2 Cerebral palsy + neurodevelopmental disorders Flashcards
Palsy?
muscle weakness/paralysis
Bell’s palsy?
shaking?
bulbar?
face.
parkinsons.
difficulty swallowing/talking.
cerebral palsy?
most common movement disorder in children, 1:500 births.
what are the 4 types of CP?
what determines type?
spastic, dyskinetic, ataxic, hypotonic.
site of injury
aetiology of CP?
brain injury/development disorder.
not genetic, but increases risk
what % of CP is congenital?
90%
risk factors for CP?
O2 deprivation during birth.
pre-term.
genes
twin births
low socioeconomic
low birth weight
maternal infection
perinatal stroke
pathophysiology of CP?
white matter injury, hypomyelination
what damage causes spastic CP? what does it cause?
white matter in motor cortex.
hypertonia -stiffness.
3 types of hypertonia?
di (legs), hemi (1 side), quadra (all)… plegia.
what other problems does spastic CP cause?
problems swallowing, speaking, vision problems.
characteristic of diplegia?
scissoring gait.
what damage causes dyskinetic CP?
what does it cause?
basal ganglia - regions involved in motor func.
athetosis - slow writhing.
chorea - hyperkinetic, irregular, invol.
dystonia - repetitive + twisted, abnormal postures.
what damage causes ataxic CP?
what main problem does it cause?
damage to cerebellum.
coordination + balance.
other problems of ataxic cp?
intellectual disability (caused by injury that caused CP).
seizures.
bone/joint - arthritis, fragile, curved spine.
chronic prain - bone/joints, GI tract, contractures.
treatment for CP?
no cure
physiotherapy, speech therapy, assistive tech, muscle relaxants, surgery, pain relief, anticonvulsants.
prevention for CP?
traumatic birth/hypoxia.
hypothermia treatment.
not applicable to pre-term.
what are 3 genetic neurodevelopmental disorders that affect development of NS?
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.
what are characteristic of WS?
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.
what does AS involve?
imprinting - chr from mum/dad can be silenced which affects gene you get from other.
characteristics of AS?
appearance
seizures
ataxia
learning difficulties.
uncontrollable laughter
brain regions affected = hippocampus (cog), cortex + cerebellum (motor).
How is PW syndrome caused?
UBE3A gene - imprinting happens on maternal chr - normal has maternal version off, paternal on.
characteristics of PW?
appearance
mild cog deficits
spoken language poor, reading + comprehension better.
good visual organisation
insatiable appetite
underdevelopment of basal ganglia, amygdala, hippocampus, hypothalamus, cerebellum.
how does PW syndrome affect hypothalamus?
MAGL2 knocked out –> excess body fat.
