Paeds Flashcards

1
Q

What is the most common cause of early onset neonatal sepsis?

A

group B streptococcus (GBS)

also:
E- coli, 
Coagulase-negative Staphylococcus, 
H influenzae 
Listeria monocytogenes
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2
Q

What class of bacteria is GBS

A

gram-positive

coccus

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3
Q

How can a neonate be infected?

A

ascending infection via chorioamnionitis,
perinatally via direct contact in the birth canal
haematogenous spread

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4
Q

When is prophylaxis given for GBS

A
GBS  infection  (e.g.  a  UTI)  or  a  positive  high  vaginal swab  in  this  pregnancy  
or  a  previously  affected  child  with  GBS  sepsis.
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5
Q

What are the red flag indicators and signs of early onset neonatal infection?

A

Parenteral antibiotic treatment given to the woman for confirmed or suspected invasive bacterial infection (such as septicaemia) at any time during labour, or in the 24-hour periods before and after the birth

Suspected or confirmed infection in another baby in the case of a multiple pregnancy

Resp distress >4hours after birth

Seizures

Need for mechanical ventilation in a term baby

Signs of shock

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6
Q

What are the risk factors for early onset neonatal sepsis?

A

Invasive group B streptococcal infection in a previous baby
Maternal group B streptococcal colonisation, bacteriuria or infection in the current pregnancy
Intrapartum fever higher than 38°C, or confirmed or suspected chorioamnionitis

Preterm birth following spontaneous labour (before 37 weeks’ gestation)
Prelabour rupture of membranes
Suspected or confirmed rupture of membranes for more than 18 hours in a preterm birth

Parenteral antibiotic treatment given to the woman for confirmed or suspected invasive bacterial infection (such as septicaemia) at any time during labour, or in the 24-hour periods before and after the birth (Red Flag)
Suspected or confirmed infection in another baby in the case of a multiple pregnancy (Red Flag)

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7
Q

What are some differentials for EONS

A

Transient Tachypnoea of the newborn (TTN); in term babies, causes tachypnoea and increased work of breathing

Surfactant deficient lung disease / respiratory distress syndrome (RDS); especially in preterm infants can cause tachypnoea and increased work of breathing

Meconium Aspiration; can cause the baby to be born in poor condition, with respiratory distress, and may require intubation.

Haemolytic Disease of the Newborn; can present with jaundice within the first 24 hours of life.

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8
Q

How should EONS be investigated?

A

FBC, CRP, blood cultures
swabs of urine, stool etc
LP if strong suspiciono of sepsis and/or meningitis

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9
Q

How is EONS managed?

A

IV benzylpenicillin with gentamicin empirically
7 days if cultures +ve
14 days if LP +ve

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10
Q

What percentage of women carry GBS in their genital tract?

A

25%

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11
Q

What can cause feeding difficulties in the neonate?

A

neurological incoordination (e.g. Down syndrome),
severe micrognathia,
tongue-tie
cleft palate (typically milk can come down the nose).
difficulty breast feeding

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12
Q

Why is neonatal physiological jaundice common?

A

high concentration of Hb (to maximise oxygen exchange and delivery to the fetus) no longer needed, so breaks down releasing bilirubin

the immature liver is not able to conjugate the large amount of bilirubin generated from fetal red blood cells (was previously cleared by the placenta)

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13
Q

What is the time frame of physiological jaundice in the new born?

A

Starts at day 2-3, peaks day 5 and usually resolved by day 10.

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14
Q

What are the causes of jaundice in the newborn?

A

physiological:
increased RBC breakdown
immature liver

pathological:
unconjugated-
haemolytic disease of the newborn - rhesus/ABO incompatability
infection 
bruising
hypothyroid
breast milk jaundice
conjugated-
hepatitis
CF - causes cholestasis
choledocal cyst
biliary atresia - absence of intrahepatic or extrahepatic bile ducts
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15
Q

What is the difference between physiological and pathological jaundice?

A

pathological requires further investigation or treatment. occurs before 24 hours or after 14days (21 days if born pre-term)

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16
Q

What are the risk factors for pathological jaundice?

A
prematurity, low birth weight, small for dates
Previous sibling required phototherapy
Exclusively breast fed
Jaundice <24 hours
Infant of diabetic mother
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17
Q

How should a newborn be examined for jaundice?

A

with the naked eye in bright, natural light (if possible). Examine the sclera, gums and blanche the skin

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18
Q

How might a baby withpathological jaundice present?

A

jaundiced!
Drowsy - difficult to rouse, not waking for feeds, very short feeds
Neurologically - altered muscle tone, seizures-needs immediate attention

Other: signs of infection, poor urine output, abdominal mass/organomegaly, stool remains black/not changing colour

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19
Q

How should a baby with pathological jaundice be investigated?

A

transcutaenous bilirubinometer
serum bilirubin, split bilirubin, blood group, FBC, U+E, LFTs, TFTs, DCT
blood culture, urine culture, LP
liver USS

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20
Q

In what situations are TCB monitoring and serum bilirubin used?

A

(TCB) can be used in >35/40 gestation and >24 hours old for first measurement. TCB can be used for all subsequent measurements, providing the level remains <250 µmol/L and the child has not required treatment

Serum bilirubin to be measured if <35/40 gestation, <24 hours old or TCB >250 µmol/L

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21
Q

What are the risks of neonatal jaundice

A

bilirubin crosses BBB
deposited in basal ganglia
= kernictus
causes bilirubin encephalopathy

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22
Q

What are the signs of kernictus

A

irritability
high pitched cry
coma

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23
Q

What are the long term consequences of kernictus

A

deafness

cerebral palsy

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24
Q

What are the treatments of neonatal jaundice?

A

phototherapy - if libilrubin level above treatment line

exchange transfusion - via umbilical artery or vein. Indicated when there are clinical features and signs of acute bilirubin encephalopathy or the level/rate of rise of bilirubin indicates necessity based on threshold graphs. This will require admission to an intensive care bed.

IV immunoglobulin - used as adjunct to intensified phototherapy in rhesus haemolytic disease or ABO haemolytic disease.

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25
Q

What percentage or prem and term neonates develop jaundice

A

60% of term neonates develop jaundice and 80% of preterm neonates develop jaundice

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26
Q

What gestation is classed as premature

A

<37 weeks

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27
Q

How are extreme, very and moderate to late preterm classified

A

Extreme preterm: before 28 weeks
Very preterm: 28 to 32 weeks
Moderate to late preterm: 32 to 37 weeks

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28
Q

What are the risk factors for prematurity

A

Previous preterm delivery
Multiple pregnancy
Smoking and illicit drug use in pregnancy
Being under or overweight in pregnancy
Early Pregnancy (within 6 months of previous pregnancy)
Problems involving cervix, uterus or placenta, including infection
Certain chronic conditions such as diabetes and hypertension
Physical injury/trauma

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29
Q

What baseline blood tests need to be done in a premature baby and why?

A

FBC - high risk of infection, thrombocytopenia and anaemia
U+E - electrolyte and fluid balance, close monitoring of renal function
CRP - infection
ABG - assess the respiratory and metabolic state
blood culture
blood group, DAT - if need blood transfusion or develop jaundice in the first week of life

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30
Q

What scans might be needed in a premature baby and why?

A

Cranial USS - prems are at increased risk of neurological insults from haemorrhagic, ischaemic and infective factors. CrUSS is used <32 weeks to assess for any signs of intraventricular haemorrhage or ischaemic periventricular white matter damage. Shows those at risk of neurodevelopmental probelms

CXR - needed if an infant shows signs of respiratory distress (tachypnoea, oxygen dependency, increased work of breathing) or to assess the position of the endotracheal tube.

AXR - used to assess the position of the umbilical venous and umbilical arterial catheters after insertion used for parenterel nutrition and IV. AP and lateral film may be needed to assess for signs of perforation if necrotising enterocolitis suspected.

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31
Q

Why are steroids given antenatally in premature babies

A

surfactant production

reduces risk of intraventricular haemorrhage and death

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32
Q

What are the guidelines for resuscitation of extreme preterm infants

A

<23 weeks - resuscitation should not be performed

23 to 23+6 weeks - there may be a decision not to start resuscitation in the best interests of the baby, especially if parents have expressed this wish.

24 to 24+6 weeks - resuscitation should be commenced unless the baby is thought to be severely compromised. Response to initial measures should be considered before the decision is made to commence intensive care.

> =25 weeks - it is appropriate to resuscitate and start intensive care.

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33
Q

What drug can be given antenatally to give neuroprotection in preterm babies?

A

magnesium sulphate

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34
Q

What causes necrotising enterocolitis

A

there is impaired blood flow to the bowel.
Mucosal ischaemia allows gut microorganisms to penetrate the bowel wall,
causes severe haemorrhagic colitis. . Management involves stopping feeds, supporting thecirculation and antibiotics. Laparotomy is required if perforationoccurs. Complications include intestinal stricture and short bowelsyndrome

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35
Q

How does necrotising enterocolitis present?

A

abdominal distension
bile-stained vomiting,
bloody diarrhoea
collapse

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36
Q

How is necrotising colitis managed?

A
stopping feeds TPN
antibiotic therapy 
fluids to support circulation
surgical review 
laparotomy if perforation
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37
Q

How is respiratory distress syndrome managed in neonates

A

Exogenous surfactant administration via endotracheal tube
endotracheal intubation and mechanical ventilation,
Bilevel positive airway pressure,
continuous positive airway pressure,
high flow oxygen,

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38
Q

What are the signs of respiratory distress syndrome in the neonate

A

tachypnoea,
intercostal recession,
expiratory grunting
cyanosis

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39
Q

What is seen on CXR in respiratory distress syndrome in neonates

A

‘ground-glass’ appearance

indistinct heart border

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40
Q

What are the long term consequences of prematurity

A

neurodevelopmental Impairment:

  • gross motor delay,
  • fine motor impairment,
  • speech and language delay,
  • learning and behavioural difficulties
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41
Q

What are the domains of child development

A
gross motor
fine motor
speech and language
social
vision and hearing
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42
Q

Describe the gross motor development of a typical newborn

A

flexed when prone

head lag

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43
Q

Describe the gross motor development of a typical 6 week old

A

Head control developing.
In ventral suspension (when held above couch with examiner’s hand supporting the abdomen) can hold head at level of body briefly.
sits with curved back, needs support.

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44
Q

Describe the gross motor development of a typical three month old

A

can hold head at 90° in ventral suspension

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45
Q

Describe the gross motor development of a typical 6 month old

A

no head lag when pulled to sit.
Can sit with support.
When lying face down, can lift up on forearms.

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46
Q

Describe the gross motor development of a typical 9 month old

A

gets into sitting position alone.
Sits unsupported and can pivot.
Crawls.
pulls to standing and stands holding on.(10m)

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47
Q

Describe the gross motor development of a typical 12 month old

A

stands and walks with one hand held.
May stand alone briefly.
May walk alone.

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48
Q

Describe the gross motor development of a typical 18 month old

A

walks well.
Climbs stairs holding rail.
Runs.
Seats self in chair.

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49
Q

Describe the gross motor development of a typical 2 year old

A

goes up and down stairs alone, two feet per step.

Kicks a ball.

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50
Q

Describe the gross motor development of a typical 3 year old

A
jumps
climbs stairs one foot per step. 
Able to stand on one foot for a few seconds.
kicks ball
catches ball with arms outstretched
rides tricycle
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51
Q

Describe the gross motor development of a typical four year old

A

tiptoes

runs up and down stairs

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52
Q

Describe the gross motor development of a typical five year old

A

hops
heel toe walking
catches ball
bike

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53
Q

Describe typical fine motor development in terms of grasp and manipulation of an object

A

6m - palmar grasp, reaches for object
9m - immature pincer, transfers object between hands
12m - mature pincer, points to objects
2.5y - tripod grip for pencil

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54
Q

Describe typical fine motor development in terms of play with bricks

A
12m - gives you a brick
15m - builds 2 brick tower
18m - 3 brick tower
2y - 6 brick tower
3y - bridge
4y - steps
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55
Q

Describe typical fine motor development in terms of drawing

A
18m - scribble
2y - horizontal/vertical line
3y - circle
4y - cross, square
5y - triangle
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56
Q

Describe the typical stages of speech and language development

A

3m - babbles
8m - two syllable babble
12m - two or three words with meaning
18m - 10-20 words
2y - two words linked, 50 words
3y - 300 words, including names. Three- to five-word sentences, use of pronouns, starts to use plurals and past tense, begins to talk incessantly. Can identify some body parts or objects in a picture.
4y - three to six words per sentence; asks and answers questions, relates experiences, tells stories; almost all speech understood by strangers. Errors with tense are normal - eg, ‘runned’ instead of ‘ran’.
5y - six to eight words per sentence; names four colours; counts to ten.

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57
Q

Describe the typical stages of social development

A
6w - social smile
4m - laugh
6m - fear of strangers
12m- separation anxiety
15m - drinks from cup with 2 hands
18m - uses spoon
2.5y - toilet trained by day
3y - dresses self
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58
Q

At what age can a child fix their eyes on a face

A

6 weeks

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59
Q

At what age can a child smile in response

A

6 weeks

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60
Q

At what age can a child sit unsupported

At what age should they definitely be able to do this by?

A

6-7months

12m

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61
Q

At what age can a child say a sentence of 2 or 3 words

A

2y

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62
Q

At what age can a child feed themselves with a spoon

A

18m

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63
Q

At what age can a child get themselves into a sitting position

A

9m

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64
Q

At what age can a child walk unsupported

At what age should they definitely be able to do this by?

A

12m

18m

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65
Q

At what age can a child build a tower of 2-3 cubes

A

18m

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66
Q

What are some red flags in child development

A
Abnormal muscle tone (floppy or increased)
Not holding object in hand by 5 months
Poor head control or floppiness at 6 months.
Not sitting unsupported by 9 months
Not weight bearing through legs at 12m
Not walking independently by 18 months
Asymmetry of skills/early hand dominance
No speech by 18 months
Not pointing to objects/toys to share interest by 2 years
Not running at 2 years.
Not climbing stairs at 3 years.
Persistent toe walking
Any loss of skills/regression
Any new onset of fits/possible seizures
Increased muscle tone
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67
Q

What is bronchiolitis

A

lower airway epithelial lining inflammation due to viral infection
causes infected cells to slough off leading to airway obstruction, hypoxia and breathlessness

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68
Q

What causes bronchiolitis

A
RSV - respiratory syncytial virus (most common)
hMPV - human metapneumovirus
adenovirus
rhinovirus
influenza
parainfuenza
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69
Q

At what age is bronchiolitis most common

A

under 2 years

3-6m

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70
Q

What are the risk factors for developing bronchiolitis

A

older siblings
going to nursery
parental smoking
overcrowding

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71
Q

What are the risk factors for severe bronchiolitis

A
premature
low birth weight
mechanical ventilation as a neonate
<12w old
bronchopulmonary dysplasia
CF
congenital heart disease
immunocompromised
epilepsy
Neurological disease with hypotonia and pharyngeal discoordination.
Insulin-dependent diabetes
Congenital defects of the airways.
Down's syndrome
72
Q

What are the signs and symptoms needed for diagnosis of bronchiolitis

A

2/3 days coryzal symptoms
+ persistent cough
+ increased RR/ recession
+ wheeze/crackles

could also be fever (<39) or poor feeding

73
Q

What questions are important to ask in a potential bronchiolitis history?

A
any episodes of apnoea
any cyanosis?
feeding - reduced?
have you had wet nappies?
any wheeze before this episode?
any grunting, nasal flaring, marked chest recession? responding normally to social cues?
74
Q

What are the differentials for bronchiolitis?

What would make these more likely/

A

viral induced wheeze
infective asthma exacerbation - prev wheeze
pneumonia - temp >39, focal coarse crackles

75
Q

What are the signs of impending respiratory failure in bronchiolitis

A

signs of exhaustion, for example listlessness or decreased respiratory effort

recurrent apnoea - reported or observed

failure to maintain adequate oxygen saturation despite oxygen supplementation

76
Q

What features of bronchiolitis need emergency hospital admission (999)

A

apnoea (observed or reported)
child looks seriously unwell
severe respiratory distress, for example grunting, marked chest recession, or a respiratory rate of over 70 breaths/minute
central cyanosis
persistent oxygen saturation of less than 92% when breathing air

77
Q

What features of bronchiolitis require further assessment

A

RR >60
difficulty with breastfeeding or inadequate oral fluid intake (50–75% of usual volume
clinical dehydration - reduced skin turgor, delayed cap refill, reduced UO

78
Q

How is bronchiolitis managed in the community

A

maintain fluid and nutritional input
temp control - antipyretics if in distress

Safety info:
Red flags:
• worsening work of breathing (for example grunting, nasal flaring, marked chest recession)
• fluid intake is 50–75% of normal or no wet nappy for 12 hours
• apnoea or cyanosis
• exhaustion (for example, not responding normally to social cues, wakes only with prolonged stimulation)

  • that people should not smoke in the child’s home because it increases the risk of more severe symptoms in bronchiolitis
  • how to get immediate help from an appropriate professional if any red flag symptoms develop
  • arrangements for follow-up if necessary
79
Q

How is bronchiolitis managed in the hospital

A

viral swabs of throat
monitor o2 sats - give high flow oxygen if <92%
hydration status - NG/OG tube if dehydrate. consider IV fluids if does not tolerate or impending resp failure

CPAP and capillary blood gas testing if imminent resp failure

80
Q

What is palivizumab? and what is it used for?

A

monoclonal antibody against RSV
prevention of RSV and bronchiolitis in those at high risk:
- bronchopulmonary dysplasia
- congenital heart disease
- severe combined immunodeficiency syndrome

81
Q

What is the moro reflex? How long does it last for?

A

Head extension or a sound causes abduction followed by adduction of the arms
Present from birth to around 3-4 months of age

82
Q

What is the grasp reflex? How long does it last for?

A

Flexion of fingers when object placed in palm

Present from birth to around 4-5 months of age

83
Q

What is the rooting reflex? How long does it last for?

A

when the corner of the baby’s mouth is stroked or touched, the baby will turn his or her head and open his or her mouth to follow and root in the direction of the stroking.
Present from birth to around 4 months of age

84
Q

What is the stepping reflex? How long does it last for?

A

the baby appears to take steps or dance when held upright with his or her feet touching a solid surface. This reflex lasts about 2 months.

85
Q

What increases the risk of UTIs in children?

A
<1yr
Female (<3m more common in males)
Caucasian race
Previous UTI
Voiding dysfunction
Vesicoureteral reflux (VUR)
Sexual abuse
Spinal abnormalities
Constipation
Immunosuppression
86
Q

What is Vesicoureteral reflux (VUR)

A

reflux of urine from the bladder into the ureter

Around 33% of infants and children who have a urinary tract infection have VUR

87
Q

What are some features of an atypical UTI in children

A
Poor urine flow
Abdominal or bladder mass
Raised creatinine
Sepsis
Failure to respond to treatment within 48 hours
Non-E.Coli organism
88
Q

What defines a recurrent UTI in children

A

Two or more episodes of upper UTI (pyelonephritis)
One episode of upper UTI and one episode of lower UTI
Three episodes of lower UTI

89
Q

When should an urgent USS be done for children with a UTI

A

atypical

recurrent if <6m

90
Q

When should an routine USS within 6 weeks be done for children with a UTI

A

typical if <6m

recurrent >6m

91
Q

What is DMSA scintigraphy and what is it used for?

A

Gold standard for detecting renal parenchymal defects and scarring.
Studies renal function using a radio-pharmaceutical such as technetium.

92
Q

When should DMSA scintigraphy 4-6m after acute infection be done for children with a UTI

A

atypical <3y

recurrent

93
Q

What is MCUG? What is it used for?

A

micturating cystourethrogram

gold standard investigation for reflux and provides information about the urethra.
However this imaging technique is invasive and requires catheterisation

94
Q

When should MCUG be done for children with a UTI

A

typical <6m if USS abnormal
atypical <6m
recurrent <6m

95
Q

Define cerebral palsy

A

disorder of movement, posture or motor function
caused by permanent, non-progressive lesion/interference/abnormality
in the developing brain

96
Q

Describe spastic cerebral palsy

Explain the difference between hemiplegic and diplegic

A

spastic = increased tone, pathological reflexes

hemiplegic - one side of body affected. delayed walking, tiptoe gait, arm dystonic when running
diplegic - legs affected more than arms. Hip adduction present - hard to put nappy on

97
Q

Describe athetoid cerebral palsy

A

increased activity, “stormy”

caused by damage to basal ganglia

98
Q

Describe ataxic cerebral palsy

A

loss of orderly muscle coordination, ataxic gait.

caused by damage to cerebellum

99
Q

What are some antenatal risk factors for cerebral palsy

A

Preterm birth (with risk increasing with decreasing gestational age).
Congenital malformations.
Multiple births: twins, triplets, etc.
Intrauterine infections - eg, toxoplasmosis, rubella, cytomegalovirus, HIV
Chorioamnionitis.
Toxic or teratogenic agents - eg, maternal smoking, alcohol, cocaine.
Maternal respiratory tract or genitourinary infection needing treatment in hospital.
Maternal illness - eg, thyroid abnormalities and any condition leading to low birth weight

100
Q

What are some perinatal risk factors for cerebral palsy

A

low birth weight
chorioamnionitis.
Neonatal encephalopathy.
Neonatal sepsis (particularly with a birth weight below 1.5 kg).
Maternal respiratory tract or genitourinary infection treated in hospital.

101
Q

What are some postnatal risk factors for cerebral palsy

A
Meningitis.
Intracranial haemorrhage.
Trauma.
Infection.
Hyperbilirubinaemia.
Hypoxia.
Seizures
102
Q

What features would make you consider a diagnosis of cerebral palsy

A
early motor:
unusual fidgety movement, asymmetry or paucity of movement
floppiness, spasticity, dystonia
feeding difficulty
late head control or rolling

late motor:
not sitting alone by 8 months
not walking by 18 months
assymetry of hand function in <12m

103
Q

What are some associated problems in cerebral palsy?

A

learning disability
communication difficulties
emotional and behavioural difficulties
sensory difficulties - hearing and vision
pain - due to scoliosis, hip subluxation adn dislocation, spasticity, constipstion
epilepsy
swallowing difficulties causing failure to thrive
incontinence
sleep disturbance
poor saliva control causing drooling

104
Q

How is a patient with cerebral palsy managed?

A

MDT!

diazepam for discomfort and pain caused by spasticity short term, baclofen long term

Botulinum toxin A for spasticity that is impeding fine motor function, compromising care and hygiene, causing pain, disturbing sleep, impeding tolerance of other treatments (such as orthoses) or causing cosmetic concerns to the child or young person.

105
Q

Who is in the MDT team for a child with cerebral palsy?

A
PT
OT
SALT
dietician
paediatrician
orthopaedic surgeon
orthotist
106
Q

Defien ADHD

A

a persistent pattern
of inattention and/or hyperactivity-impulsivity
that interferes with functioning or development.

107
Q

What are the five requirements needed for the features of ADHD to make a diagnosis

A

present for >6 months
before 12 years of age
occurs in >=2 settings
interferes with quality of social, academic or occupational function
Do not occur exclusively during the course of a psychotic disorder and are not better explained by another mental disorder.

108
Q

Describe inattention

A

wandering off task, lacking persistence, having difficulty in sustaining focus and being disorganized.

109
Q

Describe hyperactivity

A

excessive motor activity when it is not appropriate
excessive fidgeting, tapping, or talkativeness.
extreme restlessness
wearing others out with their activity.

110
Q

Describe impulsivity

A

hasty actions that occur in the moment without forethought and that have high potential for harm for the individual

111
Q

What are some comorbidities of ADHD

A
ASD
RTA
anxiety
self harm
substance misuse
112
Q

How many features of ADHD need to be present to make a diagnosis?

A
>= 6 of inattention for inattentive subtype
>= 6 of hyperactive/impulsive for hyperactive/impulsive subtype
>= 6 of both for combined ADHD
113
Q

Give some differentials for ADHD.

What can help to distinguish them?

A

anxiety - inattention due to worry/rumination
depression - inattention due to poor concentration
personality disorder - also fear of abandonment, self harm, ambivalence
ODD - negativity, hostility, defiance
conduct disorder - violation of societal norms and rights of others
stereotypic movement disorder - fixed and repetitive movememt
specific learning disorder - only one task affected
absence seizures

114
Q

How is ADHD managed

A

lifestyle - sleep hygiene, healthy diet, exercise
assess social, familial and educational impacts
enquire about parents’ mental health
Parent training/education programme
CBT for adults
family therapy

115
Q

Explain the cause of CF

A
autosomal recessive
CFTR gene (cystic fibrosis transmembrane conductance regulator) affected
on chromosome 7
need both alleles to be defective to have phenotype
116
Q

What does the CFTR gene do?

A

ATP responsive chloride channel
regulates transport of chloride over cell membrane
involved in cell surface glycoprotein composition
involved in antibacterial defences

117
Q

What is the over arching mechanism of the problems associated with CF

A

reduced transport of Cl out of the cell
decreased water moves into extracellular secretions
thick, sticky mucus

118
Q

Which organs are affected in CF

A
lungs
pancreas
biliary system
gastro
reproductive
sweat glands
119
Q

How are the lungs affected in CF?

A

thick mucus leads to reduced mucociliary clearance
accumulation in airways
bacterial colonisation
inflammatory lung damage - mediated by IL8 and neutrophil elastase

can lead to bronchiectasis, obstruction, cor pulmonale

120
Q

How is sweat affected in CF?

A

increased concentration of salts in sweat

leads to salty skin and increased risk of electrolyte disturbance in heat

121
Q

How is the pancreas affected in CF?

A

defects in ion transport lead to dehydration of pancreatic secretions
stagnation of secretions in pancreas

steatorrhea
nutritional failure
pancreatic fibrosis and pancreatitis

122
Q

How is the biliary system affected in CF?

A

defects in ion transport lead to dehydration and concentration of bile
stagnation of secretions in bile ducts

liver damage
leads to portal HTN
variceal haemorrhage

123
Q

How is the reproductive system affected in CF?

A

males: obstructive azoospermia with sexual function that is otherwise normal; there is normal spermatogenesis but no vas deferens
females: generally normal fertility, but need genetic counselling

124
Q

How is the GI system affected in CF?

A

low volume secretions leads to intraluminal water deficiency

meconium ileus
constipation
distal intestinal obstruction syndrome

125
Q

Describe the screening programme for CF

A

Guthrie test at 5 days
test for IRT levels - high requires further investigation

IRT - immunoreactive tryptase
tryptase produced by pancreas, normally moves to bowels. in CF, the tryptase does not make it to the bowels but builds up in the blood.
therefore, high blood levels indicate CF

126
Q

How could CF present antenatally

A

amniocentesis/chorionic villus sampling

bowel perforation or hyperecnogenic bowel on USS

127
Q

How could CF present in a neonate

A

screening
prolonged jaundice
meconium ileus
late onset haemorrhagic disease of the newborn

128
Q

Why is haemorrhagic disease of the newborn more common in CF?

A

caused by low vit K

vit K is a fat soluble vitamin
reduced uptake in CF

129
Q

How could CF present in an infant or child

A
recurrent chest infection
nasal polyps/sinusitis
steatorrhoea
failure to thrive
rectal prolapse
acute pancreatitis
portal HTN
variceal haematemesis
oedema
pseudo-Bartter's syndrome
130
Q

Why could a child with CF end up with oedema

A

pancreatic insufficiency leads to decreased absorption of proteins in diet
low protein in blood
low oncotic pressure
oedema

131
Q

How could CF present in an adolescent or adult

A
recurrent respiratory infections
atypical asthma
bronchiectasis
portal HTN
variceal haemorrhage
infertility
heat exhaustion and electrolyte disturbance
132
Q

What are some signs of CF

A

clubbing
cough with purulent sputum
crackles
wheeze

133
Q

What investigations would you do in suspected CF

A
sweat test, lung function tests
FBC, U+E, LFT, vit ADEK, fasting glucose
sputum micro biology
CXR, sinus XR
CT thorax, CT head
CFTR gene testing
134
Q

How does the sweat test work? What is a postitive result?

A

Electrode soaked in pilocarpine and placed on the lower arm or leg. A small electrical current is passed through the pad to stimulate uptake for about five minutes and then removed.
A piece of filter paper is placed over the stimulated area and secured for about 30 minutes for the sweat to be absorbed. There needs to be >=100mg of sweat for the test.

> 60mmol/L Cl- in the sample is suggestive of CF.

Need 2 positive tests on two separate occasions for a diagnosis

135
Q

Hos would CF appear on lung function tests

A

obstructive pattern

reduced FEV1

136
Q

What is the most common mutation leading to CF

A

△F508 in the CFTR gene

137
Q

Which pathogens are common in CF

A
Haemophilus influenzae
Staphylococcus aureus
Pseudomonas aeruginosa
Burkholderia cepacia
Escherichia coli
Klebsiella pneumoniae
138
Q

Give some general principles for how CF is managed

A

MDT!!!

Airway clearance - physio
Infections - prophylactic antibiotics, infection control
chest - mucoactive agents, immunomodulatory agents
Nutrition - high calorie foods, supplements
Exercise
Pancreas - pancreatic enzyme replacements
liver disease - ursodeoxycholic acid
bone health - calcium, vitamin D, bisphosphonates

139
Q

Give an example of a mucoactive agent used in CF and explain how it works

A

rhDNase
breaks down DNA in secretions
decreases viscosity of secretions
increases clearance of sectetions

140
Q

What can be given as an immunomodulatroy agent in CF and what benefit does this have?

A

azithromycin or steroids

decreases incidence of infections
decreases the need for antibiotics
increases lung function

141
Q

When is urodeoxycholic acid given in CF and what purpose does it have?

A

abnormal LFTs or USS

improves bile flow, but does not alter the course of the disease

142
Q

What are some emergencies associated with CF

A

massive haemoptysis
pneumothorax
haematemesis associated with varices
distal intestinal obstruction syndrome

143
Q

What treatment should be given to a child with CF presenting with haemoptysis

A

IV vitamin K!!!
other blood procucts if indicated
IV tranexamic acid
IV Abx

144
Q

What are the features of distal intestinal obstruction syndrome (DIOS)

A

periumbilical/RLQ pain
palpable mass in RLQ
faecal loading in RLQ on AXR
obstructive features - bilious vomiting, absolute constipation

145
Q

What are some differentials of DIOS

A
appendicitis
volvulus
constipation
intussusception 
IBD
pancreatitis
gall bladder problems
UTI 
ovarian cyst
146
Q

What investigations are helpful in DIOS

A

urine dip, obs
FBC, U+E, CRP, LFT, amylase
AXR
abdo USS

147
Q

How is DIOS treated

A

mild: flui intake, dietician review, laxatives - movicol or lactulose+senna

severe (but not obstructed): gastragraffin, klean-prep

Obstruction: IV fluids, NG tube, rectal gastrograffin
surgery if all else fails

148
Q

How could distal intestinal obstructive syndrome be prevented

A

fluid intake
optimise pancreatic function
use stool softener

149
Q

What is involved in an annual review of CF

A

pulmonary assessment - o2 sats, CXR, pulmonary function tests, cultures
nutritional assessment
assess for liver disease - LFTs, hepatosplenomegaly, USS
assess for CF related diabetesif >10y - OGTT, serial glucose testing
psychological
bone health - DEXA scan

Bloods: FBC, U+E, coag, LFTs, random glucose, HbA1c, vit ADE, zinc, magnesium, copper, ferritin

150
Q

What are some red flags in terms of speech and language development

A

There is no double syllable babble at a year.
There are fewer than six words, or there is persistent drooling, at 18 months.
There are no two- to three- word sentences by 2½ years.
Speech remains unintelligible by 4 years.

151
Q

State some causes of delay in motor development, and some features of these

A
delayed onset of motor maturation - normal otherwise
cerebral palsy - hypertonia
severe learning disability - delay in other areas, dysmorphic features, hypotonia
muscular dystrophy
maternal antenatal infections
head injury
malnutrition
neglect
152
Q

How can you investigate a child if suspecting muscular dystophy?

A

creatine kinase - CK

raised in muscular dystrophy

153
Q

Which antenatal infections can cause developmental problems in children

A

CMV
rubella
toxoplasmosis

154
Q

What are some reasons for delay in speech and language development

A
primary speech and language delay
expressive language disorder
receptive language disorder
cleft lip
tongue tie
stammer
cerebral palsy
deafness
environmental deprivation and neglect
autism
selective mutism
childhood apraxia of speech
dysarthria
155
Q

Describe primary speech and language delay

A

normal understanding, intellect, hearing, emotional relationships and articulations skills
just delay in speech

156
Q

What is the difference between childhood apraxia of speech and dysarthria

A

childhood apraxia of speech = Difficulty in making the right sounds in the correct order.

Dysarthria = Motor difficulty in creating speech.

157
Q

What are some causes of global developmental delay

A
Cerebral palsy
Down's
Fragile X
Fetal alcohol syndrome
intrauterine infections
neurodegenerative disorders
neurocutaneous disorders
abuse and neglect
Congenital hypothyroid
inborn errors of metabolism
158
Q

What are some features of fetal alchohol syndrome

A
microcephaly
thin upper lip
flat philtrum
narrow palpebral fissures
epicanthal folds
cardiac abnormalities
159
Q

What are some features of a child affected by intrauterine infections

A

microcephaly

hearing and sight problems

160
Q

Give some examples of neurocutaneous disorders

A

tuberous scerosis

neurofibromatosis

161
Q

Describe the cause and features of tuberous sclerosis

A

autosomal dominant
TSC1 or TSC2 gene
formation of hamartomas in organs
first signs: skin changes, epilepsy

162
Q

What is ASD

A

persistent disorder,
present from early childhood,
which significantly limits or impairs activities of daily living
and is characterized by:
Difficulties interacting and communicating with other people.
Restricted, repetitive patterns of behaviours, interests or activities

163
Q

What is a febrile convulsion?

A
seizure
associated with fever >37.8
caused by infection or inflammation outside the CNS
in a child aged 6m-5y
who is otherwise neurologically normal
164
Q

Define a simple febrile seizure

A

lasts less than 15 minutes
tonic clonic type
do not recur within 48 hours or within the same febrile illness
absence of previous neuro problems

165
Q

Define a complex febrile seizure

A

any of the belwo features:

> 15 minutes
partial/focal seizure
recur within 24 hours or same febrile illness
incomplete recovery within one hour

166
Q

Define febrile status epilepticus

A

> 30 minute seizure

167
Q

What are the most common and less common causes of febrile convulsion

A

most common:
otitis media
viral illness
tonsilitis

less common:
UTI
LRTI
gastroenteritis
post immunisation
168
Q

What are some differentials for a child with a febrile seizure and what would differentiate them

A

meningitis - peticheal rash, neck stiffness, kernig’s sign, photophobia, bulging fontanelle, reduced level of consciousness
encephalitis - focal neuro probs, focal seizures, reduced level of consciousness
syncope
epilepsy
rigors
hypoglycaemia

169
Q

What investigations should be done in a child with a suspected febrile seizure

A

obs, BM
FBC, CRP, ESR, U+E, glucose, coag
blood culture, urine MCS
LP

170
Q

What are the typical features of a febrile convulsion

A

lasts 3-6 mins
fever!!!
generalised tonic clonic - stiffness, twitching, jerking, eye rolling
complete recovery of consciousness within one hour

171
Q

When might a child need immediate admisson after a febrile seizure

A

first febrile seizure
There is diagnostic uncertainty about the cause of the seizure.
Complex seizure
<18m
The child has no serious clinical findings but is currently taking antibiotics or has recently been taking them.
The parents are anxious and feel that they cannot cope.
The child has a suspected serious cause for the fever (for example pneumonia).

172
Q

what is ITP

A

idiopathic/immune thrombocytopaenic purpura
low platalets
normal bone marrow
absence of any other cause of low platelets

173
Q

What are the features of acute ITP

A
prev viral infection 2-3 weeks ago
purpura and petechiae
nosebleeds
menorrhagia
spontaneous resolution within 2 months
174
Q

When does ITP become chronic

A

no resolution within one year

175
Q

When might treatment be needed in ITP

A

if there is severe bleeding or bruising

176
Q

How can ITP be managed

A

prednisolone - increases platelet numbers in 4 days if high dose, 2 weeks if low dose
IVIg
Plt transfusions if emergency
avoid contact sports