Abnormal development

Question 1

what does global delay mean

Answer 1

delays in at least 2 areas of development

Question 2

what does specific delay mean

Answer 2

delay in 1 specific area of development

Question 3

what does deviation mean?

Answer 3

alternative development in some areas eg autism

Question 4

what are some red flags for development?

Answer 4

asymmetry of movement with high/low tone
persistent primitive reflexes by 6 months
unable to sit unsupported by 12 months
unable to walk by 18 months (check CK)
no speech/not pointing by 18 months
concerns re vision/hearing at any age
loss of skills at any age

Question 5

how many people does global developmental delay affect?

Answer 5

up to 3% of U5s

Question 6

what are some causes of GDD?

Answer 6

genetic
metabolic/endocrine
trauma
environmental
cerebral malformations
complications of prematurity
infections
toxins
unknown

Question 7

what are some medical screening in down syndrome?

Answer 7

cardiac (40% have a cardiac defect)
vision
hearing
thyroid function
sleep related breathing disorders
growth
development

Question 8

what is duchennes muscular dystrophy?

Answer 8

x linked recessive
mutation on dystrophin gene which leads to weakness/fatigue/cramps/psuedohypertrophy which can lead to being wheelchair bound (usually by age 8-12)

Question 9

what are some conditions associated with duchennes?

Answer 9

cardiomyopathy
resp failure
cognitive difficulties
life-limiting

Question 10

is Ck usually elevated in duchennes?

Answer 10

yes (usually>10000)

Question 11

what is spinal muscular atrophy?

Answer 11

autosomal recessive
deletion/mutation of both SMN gene
a spectrum
early onset=greater severity
degeneration of MN leads to hypotonia/progressive weakness and intercostal weakness

Question 12

how is spinal muscular atrophy diagnosed?

Answer 12

clinical suspicion> genetic testing for SMN 1+2

Question 13

how is SMA treated?

Answer 13

physio
ortho involvement
nutrition and gi support
palliative care
drugs- IT nusinersen 4/12ly, Iv zolgensma

Question 14

what are some conditions associated with cerebral palsy?

Answer 14

mobility problems
learning difficulties
epilepsy
visual/hearing issues
communication difficulties
feeding issues
sleep issues
behavioral issues

Question 15

what is the autism triad?

Answer 15

communication issues
social interaction issues
flexibility of thought/imagination

Question 16

what are some developmental delay investigations