Childhood Epilepsies: Insights and Management by Dr. Anuruddha Padeniya

1. Childhood Epilepsies Dr. Anuruddha Padeniya Eisenhower Fellow 2012 Consultant Paediatric Neurologist Lady Ridgeway Hospital for Children, Colombo Academic Head, Faculty of Medicine, Rajarata

2. Objectives • Definitions • Epilepsies vs. Epilepsy • Approach to childhood epilepsy • Treating childhood epilepsy

3. Are all seizures epileptic? Epileptic seizures • Transient clinical events which result from abnormal and excessive activity of synchronised populations of cerebral neurons... Epilepsy • Recurrent epileptic seizures All seizures are NOT epilepsy!

4. Prevalence • 350/100,000 (Gortmaker and Sappenfield, 1984). • However, 3-5% of children will have one or more seizures (Haslem, 2000)

5. Incidence of epilepsy (new cases per year) • 75% of people developing epilepsy are doing so prior to 20 years of age (Holmes, 1992) • No significant difference in incidence between boys and girls was found (Freitag et al. Epilepsia 2001)

6. Significance • 35% diagnosed at less than 16 years old • Partial > Generalised • Associated with many disabilities • Risk of sudden death

7. Causes • Idiopathic • (47%; incidence rate, 29/100,000) • Symptomatic • Cryptogenic • (50%; incidence rate, 30/100,000)

8. Mortality rates in childhood onset epilepsies are three times more than the general population as shown in long term prospective studies. Sillanpää M. NEJM 2010 • Many unmet needs and co morbidities lead to more suffering in these children Perera H. et al CMJ 2004

9. Evolution • Approach to childhood epilepsy • Seizure classification • Epilepsy syndromes

10. Why do we use a syndrome based classification?

11. Purpose of seizure classification & syndromes • Simple • Easy to use • Communication • Therapeutic guidance • Prognostic information

12. Seizure Classification (1981) Generalised -Absence -Tonic -Clonic -Tonic-clonic -Myoclonic -Atonic Partial - Simple -Complex

14. Classification of epilepsies (1989) ? • Localisation related • Symptomatic, Cryptogenic, Idiopathic • Generalised • Symptomatic, Cryptogenic, Idiopathic • Indeterminate • LGS, SME • Special syndromes • FC, Status epilepticus

15. Epilepsy vs. Epilepsies • Syndromic Diagnosis • 5 Axis EEG Diagnosis (DESSCRIBE)

16. The Axis Principle (2001)A Diagnostic Scheme Axis 1: Describe semiology Axis 2: Define seizure type Axis 3: Define epilepsy syndrome Axis 4: Identify underlying aetiology Axis 5: Characterise additional impairments

17. Axis 1 Describe semiology Get an accurate description of the signs and symptoms.

18. Axis 2 Define seizure type Eg: Myotonic Clonic Tonic-Clonic Absence Atonic

19. Axis 3 Define epilepsy syndrome Try to achieve a comprehensive classification under Idiopathic, Syndromic and cryogenic

20. Axis 4 Identify underlying aetiology For optimum care under guidelines

21. Axis 5 Characterise additional impairments Eg : Learning difficulties Behavioural changes

22. ILAE Revised Terminology and Concepts (2010) • Not a new classification scheme • Brought in several lines of developments in the field. But, was it enough?

23. Practical Approach

24. DESSCRIBE Description Epileptic or not Seizure type Syndrome Cause Relevant Intelligence • Behavior Education

25. Epileptic or not ? Most important part of the history is the early phase How it begins… • Context • Premonitory symptoms • Pallor etc.

26. Non epileptic • Breath holding attacks • Benign sleep myoclonus • Syncope • Pseudo-seizures (NEAD) • Non epileptic myoclonus of infancy

27. Epilepsy in Children • 1% children have epilepsy (US ) • Focal epilepsy is more common • Some epilepsy syndromes are unique in children

28. Challenge Of Differentiating Epileptic Seizures Provoked • Febrile seizures • Reflex anoxic seizures • HIE • Hypoglycemia • Hypocalcaemia • Metabolic derangements • Infections • Trauma

29. Febrile Seizures • Most common seizure disorder in childhood, affecting 2 - 5% of children between the ages of 6 months and 5 years • Benign • May be either simple or complex type seizure • Seizure accompanied by fever (before, during or after) without any • Central nervous system infection • Metabolic disturbance • History of previous seizure disorder

30. Epilepsy Management Epilepsy management is NOT only the control of seizures. • Diagnosis (Complete) • Investigations • Treatment of seizures • Management of other aspects

31. Investigations • Analysis of event – Video of the event • EEG – Digital EEG, video EEG • Imaging • Blood investigations – Sugar, Electrolytes, Metabolic

32. Digital EEG Technology

34. Value of Digital EEG • Low cost • Longer duration of recording time • Multiple montages • Facilitates synchronized (real-time) recording • Facilitates seizure classification and symptomatic diagnosis • Use of more EEG leads (Up to 80) • Easy storing and sharing, in digital form

35. Treatment of Seizures • Avoidance of provoking factors • Medications • Ketogenic diet • Vagal nerve stimulation • Epilepsy surgery

36. 60 - 70% respond to a single AED • 25 -30 % of childhood onset epilepsies remain drug resistant from beginning. • Sillanpää M. Brain 2006

37. Available Medications • Sodium Valproate • Carbamazepine • Phenobarbital • Phenytoin • Ethosuximide • Gabapentine • Lamotrigine • Topiramate • Vigabatrin

38. Common Paediatric Epilepsy Syndromes

39. Neonatal Period • Benign Neonatal Epilepsy • Benign Familial Neonatal Epilepsy • Otahara Syndrome • Early Myoclonic Encephalopathy (EME)

40. Infancy • Benign Myoclonic Epilepsy of Infancy • Infantile Spasms/ WEST Syndrome • Severe Myoclonic Epilepsy of Infancy

41. Childhood • Childhood Absence Seizures • Epilepsy With Myoclonic Absence • Benign Epilepsy With Centro-Temporal Spikes (Rolandic) • Some Progressive Myoclonic Epilepsies • Lennox-Gastuat Syndrome • Epilepsy With Myoclonic-astatic Seizures • Landu-Kleffner Syndrome

42. Adolescent • Juvenile Absence Seizures • Juvenile Myoclonic Epilepsy • Epilepsy with GTC on awakening

43. Neonatal Epilepsy

44. Benign Neonatal Epilepsy • Age of onset - 1-7 days of life, usually day 5 • Prevalence - rare • Seizure type - focal clonic seizures or subtle neonatal seizures, usually unilateral, may occur in clusters • Milestones - normal or minor delay • EEG - Rolandicbursts of theta rhythms, localized spikes or slow waves • Neuroimaging - normal

45. Aetiology - idiopathic • Medical treatment – none Phenobarbitone Phenytoin Benzodiazepines • Prognosis - excellent

46. Benign Familial Neonatal Epilepsy • Age of onset - Day 2-3 after birth, occasionally up to 3 months • Prevalence - rare • Seizure type - generalized clonic or tonic clonic • Milestones - normal • Family history of epilepsy - AD inheritance • EEG - brief flattening followed by asymmetrical spike waves • Neuroimaging - normal

47. Aetiology- idiopathic • Medical treatment - none Phenobarbitone Valporate • Prognosis - generally good seizures cease by age of 6 months 10% develop other syndromes

48. Video

49. Case 1 • 2month old girl was referred to Paediatric Neurology Unit with medically intractable seizures that started from second day of life. Birth history and antenatal history were unremarkable. • She was treated with phenobarbitone and did not have seizures for one week but seizures recurred and became increasingly frequent.

50. Examination revealed well developed girl having frequent brief extensor tonic spasms in awake and in sleep status. • Physical examination Normal • Neurological Examination- appeared awake did not fix and follow vacant appearance brachycephaly diffusely hypotonic hyporeflexic • An EEG was performed