Developmental Delay

Question 1

define developmental delay

Answer 1

failure to attain developmental milestones for the childs corrected chronological age

Question 2

what are the patterns of delay and give an example of each

Answer 2

delay eg downs syndrome
deviations eg autism
regression eg Retts syndrome or metabolic disorder

Question 3

describe difference between global and specific developmental delay

Answer 3

global delay is affecting 2 or more developmental domains eg Downs syndrome whereas specific only affects one such as muscular dystrophy affects gross motor only

Question 4

IQ of what is severe learning disability

Answer 4

<50, mild is 50-70 and >100 is normal

Question 5

list the main red flags for developmental delay

Answer 5

asymmetry of movement of limbs 
not sitting unsupported at 12 months 
not walking at 18 months 
not reaching for objects at 6 months 
concerns with vision and hearing
loss of skills

Question 6

list the screening tools used in Downs Syndrome

Answer 6

cardiac - congenital defects common
vision 
hearing 
thyroid function 
sleep apnoea 
different growth charts

Question 7

if a child is not walking by 18 months what test is carried out

Answer 7

creatinine kinase

Question 8

what conditions are commonly associated with sensory defects in children

Answer 8

oculocutaneous albinism

Treacher-Collins

Question 9

what is lost in Duchenne muscular dystrophy and what type of mutation is it

Answer 9

X-linked recessive

total loss of dystrophin

Question 10

what is the classic presentation of Duchenne Muscular dystrophy

Answer 10

boy aged 1-6 with clumsy worsening gait

Question 11

what is Gowers manoeuvre and what causes this

Answer 11

child uses hands to get up from seated position and walks hands up legs - caused by weak pelvic girdle

Question 12

define hemiplegic, paraplegic, diplegic and quadriplegic

Answer 12

hemiplegic - arm and leg on one side affected
paraplegic - both legs only
diplegic - both legs + some arm involvement
quadriplegic - all limbs