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Developmental Disabilities: Faces, Patterns, Possibilities
The Diagnostic Detective: Epilepsy
Some Facts About Epilepsy and Its Causes
• Seizures are the most common neurologic disorders affecting children • 5% of children have a seizure during childhood There are 380,000 children with uncontrol ed seizures in the USA Of al new cases of epilepsy, 90% occur before the age of 20 One in one hundred Americans have epilepsy Post - traumatic Epilepsy
Higher incidence with penetrating trauma Early seizures (first week after trauma) Late seizures in 25-45% of patients (50% by one year; 80% by two Many develop complex partial seizures as a result of head trauma Dilantin effective in treating early seizures Prophylaxis with Dilantin does not decrease the incidence of late onset
Infection of the Brain
High risk for epilepsy even several years after the original infection (brain
Abnormality of Blood Vessels in the Brain Leading to Strokes/Bleeding in
the Brain
Untreated surgical y: 1% per year risk for epilepsy If seizures were to develop after surgery, usual y occurs in the first five
Genetic Disorders with Increased Risk for Seizures/Epilepsy
Chromosomal Abnormality: Deletion, Trisomies Epilepsy Syndrome
Grouping of similar epileptic patterns based on seizure types, EEG, age of onset, Developmental Disabilities: Faces, Patterns, Possibilities

Landau Kleffner Syndrome (acquired epileptic aphasia of childhood)
Loss of language, particularly receptive, in previously normal child Etiology unknown, occasional y due to encephalitis EEG: focal abnormalities in dominant temporal lobe, continuous spike- Associated disability: language deficits may not improve despite better Treatment: may not be responsive to medication West Syndrome (Infantile Spasms, MIS, or Massive Infantile Spasms)
Myoclonic jerks (flexion or extension of the trunk, arms and legs) occur in Uncontrol ed seizures which eventual y cease with or without treatment Commonly becomes Lennox Gastaut or multi-focal seizures Etiology: some unknown; known causes include tuberous sclerosis, CNS Associated disabilities: loss of developmental landmarks common at onset, with significant mental retardation general y universal Treatment: medication, in particular Vigabatrin; ketogenic diet; surgery Lennox Gastaut Syndrome
Multiple seizure type (atonic, clonic, atypical absence) EEG: 1-2.5 Hz spike and wave (slow spike and wave) Etiology: 1/3 unknown; among known causes tuberous sclerosis, brain Associated disability: mental retardation common at onset and nearly Treatment: monotherapy rarely works, polytherapy often needed, with Felbatol emerging as the drug of choice; surgery, if appropriate primarily to Benign Rolandic Epilepsy
Occurs between three and thirteen years of age (peak 9-10 years of age) EEG: Central temporal spikes in drowsiness Developmental Disabilities: Faces, Patterns, Possibilities
Events Which May Lower Seizure Threshold And Trigger Seizures
Intercurrent il nesses (fever, infections) Diagnosis of Epilepsy

Neurological Evaluations
Physical examination may include the fol owing Referral to other specialists, such as Neurosurgery, Genetics Electroencephalogram (EEG)
Guides clinical management (e.g., choice of drugs, continuation of Provides evidence of localization when epilepsy surgery is contemplated General y of no benefit in children with febrile convulsions Abnormal EEG (epileptiform abnormalities) does not necessarily indicate the presence of epilepsy, and can be found in 3% of normal children & up to 1/4 of healthy siblings of children with benign partial epilepsy Developmental Disabilities: Faces, Patterns, Possibilities
Management of Epilepsy

Seizure Medications

Phenobarbital (Luminal)
• For generalized tonic-clonic seizures; al forms of partial seizures • Possible side effects: sedation, paradoxical excitement, rash, irritability and hyperactivity, especial y in children • Most common signs of toxicity: drowsiness, ataxia, crossed eyes, slurred Phenytoin (Dilantin)
• For generalized tonic-clonic seizures: al forms of partial seizures • Possible side effects: skin eruptions, coarsening of facial features, decreased blood folate levels, hepatitis, systemic lupus, fever, gum problems, hypocalcemia, osteomalacia, lymphadenopathy • Most common signs of toxicity: crossed eyes, ataxia, slurred speech, Primidone (Mysoline)
• For generalized tonic-clonic seizures; al forms of partial seizures • Possible side effects: same as Phenobarbital • Most common signs of toxicity: same as Phenobarbital Ethosuximide (Zarontin)
• Possible side effects: nausea, skin rash, drowsiness, hiccups, blood dyscracias • Most common signs of toxicity: nausea, vomiting, anorexia, lethargy,
Carbamazepine (Tegretol)
• For al forms of partial seizures; generalized tonic-clonic seizures • Common side effects: nausea, vomiting, anorexia, blood dyscracias • Most common signs of toxicity: vertigo, drowsiness, crossed eyes, diplopia, Valporic Acid (Depakene)
• For absence seizures; mixed seizures in which absence is present • Common side effects: nausea, vomiting, drowsiness, weight gain, hypersalivation, diarrhea, transient alopecia, thrombocytopenia, liver toxicity • Most common signs of toxicity: ataxia, sedation Developmental Disabilities: Faces, Patterns, Possibilities
Newer Anticonvulsant Medications
Gabapentin (Neurontin)
• FDA approved in 1993 for partial seizures with/without secondary generalization in patients older than 12 years • Not yet approved for use with younger children Felbamate (Felbatol)
• Used for treatment of refractory seizures and Lennox Gastaut syndrome • Side effects may include headache, dizziness, ataxia, nausea, vomiting, Topiramate (Topamax)
• FDA approved in 1996 as add on therapy in adults with partial epilepsies • appears effective in Lennox Gastaut syndrome, partial and generalized • Side effects may include sedation, confusion, cognitive dysfunction (reversible Lamotrigine (Lamictal)
• FDA approved in 1994 for added therapy of partial seizures in patients older • Not yet approved for children younger than 16, except for those with Lennox • Effective for generalized seizures, Lennox Gastaut, juvenile myoclonic and • Works for children with or without neurological impairment/encephalopathic • Side effects may include slight dizziness, ataxia, somnolence, rash Vigabatrin (Sabril)
• Good results for refractory partial seizures, cryptogenic partial seizures and • In children, particularly efficacious for infantile spasms Fosphenytoin (Cerebryx)
• FDA approved for adults as parenteral form for status epilepticus. Not yet • Composition change for dilantin so does not have the tissue toxicity as IV Developmental Disabilities: Faces, Patterns, Possibilities
• Side effects comparable to IV Dilantin (dizziness, ataxia, headache) When To Stop Seizure Medication?
• Primarily generalized epilepsy or partial seizure without secondarily • Rapid response of seizures to anticonvulsant • Seizure free for 2-5 years on anticonvulsant • For intractable seizures, surgery wil now be considered earlier as an option • Cortical resection for epilepsy first demonstrated in the 1940's and 1950's • In children the technique was emphasized in the 1960's and 1970's • Outcome 70-85% significant reduction/near free or free of seizures fol owing • Less successful fol owing extra temporal lobectomy Vagus Nerve Stimulation
• Electrical stimulation of the vagus nerve • Implantable device in the chest wall • Side effects: pain, discomfort in the throat, changes in voice tone, hoarseness, paralysis of the vocal cord, nausea, ringing in the ears, Developmental Disabilities: Faces, Patterns, Possibilities
Ketogenic Diet
• First devised in the 1920's to treat children with intractable seizures • Diet high in fat and low in carbohydrate and protein (ratio of 4:1) • It is suspected that it works through the neurotransmitter GABA • Works best in children aged 1-8 years, with idiopathic epilepsy rather than • Outcome for seizure control: 1/3 fully control ed, 1/3 partial y control ed, and 1/3 with no improvement. Those with full seizure control remain free of seizure fol owing discontinuation of diet • Rigorous, chal enging, and time-consuming for the family • Side effects include constipation, thirst/hunger, irritability, inattentive, low blood sugar, and kidney stones. Long-term effects unknown: possibly obesity, • Typical day on the diet: breakfast-scrambled eggs with butter, diluted cream and orange juice; lunch-lettuce leaf with mayonnaise, spaghetti squash with butter and parmesan cheese, orange diet soda mixed with whipped cream; dinner- asparagus with butter, chopped lettuce with mayonnaise, hot dog slices with catsup, vanil a cream popsicle


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