Developmental delay + disability

Question 1

Define:

a. Impairment
b. Disability
c. Handicap

Answer 1

Impairment = any loss or abnormality of psychological, physiological or anatomical structure/function

Disability = any restriction or lack of ability to perform an activity in the manner considered normal
It can occur at 3 levels and is an umbrella term for:
- impairment in body function
- limitation in activity
- restriction in participation

Handicap = impact of impairment/disability on the person’s pursuit/achievement of goals

Question 2

What are the different types of development with disability?

Answer 2

1. Normal
2. progressive
3. plateau
4. episodic
5. delay

Question 3

What method can be used for the rapid diagnosis of trisomy 21?

Answer 3

Fluorescence in situ hybridisation (FSH)

Question 4

What % of Down’s syndrome neonates will have congenital heart defect? What are the most common defects?

Answer 4

40-60%
ASVD (30-40%)
Tetralogy of Fallot 
VSD 
ASD 
Hypoplastic left heart 

*AVSD can lead to Eisenmenger shunt

Question 5

What other tests should be carried out on a baby with Down’s syndrome?

Answer 5

Hearing tests (may have sensorineural hearing loss)
Ophthalmology (congenital cataract/glaucoma)
GI check

*assess the child again after 3 months

Question 6

What is autism? How prevalent is it?

Answer 6

it is a developmental condition that affects the way the brain processes information; it is a spectrum of many different conditions
Around 1:1000 children have this condition and incidence is increasing

Question 7

What is the A1555G mutation? What complications can arise? What is the prevalence of this mutation? How is it inherited?

Answer 7

This mutation causes sensorineural deafness and can be triggered/enhanced by aminoglycosides 
Leads to:
- communication difficulties 
- academic difficulties 
- social functioning difficulties 

1 in 500 people have it
It is inherited maternally