neurodevelopmental disorders

Question 1

sporadic

Answer 1

among scattered cases

Question 2

monogenetic

Answer 2

related to 1 gene

Question 3

oligogenegic

Answer 3

related to several genes

Question 4

polygenetic

Answer 4

related to many genes

Question 5

idiopathic

Answer 5

a disease in and of itself

Question 6

pedigree

Answer 6

a family tree

Question 7

kindred

Answer 7

a family

Question 8

perinatal

Answer 8

around birth

Question 9

congenital

Answer 9

existing from birth

Question 10

hereditary

Answer 10

running in a family

Question 11

epigenetic

Answer 11

non-sequence effects on DNA

Question 12

neural tube in adulthood

Answer 12

• outgrown by skeleton, cord ends at L1
• preserved as central grey of cord and peri aqueduct as grey of midbrain
• most elaborated in the hemispheres

Question 13

features of neurofibromatosis type 1

Answer 13

• ectoderm effects (dermatology, neurofibromata, café-au-lait spots, axillary freckling)
• neural tube effects (glial cell tumours can lead to learning disability)
• neural crest effects (shwannomas, adrenal medullary tumours)

Question 14

spina bifida occulta

Answer 14

• least serious and most common
• usually is covered only on x-rays
• most people never become aware of condition

Question 15

meningocele (spina bifida)

Answer 15

• meninges pass back through the opening in the spine to form a cyst-like swelling

Question 16

myelomeningocele (spina bifida)

Answer 16

-spinal cord is enclosed in the cyst
- most serious type

Question 17

clinical issues of spina bifida

Answer 17

• loss of neural function (parapalegia/paraparesis)
• structural effects (hydrocephalus, CNS infection)

Question 18

effects of lost neural function

Answer 18

• limb deformity
• risk of urine infection
• complications of hydrocephalus
• complications of immobility
• obstetric complications

Question 19

effects on/of the skull

Answer 19

• brain and cranial development interlinked
• normally growing brains cause head to grow
• relatively mild abnormalities of the skull base (chiari malformation) may cause altered flow of CSF

Question 20

chiari malformation

Answer 20

structural defect in the cerebellum characterised by a downward displacement of the cerebellum through the foremen magnum

Question 21

what could go wrong in utero/being born?

Answer 21

• hypoxia (hypoxia ischaemic encephalopathy)
• physical injury
• infection (e.g. rubella)
• toxins (including ‘teratogenic’ drugs)

Question 22

missed milestones requiring intervention at 2 months

Answer 22

• lack of visual fixation
• no social smile

Question 23

missed milestones requiring intervention at 4-6 months

Answer 23

• fails to track person or object
• no steady head control
• no response/turn to sound or voice

Question 24

missed milestones requiring intervention at 6 months

Answer 24

decease/absence of vocalizations

Question 25

missed milestones requiring intervention at 9-12 months

Answer 25

• fails to sit independently

Question 26

missed milestones requiring intervention at 18 months

Answer 26

• fails to walk independently
• does not seek shared attention to object/event with caregiver

Question 27

missed milestones requiring intervention at 24 months

Answer 27

• no single words

Question 28

missed milestones requiring intervention at 36 months

Answer 28

• no three word sentences
• cannot follow simple commands

Question 29

missed milestones requiring intervention > 3 years

Answer 29

• speech unintelligible
• dependence on gestures to follow commands

Question 30

cerebral palsy

Answer 30

group of permanent disorders of the development of movement

Question 31

what may cerebral palsy affect

Answer 31

• posture
• limb movement
• speech

Question 32

strabismus

Answer 32

medical squinting

Question 33

syndromic strabismus

Answer 33

additional features, several known genes

Question 34

duane’s syndrome

Answer 34

• CNVI doesn’t develop (abducen’s)
• rare form of strabismus where there is an inability of the eye to move outward