Williams Syndrome

Question 1

what is the genenetic cause of WS?

Answer 1

a genetic deltetion in usually 28 genes as a result of a genetic mutation

Question 2

What is an example of one of the genes missing in WS

Answer 2

the first elastin gene: which is important for elasticity in our connective tissues, and it not functioning has been linked o deficis in aspects of brain development and cognition and spatial impairments.

Question 3

what is the facial dysmorphology involved in WS?

Answer 3

wide smile
open mouth
depressed nasal bridge with broad nasal tip
broad forhead
flattened midface
extremely common oral / dental problems

Question 4

what are the specific medical issues in WS

Answer 4

extreme infant colic
feeding difficulties
failue to thrive as a newborn
hypercalcemia
cardiovascular abnormalities

Question 5

What are the relative strengths in WS cognitive phenotype

Answer 5

Face perception
Language
Social skills

Question 6

Explain Morris and Mervis (2000) study in IQ in WS

Answer 6

tested 306 children on standard IQ test
found the average IQ to be in the top range for mild intellectual disability
range from 112-40
Distribution follows the same shape and variability as the normal population but is depressed by two SD.

Question 7

Explain Rhodes et al (2011) study on verbal and spatial working memory

Answer 7

WS individuals and two control groups one matched for verbal ability and one matched for spatial
given four tasks 1) basic verbal and spatal then 2) EF verbal and spatial
WS individuals consistently scored worse showing impairments in memory
there was no significant difference between the spatial group and the WSgroup meaning this is not entirely due to impairments in this area.

Question 8

Explain Carney et al (2013) study of EF

Answer 8

examined wherer spatial deficits were evident in EF tasks.
administered verbal and visuospatial tasks to WS, DS and TD groups
WS had significantly lower scores than controls specifically in visual and spatial tasks.

Question 9

Explain Constanzo et al (2013) study on EF in WS

Answer 9

15 WS and 16 mental age mached TD given a battery of tasks to assess EF
lots of significant differences between each of the conditions for specific meusres
WS show differences in attention STM and WM and caagorising and shifting
In planning WS were significantly worse than DS groups.

Question 10

Explain Miezah et al (2020) study on cognitive abilities

Answer 10

used a comprehensive neuropsychological test battery to investigate cognitive abilities in 49 WS individuals
Findings support previous research with strengths in auditory processing nad phonemic areaness
weakest performance was in processing speed, attention, delayed associative learning and EF capabilities
they also found chronological age did not rate significantly to any cognitive abilities

Question 11

What is WS individuals language presentation like?

Answer 11

they show atypical development of language
Previous reserch has shown WS individuals to have strong language abilities despite a range of deificis in other areas

Question 12

Explain Marvis and Becerras (2007) findings about language in WS

Answer 12

Although langauge can appear intact in many tests research has shown differences in areas of functioning.
- Concrete vocabulary is usually at a higher level
- RElational / conceptual vocabulary is at a lower level
Their studies also found language abities and cognitive abilities to be strongly related (contry to previous beliefs). meaning for example verbal WM is considerably more important for WS compared to TD.

Question 13

WHy is Marvis and Becerra (2007) important for language interventions

Answer 13

It shows individuals would benefit from language therapy especially even though they may not make grammatical errors they still have issues with language pragmatics and therefore would benefit from help.

Question 14

Describe the language profile in individuals with WS

Answer 14

relative strength in concrete vocabulary
grammatical abilities at the same level as intellectual ability
considerable weaknesses in both rational / conceptual language and pragmatics
(Mervis & John. 2010)

Question 15

explain the characteristics of visual spatial processing in WS

Answer 15

WS individuals have a bias for ‘local’ rather than global detail (Wang and Bellugi, 1993)
They have difficulty shifting salent details to the global shape.
It explains strengths in areas such as face idenfiticaiton while identifying isees with broader abstract thinking ideas.
Can guide instructional strategies

Question 16

explain Hsu and LV (2022) study on emotion processing in WS

Answer 16

Participants were given scenarios and asked which emotion was most relevant.
REsults show deleted and deviant responses
WS showed delayed response to anger and surprise emotions
however the rest were the same as TD

Question 17

Explain the issue of WS and anxiety

Answer 17

WS individuals have high rates of anxiety (48%)
which is a lot higher than both an impred population and an average population

Question 18

Explain the overall social phenotype of WS

Answer 18

characterised by hyperociabiity and a lack of social awareness.
they have a strong interest in faces and people although can lack awareness in things like personal space
these traits can cause peer difficulties, social isolation and potential social vulnerability

Question 19

explain Rilby and Hancock (2008) study on sociability of WS

Answer 19

looked at eyetracking and found WS individuals nearly always fixated on individuals eyes, showing a higher tendency for prolonged face fixations though there is individuals variability

Question 20

Explain Laugh et al (2016) study on stranger danger in WS

Answer 20

Qualitative study of parents
Parents reported children having a lack of understanding about what an appropriate and safe distance of boundires are,
strong interest in people can cause issues in terms of teaching about straner danger

Question 21

Explain Rilby et al (2014) study on stranger danger

Answer 21

WS and a verbal IQ about stranger danger TD group watched video extracts of strangers interacting with young children and were then asked questions about it
WS children gave less appropriate answers showing a lack of awareness

Question 22

Explain the interventions of WS

Answer 22

Mervis and John (2010) provide an overview:
- Socal skills training
- language interventions
- reading interventions
(multidisciplinary team)

Question 23

WHat did Mervis and John (2010) find about academic interventions

Answer 23

children who are taught in a more holistic way read at below wat is expected for IQ compared to children who are taught to read using a systematic phonics approach