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Bio Basis > William's Syndrome > Flashcards

William's Syndrome Flashcards

1
Q

Williams syndrome is caused by…

A

Hemizygous deletion of 25 genes on chromosome 7

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2
Q

Deletion is caused by…

A

Unequal crossing over in the critical region during meiosis

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3
Q

Deletion results in…

A

Extra material on one chromosome and missing material on the other

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4
Q

Williams brain size is

A

Overall smaller

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5
Q

Smaller brain areas

A

Parietal and occipital

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6
Q

Corpus callousness is

A

Flatter and bent

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7
Q

The cerebellum is

A

Preserved

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8
Q

Cell density is increased in … (3) … due to a failure of …

A

Occipital regions, RH perisylvian language areas, RH STG

Myelination and pruning

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9
Q

The fusiform is… though the FFA is…

A

Smaller

Larger

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10
Q

Cortical … is increased

A

Gyrification

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11
Q

The amygdala is… leading to…

A

Larger

Decreased activation to fearful faces
Increased activation to happy faces
Increased activation to threatening scenes

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12
Q

ERP’s show

A

An atypical activation to faces

Same recognition process for both upright and inverted faces whereas TD use different processes

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13
Q

Dendrites are…
Spines are…
Leading to…
Linked to… which is linked to

A 
Longer and faster growing
More spines and more synapses 
Activity 
FZD9 gene
Neurotrophin (brain development)
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14
Q

Oxytocin is

A

Dysregulated affecting emotional responses and bonding

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15
Q

Physical phenotype

A 
Short
Turned up nose, wide mouth, puffy under eyes, Stellate eyes, small irregular teeth
Hoarse voice 
Gait ataxia
Poor muscle tone
Loose joints
Abnormal spine curvature
Hyperacusis and hypersensitivity
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16
Q

Behavioural phenotypes

A

Hypersociability and social gregariousness
Problems with joint attention
Inability to detect social danger signals leaving them vulnerable

17
Q

Cognitive weaknesses

A

Low IQ

Visuospatial skills

18
Q

Cognitive strengths

A

Language (delayed, skewed)
Face recognition and memory
Music

19
Q

Other cognitive phenotypes

A

Altered timelines

Elaborate stories

20
Q

Mental health concerns

A

Generalised and anticipatory anxiety
Depression
Panic attacks
50% have specific phobia

21
Q

Medical conditions

A 
Cardiovascular issues
Ear infection 
Gastrointestinal issues
Hypercalcemia 
ADHD
22
Q

Prevelance

A

1 in 7500

23
Q

Genetic diagnosis

A

FISH test

24
Q

Penetrance and expression

A

100% and variable

25
Q

Type of disorder

A

Autosomal

26
Q

Atypical case presents like

A

ASD

Bio Basis (10 decks)

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