9- Nature

Question 1

What 3 things have a high degree of genetic basis to them?

Answer 1

Many common physical disorders
Certain psychological conditions
Many behavioural and psychological traits

Question 2

What is the advantage of knowing where the genetic difference is?

Answer 2

We can look at the pathway from the genome through to protein development through to neurodevelopment through to development and influence on behaviour

Question 3

How much of intellectual disability does genetic syndromes account for?

Answer 3

Approximately 1/3 of all occurrences

Question 4

How many individuals in the UK had a genetic syndrome in 2008?

Answer 4

Between 350,000 and 750,000

Question 5

What is a genotype?

Answer 5

Genetic makeup

Question 6

What is a phenotype?

Answer 6

Composed of observable characteristics- physical appearance/development, influenced by genotype

Question 7

Who coined the term ‘behavioural phenotype’?

Answer 7

Nyhan

Question 8

What does behavioural phenotype mean?

Answer 8

A relationship between genes and behaviour- not just associated physical characteristics but also behavioural/cognitive outcome associated with the genotype

Question 9

What is total specificity?

Answer 9

Genetic syndromes have unique behavioural outcomes

Question 10

What is partial specificity?

Answer 10

Several different genetic syndromes may lead to a single outcome

Question 11

Is total or partial specificity more common?

Answer 11

Partial specificity

Question 12

What are within syndrome differences?

Answer 12

Different genetic syndromes have different patterns of behaviour but a big gap between genetic difference and behaviour that we can observe

Question 13

What is the advantage of looking within syndrome?

Answer 13

We can learn more and provide a stronger evidence base for that gene behaviour influence

Question 14

What is the prevalence of Prader-Willi syndrome?

Answer 14

1:10,000-1:15,000

Question 15

Which chromosome is Prader-Willi syndrome determined by?

Answer 15

Chromosome 15, q11-13

Question 16

What are the 3 causes of Prader-Willi syndrome?

Answer 16

Paternal deletion
Maternal uniparental disomy
Imprinting abnormality

Question 17

6 Prader-Willi syndrome symptoms

Answer 17

Intellectual disability
Deficits in inhibition
Repetitive behaviour
Physical phenotype
Hyperphagia
Temper outbursts

Question 18

What is the prevalence of Fragile X syndrome?

Answer 18

1:4,000-1:6,000

Question 19

What are the causes of Fragile X syndrome?

Answer 19

X chromosome- FMR1 gene or CGG repeat expansion

Question 20

4 Fragile X syndrome symptoms

Answer 20

Intellectual disability
Autism characteristics
Averted eye gaze
Repetitive behavior

Question 21

What is the main cause of Fragile X syndrome?

Answer 21

An excess of CGG repeats on X chromosome

Question 22

How has the CGG repeats been shown to be different in different individuals?

Answer 22

Complete loss of function and protein production (complete silencing)
Overexpression of protein (incomplete silencing)

Question 23

What is a problem with a nature aetiology-based approach?

Answer 23

Diagnostic overshadowing

Question 24

What is diagnostic overshadowing?

Answer 24

A tendency to attribute all problems to a primary diagnosis so leaving other co-occurring conditions undiagnosed

Question 25

What is therapeutic nihlism?

Answer 25

“Nothing we can do”