Williams Syndrome

Question 0

A gene is a specific _____ of ___ in DNA or RNA that is usually located on a ______. A gene is the functional unit of ______ controlling the transmission and expression of one or more ____.

Answer 0

A gene is a specific sequence of nucleotides in DNA or RNA that is located usually on a chromosome and that is the functional unit of inheritance controlling the transmission and expression of one or more traits.

Question 1

There are _____ cells in the human body. Inside each human cell is a ____ (except red blood cells), each nucleus contains 46 _____, arranged in 23 pairs. The chromosomes contain tightly coiled strands of ___. Sections of DNA that contain the code for making proteins are called ____.

Answer 1

There are 100 cells in the human body. Inside each human cell is a nucleus (except red blood cells), each nucleus contains 46 chromosomes, arranged in 23 pairs. The chromosomes contain tightly coiled strands of DNA. Sections of DNA that contain the code for making proteins are called genes.

Question 2

The Genome is the ____ ____ of _____ in the ______.

Answer 2

The genome is the complete set of genes in the organism

Question 3

Genotype is the….

Answer 3

genetic make-up of the individual

Question 4

Phenotype is the….

Answer 4

expression of the gene (which can be physical, behavioral, or cognitive)

Question 5

Velo-Cardio-Facial Syndrome (VCFS) is caused by a _____ on chromosome ___ and occurs in at least 1 in ___ births. It increases the risk of ____ by ____.

Answer 5

Velo-Cardio-Facial Syndrome (VCFS) is caused by a microdeletion on chromosome 22 and occurs in at least 1 in 5000 births. It increases the risk of schizophrenia by 25x.

Question 6

Turner’s syndrome (TS) results from partial or complete ______. It affects up to 1 in ____ females.

Answer 6

X-monosomy (i.e. females only have 1 X chromosome). 1 in 2000 females.

Question 7

Turner’s syndrome is not associated with ___ ____, but there is an increased risk of ____ _____ in this population. Disruptions can occur in ___ and ____ ___, as well as ____ ____.

Answer 7

Turner’s syndrome is not associated with mental retardation, but there is an increased risk of learning difficulties in this population. Disruptions can occur in mathematical and visuospatial skills, as well as social behavior.

Question 8

Physical features of Turner’s syndrome include:

Answer 8

Short stature, infertile, no menstruation, abnormal shaped chest, low hairline

Question 9

Women with Turner’s syndrome show reduced activity in the _____ cortex during _____ processing

Answer 9

Women with Turner’s syndrome show reduced activity in the parietal cortex during visuospatial processing

Question 10

Women with turner’s syndrome have poorer math ability, which is associated with reduced activity in the ____ ___ and reduced size of the ____ _____ ____.

Answer 10

Women with Turner’s syndrome have poorer math ability, which is associated with reduced activity in the parietal cortex and reduced size of the right intraparietal sulcus (IPS).

Question 11

Fragile X syndrome is associated with the expansion of the ____ repeat affecting the _________ gene on the X chromosome, resulting in a failure to express the _________, which is required for normal neural development.

Answer 11

Fragile X syndrome is associated with the expansion of the CGG trinucleotide repeat affecting the Fragile X mental retardation 1 (FMR1) gene on the X chromosome, resulting in a failure to express the fragile X mental retardation protein (FMRP), which is required for nomrla neural development.

Question 12

A definitive diagnosis of fragile X syndrome is made through genetic testing to determine the number of _______.

Answer 12

CGG trinucleotide repeats

Question 13

Fragile X: Depending on the length of the _____, an allele may be classified as normal (unaffected by the syndrome), a ______ (at risk of fragile X associated disorders), or a full mutation (usually affected by the syndrome).

Answer 13

CGG repeat, premutation

Question 14

Social and cognitive impairments in Fragile X include:

Answer 14

• social anxiety (hyper arousal during social interaction and a lack of eye contact)
• deficit in inhibitory control
• impairments in episodic memory

Question 15

Fragile X: the FMRP protein is expressed in neurons, with particularly high levels of gene transcription in the _______. Not surprisingly, both structural and functional abnormalities have been detected in the _____.

Answer 15

Hippocampus

Question 16

Williams syndrome occurs in one of every ____ to ____ births

Answer 16

7,500 - 20,000 births

Question 17

Williams syndrome is characterized by a deletion on chromosome __, (band _____)

Answer 17

Chromosome 7, band 7q11.23

Question 18

Deletion of chromosome 7 (band 7q11.23), which occurs in ____, removes more than __ genes that encode for different functions.

Answer 18

Williams syndrome - deletion removes more than 20 genes

Question 19

The chance a child will inherit William’s syndrome from an affected parent is ____

Answer 19

50%

Question 20

Physical symptoms of Williams syndrome include (5)

Answer 20

• Facial characteristics
• Stunted growth
• Dental abnormalities
• Premature aging
• Heart problems

Question 21

Why is William’s Syndrome interesting: Unlike ___, we know what genes are deleted. We can map genes onto the brain, ____, and ____. Therefore, we can gain an excellent understanding of the relationship between genes, brain, and _____.

Answer 21

Unlike autism, we know what genes are deleted. We can map genes onto the brain, cognition, and behavior. Therefore we can gain an excellent understanding of the relationship between genes, brain, and behavior.

Question 22

Williams Syndrome: IQs range from ____ to ____

Answer 22

48 to 85

Question 23

Besides mental retardation, people with williams syndrome may have ____ and _____.

Answer 23

Besides mental retardation, people with williams syndrome may have learning disabilities and memory loss

Question 24

Often, WS cannot live on their own and usually live in care. They also have little concept of ____, ______, or _____.

Answer 24

time, value of money, or age

Question 25

The dorsal “where” pathway runs from the ___ ____ up over the ____ ___ toward the ___ ____. This pathway is involved in ____ and _____.

Answer 25

The dorsal “where” pathway runs from the visual cortex up over the parietal cortex toward the prefrontal cortex. This pathway is involved in spatial reasoning and the guidance of actions.

Question 26

The ventral “what” pathway runs ventrally (down) from the ___ to the ____ and the ____. The pathway is involved in ____.

Answer 26

The ventral “what” pathway runs ventrally (down) from the visual cortex to the temporal lobe and the frontal cortex. The pathway is involved in object processing.

Question 27

Brain strucutre: Williams syndrome have reduced ______ and greater ______.

Answer 27

Reduced sulci depth and greater cortical thickness

Question 28

Williams Syndrome: abnormalities in the _____ such as the ____ result in deficit in spatial tasks, including drawing and mental rotation of objects.

Answer 28

abnormalities in the dorsal stream such as the parietal cortex result in deficits in spatial tasks

Question 29

Navon task (Mobbs) asks subjects to determine the ___ and __ features of a stimulus (H/S task). The Williams syndrome people had the same ____ but worse ___, and brain scan showed no activation in the _____.

Answer 29

Navon task (Mobbs) asks subjects to determine the global and local features of a stimulus (H/S task). The Williams syndrome people had the same reaction time but worse accuracy than control, and the brain scan showed no activation in the dorsal pathway.

Question 30

WS typically exhibit poor delayed memory and learning in both verbal and visuospatial memory. For example, they show poor performance where they have to remember _____ and perform below average on speeded naming tasks, suggesting they have problems with ____.

Answer 30

They show poor performance where they have to remember word lists (after a 10 or 15 second delay) and perform below average on speeded naming tasks, suggesting they have problems with retrieval.

Question 31

Meyer-Lindenberg (2005) showed that WS show significant less activity in response to ____ ____, supporting the notion that WS do not feel ____ ____.

Answer 31

fearful faces, social fear

Question 32

For Williams Syndrome, decreased activity in the ____ is associated with increased social approach to strangers.

Answer 32

amygdala

Question 33

Mobbs- along with the lack of social fear is the inability to _____ social behavior (in the go/ no go letter paradigm)

Answer 33

inhibit

Question 34

What are three relatively preserved neural and cognitive functions for William’s syndrome?

Answer 34

Language, face processing, and musical skills

Question 35

William syndrome language: Bellugi has shown that WS understand ___, ____, and _____. Thal et al reported that spontaneous language skills are similar to ______.

Answer 35

grammatical structure, tense, and enriched language ….. like late-talking children

Question 36

Mervis and Robinson found that 2 y.o WS display vocabulary that is…

Answer 36

larger than age-matched DS, but well below healthy children

Question 37

According to Capirci, WS children have fewer ____ skills

Answer 37

gesturing - a precursor to language development

Question 38

For WS, language skills are excellent compared to ______ but still ______

Answer 38

excellent compared to IQ matched subjects, but still atypical and under developed compared to healthy controls

Question 39

The fusiform gyrus is typically _______ in WS, the activity in fusiform gyrus is ____.

Answer 39

The fusiform gyrus is typically enlarged in WS but the activity is relatively normal

Question 40

For musical accomplishment, people with WS are ______ compared to healthy control

Answer 40

equal

Question 41

Compared to autism, Down’s syndrome, and healthy controls, WS people display greater….

Answer 41

emotional responses to music, interest in music at an early age, and time spent listening to music

Question 42

WS often suffer from hyperacusis, which is ______, in addition they experience ______.

Answer 42

hypersensitivity to sounds, they also experience heightened reactions to music and some noise