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William's Flashcards

1
Q

William’s Syndrome is caused by

A

Deletion of 26-28 genes on Chromosome 7

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2
Q

Stromme et al., (2002)

Prevalence of William’s?

A

1 in 7,500

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3
Q

What are the ‘distinct facial features’ found in WS?

A

Elfin like features –> broad brow, flat nasal bridge, wide mouth etc

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4
Q

What health complications might be found in WS? (2)

A

Cardiovascular disorders

Kidney/bladder issues

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5
Q

Bullugi, Klima & Wang (1996)

WS children possess mild to moderate…

A

Intellectual deficits

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6
Q

Bullugi, Klima & Wang (1996)

The intellectual deficits found in WS are _____ to _____

A

Mild to moderate

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7
Q

How is WS diagnosed?

A

Genetic Diagnosis (FISH)

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8
Q

What does FISH stand for?

A

Fluorescent in Situ Hybridisation

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9
Q

Lowery et al., (1996)

In WS, one copy of the elastin gene is deleted in over ____ of patients

A

96%

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10
Q

Which NDD has ‘elfin-like’ features?

A

WS

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11
Q

Which brain imaging technique is generally used to detect abnormalities in WS?

A

MRI

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12
Q

What are the main structural differences in WS brains?

A

Total brain + occipital grey matter volumes significantly reduced
Ventral prefrontal cortex & amygdala grey matter significantly enlarged

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13
Q

Martens, Wilson + Reutens (2008)

What are the differences in terms of the cerebrum/cerebellum in WS?

A
  1. Reduction in cerebral volume

2. Preservation of cerebellar volume

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14
Q

WS

How is the amygdala different?

A

Increase in volume

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15
Q

WS

Grey matter volume in PREFRONTAL cortex?

A

Increase in volume

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16
Q

Levitin et al., (2003)

Musical stimuli resulted in widespread…. activation

A

Cortical + subcortical, amygdala

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17
Q

Martens, Wilson + Reutens (2008)

How does the brain of a WS patient respond to seeing threatening scenes?

A

Increased amygdala activation

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18
Q

Martens, Wilson + Reutens (2008)

How does the brain of a WS patient respond to seeing unfamiliar/threatening faces?

A

Reduced amygdalar activation

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19
Q

Martens, Wilson + Reutens (2008)

“Thus they proposed this abnormal circuity may underlie the HYPERSOCIABLE and ANXIOUS characteristics of many individuals with WS”

What abnormal circuitry is this referring to?

A
  1. Increased amygdalar activation (threatening scenes)

2. Reduced amygdalar activation (threatening faces)

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20
Q

Bellugi et al., (1999)

In WS, Mean IQ is between ____, with a range of ______

A

50 + 60

40-100

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21
Q

Martens, Wilson + Reutens (2008)

Is IQ stable or unstable over time?

A

Stable

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22
Q

Martens, Wilson + Reutens (2008)

Which is strongest for WS, verbal IQ or performance IQ?

A

Verbal IQ

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23
Q

3 strengths (cognitive) of WS?

A
  1. Language
  2. Face processing
  3. Musical ability
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24
Q

3 language strengths of WS?

A
  1. Speech production
  2. Receptive vocab
  3. Grammatical abilities
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25
Bellugi et al., (1990) Found that WS children's _______ exceeded their mental age, as well as that of age-matched controls
Receptive vocab
26
2 Language WEAKNESSES in WS?
1. Pragmatics | 2. Reciprocal conversation
27
Laing et al., (2002) Compared to mental age-matched controls....
Toddlers with WS use fewer gesturing skills
28
Why might difficulty with pragmatics hinder somebody with WS?
They may take metaphors/sarcasm at face value, missing out on important convo
29
Four general cognitive WEAKNESSES of WS?
1. Visuospatial abilities 2. Attention 3. EF 4. Fear
30
Farron + Iarrold (2003) Found that WS's struggle with visuospatial tasks such as.. (2)
Block Design task or Pattern Construction
31
Bihrle et al., (1989) Children/adults have a deficit in processing the ______
Global aspects of visuospatial stimuli
32
Hoffman et al., (2003) The WS deficit in global processing...
May reflect deficits in planning + execution of motor responses
33
Cornish et al., (2007) Found that WS have problems with ______ and ________
Attentional control Visual orienting
34
Cornish et al., (2007) Children with WS display poor performance on _____ task and ______ task
Anti-saccade Orientating
35
Anti-saccade tasks tap into...
Voluntary control of gaze
36
Mervis (2003) Posed that attentional difficulties pose problems with interactions with peopole, if there is a
Greater degree of distractibility
37
Rhodes et al., (2010) Which task can assess EF PLANNING?
Tower of Hanoi
38
Rhodes et al., (2010) Found WS children have difficulties with (3)
Planning (frontal lobe) WM (frontal lobe) Attention (frontal lobe)
39
COMORBIDITY of WS (3)
1. ADHD 2. Specific phobia 3. GAD
40
65% of WS children also have
ADHD
41
54% of WS children have a specific phobia, resulting from....
Enlargement of grey matter in amygdala/prefrontal cortex
42
WS children have enlargement of grey matter in amygdala/prefrontal cortex. This affects
Risk/fear processing
43
Differences in WHERE affects risk/fear processing?
Amygdala/prefrontal cortex
44
Example of a specific fear seen in WS?
Getting lost (spatial navigation difficulties?)
45
Jones et al., (2000) Found that WS patients are unusually....
Sociable, friendly and empathetic
46
Riby et al., (2014) WS individuals show little restraint towards...
Unfamiliar people
47
WS children are more anxious, ______ and ______
Distractible | Hyperactive
48
Gosch + Pankau (1997) As WS individuals reach adulthood, they are...
More reserved/less active, but still more extroverted than NT controls
49
Bellugi (1999) Adults with WS rated unfamiliar faces...
Significantly more approachable than NT controls
50
What is the main behavioural phenotype for WS?
Hypersociability
51
WS children have a clear, innate affinity with
Music
52
Lehnoff et al., 2001 WS children have...
Perfect pitch
53
Levitin + Bellugi, 1998
WS children's rhythmic production abilities may be similar to musically trained children
54
How are WS children DIFFERENT to autistic children?
WS are hypersociable and have strengths in language
55
How are Autistic children SIMILAR to WS? (3)
Distractibility Inflexibility Pragmatic deficits
56
Martens, Wilson + Reutens (2008) ________ deficits confirmed across a large body of studies
Visuospatial deficits
57
Difference between WS and FXS?
FXS tend to be socially withdrawn/have poor social eye gaze
58
WS is caused by the deletion of ____ on _______
26-28 genes | Chromosome 7
59
WS is caused by _________ on Chromosome 7
The deletion of 26-28 genes
60
Aortic stenosis is
Narrowing of arteries to the heart
61
Aortic _______ is associated with WS
Stenosis
62
Despite a reduction in overall brain volume in WS, which areas are significantly increased?
Amygdala | Ventral prefrontal grey matter
63
Reiss et al., 2004 found....(2)
1. Reduction in overall grey matter/occipital cortex | 2. Increase in amygdalr/prefrontal grey matter
64
Martens, Wilson & Reutens found that in WS, IQ ________ time
Is stable over
65
One example of a grammatical ability?
Understanding syntax
66
Farran & Jarrold (2003) --> investigated visuospatial abilities in WS by administering...
Pattern construction task | Block design task
67
Anti-saccade tasks require...
Considerable voluntary eye-movement control
68
Cornish et al., (2007) (WS) What were the results of the anti-saccade task?
Problems with attention disengagement
69
Cornish et al., 2007 (WS) What were the results of the orienting task?
Greater interference effects of invalid cues --> problems with attentional disengagement and visual orienting
70
Cornish et al., (2007) Suggested that as age increases,
Distractibility may also increase
71
Martens et al., (2008) found that WS children have a really clear talent for
Music
72
Don et al., 1999 __% of the sample were either indifferent or displayed an intense dislike to
15% Music
73
Bellugi et al., 1999
IQ between 50-60, with a range of 40-100
74
Bellugi et al., 1990
Found WS children have a receptive vocab that exceeds mental age/age-matched controls
75
Martens et al., (2008) concurred that _______ consistute a cognitive weakness in WS
Visuospatial abilities
76
Jones et al., 2000
WS are unusually sociable, friendly and empathetic
77
____% of WS children have a specific phobia
54%
78
Bellugi et al., 1999 found that adults with WS...
Rated unfamiliar faces as significantly more approachable than NT controls
79
Martens et al., 2008 Speech & Language in WS
WS children show speech & language delays
80
Krasneger, 1991
Expressive lang is often elaborate and gramatically correct
81
Martens et al., 2008 Language DEFICITS were found in
Pragmatics Reciprocal convo. Complex language skills
82
"The visuospatial deficit in WS may reflect a deficit in planning & execution of motor responses" who said this?
Hoffman et al., 2003
83
Martens et al., (2008) Evidence of a _______ that is distinguishable from....
Hypersociability phenotype | General friendliness
84
Don et al., (1999) Music & WS
15% of sample were either indifferent or displayed an intense dislike to music
85
Heal & Sigelman (1995) Why might researchers be wary using self-report methods with WS?
Sociable personality may result in response bias
86
Which studies provides evidence of impaired executive function in WS?
Rhodes et al., 2010
87
Rhodes et al., 2010 What were the non-executive deficits found?
STM and memory span
88
WS exhibit a distinct profile of proficient _________ and severe __________
Verbal skills | Severe visuospatial processing impairment

NDDs/Stroke (9 decks)

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