NP: Chapter 22 Huntington's disease

Question 1

huntingtons disease globaal

Answer 1

progressive, heriditary and neurodegenerative disease:
motor impairments
cognitive decline
mood and behavioural changes

Question 2

wanneer beginnen de symptoms van hd

Answer 2

tussen 30-50 jaar

Question 3

soms ook in childhood hd

Answer 3

ja, juvenile huntington (maar rare)

Question 4

duration of hd

Answer 4

usually 15-20 jaar

Question 5

hd cannot be prevented, cured or delayed

Answer 5

oke

Question 6

wat is er genetically mis bij hd

Answer 6

excess repeats of CAG op chromosome 4

Question 7

hd carriers hebben …. kans to inherit the gene

Answer 7

50%

Question 7

hoeveel repeats voor severity hd

Answer 7

> 36 = healthy
36-39 = mild
< 40 = severe

Question 8

the higher the repeats bij hd…

Answer 8

the earlier the onset of hd symptoms (maar impossible to predict when..)

Question 9

diagnosis van hd is gebaseerd op

Answer 9

dna test
motor impairments aanwezigheid

Question 10

wat als er geen motor impairments zijn maar wel een positieve dna test

Answer 10

dan = pre-manifest mutation carrier

Question 11

incidence hd

Answer 11

elk jaar 60 patients

Question 12

wat doet de gen defect

Answer 12

alters the function of the huntington protein -> cells in brain are dysfunctional -> break down -> atrophy

Question 13

waar is damage bij hd

Answer 13

basal ganglia, bij de striatum vooral (caudate nucleus en putamen)

atrophy in beiden cortical en subcortical regions

Question 14

what are the prominent symptoms of hd

Answer 14

bradyphrenia (=slow info processing)
executive functions
memory
psychomotor skills

Question 15

as the disease progressis, other cognitive impairments may occur such as:

Answer 15

iq
memory
speed of info processing
attention
executive functioning
disease awareness
perception
language and speech
emotion and social cognition

Question 16

iq in hd

Answer 16

pas latere stages
vooral nonverbal tasks

Question 17

memory in hd

Answer 17

can occur in earlier stages
vooral encoding and retrieval, recognition and general factual knowledge remains the same

Question 18

speed of info procesing

Answer 18

early stage
slowness in thinking, niet alleen door psychomotor slowness

Question 19

attention and executive functions

Answer 19

early stages
difficult to plan, initiate
dividing attention
cognitive inflexibility

Question 20

disease awareness

Answer 20

lack o finsight
en misschien defence mechanisms?
of echt geen idee van hun motor impairments door physiology

Question 21

perception and spatial cognition

Answer 21

distinguishing and matching different shapes

Question 22

language and speech

Answer 22

word finding, grammar blijft meestal goed
maar vooral loudness of speech wordt minder = hypohonia
en articulatie -> dysarthria

Question 23

emotion and social cognition

Answer 23

negative emotions: anxiety and disgust
understanding emotions
social situations

Question 24

pre-manifest stage

Answer 24

onset of symptoms cannot be predicted
subtle changes in mood, cognitive functioning or deviating movements

Question 25

wat voor scale is used

Answer 25

huntingtons disease rating schale

Question 26

wat voor domains zijn tested bij die schale

Answer 26

motor control
cognition
mood
behaviour
daily functioning

Question 27

patients have limited awareness!

Answer 27

dus anosognosia, got it