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Presentation on theme: "EPILEPSY IN LEARNING DISABILITIES"— Presentation transcript:

Dr Rolf Feller MRCPsych Consultant Psychiatrist In Learning Disabilities

2 Basic Mechanisms Excitatory Inhibitory Na+ Mg++ Ca+ CI- K+ Excitatory
Ions in epilepsy Transmitters and receptors important in epilepsy Excitatory Inhibitory Na+ Mg++ Ca+ CI- K+ Excitatory Inhibitory Glutamate Gamma-aminobutyric acid (GABA) N – Methyl- D -aspartate (NMDA) Kainate Benzodiazepine

3 Definition An epileptic seizure is a sudden, paroxysmal,
synchronous and repetitive discharge of cerebral neurons. Symptoms depend on area and spread

4 Differential Diagnosis
of sudden paroxysmal changes in behaviour, thinking, feeling and functioning

5 Classification of epilepsy
A. Simple Partial Seizures (Consciousness not impaired) With motor signs: Focal motor without march Focal motor with march (Jacksonian) Versive Postural Phonatory (vocalisation or arrest of speech 2. With somatosensory or special sensory symptoms (simple hallucinations, e.g. tingling, light flashes, buzzing): a. Somatosensory b. Visual c. Offactory d. Gustatory e. Vertiginous

6 3. With autonomic symptoms or signs (including epigastric sensation, pallor,
sweating, flushing, piloerection and pupillary dilatation). With psychic symptoms (disturbance of higher cerebral function). These symptoms rarely occur without impairment of conciousness and are much more commonly experienced as complex partial seizures. a. Dysphasic b. Dysmnesia (e.g. déjà vu) c. Cognitive (e.g. dreamy states and distortions of time sense d. Affective (fear, anger etc) e. Illusions (e.g. macropsia) f. Structural hallucinations (e.g. music, scenes)

7 B. Complex partial seizures (generally with impairment of conciousness:
may sometimes begin with simple symptomatology) (figure 9) Simple partial onset followed by impairment of consciousness With simple partial features (A1 – A4) followed by consciousness With automatisms With impairment of consciousness at onset With impairment of consciousness only With automatisms

8 Partial seizures evolving to secondarily generalised seizures (generalised
seizures may be manifested as tonic clonic, tonic or clonic) Simple partial seizures (A) evolving to GS Complex partial seizures (B) evolving to GS Simple partial seizures (A) evolving to complex partial seizures (B) evolving to GS D. Generalised seizures (convulsive or non-convulsive) a) Typical absence (Figure 10) b) Atypical absence Myoclonic seizures (myoclonic jerks – single or multiple Clonic seizures Tonic seizures Tonic clonic seizures (Figures 11a, b) Atonic seizures (astatic: may occur in combination with any of the above generalised seizures E. Unclassified seizures

9 Aetiology Possible aetiology of epileptic seizures Genetic causes
Metabolic disorders (e.g. phenylketonuira, Neimann-Pick disease) ‘Structural’, e.g. tuberous sclerosis (Figure 2) neurofibromatosis c. Some primary generalised epilepsies (possibly polygenic) d. Mitochondrial disorders 2. Developmental disorders e.g. neuronal migration disorder (See Table 4) 3. Intrauterine and perinatal injury (anoxia) including febrile convulsions 4. Infection (e.g. encephalitis) 5. Trauma 6. Vascular 7. Tumour 8. Dementia and neurodegenerative disorder 9. Metabolic (e.g. hypoglycaemia) 10. Toxic (e.g. alcohol)

10 Aetiology Developmental disorders Dermoid / epidermoid cysts
Cavernous haemangiomas (Figure 3) Arteriovenous malformations (Figure 4) Neuronal migration defects a. Schizencephaly (Figure 5) b. Hemimegalencephaly c. Lissencephaly d. Pachygyria e. Polymicrogyria f. Nodular heterotopias (Figure 6) Dysembryoplastic neuroepithelial tumour DNT (Figure 7) Agenesis of the corpus callosum

11 Aetiology Diagnostic features of tuberous sclerosis
Primary diagnostic criteria Secondary diagnostic criteria (two or more needed for diagnosis) Facial angiofibromas Typical hypomelanic macules Ungual fibromas Bilateral polycystic kidneys Calcified retinal hamartomas Radiographic honeycomb lung (due to pulmonary lymphangiomyomatosis Multiple cortical tubers Single cardiac rhabdomyoma Multiple subependymal glial nodules Single renal angiomyolipoma Multiple subcortical hypomyelinated lesions or wedge shaped cortical-subcortical calcification

12 Diagnostic criteria with an affected first degree relative
Historically proven giant cell astrocytoma Historically proven cardiac rhabdomyomas or echocardiographic evidence of more than one lesion in children Single cortical tuber Single retinal hamartoma Possible additional primary diagnostic criteria Multiple bilateral renal angiomyolipomas Forehead fibrous plaque Shagreen patch




16 Porencephaly – cystic cavity – usually cortex to ventricle
Schizencephaly – bilateral type of porencephaly




20 Aetiology Trauma 3% Vascular 15% Tumours 6% Infections 2% Degenerative
Causes of epilepsy in a community study of first seizures Trauma 3% Vascular 15% Tumours 6% Infections 2% Degenerative Alcohol 7% Cryptogenic / idiopathic 61%





Autonomic: sweating, bradycardia, pallor, cardiac arrythmias (can be confused with vaso-vagal attacks Psychic: jamias vu, déjà vu, fear, ecstasy, depression, amnesia, derealisation depersonalisation, rarely anger Sensory: hallucinations/illusions of vision (formed), olfactory (usually unpleasant) auditory and gustatory Visceral: nausea, ‘rising’ feeling in epigastrium Automatisms: lip smacking, chewing, swallowing, searching, fumbling, wandering, scratching, resistive, undressing. Vocalisation may occur, motionless stare Mesiobasal discharge: autonomic, psychological and visceral phenomena Amygdala/uncal discharge: olfactory/gustatory symptoms Superior temporal gyrus: auditory hallucinations Lateral cortex: visual hallucinations Bilateral spread: automatisms, impairment of consciousness

26 ILAE Classification of Epilepsy Syndrome
Localisation-related (focal, local, partial) epilepsies and syndromes Idiopathic (with age-related onset) Benign childhood epilepsy with centro-temporal spikes Childhood epilepsy with occipital paroxysms Primary reading epilepsy Symptomatic Chronic progressive epilepsia partialis continua of childhood (Kojewnikow’s syndrome) Syndromes characterised by seizures with specific modes of presentation 3. Cryptogenic (presumes symptomatic but aetiology unkown

27 Generalised epilepsies and syndromes
Idiopathic (with age-related onset, listed in order of age) Benign neonatal familial convulsions Benign neonatal convulsions Benign myoclonic epilepsy in infancy Childhood absence epilepsy Juvenile absence epilepsy Juvenile myoclonic epilepsy Epilepsy with grand mal (generalised tonic-clonic seizures) on awakening Other generalised idiopathic epilepsies not defined above Epilepsies with seizures precipitated by specific modes of activation (reflex and reading epilepsies) Cryptogenic or symptomatic (in order of age) a. West’s syndrome b. Lennox-Gastaut syndrome c. Epilepsy with myoclonic-astatic seizures d. Epilepsy with myoclonic absences

28 3. Symptomatic a. Non-specific aetiology * Early myoclonic encephalopathy * Early infantile epileptic encephalopathy with suppression burst * Other symptomatic generalised epilepsies not defined above b. Specific syndromes/aetiologies * Cerebral malformations * Inborn errors of metabolism including pyridoxine dependency and disorders frequently presenting as progressive myoclonic epilepsy

29 C. Epilepsies and syndromes undetermined, whether focal or generalised
With both generalised and focal seizures Neonatal seizures Severe myoclonic epilepsy in infancy Epilepsy with continuous spike-waves during slow wave sleep Acquired epileptic aphasia (Landau-Kleffner syndrome) Other undetermined epilepsies not defined above Without unequivocal generalised or focal features D. Special syndromes Situation-related seizures Febrile convulsions Isolated seizures or isolated status epilepticus Seizures occurring only when there is an acute metabolic or toxic event due to factors such as alcohol, drugs, eclampsia, non-ketotic hyperglycaemia

30 Seizure observation How did the patient feel before the event? In what environment did the event take place? What was the event like? Was the patient standing, sitting or lying? Time of day or night? Did anything ‘trigger’ the event? Was there a warning? (aura) Could the person stop the event by bending down or any other manoeuvre? Was there a fall? Was the patient unconscious or aware (fully or vaguely)? If unconscious, how long for? What was the patient like while unconscious? Was pulse/respiration recorded? Was there incontinence/tongue biting/excess saliva? Was there any associated injury/bruising? What was the patient like after the attack?

31 Getting the best out of an EEG service – notes for the psychiatrist:
When requesting an EEG: Do remember that the EEG does not reveal cerebral tumours, measure personality or intelligence not yet reveal states of mind or what the patient is thinking (i.e. do not ask silly questions!) Do appreciate an EEG does not make or break the diagnosis of epilepsy (although it may confirm the diagnosis if a seizure is recorded). A normal EEG does not mean the patient does not have epilepsy It is an essential tool in the investigation of epilepsy but it needs help; its interpretation is easier if the neurophysiologist making the report has discussed the case with you, has been given a full history of the attacks under investigation (with any obvious precipitant) and knows what medication the patient is taking It would be a courtesy to the technicians in the department to be warned if a Patient is potentially violent or self destructive or needs particularly tactful or Careful handling (EEG equipment is expensive and good technicians hard to replace!) Always provide a suitable escort if the patient is at all likely to be difficult

32 5. If possible avoid the prescription of benzodiazepine drugs for 14 days before the test; but if a patient is taking one of these drugs as an anticonvulsant or to control disruptive behaviour, then do not withdraw it 6. Be prepared to learn: do not just read the report but discuss it with the technicians or the neurophysiologist and look at the actual recording: both are interested in your patient and are keen to help you 7. Don’t ask for ambulatory or telemetered EEG recording unless the patient is having enough seizures or they can be provoked or anticipated. Discuss your requirements with the technician in the department.





37 How to get the best out of an MRI investigation:
When requesting an MRI, give the radiographer/radiologist as much information as possible (e.g. clinical/EEG localisation, significant birth history, history of head injury). If the patient has been imaged before, try to provide the previous images for comparison. 2. Indicate what the clinical question is (e.g. is there evidence of unilateral hippocampal sclerosis?). In temporal lobe epilepsy request the cuts that can eventually be used to compare the hippocampal volumes on both sides 3. If clinical history or physical examination suggests the possible presence of a vascular lesion (e.g. migraine and epilepsy together, recurrent transient lllrd cranial nerve signs) then request magnetic resonance angiography as well – but this is not a routine investigation and leads to longer time in the machine 4. Prepare the patient for the experience: being placed in the scanner is claustrophobic and is extremely noisy. The apprehensive may need sedation (10mg of oral diazepam two hours before) and will therefore need an escort. The learning disabled may need I/V sedation or even light anaesthesia; plan the investigation with the radiologist and be able to justify the need for the information the scan will give. A negative scan can have important management implications.

38 5. Ensure that the experience does not pose undue risk to the patient e.g. early
pregnancy, presence of a magnetisable metal in the cranium, orbit or rest of the body (e.g. cardiac pacemakers, sternal wires or artificial hips). Discuss with the radiographer Remember that an MRI does not measure intelligence, personality or mental state! (Although it may give an explanation for changes in them).

39 Down syndrome Trisomy 21: LD, characteristic facies
- May have cardiac, GI, hearing and visual comorbidity Epilepsy in 20-40% - bimodal peak In first year, infantile spasms with relatively benign course Seizures developing in later life may be generalised (tonic clonic and myoclonus) CPS, SPS and 2ry GTCs common later Reflex epilepsy (startle induced) common EEG may be normal

40 Generalised epilepsies – Cryptogenic or symptomatic
West syndrome (infantile spasms) Lennox-Gastaut syndrome Epilepsy with myoclonic – astatic seizures Epilepsy with myoclonic absences

41 Lennox-Gastaut syndrome
Age of onset 1-8 years Child may be normal, or with encephalopathy or epilepsy Cryptogenic in 20-30% Preceded by West syndrome in 30-40% Seizure types – tonic seizures, atypical absences, atonic or Astatic seizures GTCs and partial seizures may also occur EEG – slow spike and wave, slow background in most Diffuse cognitive dysfunction develops in up to 96% (34% normal age at 4) Seizures persist in 60-80%

42 Other causes of encephalopathy and epilepsy
Chromosomal disorders - Down’s, Fragile X syndrome Genetic - Rett syndrome, Angelman’s syndrome, Aicardi syndrome Metabolic - Progressive myoclonic epilepsies, mitochondrial disorders Malformations - Cortical dysplastic lesions, phakomatoses Infections, vascular disorders, trauma

43 Rett syndrome Normal development in first 6 months
Then acquired microcephaly, loss of skills Hand-wringing, gait apraxia, hyperventilation, screaming Later spasticity, late motor deterioration Epilepsy in 75%-80% Seizures may be partial or generalised, often easily controlled

44 Angelman’s syndrome Perinatal development normal
Diagnosis usually made aged 1-4 Severe developmental delay, lack of language development Other features: ataxia, unprovoked laughter May have microcephaly, wide mouth, light hair, hypotonia, Hyperreflexia Seizures in 80% Most patients have GTCs, atypical absences, myoclonic seizures Characteristic EEG with slowing and notched spike and wave discharges 4-6 Hz rhythmic activity Chromosomal deletion long arm ch15

45 West syndrome Triad of infantle spasms, arrest of psychomotor development, hypsarrhythmia Onset 4-7 months Symptomatic or sometimes crypotogenic Spasms flexor or extensor Prognosis poor 20% die, LD in 70-80% 50%-60% have ongoing epilepsy – partial (20-30%) or generalised

46 Occipitial epilepsies
Childhood onset with occipital spike and wave (panayiotopoulos syndrome) - Age 2-8, peak at 5 - Nocturnal seizures with vomiting, tonic deviation of eyes, 2ry generalisation - Seizures rare, remit in 1-2 years Late onset childhood occipital epilepsy - Begins in adolescence - Ictal amaurosis, hallucinations, then hemiclonic seizures, 2ry generalised or other seizures - Variable prognosis

47 Progressive myoclonus epilepsies
Unverricht – Lundborg disease 21q22.3 Lafora’s disease 6q24 Neuronal ceroid lipofuscinosis Sialidosis MERRF Type 3 neuronopathic Gaucher’s DRPLA

48 Frontal lobe seizures SSMA
- Bilateral tonic / dystonic posturing, fencing, preservation of consciousness Orbitofrontal - Staring, loss of awareness, oral or gestural atuomatisms, autonomic features Anterior frontopolar - Version, forced thinking, falls, autonomic signs Dorolateral frontal lobe - Tonic and clonic activity, head version, arrest of activity Cingulate gyrus - Loss of awareness, oral, manual and gestural automatisms, affective manifestations, clonic mouth movements Opercular area - Salivation, mastication, swallowing, speech arrest, laryngeal symptoms Motor area - tonic clonic activity of affected area

49 Treatment Anticonvulsant drugs Drug Year Introduced Phenobarbitone
1912 Phenytoin 1938 Primidone 1952 Ethosuximide 1960 Carbamazepine 1963 Clonazepam 1974 Sodium Valproate Clobazam 1982 Vigabatrin 1989 Lamotrigine 1991 Gabapentin 1993 Topiramate 1995 Tiagabine 1997 ?

50 Management of the Chronic Patient
General review points: Is this really epilepsy? If it is, has it been classified correctly? Is there an unrecognised epilepsy syndrome? Has the appropriate first line therapy been tried to the limits of tolerance? Is there a compliance problem? Is there evidence of learning difficulty, physical handicap or mental illness? Is there a significant psychological problem? Review previous investigations Is there previously unsuspected cerebral disease? Consider full reinvestigation Consider a surgical option Develop a management plan with second line and third line drugs Consider psychological therapy Any special features (e.g. reflex, clusters, premenstrual)? If all reasonable drugs tried, is this patient suitable for a drug trial? If all therapy has failed and diagnosis of epilepsy is still certain, consider special treatments like diet, or complementary therapies or consider withdrawing all medication

51 Lamotrigine Sodium Valproate
Second line drugs primary generalised (depending on which was used first) Lamotrigine There is an interaction between Lamotrigine and valproate: if lamotrigine is being added to valproate, use very small doses initially (say 5-10mg daily) and if valproate is later withdrawn the dose of lamotrigine will need to be increased. When adding valproate to lamotrigine be prepared to drop the dose of lamotrigine if neurotoxic side effects appear. Sodium Valproate Consider avoiding this drug in women of childbearing potential Avoid generics

52 D. Tiagabine (when available)
Second line drugs (partial onset) depending on which was used first Gabapentin Avoid in proven primary generalised epilepsy B. Lamotrigine C. Carbamazepine Avoid in women of childbearing potential if possible Use sustained release formulation Avoid generics D. Tiagabine (when available)

53 Anti-epileptic drugs Anticonvulsant drugs and learning disability
With all drugs start low, go slow Therapeutic windows are particularly likely to occur in the learning disabled Drugs recommended: Lamotrigine, gabapentin Drugs to be used cautiously: Carbamazepine, sodium valproate tiagabine, clobazam (intermittently) Drugs to be avoided or used Extremely cautiously: Vigabatrin, phenytoin, phenobarbitone clonazapam and topiramate

54 Counselling and social support for people with epilepsy
Birmingham Brainwave information and counselling checklist: The nature of epilepsy The reason for the patient’s epilepsy Appropriate genetic information Discussion of treatment decisions Appropriate information about drug interactions Results of investigations and their interpretation Appropriate first aid Appropriate risk management (individualised) Information about sport and swimming Discussion about social implications of epilepsy Discussion about self-control measures for epilepsy Alcohol and epilepsy Appropriate information and empowerment related to education Appropriate information and empowerment related to employment Appropriate information related to contraception and sexuality* Appropriate information related to pregnancy* Full information about driving* *Record in the notes that this information has been given

55 Months and 12 months post withdrawal (including photosensitivity)
Birmingham Brainwave: suggested withdrawal regimens for anticonvulsants (outpatient Schedule). These regimens assume that the patient is taking another effective anticonvulsant. If monotherapy withdrawal is being practised, the double the Withdrawal time (e.g. monthly becomes every two months, fortnightly becomes monthly) Primidone 125mg monthly Phenobarbitone 15mg monthly Phenytoin 25mg fortnightly Ethosuximide Carbamazepine 100mg fortnightly Sodium Valproate * 200/300mg monthly Clobazam ** 10mg monthly (take last dose alternative days for two weeks) Lamotrigine ¼ of dose fortnightly Gabapentin Vigabatrin 500mg monthly Topiramate * There is empirical evidence that primary generalised seizures may return many months After monotherapy withdrawal of this drug: it may be advisable to check an EEG at 6 Months and 12 months post withdrawal (including photosensitivity) ** Withdrawal may lead to rebound anxiety symptoms and may need to be covered by Diminishing doses of diazepam (as with lorazepam). 10mg tablets are now available of Clobazam, which can be broken in half so that 5mg dose reductions are possible

56 Complex pattern induced epilepsy Reading induced epilepsy
Reflex Epilepsies Flicker induced Complex pattern induced epilepsy Reading induced epilepsy Startle induced epilepsy Musicogenic epilepsy Voice induced epilepsy Language induced epilepsy Touch and vibration induced epilepsy Eating induced epilepsy Taste (of food) induced epilepsy Immersion (hot or cold water) induced epilepsy Sexual stimulation induced epilepsy Arithmetical calculation induced epilepsy Strategic thinking (e.g. chess induced) epilepsy

57 Intelligence, Learning, Cognition and epilepsy
Modalities of cognitive function affected by epilepsy Intellect/academic achievement Including intelligence, reading comprehension, spelling, mathematical reasoning, numerical operations, listening comprehension, oral expression Attention Including sustained attention, selective attention, attentional capacity Abstraction/mental flexibility Including concept formation and sorting/set shifting Visuo-spatial ability Including construction, copying and matching Learning/memory Including primary, secondary and tertiary memory Language Receptive and expressive Sensory/psychomotor skills Including simple motor, complex motor, cognitive motor and sensory perceptual

58 Possible causes of cognitive impairment in people with epilepsy
Focal structural lesion, e.g. tumour, mesial temporal sclerosis Generalised neuronal loss Focal epileptic activity Focal sub-ictal activity Generalised epileptic activity Generalised sub-ictal activity Focal neuronal dysfunction Generalised neuronal dysfunction Impaired mood/motivation Effect of anticonvulsant medication

59 Mental Illness and Epilepsy
Time relationship of the psychiatric syndrome to the seizure Peri-ictal Prodromal Aura Ictal (including partial status) Post-ical 2. Inter-ictal

60 Relationship between anxiety and epilepsy
Anxiety, generalised or phobic, related to the fear of having a seizure ‘Post traumatic’ stress disorder related to threatening incident in seizure Anxiety, generalised or phobic, related to family or social stigmatisation of epilepsy Prodromal anxiety Anxiety as an aura Ictal anxiety (including ‘twilight state’) Post-ictal anxiety disorder Anxiety (usually expressed as agitation) as part of epilepsy related psychosis or organic brain disease Anxiety that precipitates a seizure Anxiety phenomena mistaken for epilepsy

61 Relationship between depression and epilepsy
Depressive reaction (‘grief’) to developing epilepsy Depressive reaction related to family or social stigmatisation Prodromal depression Depression as an aura Ictal depression (including partial status) Post ictal depression Depression related to control of seizures

62 Is it epilepsy? (non epileptic seizures) the Paroxysmal Disorders
Cases of apparent loss of consciousness with little or no movement and possible falling Epilepsy Generalised Partial Other neurological Basilar migraine Meniere’s disease Translent ischemic attack Illrd ventrical cyst Cataplexy Cardiovascular Syncope Stokes-Adams attacks and other arrythmias Aortic stenosis Atrial myxoma Mitral valve prolapse? Other physical Hypoglycaemia Emotional Emotional syncope Hyperventilation Cutting off (avoidance) behaviour: ‘swoon’ Catalepsy

63 Causes of apparent loss of consciousness with convulsive movement
Epilepsy Primary generalised (tonic clonic seizures) Partial seizures with secondary generalisation Complex partial seizures (usually frontal) Symptomatic epilepsy Exogenous (e.g. drug induced, toxins) Endogenous (e.g. hypoglycaemia, anoxia, syncope) Emotionally precipitated (e.g. hyperventilation) Physically based non-epileptic seizures Syncope Hyperventilation Emotionally based convulsive behaviour ‘Abreactive’, related to post-traumatic stress disorder Imitation, conversion disorder Imitation, factitious disorder Imitation, deliberate (malingering) imitation or induction (Munchausen’s disorder by proxy)

64 Women and epilepsy Catamenial epilepsy – an increase in seizure activity around the menstrual cycle - Progesterone - Clobazam Fertility AEDs and interactions Teratogenic Sodium valproate and polycystic ovaries and hyperandrogenism

65 Contraception, encyme – induction
-Carbamazepine -Phenobarbitone -Phenytoin Depo-Provera ok but Levouogestrel (Norplant) contraindicated (>30 contraceptive failures) Preconception planning Foetal AED syndrome (1.25%-11.5%) (minor malformations) (2.3% in general population)

66 Genetics of seizure disorder
Tuberous sclerosis is autosomal dominant Majority of syndromes – autosomal recessive Partial seizures, one parent only (father < mother) Risk of 1:30 Primary generalised 1:10, worse if both parents and/or siblings have epilepsy

67 CASE 1 22 year old man with autism and poorly controlled epilepsy
Family is unable to go out with him due to frequent seizures On Carbamazepine 1000mg bd, oversedated Introduced Valproate and then Lamotrigine, seizure free, but subsequent increase in challenging behaviour Cognitive function increased

68 CASE 2 19 years old man with longstanding moderate to severe
LD with autistic features and poorly controlled epilepsy On Zonisamide and Pregabalin Mute and aggressive Replaced AEDs with Valproate and Lamotrigine over time Regained speech, vastly improved cognitive function and reduced epileptic activity

69 CASE 3 Entered flat for Mental Health Act Assessment
Client in bed, apparently asleep, room smells of alcohol and urine Said to suffer from BADO On Quetiapine and Semi-Sodium Valproate Unarousable On pulling up his eye-lids his eyes are moving up and down as in REM sleep, But he most likely has seizures? Toxic induction – absence Ambulance confirms this but when given Midazolam starts having generalised tonic-clonic convulsions


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