Abnormal Development

Question 1

What is developmental delay?

Answer 1

Failure to attain appropriate developmental milestones for child’s corrected chronological age

Question 2

What are the different patterns of abnormal development?

Answer 2

Delay:
- global 
- specific
Deviation e.g. ASD
Regression e.g. Rett's syndrome, metabolic disorders

Question 3

What are the red flags for development?

Answer 3

Asymmetry of movement
Not reaching for objects by 6 months
Unable to sit unsupported by 12 months
Unable to walk by 18 months
No speech by 18 months
Concerns re vision or hearing
Loss of skills

Question 4

If a child isn’t walking by 18 months, which initial test should be done?

Answer 4

CK

Question 5

What is the definition of global developmental delay?

Answer 5

Significant delay in 2+ of:

• gross/fine motor
• speech/language
• cognition
• social/personal
• activities of daily living

Question 6

Which medical screenings need to be carried out in a patient with Down’s syndrome?

Answer 6

Development
Growth charts
Cardiac
Vision
Hearing
Thyroid function
Sleep related breathing disorders

Question 7

Which conditions may cause specific motor delays?

Answer 7

Duchenne muscular dystrophy
Cerebral palsy
Co-ordination disorders

Question 8

Which conditions might cause specific sensory deficits/delays?

Answer 8

Oculocutaneous albinism

Treacher-Collins

Question 9

Which genetic test is best when looking for an entire chromosome/large part of chromosome mutation?

Answer 9

Array CGH

Question 10

Which genetic test is best when looking for a small mutation e.g. point mutation?

Answer 10

Next generation sequencing