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Paediatrics Flashcards

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1
Q

Chromosomes in Patau’s vs Edwards

A

Patau’s - 13
Edward’s - 18

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2
Q

Features of Patau’s syndrome

A
  • Microcephalic
  • Small eyes
  • Cleft lip/palate
  • Polydactylyl
  • Scalp lesions
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3
Q

Features of Edward’s syndrome

A
  • Micrognathia
  • Low-set ears
  • Rocker bottom feet
  • Overlapping of fingers
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4
Q

Features of Fragile X

A
  • Learning difficulties
  • Macrocephaly
  • Long face
  • Large ears
  • Macro-orchidism
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5
Q

Features of Noonan syndrome

A
  • Webbed neck
  • Pectus excavatum
  • Short stature
  • Pulmonary stenosis
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6
Q

Features of Pierre-Robin syndrome

A
  • Micrognathia
  • Posterior displacement of tongue
  • Cleft palate
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7
Q

Features of Prader-Willi syndrome

A
  • Hypotonia
  • Hypogonadism
  • Obesity
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8
Q

Features of William’s syndrome

A
  • Short stature
  • Learning difficulties
  • Friendly, extroverted personality
  • Transient neonatal hypercalcaemia
  • Supravalvular aortic stenosis
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9
Q

Features of Cri du Chat syndrome

A
  • Characteristic cry due to larynx and neurological problems
  • Feeding difficulties and poor weight gain
  • Learning difficulties
  • Microcephaly and micrognathism
  • Hypertelorism
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10
Q

Hearing test used in newborn screening programme

A

Otoacoustic emission test

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11
Q

Hearing test used in newborns and infants

A

Auditory brainstem response test

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12
Q

Hearing test used at 6-9 months

A

Distraction test

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13
Q

Hearing test used at 18 months - 2.5 years

A

Recognition of simple objections, e.g. ‘where is the teddy’

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14
Q

Hearing test used >2.5 years

A
  • Performance testing
  • Speech discrimination testsH
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15
Q

Hearing test used >3 years

A

Pure tone audiometry

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16
Q

Features of chondromalacia patallae

A
  • Common in teenage girls
  • Anterior knee pain on walking up and down stairs and rising from prolonged sitting
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17
Q

Features of Osgood-Schlatter disease

A
  • Seen in sporty teenagers
  • Pain, tenderness, and swelling over tibial tubercle
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18
Q

Features of osteochondritis dissecans

A
  • Pain after exercise
  • Intermittent swelling and locking
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19
Q

Features of patellar subluxation

A
  • Medial knee pain due to lateral subluxation of patella
  • Knee may give way
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20
Q

Features of patellar tendonitis

A
  • More common in athletic teenage boys
  • Chronic anterior knee pain that worsens after running
  • Tender below patella on examination
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21
Q

Features of DDH

A
  • Barlow’s and Ortolani’s positive
  • Unequal skin folds/leg lengths
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22
Q

Features of transient synovitis

A
  • 2-10 years old
  • Acute hip pain associated with viral infection
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23
Q

Features of Perthe’s disease

A
  • 4-8 years old
  • Hip pain developing over few weeks
  • Limp
  • Stiffness and reduced range of movement

10% cases bilateral

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24
Q

XR changes in Perthe’s disease

A

Early changes - widening of joint space
Later changes - decreased femoral head size/flattening

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25
Features of SUFE
- 10-15 years - More common in obese children and boys - Knee or distal thigh pain - Loss of internal rotation of leg in flexion - May present following trauma or with chronic, persistent symptoms 20% cases bilateral
26
Features of JIA
- Joint pain and swelling, usually medium sized joints e.g. knees, ankles, elbows - Limp - ANA may be positive
27
Features of septic arthritis
- Acute hip pain - Systemic upset, e.g. pyrexia - Inability/severe limitation of affected joint
28
Poor prognostic factors ALL
- Age <2 or >10 - WBC >20 at diagnosis - T or B cell surface markers - Non-Caucasian - Male sex
29
Aortic stenosis associations
- William's syndrome - Coarctation of aorta - Turner's syndrome
30
Management aortic stenosis in children
Aim to avoid or delay valve replacement If gradient >60mmHg, ballon valvotomy may be indicated
31
Features of severe asthma attack in children
- SpO2 <92% - PEF 33-50% best or predicted - Too breathless to talk or feed - HR >125 in >5 years, >140 in 1-5 years - RR >30 in >5 years, >40 in 1-5 years - Use of accessory neck muscles
32
Features of life-threatening asthma attack in children
- SpO2 <92% - PEF <33% best or predicted - Silent chest - Poor resp effort - Agitation - Altered consciousness - Cyanosis
33
Initial management of ADHD in primary care
10 week watch and wait period - see if symptoms change or resolve - if persist, refer to secondary care
34
Conservative management ADHD
Parents attending education and training programmes
35
Indications drugs ADHD
- Failure to respond to conservative methods - Severe symptoms
36
First line treatment ADHD
Methylphenidate
37
SEs methylphenidate
- Abdominal pain - Nausea - Dyspepsia - Cardiotoxic
38
Monitoring methylphenidate
- Weight and height monitoring every 6 months - ECG at start of treatment
39
Second line drug ADHD
Lisdexamfetamine
40
Metabolic conditions that are X-linked recessive
- Hunters - G6PD
41
Metabolic conditions that are autosomal dominant
- Hyperlipidaemia type II - Hypokalaemic periodic paralysis
42
Structural conditions that are autosomal recessive
- Ataxia telangiectasia - Friedreich's ataxiaA
43
Age benign rolandic epilepsy
4-12 years
44
Features benign rolandic epilepsy
- Seizures occur at night - Typically partial, secondary generalisation may occur - Child otherwise normal
45
EEG benign rolandic epilepsy
Centrotemporal spikes
46
Prognosis benign rolandic epilepsy
Excellent - seizures stop by adolescence
47
What is caput succedaneum
Oedema of the scalp at presenting part of head, typically vertex
48
Features caput succedaneum
- Soft puffy swelling due to localised oedema - Crosses suture lines
49
When does cephalohaematoma develop
Typically several hours after delivery
50
Most common site cephalohaematoma
Parietal region
51
How long does cephalohaematoma take to resolve
3 months
52
When is chickenpox contagious
4 days before rash, 5 days after rash first appeared (once all lesions dry and crusted)
53
Incubation period chickenpox
10-21 days
54
Clinical features chickenpox
Fever initially Itchy rash starting on head/trunk → spreading. Initially macular → papular → vesicular
55
Who needs VZIG chickenpox
- Immunocompromised - Newborns with peripartum exposure
56
Complications chickenpox
- Secondary bacterial infection - Pneumonia - Encephalitis - Disseminated haemorrhagic chickenpox - Arthritis - Nephritis - Pancreatitis
57
What increases risk of secondary bacterial infection of chickenpox
Ibuprofen
58
Features measles infection
- Prodrome of irritability, conjunctivitis, fever - Koplik spots (white spots on buccal mucosa) - Rash
59
Features of rash in measles
Starts behind ears → whole body Discrete maculopapular rash becoming blotchy and confluent
60
Features measles
Fever, malaise, muscle pain Parotiditis - earache, pain on eating - unilateral → bilateral in 70% Rash
61
Features rubella
Pink maculopapular rash, initially on face → whole body, usually fades by 3-5 day Lymphadenopathy - suboccipital and postauricular
62
Cause erythema infectiosum
Parvovirus B19
63
Features erythema infectiosum
- Lethargy, fever, headache - Slapped cheek rash → proximal arms and extensor surfaces
64
Cause scarlet fever
Reaction to erythrogenimc toxins produced by group A strep
65
Features scarlet fever
- Fever, malaise, tonsillitis - Strawberry tongue - Rash - fine punctuate erythema sparing area around the mouth (circumoral pallor)
66
Features hand foot and mouth
- Mild systemic upset - sore throat, fever - Vesicle sin mouth, and on palms/soles of feet
67
Cause hand foot and mouth
Coxsackie A16
68
Age of presentation coeliac in children
Usually before age of 3 (following introduction of cereals to diet)
69
Gene associations coeliac
HLA-DQ2 and HLA-DQ8
70
Features congenital diaphragmatic hernia
- Pulmonary hypoplasia - Pulmonary hypertension → resp distress at birth
71
Most common acyanotic CHD
VSD
72
Most common cyanotic CHD
Tetralogy TGA more common at birth as presents earlier (ToF 1-2 months)
73
Age and consent
- Under 16 if meet Fraser guidelines, but cannot refuse treatment deemed in their best interest - 16-18 presumed competent to consent to treatment - 18+ may consent or refuse
74
First line management constipation with impaction
Movicol (polyethylene glycol 3350 + electrolytes) using escalating dose regime
75
Second line management constipation with impaction
Add stimulant laxative if disimpaction not achieved in 2 weeks
76
Treatment constipation without impaction/maint
Movicol Add stimulant laxative if no response Add lactulose or docusate if stools hard
77
How long to continue laxatives childhood constipation
Continue at maint dose for several weeks after regular bowel habit established, then gradually reduce dose
78
Role of dietary interventions in childhood constipation
Do not use alone as first line treatment
79
Management constipation in infants <6 months
- If bottle fed, extra water between feeds - If breastfed, constipation unusual - consider organic causes
80
Features CMPA
- Regurgitation and vomiting - Diarrhoea - Urticaria, atopic eczema - Irritability, crying - Wheeze, chronic cough
81
Diagnosis CMPA
Often clinical Skin prick/patch testing Total IgE and specific IgE for CMP
82
First line management CMPA
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