2 Cerebral palsy + neurodevelopmental disorders

Question 1

Palsy?

Answer 1

muscle weakness/paralysis

Question 2

Bell’s palsy?
shaking?
bulbar?

Answer 2

face.
parkinsons.
difficulty swallowing/talking.

Question 3

cerebral palsy?

Answer 3

most common movement disorder in children, 1:500 births.

Question 4

what are the 4 types of CP?
what determines type?

Answer 4

spastic, dyskinetic, ataxic, hypotonic.
site of injury

Question 5

aetiology of CP?

Answer 5

brain injury/development disorder.
not genetic, but increases risk

Question 6

what % of CP is congenital?

Answer 6

90%

Question 7

risk factors for CP?

Answer 7

O2 deprivation during birth.
pre-term.
genes
twin births
low socioeconomic
low birth weight
maternal infection
perinatal stroke

Question 8

pathophysiology of CP?

Answer 8

white matter injury, hypomyelination

Question 9

what damage causes spastic CP? what does it cause?

Answer 9

white matter in motor cortex.
hypertonia -stiffness.

Question 10

3 types of hypertonia?

Answer 10

di (legs), hemi (1 side), quadra (all)… plegia.

Question 11

what other problems does spastic CP cause?

Answer 11

problems swallowing, speaking, vision problems.

Question 12

characteristic of diplegia?

Answer 12

scissoring gait.

Question 13

what damage causes dyskinetic CP?
what does it cause?

Answer 13

basal ganglia - regions involved in motor func.
athetosis - slow writhing.
chorea - hyperkinetic, irregular, invol.
dystonia - repetitive + twisted, abnormal postures.

Question 14

what damage causes ataxic CP?
what main problem does it cause?

Answer 14

damage to cerebellum.
coordination + balance.

Question 15

other problems of ataxic cp?

Answer 15

intellectual disability (caused by injury that caused CP).
seizures.
bone/joint - arthritis, fragile, curved spine.
chronic prain - bone/joints, GI tract, contractures.

Question 16

treatment for CP?

Answer 16

no cure
physiotherapy, speech therapy, assistive tech, muscle relaxants, surgery, pain relief, anticonvulsants.

Question 17

prevention for CP?

Answer 17

traumatic birth/hypoxia.
hypothermia treatment.
not applicable to pre-term.

Question 18

what are 3 genetic neurodevelopmental disorders that affect development of NS?

Answer 18

williams syndrome - deletion of 27 genes on chr 7.
angelman - delete UBE3A gene, maternal chr 15.
prader-willi - delete cluster of genes, paternal chr 15.

Question 19

what are characteristic of WS?

Answer 19

characteristic appearance
abnormalities in frontal cortex, cerebellum - motor.
abnormalities in parietal cortex - visual/spatial.
“cocktail party personality” - no fear of social.
exaggerated fear response - diff in size + response of amygdala.

Question 20

what does AS involve?

Answer 20

imprinting - chr from mum/dad can be silenced which affects gene you get from other.

Question 21

characteristics of AS?

Answer 21

appearance
seizures
ataxia
learning difficulties.
uncontrollable laughter
brain regions affected = hippocampus (cog), cortex + cerebellum (motor).

Question 22

How is PW syndrome caused?

Answer 22

UBE3A gene - imprinting happens on maternal chr - normal has maternal version off, paternal on.

Question 23

characteristics of PW?

Answer 23

appearance
mild cog deficits
spoken language poor, reading + comprehension better.
good visual organisation
insatiable appetite
underdevelopment of basal ganglia, amygdala, hippocampus, hypothalamus, cerebellum.

Question 24

how does PW syndrome affect hypothalamus?

Answer 24

MAGL2 knocked out –> excess body fat.

Question 25

what causes obesity in lab retrievers?

Answer 25

variant of POMC