Childhood Epilepsies

1. Childhood Epilepsies Dr. Anuruddha Padeniya Eisenhower Fellow 2012 Consultant Paediatric Neurologist Lady Ridgeway Teaching Hospital, Colombo & Teaching Hospital, Kandy RMF – 25 Sep 2013

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. 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- Rolandic bursts of theta rhythms, localized spikes or slow waves • Neuroimaging- normal

44. Aetiology – idiopathic • Medical treatment- none, phenobarbitone, phenytoin, benzodiazepines • Prognosis - excellent

45. BENIGN FAMILIAL NEONATALEPILEPSY • 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- autosomal dominance inheritance • EEG- brief flattening followed by asymmetrical spike waves • Neuroimaging- normal

46. Aetiology – idiopathic • Medical treatment- none, phenobarbitone, valporate • Prognosis – generally good, seizures cease by age of 6 months, 10% develop other syndromes

47. OHTAHARA’S SYNDROME • Age of onset- First month of life • Prevalence – rare • Seizure type – brief tonic spasms • Milestones – delayed • Family history of epilepsy- not usually, some have family history of febrile seizures • EEG- burst suppressions • Neuroimaging- abnormal

48. Aetiology – major brain malformations • Medical treatment- usually ineffective, but corticosteroids, valporate, vigabatrin,benzodiazepines tried • Prognosis – poor, frequent evolution in to West syndrome and Lennox-Gastaut syndrome

49. EARLY MYOCLONIC ENCEPHALOPATHY • Age of onset- Neonatal period • Prevalence – rare • Seizure type – polymyoclonus, generalized myoclonus, evolving in to infantile spasm after several months • Milestones – delayed • Family history of epilepsy- often present • EEG- burst suppressions • Neuroimaging- normal initially or abnormal

50. Aetiology – genetic and metabolic disorders, non ketotichyperglycinaemia • Medical treatment- usually ineffective, but corticosteroids, valporate, vigabatrin,benzodiazepines tried • Prognosis – poor, 50% die within a year, may transiently evolve in to West syndrome