Paediatrics

• Patau syndrome  (trisomy 13): Microcephalic, small eyes - Cleft lip/palate - Polydactyly (baby is born with one or more extra fingers) - Scalp lesions
• Edward's syndrome (trisomy 18)


  • Micrognathia (lower jaw is smaller than normal - mandible)
  • Low-set ears
  • Rocker bottom feet
  • Overlapping of fingers
• Fragile X


  • Learning difficulties
  • Macrocephaly
  • Long face
  • Large ears
  • Macro-orchidism (increased testicular volume)
• Noonan syndrome


  • Webbed neck
  • Pectus excavatum (concave shape, funnel chest, sunken chest - when the ribs and sternum grow inward and form a dent in the chest, chna diamond in the sternum)
  • Short stature
  • Pulmonary stenosis
• Pierre-Robin syndrome


  • Micrognathia
  • Posterior displacement of the tongue (may result in upper airway obstruction)
  • Cleft palate
• Prader-Willi syndrome


  • Hypotonia
  • Hypogonadism
  • Obesity
• William's syndrome


  • Short stature
  • Learning difficulties
  • Friendly, extrovert personality
  • Transient neonatal hypercalcaemia
  • Supravalvular aortic stenosis
• William's syndrome is associated with several distinctive physical features, including elfin facies, strabismus, broad forehead and short stature (it is Klinefelter's syndrome which is characterised by a tall slender stature)
• Cri du chat syndrome (chromosome 5p deletion syndrome)


  • Characteristic cry (hence the name) due to larynx and neurological problems
  • Feeding difficulties and poor weight gain
  • Learning difficulties
  • Microcephaly and micrognathism
  • Hypertelorism (increased distance between 2 body parts)
• Developmental Milestones

  
• Developmental Milestones


  • Newborn/3m
  • 6m
  • 9m
  • 1y
  • 12-15m
  • 2y
  • 3y
  • 4y
  • 5y
• Newborn/3m Developmental Milestones


  • Flexed posture - Holds up head (6m)
  • Fix & follow object (3m)
  • Startle to loud noise
  • Smile by 6 weeks (8w)
• 6m Developmental Milestones

  • Sit unsupported (9m)
  • Crawl (12m)
  • Palmar grasp, Pass Block between hands
  • 9m - points with finger, early pincer
  • Monosyllabic babble
  • Feed self
• 1y Developmental Milestones


  • Stand independently
  • Walk steadily (18m)
  • 12m - good pincer grip
  • Respond to name
  • 2 syllables 'mama'/'dada'
  • Drink from cup with 2 hands/ finger feed
• 2y Developmental Milestones

  • Run - gross motor
  • Scribble (fine motor/vision)
  • 2-word sentence 'want cat' (2.5y) - language
  • Remove an item of clothing/ play alone/ competent with a spoon, doesn't spill with cup - social
• 3y Developmental Milestones


  • Jump
  • Copy a line
  • 3/4 word sentences
  • Put on an item of clothing/ use cutlery
• 4y Developmental Milestones


  • Stand on each foot for 3s
  • Copy a cross/square
  • Name 4 colors
  • Dress independently
• 5y Developmental Milestones


  • Walk heel-to-toe
  • Draw a 6-part person/triangle
  • All speech understandable
  • Count to 5
  • Play board games
  • Brush teeth
• Play Age Bricks


  • 15m - Tower of 2
  • 18m - Tower of 3
  • 2y - Tower of 6
  • 3y - Tower of 9
• Drawing


  • 18m - Circular scribble
  • 2y - Copies vertical line
  • 3y - Copies circle
  • 4y - Copies cross
  • 5y - Copies square and triangle
• Auditory Brainstem Response test


  May be done if otoacoustic emission test is abnormal
• Distraction test


  Performed by health visitor, requires two trained staff

  Done at 6-9 months
• Recognition of familiar objects


  Uses familiar objects, ask child simple questions

  Done at 18-2.5 months
• Speech discrimination tests


  Uses similar-sounding objects e.g. Kendall Toy test, McCormick Toy Test

  Done at >2.5 years
• Pure tone audiometry


  Done at school entry in most areas of the UK

  Done at >3yrs
• All newborns should be tested as part of the Newborn Hearing Screening Programme
• Childhood Infections

  Infections that commonly occur in children
• Childhood Infections

  • Chickenpox
  • Measles
  • Mumps
  • Rubella
  • Erythema infectiosum
  • Scarlet fever
  • Hand, foot and mouth disease
• Chickenpox

  • Fever initially
  • Itchy, rash starting on head/trunk before spreading. Initially macular then papular then vesicular
  • Systemic upset is usually mild
• Measles

  • Prodrome: irritable, conjunctivitis, fever
  • Koplik spots: white spots ('grain of salt') on buccal mucosa
  • Rash: starts behind ears then to whole body, discrete maculopapular rash becoming blotchy & confluent
• Mumps

  • Fever, malaise, muscular pain
  • Parotitis ('earache', 'pain on eating'): unilateral initially then becomes bilateral in 70%
• Rubella

  • Rash: pink maculopapular, initially on face before spreading to whole body, usually fades by the 35 day
  • Lymphadenopathy: suboccipital and postauricular
• Erythema infectiosum

  • Also known as fifth disease or 'slapped-cheek syndrome'
  • Caused by parvovirus B19
  • Lethargy, fever, headache
  • 'Slapped-cheek' rash spreading to proximal arms and extensor surfaces
• Scarlet fever

  • Reaction to erythrogenic toxins produced by Group A haemolytic streptococci
  • Fever, malaise, tonsillitis
  • 'Strawberry' tongue
  • Rash - fine punctate erythema sparing the area around the mouth (circumoral pallor)
• Hand, foot and mouth disease

  • Caused by the coxsackie A16 virus
  • Mild systemic upset: sore throat, fever
  • Vesicles in the mouth and on the palms and soles of the feet
• Rubella starts on the face and then generalised
• Measles starts behind the ears and the generalised
• Roseola HHV6 mostly affects the trunk
• VZV HHV3 may start maculopapular and then vesicles
• EBV HHV4 can cause a rash if a person is given amoxicillin during an infection (less likely in young children as they have mostly T-cell response as opposed to B-cells which are infected by EBV