Intellectual Disability

Question 1

What do microarrays identify?

Answer 1

Copy number variants/ submicroscopic chromosomal deletions or duplications

Question 2

What neurodevelopmental disorders are copy number variants associated with?

Answer 2

Intellectual disability
Schizophrenia
Autism

Question 3

VCFS locus deletion is implicated in what neuropsychiatric presentation?

Answer 3

Psychosis (40% of VCFS carriers)

Question 4

What is the most common single gene cause of intellectual disability and autism in boys?

Answer 4

Fragile X

Question 5

What is the incidence of Down syndrome?

Answer 5

1 in 700 live births

Question 6

What is the relative prevalence of dementia in intellectual disability?

Answer 6

3 times general population
(13% over 60 vs 4.1% in GP)

Question 7

What genetic condition has intellectual disability and schizophrenia as common symptoms?

Answer 7

22q11.2 syndrome (VCFS)

Question 8

What are examples of challenging behaviours

Answer 8

Demanding behaviour
Verbal aggression
Physical aggression
Destructiveness
Self injurious behaviour
Absconding
Stripping in public

Question 9

What is diagnostic overshadowing?

Answer 9

The tendency to attribute behaviours to the learning disability rather than investigating

Question 10

What is baseline exaggeration?

Answer 10

Exaggeration of baseline state which might hide deterioration “they’ve always been like that” l