Development

Question 1

What are some random features of Fragile X

Answer 1

Associated with epilepsy, ID, autism

Dysmorphic features - long face, large ears, big balls, flat feet

Repeat expansion on the X chromosome
Mostly affects boys but can affect girls

Question 2

What are risk factors for cerebral palsy?

Answer 2

Sepsis
Premature
Traumatic birth
Infection inutero

Question 3

Main issues in CP?

Answer 3

Associated - epilepsy, ID, mental health issues
Pain
Feeding
Constipation
Urinary retention

Question 4

Issues in Down syndrome?

Answer 4

GIT abnormalities
Cardiac - ASVSD
Hypothyroidism
Congenital cancers - leukaemia
Infertility 
ID
Mental health
seizures
Alzheimers later

Question 5

Features for hearing impairment

Answer 5

Plataeu from normal development
Not responding to name
Not global developmental issues
Recurrent ear infections

Question 6

Hearing - audiogram interpretation

Answer 6

Expect air and bone conduction to be same for normal hearing

Discrepancy between if conductive - air will be worse

Sensioneural - both be equally low/dropping