Paeds

Question 1

Cystic fibrosis inheritance pattern and gene with mutation

Answer 1

autosomal recesive

cystic fibrosis transmembrane conductance regulator gene (CFTR gene)

Question 2

Life expectancy of cystic fibrosis

Answer 2

Mid thirties-forties

Question 3

Presenting sx in CF

Answer 3

Meconium ileus (often first sign)
GIT - failure to thrive, pancreatic disease, intestinal obstruction
Resp - obstructive lung disease with bronchiectasis, recurrent productive cough/pulmonary infections
Sweat - real salty/electrolyte wasting
MSK - osteopaenia + #
Urogenital - UTI, nephrolithiasis

Question 4

Investigations for CF

Answer 4

Newborn screening
Sweat test (gold standard - detects hyperchloraemic sweat) –> abnormal/borderline result –> for DNA analysis
* management of CF is supportive

Question 5

Define bronchiolitis

Answer 5

A clinical syndrome of URTI followed by LRTI in children <2.

Question 6

Main virus in bronchiolitis

Answer 6

Respiratory syncytial virus

Question 7

Natural history of bronchiolitis

Answer 7

worsens over 2-3 days –> gradual recovery within 7-10 days - mild cough can persist for ~2weeks

Question 8

Clinical features suggesting bacterial pneumonia > bronchiolitis

Answer 8

• More lethargic
• Temp >38.5
• Tachycardia
• Tachypnoea
• Low SaO2
• Not eating/drinking
• Cough may be absent
• Focal exam findings (although this is rare)

Question 9

Management of bronchiolitis

Answer 9

Supportive only - O2 if necessary, IVF, NBM if aspiration risk. Abx if clear evidence of secondary infection.?role of SABA in child >6 months who may have asthma

Question 10

Croup clinical syndrome

Answer 10

Hoarse voice
Barking cough
Inspiratory stridor
+/- increased WOB

Question 11

Management of croup

Answer 11

Supportive mostly.
Mild - nil pharm
Mod-severe (increased WOB) - O2 if sats <94, adrenalin neb 1:1000, steroids (systemic pred 1mg/kg, budesonide nebs)

Question 12

Definition of a simple febrile seizure

Answer 12

• Age 6 months- 6 years
• Generalised tonic clonic convulsion
• Occurs only once in 24 hours
• No post-ictal deficit
• Lasts <15 min
• • Mx - treat the child as if it is septic - ie with a full septic screen

Question 13

Definition of Cerebral Palsy

Answer 13

A non-progressive motor condition characterised by abnormalities of posture, movement and tone due to brain malformation or injury during the developmental period
** non-progressive is important

Question 14

Classification of cerebral palsy

Answer 14

• Spasticity (75%) - lesion in UMN - really tight/stiff muscles - scissor gait, toe walk
• Dyskinetic (20%) - basal ganglia injury - involuntary movements: dystonia, chorea
• Ataxic (5%) - cerebellar lesion - clumsy, unstable

Question 15

Diagnosing cerebral palsy

Answer 15

• clinically with exclusion of progressive disorders
• brain MRI >2yo identifies abnormality in 80-90%
• Functional scales describe severity and support levels

Question 16

Comorbidities of cerebral palsy

Answer 16

Pain (75%)
epilepsy
cognitive impairment
vision and hearing impairment
feeding disorders

Question 17

Child begins declining in school performance. What are some possible causes?

Answer 17

hearing and vision impairment
seizures
OSA
alzheimers
Cardiac
Hypothyroid
ASD
Neglect/abuse/bullying
Hirschsprungs
Coeliac disease

Question 18

Primary vs secondary enuresis

Answer 18

Primary: child has always wet the bed or in nappies at night
Secondary: child becomes wet at night after >6/12 of night dryness previously

Question 19

Diagnosis of ADHD

Answer 19

At least 6 symptoms involving inattentiveness, hyperactivity, or both, that have persisted for at least 6 months. Inattention = problems listening, concentrating, paying attention to detail, organising tasks, easily distracted, often forgetful. Hyperactivity = blurting out, interrupting, fidgeting, leaving seat, talking excessively.
Onset before age 7 - behaviour inconsistent with age and development

Question 20

Management of active seizure

Answer 20

initiate treatment 5 min from seizure onset. DRS ABCD

1. Midazolam IV 0.2mg/kg then WAIT 5 min (if no IV access midazolam 0.5mg/kg IM or buccal then WAIT 10 min)
2. Repeat step 1
3. Ongoing seizure after second midaz dose or for >20 min: phenytoin 20mg/kg IV infusion with saline over 20 minutes – CALL NETS and find an anaesthetist
4. Ongoing seizures –> rapid sequence induction with thiopentone 2-5mg/kg

Question 21

Definition of anaphylaxis

Answer 21

Acute onset illness with rash and resp, cardio or severe GIT symptoms
OR
hypotension, bronchospasm or upper airway obstruction without rash

Question 22

Complications of measles

Answer 22

• Pneumonia (primary viral or secondary bacterial)
• Purulent conjunctivitis
• Encephalitis
• Diarrhoea/malabsorption
• Death (usually due to encephalitis)
• Croup
• Bronchitis
• Otitis media

Question 23

Contraindications to immunisation

Answer 23

Temp >38.5 (defer)
Previous severe reactions (anaphylaxis)
Relative (for live vaccines) - immunodeficient, pregnant, previous live vaccine within one month