Development and Neurology Flashcards
Status epilepticus is defined as
continuous seizures lasting >30mins or intermittent clinical/EEG seizures >30mins w/o full recovery of consciousness between seizures
After 1* assessment and resus, the priority is to stop status epilepticus by treating any reversible causes like: ___
- hypoglycaemia
- electrolyte disturbance
Name 3 clinical features of Down’s S.
- hypotonia
- flat occiput, flat nasal bridge
- single palmar crease, small mouth, protruding tongue
- incurved 5th finger, small ears, short neck
- wide sandal gap between big and 2nd toes
Name some common conditions associated with down’s syndrome that contribute to early mortality:
- congenital heart disease e.g. AV canal defects
- duodenal atresia
- hypothyroidism, OSA, epilepsy
- coeliac disease, early onset Alzehimer’s
- increased susceptibility to infections
From what 3 cytogenetic abnormalities can Down’s Syndrome arise?
- meiotic nondisjuction (94%)
- translocation
- mosaicism
How does meiotic non-disjunction in Trisomy 21 occur? An error at meiosis occurs, the chromosome 21 pair fails to ___ so 1 gamete has __ chromosomes 21 and one has __.
- separate
- 2
- none
What are all pregnant women offered to screen for increased risk of Down’s S?
-biochemical test measuring markers in blood
-nuchal thickening on US
(new! NIPT-Non-Invasive Prenatal Testing using cf-dna)
Explain how Down’s can arise from Robertsonian translocation
-the extra chrsm 21 is joined onto another chrsm (often 14 but could be 12, 22 or 21)
(NB: one parent may carry a balanced translocation)
Name patterns of abnormal development (applies to how global and specific can be categorised):
-slow but steady
-plateau effect
-regressing (but may not reach normal levels)
NB: severity can be mild/mod/severe/profound
Febrile seizures are epileptic seizures accompanied by ___ in the absence of ___ infection. 3% of children between 6mnths-6yrs have these.
- a fever
- intra-cranial infection
When do febrile seizures often occur? What type of seizure activity are they usually?
- following a viral infection when temperature is rising rapidly
- brief generalised tonic clonic
What is the risk of children with febrile seizures subsequently developing epilespy? Do they cause brain/intellectual damage? NB: there is a genetic component –> increased risk
1-2% (if complex risk increased to 4-12%)
-no
Give examples of what could make a febrile seizure be classified as complex?
-if it’s prolonged or focal or repeated in the same illness
How should febrile seizures be managed? Most are due to a viral illness but what else should be considered?
- reassure parents and give advice (first aid vs siezures)
- bacterial infection e.g. meningitis (NB: neck stiffness/photophobia may not be apparent in the v young so may require an infection screen..)
- +/-screen: blood and urine culture, LP
In a child with febrile seizures and suspected meningitis, what what be a contraindication for LP and mean abx should be immediately started?
- unconsciousness or
- cardiac instability
If there is a history of prolonged febrile seizures (>5min) rescue therapy with ___ ____ can be administered.
-buccal midazolam
Is anti-epileptic meds or EEG indicated for febrile seizures, why
-no, they don’t predict/reduce recurrence and the meds have quite a high risk of adverse effects
Define cerebral palsy (CP): its an umbrella term for a _____ disorder of ___ and/or posture & motor function due to a non-___ abnormality in the ____ ___.
- permanent
- movement
- non-progressive
- developing brain
CP affects ~2/1000 births, biggest cause of motor impairment in children. If the brain injury occurs after 2 yrs old, what is it called as opposed to CP?
-acquired brain injury
The motor disorders of CP is usually evident early but other clinical manifestations emerge over time, such as disturbances in:
- cognition
- communication
- vision, perception, sensation
- behaviour, seizure activity, MSK issues
What classically causes CP? Give a few e.g.s (NB: <10% are post-natal/from hypoxic injury at birth)
- cerebrovascular haemorrhage/ischaemia
- cortical migration disorders, gene deletions
- structural maldevelopment of brain in gestation
What are preterm infants with periventricular leukomalacia secondary to ischaemia/&or intra-ventricular haemorrhage vulnerable to developing?
cerebral palsy
Although rare, name some post-natal causes of CP:
- meningitis/encephalitis/encephalitis
- head trauma
- hypoglycaemia
- hydrocephalus, hyperbilirubinaemia
What investigation can aid establishing the cause of CP? (but not needed for diagnosis)
-brain MRI
Name some early features of CP in the neonatal period:
e.g. asymmetric hand function before 1yr old..
- abnormal limb/trunk posture&tone
- delayed motor milestones
- feeding difficulties, oromotor incoordination, slow feeding, gagging and vomiting
- abnormal gait once walking
What (which should disappear for motor development to progress) may persist and become obligatory in an infant with CP?
-Primitive reflexes
CP is a clinical diagnosis, what should be closely examined in diagnosis?
- posture
- pattern of tone in limbs and trunk
- hand function
- gait
CP can be classified into 4 categories based on neurological features, name these: (3+other)
- spastic (90%) -bilat, unilat or unspecified
- dyskinetic (6%)
- ataxic (4%)
- other
In spastic CP where is the damage? So what is this associated with?
- the upper motor neurone, pyramidal or corticospinal tract pathway
- increased limb tone, brisk deep tendon reflexes
- dynamic catch as spasticity is velocity dependent
What are the 3 main types of spastic CP?
- unilateral (hemiplegia) - unilat arm and leg, face spared
- bilateral (quadriplegia) - all 4 limbs severely affected and trunk and head
- bilateral (diplegia) - all 4 limbs but legs much worse than arms
Unilateral spastic CP often present ~1yo with ___ of affected hand, a __ arm, __ forearm, ___ reaching.
On walking, a __-__ pattern gait on affected side may be seen. Cause may be a neo-natal stroke.
- fisting
- flexed, pronated
- asymmetric
- tip-toe (toe-heel gait)
Biilateral spastic CP is severe and often associated with: __, __ and a mod/severe __ ___. May have a hx of perinatal _ _ encephalopathy. Trunk is involved with tendency for __ ___
- seizures, microcephaly
- intellectual impairment
- hypoxic-ischaemic
- extensor posturing (opisthotonus)
(Diplegia) Bilateral spastic CP, is when the legs are much worse but still hand __ motor activity is poor. Walking is __. This pattern can be associated with __ birth due to ___ brain damage.
- functional
- abnormal
- pre-term
- periventricular
What is dyskinesia?
-involuntary, uncontrolled movements often more evident with active movement/stress
What is dyskinetic CPs 3 features of types movements that may be seen?
NB: primitive motor reflex patterns predominate and tone varies
- chorea: irregular sudden, brief, non-repetitive
- athetosis: slow, writhing movements distally e.g. fanning of fingers
- dystonia: simultaneous contraction of agonist and antagonist muscles of trunk, giving a twisting appearance
How do children with dyskinetic CP present? NB: intellect can be relatively unimpaired.
- floppiness, poor trunk control
- delayed motor development in infancy
- abnormal movements from 1yo
Where is the damage that causes a dyskinetic form of CP?
In the basal ganglia or their pathways (Extra-pyramidal)
What are the most common cause of dyskinetic CP?
Hypoxic-ischaemic encephalopathy at birth
MRI shows bilateral changes mostly in the basal ganglia
How should cerebral palsy be managed?
- give parents info early but prognosis is hard to establish early on
- medical, psychological, social support via MDT
Name 3 novel treatments to improve hypertonia in CP
-botulinum toxin muscle injections
-dorsal selective rhizotomy (nerve roots cut)
-intrathecal baclofen (muscle relaxant)
=basal ganglia deep brain stimulation
What are the most common cause of dyskinetic CP?
Hypoxic-ischaemic encephalopathy at birth
MRI shows bilateral changes mostly in the basal ganglia
How should cerebral palsy be managed?
- give parents info early but prognosis is hard to establish early on
- medical, psychological, social support via MDT