of brain)
ketogenic diet
- low carbohydrate, high fat diet
- body uses fat for energy, producing ketones
- ketones have an anti-epileptic effect on the brain, improving seizure control
- treat epilepsy that has not responded to other treatments
vagus nerve stimulation
- no seizure control with medication, alternative treatment
- device inserted in the chest wall, attached to the vagus nerve
- detects when the heart rate increases (indicates a seizure)
- gives an electrical signal to stop the seizure
epilepsy surgery
- needs to be very focal
- cons usually outweigh pros
- remove the abnormal signal part of the brain
common co-morbidities in epilepsy
- mental health issues
- behavioral issues
- intellectual disabilities
- sleep issues
- bone health
common mental health issues (and %)
- 37%
- anxiety
- depression
behavioral issues
- ADHD (2-3x higher rate)
- ASD
- aggression
intellectual disabilities %
21.6%
why is there sometimes poor bone health in people with epilepsy
- at higher risk for developing osteoporosis and fractures
- association between medications and osteoporosis
SUDEP
- Sudden Unexpected Death in Epilepsy
- sudden, unexpected, non traumatic, non-drowning death
- witnessed or unwitnessed
- benign circumstances
SUDEP risk factors
- > 3 GTCS per year
- childhood-onset epilepsy
- symptomatic epilepsy
- nocturnal seizures
- ID/developmental delay
- polytherapy
- treatment-resistant seizures
- subtherapeutic drug concentrations
- patients not in active treatment
- genetic conditions
what conditions/issues can look like epilepsy
- febrile seizures
- syncope
- cardiac issues
- hypoglycemia
- movement disorder, tics
- functional neurological disorder (FND)
- TIA
- stereotypes
- migraine
- infantile gratification
febrile seizures (age, context, etc.)
- 6 months to 6 years
- only in the context of a high temperature
- usually short (< 5 min) GTCS
- development normal
treatment for febrile seizures
- avoid medication
- only unless > 5 min
syncope
- fainting
- often in teenagers
- symptoms: feel lightheaded, loss of vision, loud ringing, collapse to the ground
- some stiffening during the syncope
- check lying and standing BP in clinic to differentiate
staring in ASD
- common reason for referral
- rule out absence seizures
- frequency, length of events, clinical course (usually 1x per day, 1+ min usually non-epileptic)
- most won’t tolerate an EEG
other terms for functional neurological disorder (FND)
- dissociative seizures
- non-epileptic attack disorder
- psychogenic seizures
clues to diagnose functional neurological disorder (FND)
- eyes often closed
- hip thrusting
- no injuries
- always witnessed
- no post ictal phase (not tired or groggy)
- asynchronous movements
- side to side head movements
- ictal crying
what is functional neurological disorder (FND)
- symptoms mimic neurological conditions, often fluctuate (weakness, tremors, seizures, or sensory changes)
- caused by a disruption in nervous system function or communication (not from structural damage/disease)
functional neurological disorder (FND) treatment
- multidisciplinary approach (PT, CBT, education)
- usually psychotherapy
tics definition
sudden, repetitive movements/sounds that people make involuntarily
tics age group
- usually school-aged children
- start around early primary school age
tics considerations
- suppressibility
- change over time (8-12 years are the worst)
- worse when stressed or distracted
infantile gratification
- very common
- self-stimulatory psychological behavior
- more common in girls, 2-3 years old
- legs always stiff or crossed
- behavior, will grow out of it
- angry when parents stop them
symptoms
- perspiration
- irregular breathing
- grunting
- no loss of conciousness
