Neuropediatrics

1. Neuropediatrics Anna Kostera-Pruszczyk

2. Pediatric neurology • Developmental neurology: 0-10 (14-16-18) • history, neurological exam tailored to the patients age • many disorders only in this age group, or start early (genetic, metabolic, cns malforamations)

3. Early development • First neuronal reflex 8 weeks of gestational age • 11 weeks of gestational age: stimulation of perioral area starts swallowing reflex • since 14 weeks of gestational age: complex reflex behaviour • at birth minimal control of higher CNS centers

4. Primary neurulation - Weeks 3-4 of gestation • Prosencephalic development - Months 2-3 of gestation • Neuronal proliferation - Months 3-4 of gestation • Neuronal migration - Months 3-5 of gestation • Organization - Month 5 of gestation to years postnatal • Myelination - Birth to years postnatal

5. age brain weight ( g) 20 week fl 100 40 week fl 400 18 months 800 3 years 1100 adult 1300-1400 (Dekaban, A.S. and Sadowsky, D 1978)

6. Maturation of the nervous system-the nerve • Myelination since 15 weeks fl to 3-5 y.a. • Conduction velocity as function of: • diameter (doubles till 2-5 y.a.) • nodes of Ranvier (mature at 5 y.a.)

7. MOTOR NERVE CONDUCTION VELOCITY IN VERY PRETERM INFANTS BERT J. SMIT, et al..

8. Neurological exam • Main complaints • pregnancy and perinatal history • developmental milestones • family history (general, consanguinity) • neurological exam tailored to the child’s age

9. Neurological exam • Observe the child at play (spontaneus activity) • some information available only from history (little cooperation) • start with the most important part • unpleasant part of exam at the end • always include pediatric exam

10. Pediatric neurology • Choice the tests after clinical exam and careful differential diagnosis • too many unnecessary blood tests may cause anemia (premature babies) • neuroimaging studies with sedation (CT, MRI) • most tests cause anciety or pain (consider sedation)

11. Interpretation of results • age-matched reference values • consider general condition of the patient • developmantal follow-up

12. Cerebral palsy „Advances in maternal-fetal medicine and neonatology have resulted in dramatic reductions in the mortality of high-risk infants. unfortunately, there has been no progress in reducing the prevalence of cerebral palsy (CP), a group of nonprogressive motor impairment syndromes caused by lesions of the brain arising in early development. in the United States, more than 100 000 people younger than 18 years are disabled by CP.” (Tyson et al. 2004)

13. Cerebral palsy „Advances in maternal-fetal medicine and neonatology have resulted in dramatic reductions in the mortality of high-risk infants. unfortunately, there has been no progress in reducing the prevalence of cerebral palsy (CP), a group of nonprogressive motor impairment syndromes caused by lesions of the brain arising in early development. In the USA, more than 100 000 people younger than 18 years are disabled by CP.” (Tyson et al. 2004)

14. Cerebral palsy • Static encephalopathy • clinical syndrome depends on location and timing of injury • most often unknown identifiable ethiology

15. Cerebral ischemia before the 20th week of gestation can result in a neuronal migration deficit; • between the 26th and 34th weeks, periventricular leukomalacia; • between the 34th and 40th weeks, focal or multifocal cerebral injury

16. CP • Prior to term: • the tendency for hypoperfusion to the periventricular white matter. • Hypoperfusion can result in germinal matrix hemorrhages or periventricular leukomalacia (a spastic diplegic presentation). • At term, circulation to the brain resembles adult cerebral circulation: • hypoperfusion targets injury to the watershed areas of the cortex (eg, end zones of the major cerebral arteries) -a spastic quadriplegic phenotype • the basal ganglia can be affected - an extrapyramidal (eg, choreoathetoid or dystonic) presentation • vascular injuries at term most often in the distribution of the middle cerebral artery - a spastic hemiplegic phenotype

17. CP: risk factors • mother >40 y.a. or <20 y.a. • father < 20 y.a. • Twin (multiple) pregnancy • low birth weight <1000g • prematurity <37 Hbd • viral infection during pregnancy • encephalomeningitis in the 1st year of life

18. Factors during pregnancy also correlated with CP: • Polyhydramnios • Treatment of the mother with thyroid hormone • Treatment of the mother with estrogen or progesterone • A fetus with congenital malformation • Maternal seizure disorder, severe proteinuria, or high blood pressure • Bleeding in the third trimester

19. APGAR and CP • APGAR scores provide a method for documenting cardiopulmonary and neuromotor status in the minutes following birth • low scores cannot be used as an indicator of birth asphyxia

20. Cerebral palsy-diagnosis • history • clinical syndrome • neuroimaging studies (MRI, CT) developmental follow-up necessary for diagnosis of CP !

21. AAN 2004 Practice Parameters - CP • consider diagnostic testing for coagulation disorders if a cerebral infarction is seen • EEG not recommended unless suspicion for epilepsy or an epileptic syndrome is present. • In terms of metabolic or genetic testing, specific studies are not recommended • Specific studies should be guided by the clinical picture

22. AAN 2004 Practice Parameters - CP • The blood and urine studies to be considered: • Lactate and pyruvate: Abnormalities may indicate an abnormality of energy metabolism (ie, mitochondrial cytopathy). • Thyroid function studies: Abnormal thyroid function may be related to abnormalities in muscle tone or deep tendon reflexes or to movement disorders.

23. AAN 2004 Practice Parameters - CP • The blood and urine studies to be considered: • Ammonia: Elevated ammonia may indicate liver dysfunction or urea cycle defect. • Serum quantitative amino acids and urine quantitative organic acids: These studies may reveal inherited metabolic disorders. • Chromosomal analysis, including karyotype analysis and specific DNA testing (to rule out a genetic syndrome, if dysmorphic features or abnormalities of various organ systems are present).

26. The presence of an unexplained regression is suggestive of a hereditary neurodegenerative disease not of CP!!!

27. Cerebral palsy • Spastic quadriplegia • Spastic hemiparesis • Spastic diplegia • extrapiramidal • hypo- atonic CP • cerebellar

28. Wg Disabled Village Children, A guide for community health workers, rehabilitation workers, and families, D. Werner

29. Cerebral palsy vs. epilepsy • quadriplegic: 50-90% • hemiplegic: 34-60% • diplegia: 11-20% usually epi during the first 4-5 years, often resistant to treatment

30. CP • 550 000- 760 000 persons with CP in USA • 80% -adults

31. Floppy infant syndrome • 80% of cases „central” origin • 20% peripharal nervous system lesions • anterior horn cells (Spinal Muscular Atrophy) • peripheral nerve (neuropathy: hereditary or aquired) • neuromuscular junction (myasthenia, congenital myastenic syndromes) • myopathy

32. Floppy infant syndrome: general approach • clinical examination: test reflexes (primary and DTR) • neuroimaging • metabolic workup • EMG • DNA, muscle/nerve biopsy etc.

33. CNS malformations frequent: 3% newborns with serious malformations, 40% of deaths in the 1st year of life due to CNS malformations

34. Head trauma • Traumatic brain injuries a leading cause of death in pediatric age group,over 1/3 of survivors of moderate/severe head trauma with neurological and psychological impairment • USA 600 000 consultations, 250 000 pts admitted to hospital/year for head trauma

35. Head trauma • 0-2 y.a. serious injuries: child abuse!! • 2-6 y.a. falls, car accidents (car seats!) • > 6 y. r. a. car accidents , sports

36. Head trauma: first year of life • Thin bones, • open sutures, • large subarachnoid space • incomplete myelinization

37. Head trauma in children • Sometimes no typical symptoms: only pale, drowsy, irritable • modified GCS • CT if: • GCS<15 pkt. • GCS=15 pkt., and seizures, focal signs, memory ipmairment • GCS as prognostic factor

38. Head trauma-prevention • Car seats • helmets (bike, skates etc.) • remember about possibility of child abuse

39. Febrile seizures • 6 months-5 y.a., positive family history • fever >38,5oC (usually at onset of infection) • simple FS: generalized, short, • complex FS: partial, recurrent, long-lasting

40. Febrile seizures • LP: if complex FS, pretreated with antibiotic, always when in doubt! • treat fever and infection,

41. Febrile seizures Based on the risks and benefits of the effective therapies, neither continuous nor intermittent anti-convulsant therapy is recommended for children with 1 or more simple febrile seizures. The American Academy of Pediatrics recognizes that recurrent episodes of febrile seizures can create anxiety in some parents and their children, and, as such, appropriate education and emotional support should be provided. (AAP Practice Parameters 1999)