9- Gene X Environment Interactions

Question 1

How is Lesch-Nyhan syndrome characterised?

Answer 1

One of the very few syndrome with total specificity of phenotype behaviour: gene difference leads to specific compulsive self-injurous behaviour

Question 2

What is the prevalence of Cornelia de Lange syndrome?

Answer 2

1 in 40,000

Question 3

How is Cornelia de Lange syndrome caused?

Answer 3

Deletions on chromosomes 5, 10 and X

Question 4

What are the 7 main features of Cornelia de Lange syndrome?

Answer 4

Mild-profound IQ
Small stature
Upper limb abnormalities
Distinctive facial features
High prevalence of gastroesophagael reflux
Limited speech, receptive-expressive language discrepancy
Increased prevalence of autistic-like behaviours

Question 5

What is GERD?

Answer 5

Muscle at top of the stomach not strong enough to contain the content of the stomach

Question 6

What can the burning sensation of GERD cause?

Answer 6

Tissue damage

Question 7

Why can GERD cause ear infection and mouth/teeth issues?

Answer 7

Because of the acid in the stomach

Question 8

What are the 4 main symptoms of individuals with GERD?

Answer 8

Hyperactivity
Poor sleep
Teeth grinding
Self-injurious behaviour