Fits faints and funny turns Flashcards

Question

Genetics and epilepsy

Answer 1

Explosion of genetic input into diagnosis of epilepsies - Familial epilepsies – e.g. benign - familial neonatal convulsions (KCNQ2, KCNQ3) - Specific genetic mechanisms – e.g. SCN1A mutation in Dravet, GEFS+ . Genetic conditions characterised by epilepsy - ARX - PDCH19 - Ring chromosome 20 . Genetic conditions complicated by epilepsy - Rett syndrome (MECP2, CDLK5) - Angelman syndrome

Answer 2

Drug therapy Surgery Service delivery Co-morbidities

Answer 3

~ 70% of people with epilepsy will achieve seizure control with a single appropriate drug 10 - 20% will achieve reasonable control with 2 (or more) drugs 10 - 20% will not have adequate seizure control

Answer 4

Single drug (or rational polypharmacy) is desirable Careful attention to side effects Tailoring of drug therapy to epilepsy syndrome (as far as possible) Drugs suppress seizures - they do not “cure” epilepsy

Answer 5

Requires clear identification of basic underlying seizure types Focal Generalised Syndrome diagnosis ideal Tailor drugs to seizures (add-on vs substitute) Numerous drugs available – need for data

Answer 6

Before combination therapy is considered, people should be given a trial of appropriate monotherapy Caution needed during changeover periods between drugs. Not possible to determine whether any one drug was more likely to bring about seizure freedom over the longer term than any other

Answer 7

Gabapentin1 Lamotrigine1 Zonisamide4 Oxcarbazepine2 Tiagabine1 Vigabatrin1 Levetiracetam3 Topiramate1

Answer 8

Effective drug therapy Avoidance of side effects Good service delivery Life style issues Aim is optimal quality of life

Answer 9

Epilepsy can be considered to be refractory to medical treatment when there are continued epileptic seizures despite a trial of two appropriate anti-epileptic drugs given to tolerance The drugs should have been administered in a dose which is considered to be within the therapeutic target range Accounts for 10-20% childhood epilepsy

Answer 10

Medical issues Not epilepsy Mis-diagnosis of epilepsy syndrome Wrong choice of drug Inappropriate drug dosage “True” refractory epilepsy Patient related issues Non-compliance Lifestyle issues

Answer 11

Structural pathology Progressive disease Neurodegenerative disorder e.g. Batten’s Tumour Recognised refractory epilepsy syndrome SMEI Lennox Gastaut syndrome Etc Not known

Answer 12

Re-evaluate history and all investigations Review previous drug therapy Confirm compliance THEN: Consider next drug options Consider referral to paediatric neurologist Possibility of epilepsy surgery

Answer 13

Education Behaviour Social stigma Lifestyle issues Driving, etc Death Accident Status epilepticus SUDEP

Answer 14

50% children achieve below level expected by IQ Attentional difficulties Specific learning difficulties 1/6 have frank learning difficulties

Answer 15

Underlying cause of epilepsy Seizures Sub-clinical discharges Transient cognitive impairment Drugs Teacher/parental attitudes Depression, etc.

Answer 16

Education Behaviour Social stigma Lifestyle issues Driving, etc Death Accident Status epilepticus SUDEP

Answer 17

Children with epilepsy are consistently more behaviourally disturbed and have lower self-esteem than children with diabetes

Answer 18

Neurobiological factors “non-epileptic” factors effects of treatment direct epileptic mechanisms effects of epileptic activity on the brain External factors stigma restrictions due to seizure unpredictability

Answer 19

No studies on intervention in behaviour difficulties Careful assessment of possible causes of behaviour difficulties in each child Education of child/family may be of value cf. Lewis et al, 1990 Attention to family interactions Formal psychiatric intervention Maximise seizure control Active treatment of interictal abnormalities in Landau Kleffner Avoidance of known AED precipitants Low threshold for AED change Avoidance of polypharmacy Role of early surgery