Neurology + Development (1s)

Question 1

What is status epilepticus?

Answer 1

• defined as 5 or more minutes of either continuous seizure activity or repetitive seizures with no intervening recovery of consciousness
• traditionally SE was defined as 30 or more minutes
• however, this time frame has been reduced to 5 minutes to emphasise the seriousness of the condition and the need to treat it urgently

Question 2

What is the management for status epilepticus?

Answer 2

• initially → high flow O₂, check glucose, ensure patent airway
• seizure Tx:
  
  • lorazepam → if IV access present (can give second dose after 10 mins)
  • buccal midazolam or rectal diazepam if no IV access (can also give second dose after 10 mins)
• seizure persists? → IV phenytoin (or phenobarbitone if already on), paraldehyde can be given whilst preparing phenytoin if available
• seizure still persists? → rapid sequence induction w/ thiopentone + intubation

Question 3

Describe the important structural changes in the brain during foetal life

Answer 3

Question 4

List the normal primitive reflexes and when they should disappear

Answer 4

Question 5

What are the 4 developmental systems?

Answer 5

• gross motor
• fine motor + vision
• hearing, speech + language
• social and behavioural

Question 6

What are the key gross motor milestones?

Answer 6

• newborn → limbs flexed, symmetrical posture, marked head-lag on pulling up
• 6-8wks → raises head to 45^o
• 6-8 months → sits w/out support, primitive reflexes lost
• 8-9 months → crawling
• 10 months → walk around furniture
• 12 months → walks unsteadily, broad gait, hands apart
• 15 months → walks alone steadily
• 18 months → runs
• 2 years → jumps
• 3 years → heel to toe walking, rides tricycle
• 4 years → hops

Question 7

What are the key milestones for fine motor and vision development?

Answer 7

• newborn → follows face in midline
• 6wks → follows moving object by turning head
• 4 months → reaches out for toys
• 6-7 months → transfers toys from one hand to another + palmer grasp
• 10 months → pincer grip
• 14 months → 2 block tower, scribbles w/ pencil
• 18 months → 3 block tower
• 2 years → 6 block tower
• 3 years → draw circle
• 4 years → draw man, cross
• 4.5 years → draw cross
• 5 years → draw triangle

Question 8

What are the key milestones for speech, hearing and language development?

Answer 8

• newborn → startles to loud noises
• 2-4 months → vocalises, ‘coos’ and laughs
• 7 months → turns to soft sounds out of sight
• 10 months → sounds used discriminately to parents - dada, mama
• 12 months → 2-3 words other than mama, dada
• 18 months → 10 words, can show 4 parts of the body
• 20-24 months → 2 or more words to make simple phrases
• 2.5-3 years → talks constantly in 2-3 word sentences
• 3 years → can give first + last name, recognises 3 colours, question words
• 4 years → speech fully comprehensible to strangers

Question 9

What are the key milestones for social development?

Answer 9

• 6 wks → smiles responsively
• 6-8 months → puts food in mouth
• 9 months → wary of strangers
• 12 months → waves + plays peek a boo, drinks from cup
• 18 months → symbolic play (w teddy)
• 24 months → some toilet awareness
• 3 years → interactive play
• 4-5 years → chooses best friends

Question 10

How do you do the neurodevelopmental assessment of a younger child?

Answer 10

• child usually accompanied by a parent
• examine child sitting on parents knee - fine motor/vision, language/hearing + social skills can all be assessed without separating child from parent
• gross motor can be assessed at the end of the exam whe the child is likely to be more comfortable with you in the room
• ask parents what the child can do as unlikely child will be able to perform all required tasks

Question 11

Down’s Syndrome is the most common chromosomal abnormality in humans occurring in 1 in 650 live births. It is also known as trisomy 21. It can occur in two ways: non-dysjunction (95%) or Robertsonian translocation (5%).

What are the risk factors for Down’s Syndrome?

Answer 11

• advanced maternal age
  
  • risk: 1 in 900 (age 30), 1 in 105 (age 40), 1 in 12 (age 49)
• previous child w/ DS
  
  • 1% chance increase after one child w/ DS
• parental karyotype w/ a translocation

Question 12

What are the clinical features of Down’s in the foetus?

Answer 12

• nuchal translucensy test done at 11-14wks gestation → examines thickness of the back of foetus’ neck
• this combined w/ blood tests (PAPPA, b-hCG), size of baby + mother’s age provides an estimate of DS risk
• if risk high → amniocentesis or chorionic villus samplng to examine baby’s karyotype
• if results positive, parents may consider ToP

Question 13

What are the features of Down’s in the neonate?

Answer 13

• hypotonia
• face →
  
  • small mouth, protruding tongue
  • small ears
  • epicanthic folds
  • brushfield spots (on iris)
• single palmar crease
• wide ‘sandal’ gap between first and second toe
• congenital heart disease affects 40% eg. ASD, VSD, ToF
• bowel → duodenal atresia + imperforate anus
• airway → enlarged tonsils, adenoids + glossoptosis may obstruct airway

Question 14

What are the features of Down’s in the older child?

Answer 14

• delayed milestones
• moderate-severe learning difficulties
• average IQ is 60
• small stature
• 18% autistic
• glue ear + obstructive sleep apnoea
• cataracts, squints + myopia
• epilepsy
• leukaemia more common
• in adults → alzheimer’s

Question 15

What are other system complications/associations of Down’s syndrome?

Answer 15

• CVS → AVSDs + other structural heart defects
• Resp → recurrent RTIs esp otitis media, have enlarged tonsils + small upper airways ⇒ obstructive sleep apnoea
• GI → duodenal atresia, Hirscprung’s
• Infections → general inc susceptibility
• Autoimmune → T1DM, coeliac
• Neuro → seizure disorders, Alzeheimer’s in 40s
• Haem → leukaemia
• Endo → hypothyroidism
• Development → learning difficulties

Question 16

What is the (long-term) management of Down’s Syndrome?

Answer 16

• education for parents + support (DS association)
• written information
• after delivery, certain tests should be performed:
  
  • ECHO → cardiac anomalies, AVSD being most common
  • FBC → assess for neonatal polycythaemia
  • TFTs
• a referral to SALT can help parents w/ initial feeding difficulties + later if there is speech delay

Question 17

What is developmental delay?

Answer 17

• delay in acquisition of particular skills ie. gross and fine motor, vision, speech + language, social, emotional and behavioural
• the child fails to reach specific milestones by the normal age
• the term global delevelopmental delay indicates two or more areas that are delayed

Question 18

What are the warning signs of developmental delay?

Answer 18

Question 19

What are the causes of developmental delay?

Answer 19

• Neurological
  
  • congenital → embryological disorders of brain development
  • acquired (static) → hypoxic ischaemic encephalopathy, intraventricular bleeds, prolonged hypoxia or hypoglycaemia
  • acquired (progressive) → brain tumours
• Infection
  
  • congenital → TORCH (toxoplasmosis, other, rubella, CMV, herpes)
  • acquired → meningitis, herpes encephalitis
• Neuromuscular → Duchenne Muscular dystrophy
• Genetic → Down’s Syndrome

Question 20

Following observation of the child throughout the assessment, it is important to also ask the parents what the child can do and get the child to complete tasks to assess all the fields of development.

What investigations can be done for developmental delay?

Answer 20

• FBC + haematinics → iron def, folate/B12 def can cause developemental delay + learning difficulties
• U+Es → renal failure + hyponatraemia can cause poor growth
• creatinine kinase → early detection of Duchenne Muscular dystrophy
• TFTs → hypothyroidism is a well documented cause of development + intellectual delay
• LFTs → underlying metabolic disorder
• bone profile (+ Vit D) → can cause motor delay
• hearing test → speech + language delay may be as a result of a hearing defect, but genetic disorders w/ global delay may also involve conductive or sensorineural hearing loss

Question 21

What is the management of a child with development problems and disabilities?

Answer 21

• referral to MDT CDC (children development centre) → key paeditrician, physio, OT, SALT, clinical psychologist, specialist health visitor, dietician, social worker
• multiagency support → health, social services, education, volunteers, voluntary agencies, parent support groups
• provide support until school-leaving age
• emphasis on needs in community
• often nominated key worker for child; help parents get info + services for child → benefits, mobility, housing, respite care, voluntary support agencies, day nursery placements
• specialist neurodisability services → rehab, surgery, gait analysis, comm aids
• schooling → encouraged where possible to integrate into normal education system, if needs severe then specialist educational placement

Question 22

What is a febrile convulsion?

Answer 22

• occur in febrile (≥38.3^oC) children between 6 months and 5 years old
• who do not have an intracranial infection, metabolic disturbance or history of afebrile seizures
• first occurrence is usually before 3 years of age, but infrequent in children younger than 6 months
• most are simple, 20-30% are complex

Question 23

What are the features of an actual febrile convulsion?

Answer 23

• usually accompanied by a high temp
• soon after w/ loss of consciousness
• generalised tonic-clonic seizure lasting <15 mins (usually less than 5)
• consciousness recovered quickly, within 30 mins
• no sequelae
• less commonly, some seizures are prolonged, focal or multiple + recovery of consciousness is delayed
• normal postictal neuro examination

Question 24

What is the aetiology of febrile convulsions?

Answer 24

• genetic → familial predisposition exists
• infection → viral infections most common*, bacteraemia an infrequent cause

*influenza A, parainfluenza, HHV-6, adenovirus, CMV, herpes simplex, RSV

Question 25

Diagnosis of febrile convulsion is clinical and as such, no specific investigations are needed. Initial investigations to rule out hypoglycaemia or UTIs in infants should be taken as general precautions.

How likely are these children to have another febrile fit and/or develop epilepsy?

Answer 25

• febrile seizures are NOT the same as epilepsy
• risk of epilepsy developing later is low but slightly higher than the general population (risk goes from 1% to 2%)
• short-lasting seizures are not harmful to children
• about 1 in 3 children will have another febrile seizure

Question 26

The management of febrile convulsions mainly involves educating the parents. What advice can be given to parents on what to do if another seizure occurs?

Answer 26

• protect them from injury during seizure
• not restrain them or put anything in their mouth
• check airway + place them in recovery position when the seizure stops
• explain that child may be sleepy for up to an hour after the seizure
• seek medical advice if a seizure lasts for <5mins, or call an ambulance if the seizure continues >5mins
• reducing fever does not prevent recurrence

Question 27

When should admission be considered in regards to febrile convulsions?

Answer 27

If any of the following:

• first febrile seizure
• seizure > 15 mins
• focal seizure
• seizure recurring within the same febrile illness within 24hrs
• incomplete recovery after 1 hour
• child <18 months
• suspected serious cause of infection
• no apparent focus of infection

Question 28

What is cerebral palsy?

Answer 28

• umbrella term referring to fixed neurological disorders primarily affecting motor movement + posture
• incidence 2.5 in 1000
• caused by non-progressive injury in the developing brain in first two years of life
  
  • after 2 years, any new insult is termed “acquired brain injury”
• CP frequently accompanied by changes in sensation, communication, behaviour, perception + cognition
• may also be linked to seizures and MSK difficulties

Question 29

Cerebral palsy can be classified into three broad categories. However, in 30% of patients there is no known risk factor or identifiable aetiology. Risk factors for CP may be divided into antenatal, perinatal and postnatal.

Antenatal factors are the most common (80%), which result in abnormal brain development - what are these?

Answer 29

• prematurity
• multiple births
• maternal illnesses ⇒ thyroid disease, iodine def, TORCH (toxoplasmosis, rubella, CMV, herpes simplex) infections, thrombotic disorders incl Factor V Leiden mutations, chorioamnionitis
• teratogen exposure
• genetic + metabolic disorders
• foetal brain malformations
• vascular accidents + thrombosis/emboli

Question 30

What are the perinatal factors that can cause cerebral palsy?

Answer 30

Birth asphyxia (hypoxic-ischaemic injury) (<10%) due to :

• instrumental delivery
• non-vertex presentation
• birth trauma
• placental abruption
• rupture of uterus or porlonged/obstructed labour
• postmaturity

Question 31

What are the postnatal risk factors for cerebral palsy?

Answer 31

• hyperbilirubinaemia
• neonatal sepsis
• respiratory distress
• early onset meningitis
• intraventricular haemorrhage
• head injury prior to 3 years (incl child abuse + shaken baby syndrome)

Question 32

There are 3 main clinical subtypes of cerebral palsy.

What are the features of spastic cerebral palsy?

Answer 32

• results from upper motor neurone injury + manifests w/ classic signs of UMN injury, including:
  
  • muscle weakness (particularly antigravity muscles eg. dorsiflexion of the feet)
  • increased muscle tone
  • brisk tendon reflex
  • sustained clonus

Question 33

What are the features of extrapyramidal cerebral palsy?

Answer 33

• arises in response to damage to the extra-pyramidal structures in the brain (particularly the basal ganglia)
  
  • UMN signs = absent
• infants are initially hypotonic w/ poor head control, but show increased tone + dyskinetic movements as they develop, these include:
  
  • dystonia → involuntary, sustained contractions of opposing muscle groups
  • athetosis → slow, involuntary, writhing movements
  • chorea → brief, irregular movements that are non-repetitive/rhythmic
• oropharyngeal muscles are affected leading to speech + feeding problems
• seizures are uncommon and intellect is usually preserved

Question 34

What are the features of ataxic cerebral palsy?

Answer 34

• due to damage to the cerebellum
• symptoms include:
  
  • hypotonia
  • intention tremor
  • poor coordination (eg. dysdiadochokinesia)
  • broad-based unsteady gait
  • delayed motor development

Question 35

What are the associated problems of cerebral palsy?

Answer 35

• 60% learning difficulties
• 40% epilepsy
• 30% squints
• 20% visual impairment
• speech + language disorders
• feeding difficulties with oromotor incoordination, gagging + vomiting
• behavioural problems

Question 36

Diagnosis is largely clinical for cerebral palsy, but what investigations can be done?

Answer 36

• every child w/ an equivocal diagnosis of CP should have an MRI brain → shows periventricular leukomalacia, congenital malformation, stroke or haemorrhage, cystic lesions

Question 37

What is the non-pharmacological treatment of CP?

Answer 37

• nutrition → NG tube or PEG feeding for those at risk of malnutrition + faltering growth
• SALT → promotes use of language + improves swallowing
• OT + physio → promote mobility + physical activity
• adaptive + communicative equipment → walkers, poles, frames, braces, wheelchairs
• education → children may require special needs education
• psychologist/counsellor → address emotional needs of child/family

Question 38

What is the pharmacological treatment of cerebral palsy?

Answer 38

• anti-muscarinics → prevent drooling
• anti-reflux → reflux commonly seen in conjunction w/ CP
• bisphosphonates → prevent osteoporosis
• anti-spasmodics → help relieve spasticity
• reserpine → vesicular monoamine transporter blocker affecting NT levels, useful for hyperkinetic movements (eg. chorea/athetosis)

Question 39

What is the surgical management of CP?

Answer 39

• release joint contractures (eg. achilles tendon)
• reduce muscle spasms (eg. around hip girdle)
• correct bony abnormalities (eg. scoliosis)

Complex procedures may be considered to relieve muscle tightness, improve posture + ability to stand, sit and walk (eg. selective posterior rhizotomy where nerves are selectively severed to decrease contractures)