Developmental exam

Question 1

Hemihypertrophy

-causes-

Answer 1

inherited

• isolated/familial hemihyperplasia
• NF
• bone dysplasia

syndromes:

• BWS, proteus, Klippel-Trenaunau-Weber syndrome

acquired

• chronic hyperaemia
• vascular disorders (haemangioma/AVM)

Question 2

Prune belly syndrome

Answer 2

incidence: 1/40,000, 97% male

clinical:

1) lack of abdominal wall muscles, malrotation
2) cryptoorchidism, defect urinary tract
3) VSD
4) club foot, msk defect

Question 3

Scoliosis

causes

Answer 3

Syndromic: NF-1, Marfan syndrome

Congenital

Orthopaedic: compensatory eg. leg length

Low tone/high tone - neuromuscular

• central: cerebral palsy, spina bifida, cerebellar
• peripheral: spinal muscular atrophy
• myopathic: Duchenne Muscular Dystrophy

Idiopathic

risk in CP: 0% GMFCS 1, 40% GMFCS 3, 90% GMFCS 5

treatment: <30 degrees watch, >40 degrees surgery

Question 4

Indications pneumococcal vaccine

Answer 4

5 yearly vaccine IF:

- immune deficiency: not on IVIg

- chronic disease: ESRF, cardiac disease (cyanosis/CHF), CF, CLD, DM1

- preterm< 28 weeks

• CSF leak/intracranial shunt/cochlear implant
• T21

Question 5

Trisomy 21

Answer 5

Screening:

• hearing test
• opthalmology review
• TFTs 6 monthly
• coeliac screen
• cervical spine disorders: XR for atlanto-axial articular laxity

Question 6

constipation

Answer 6

causes:

• Hirschsprung’s disease
• hypothyroidism
• spina bifida
• meconium ileus

management:

• full LL/back neurological examination
• MDT
• behavioural management: stars, toileting
• community mx: school nurse, community nurse
• dietary advice
• medical therapy: osmotic washout then maintenance tx

Question 7

chronic diarrhoea in infant

Answer 7

causes:

• infection, post infective lactose intolerance
• food allergy/intolerance: cow’s milk protein
• coeliac disease
• CF
• immunodeficiency

investigations:

• growth centiles
• stool MCS, virology, reducing substance
• blood count, EUCs, albumin, LFTs, coeliac screen (tTG/IgA), inflammatory markers
• sweat test, faecal elastase
• duodenal biopsy

Question 8

Primitive reflexes

Answer 8

Question 9

Gross motor

Answer 9

Question 10

Fine motor

Answer 10

Question 11

Social

Answer 11

Question 12

Speech

Answer 12

Question 13

Older gross motor

Answer 13

Question 14

Older fine motor

Answer 14

Question 15

Older speech

Answer 15

Question 16

Older social

Answer 16

Question 17

Developmental delay

Answer 17

investigations:

• chromosome
• fragile X
• TFTs
• CPK
• metabolic screen
• Xray hips/spine
• neuroimaging

Question 18

Visual assessment

Answer 18

clinical

electrophysiological: inherited retinal disorders, storage disease, demyelinating

electroretinogram: integrity retina

visual evoked responses: integrity of visual pathway

Question 19

Hearing assessment

Answer 19

evoked otoacoustic emissions: NBST produces sound causing acoustic emission from cochlea detected by small microphone in ear canal

distraction test (6-9 months)

pure tone audiometry

brainstem auditory evoked responses

electrocochleography

Question 20

Autism

Answer 20

definition: affects social interaction, communication, behaviour

Question 21

Developmental screen

Answer 21

Question 22

Pen grips

Answer 22

Question 23

Psychometric assessment

Answer 23

Medical: rule out hearing, vision, bloods etc

Development (<5yrs): Griffiths, Bailey’s

IQ (>5yrs): WIPPSI, WISC

Scales of adaptive functioning: Adaptive Behavioutal Assessment System (ABAS-3)

Autism specific: Autism Diagnostic Observation Schedule (ADOS)

Neuropsychological assessment: memory, attention, executive function, verbal fluency

Behaviour scale: Achenbach Child Behaviour Checklist (CBCL) (anxiety, attention, ADD, depression), Conner’s Rating Scale (ADHD)