Ld

Question 1

Learning disability assessment

Answer 1

IQ
Mild 50-69
Moderate 35-49
Severe 20-34
Profound <20,

Question 2

Cause of learning disability

Answer 2

Idiopathic

Genetic

Question 3

Down syndrome main 2 diagnostic featrues

Answer 3

Single palmar crease 
Brushfield spots (white spot on iris fundoscopy)

Question 4

Causes of Downs

Answer 4

Robinsonian translocation 14 to 21
Mosaicism
Trisomy 21 (96%)

Question 5

Average life expectancy for Downs

Answer 5

50s yo

Question 6

Complications of Downs

Answer 6

Early dementia (3rd and 4th decade)
Epilepsy
Leukaemia
Ear infection

Question 7

First screening test for Downs

Answer 7

10-12 wks
Increased nuchal thickness on USS
low PAPP-A
High bHCG

Question 8

Quadruple test for downs

Answer 8

15-22 wks (quadruple test) 
Low AFP 
Low oestradiol 
High bHCG 
High inhibin A

Question 9

Diagnostic tests for downs

Answer 9

Chorionic villous sampling (risk of miscarriage)

Amniocenthesis (risk of miscarriage)

Question 10

Fragile X chromosome

Answer 10

More than 200 CCG copies

Between 15 to 200, increased risk

Question 11

Fx of fragile x

Answer 11

Thin
Tall
Large testis
Low lying ears

Question 12

Di goerge syndrome sx

Answer 12

Catch 22
Cardiac
Abnormal facies
Thymus hypoplasia
Cleft palate
Hypocalcaemia 
22 q 12

Question 13

Common problems with LD

Answer 13

Epilepsy
Psychosis (schizophrenia)
Challenging behaviour

Question 14

Autism

Answer 14

Narrow set of routines
Social Interaction difficulties
Communication difficulties

Question 15

Aspergus syndrome

Answer 15

Similar to high functioning autism
Early speech development
High verbal IQ (use complex words) but low performance IQ (cant do routine activities)

Question 16

Autism pt at high risk of which mental condition

Answer 16

Anxiety