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
2
Q
What class of bacteria is GBS
A
gram-positive
coccus
3
Q
How can a neonate be infected?
A
ascending infection via chorioamnionitis,
perinatally via direct contact in the birth canal
haematogenous spread
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.
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
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)
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.
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
9
Q
How is EONS managed?
A
IV benzylpenicillin with gentamicin empirically
7 days if cultures +ve
14 days if LP +ve
10
Q
What percentage of women carry GBS in their genital tract?
A
25%
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
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)
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.
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
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)
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
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
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
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
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
21
Q
What are the risks of neonatal jaundice
A
bilirubin crosses BBB
deposited in basal ganglia
= kernictus
causes bilirubin encephalopathy
22
Q
What are the signs of kernictus
A
irritability
high pitched cry
coma
23
Q
What are the long term consequences of kernictus
A
deafness
cerebral palsy
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.
25
What percentage or prem and term neonates develop jaundice
60% of term neonates develop jaundice and 80% of preterm neonates develop jaundice
26
What gestation is classed as premature
<37 weeks
27
How are extreme, very and moderate to late preterm classified
Extreme preterm: before 28 weeks
Very preterm: 28 to 32 weeks
Moderate to late preterm: 32 to 37 weeks
28
What are the risk factors for prematurity
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
29
What baseline blood tests need to be done in a premature baby and why?
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
30
What scans might be needed in a premature baby and why?
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.
31
Why are steroids given antenatally in premature babies
surfactant production
| reduces risk of intraventricular haemorrhage and death
32
What are the guidelines for resuscitation of extreme preterm infants
<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.
33
What drug can be given antenatally to give neuroprotection in preterm babies?
magnesium sulphate
34
What causes necrotising enterocolitis
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
35
How does necrotising enterocolitis present?
abdominal distension
bile-stained vomiting,
bloody diarrhoea
collapse
36
How is necrotising colitis managed?
```
stopping feeds TPN
antibiotic therapy
fluids to support circulation
surgical review
laparotomy if perforation
```
37
How is respiratory distress syndrome managed in neonates
Exogenous surfactant administration via endotracheal tube
endotracheal intubation and mechanical ventilation,
Bilevel positive airway pressure,
continuous positive airway pressure,
high flow oxygen,
38
What are the signs of respiratory distress syndrome in the neonate
tachypnoea,
intercostal recession,
expiratory grunting
cyanosis
39
What is seen on CXR in respiratory distress syndrome in neonates
'ground-glass' appearance
| indistinct heart border
40
What are the long term consequences of prematurity
neurodevelopmental Impairment:
- gross motor delay,
- fine motor impairment,
- speech and language delay,
- learning and behavioural difficulties
41
What are the domains of child development
```
gross motor
fine motor
speech and language
social
vision and hearing
```
42
Describe the gross motor development of a typical newborn
flexed when prone
| head lag
43
Describe the gross motor development of a typical 6 week old
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.
44
Describe the gross motor development of a typical three month old
can hold head at 90° in ventral suspension
45
Describe the gross motor development of a typical 6 month old
no head lag when pulled to sit.
Can sit with support.
When lying face down, can lift up on forearms.
46
Describe the gross motor development of a typical 9 month old
gets into sitting position alone.
Sits unsupported and can pivot.
Crawls.
pulls to standing and stands holding on.(10m)
47
Describe the gross motor development of a typical 12 month old
stands and walks with one hand held.
May stand alone briefly.
May walk alone.
48
Describe the gross motor development of a typical 18 month old
walks well.
Climbs stairs holding rail.
Runs.
Seats self in chair.
49
Describe the gross motor development of a typical 2 year old
goes up and down stairs alone, two feet per step.
| Kicks a ball.
50
Describe the gross motor development of a typical 3 year old
```
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
```
51
Describe the gross motor development of a typical four year old
tiptoes
| runs up and down stairs
52
Describe the gross motor development of a typical five year old
hops
heel toe walking
catches ball
bike
53
Describe typical fine motor development in terms of grasp and manipulation of an object
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
54
Describe typical fine motor development in terms of play with bricks
```
12m - gives you a brick
15m - builds 2 brick tower
18m - 3 brick tower
2y - 6 brick tower
3y - bridge
4y - steps
```
55
Describe typical fine motor development in terms of drawing
```
18m - scribble
2y - horizontal/vertical line
3y - circle
4y - cross, square
5y - triangle
```
56
Describe the typical stages of speech and language development
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.
57
Describe the typical stages of social development
```
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
```
58
At what age can a child fix their eyes on a face
6 weeks
59
At what age can a child smile in response
6 weeks
60
At what age can a child sit unsupported
At what age should they definitely be able to do this by?
6-7months
12m
61
At what age can a child say a sentence of 2 or 3 words
2y
62
At what age can a child feed themselves with a spoon
18m
63
At what age can a child get themselves into a sitting position
9m
64
At what age can a child walk unsupported
At what age should they definitely be able to do this by?
12m
18m
65
At what age can a child build a tower of 2-3 cubes
18m
66
What are some red flags in child development
```
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
```
67
What is bronchiolitis
lower airway epithelial lining inflammation due to viral infection
causes infected cells to slough off leading to airway obstruction, hypoxia and breathlessness
68
What causes bronchiolitis
```
RSV - respiratory syncytial virus (most common)
hMPV - human metapneumovirus
adenovirus
rhinovirus
influenza
parainfuenza
```
69
At what age is bronchiolitis most common
under 2 years
| 3-6m
70
What are the risk factors for developing bronchiolitis
older siblings
going to nursery
parental smoking
overcrowding
71
What are the risk factors for severe bronchiolitis
```
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
What are the signs and symptoms needed for diagnosis of bronchiolitis
2/3 days coryzal symptoms
+ persistent cough
+ increased RR/ recession
+ wheeze/crackles
could also be fever (<39) or poor feeding
73
What questions are important to ask in a potential bronchiolitis history?
```
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
What are the differentials for bronchiolitis?
| What would make these more likely/
viral induced wheeze
infective asthma exacerbation - prev wheeze
pneumonia - temp >39, focal coarse crackles
75
What are the signs of impending respiratory failure in bronchiolitis
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
What features of bronchiolitis need emergency hospital admission (999)
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
What features of bronchiolitis require further assessment
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
How is bronchiolitis managed in the community
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
How is bronchiolitis managed in the hospital
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
What is palivizumab? and what is it used for?
monoclonal antibody against RSV
prevention of RSV and bronchiolitis in those at high risk:
- bronchopulmonary dysplasia
- congenital heart disease
- severe combined immunodeficiency syndrome
81
What is the moro reflex? How long does it last for?
Head extension or a sound causes abduction followed by adduction of the arms
Present from birth to around 3-4 months of age
82
What is the grasp reflex? How long does it last for?
Flexion of fingers when object placed in palm
| Present from birth to around 4-5 months of age
83
What is the rooting reflex? How long does it last for?
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
What is the stepping reflex? How long does it last for?
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
What increases the risk of UTIs in children?
```
<1yr
Female (<3m more common in males)
Caucasian race
Previous UTI
Voiding dysfunction
Vesicoureteral reflux (VUR)
Sexual abuse
Spinal abnormalities
Constipation
Immunosuppression
```
86
What is Vesicoureteral reflux (VUR)
reflux of urine from the bladder into the ureter
| Around 33% of infants and children who have a urinary tract infection have VUR
87
What are some features of an atypical UTI in children
```
Poor urine flow
Abdominal or bladder mass
Raised creatinine
Sepsis
Failure to respond to treatment within 48 hours
Non-E.Coli organism
```
88
What defines a recurrent UTI in children
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
When should an urgent USS be done for children with a UTI
atypical
| recurrent if <6m
90
When should an routine USS within 6 weeks be done for children with a UTI
typical if <6m
| recurrent >6m
91
What is DMSA scintigraphy and what is it used for?
Gold standard for detecting renal parenchymal defects and scarring.
Studies renal function using a radio-pharmaceutical such as technetium.
92
When should DMSA scintigraphy 4-6m after acute infection be done for children with a UTI
atypical <3y
| recurrent
93
What is MCUG? What is it used for?
micturating cystourethrogram
gold standard investigation for reflux and provides information about the urethra.
However this imaging technique is invasive and requires catheterisation
94
When should MCUG be done for children with a UTI
typical <6m if USS abnormal
atypical <6m
recurrent <6m
95
Define cerebral palsy
disorder of movement, posture or motor function
caused by permanent, non-progressive lesion/interference/abnormality
in the developing brain
96
Describe spastic cerebral palsy
| Explain the difference between hemiplegic and diplegic
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
Describe athetoid cerebral palsy
increased activity, "stormy"
| caused by damage to basal ganglia
98
Describe ataxic cerebral palsy
loss of orderly muscle coordination, ataxic gait.
| caused by damage to cerebellum
99
What are some antenatal risk factors for cerebral palsy
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
What are some perinatal risk factors for cerebral palsy
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
What are some postnatal risk factors for cerebral palsy
```
Meningitis.
Intracranial haemorrhage.
Trauma.
Infection.
Hyperbilirubinaemia.
Hypoxia.
Seizures
```
102
What features would make you consider a diagnosis of cerebral palsy
```
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
What are some associated problems in cerebral palsy?
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
How is a patient with cerebral palsy managed?
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
Who is in the MDT team for a child with cerebral palsy?
```
PT
OT
SALT
dietician
paediatrician
orthopaedic surgeon
orthotist
```
106
Defien ADHD
a persistent pattern
of inattention and/or hyperactivity-impulsivity
that interferes with functioning or development.
107
What are the five requirements needed for the features of ADHD to make a diagnosis
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
Describe inattention
wandering off task, lacking persistence, having difficulty in sustaining focus and being disorganized.
109
Describe hyperactivity
excessive motor activity when it is not appropriate
excessive fidgeting, tapping, or talkativeness.
extreme restlessness
wearing others out with their activity.
110
Describe impulsivity
hasty actions that occur in the moment without forethought and that have high potential for harm for the individual
111
What are some comorbidities of ADHD
```
ASD
RTA
anxiety
self harm
substance misuse
```
112
How many features of ADHD need to be present to make a diagnosis?
```
>= 6 of inattention for inattentive subtype
>= 6 of hyperactive/impulsive for hyperactive/impulsive subtype
>= 6 of both for combined ADHD
```
113
Give some differentials for ADHD.
| What can help to distinguish them?
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
How is ADHD managed
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
Explain the cause of CF
```
autosomal recessive
CFTR gene (cystic fibrosis transmembrane conductance regulator) affected
on chromosome 7
need both alleles to be defective to have phenotype
```
116
What does the CFTR gene do?
ATP responsive chloride channel
regulates transport of chloride over cell membrane
involved in cell surface glycoprotein composition
involved in antibacterial defences
117
What is the over arching mechanism of the problems associated with CF
reduced transport of Cl out of the cell
decreased water moves into extracellular secretions
thick, sticky mucus
118
Which organs are affected in CF
```
lungs
pancreas
biliary system
gastro
reproductive
sweat glands
```
119
How are the lungs affected in CF?
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
How is sweat affected in CF?
increased concentration of salts in sweat
leads to salty skin and increased risk of electrolyte disturbance in heat
121
How is the pancreas affected in CF?
defects in ion transport lead to dehydration of pancreatic secretions
stagnation of secretions in pancreas
steatorrhea
nutritional failure
pancreatic fibrosis and pancreatitis
122
How is the biliary system affected in CF?
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
How is the reproductive system affected in CF?
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
How is the GI system affected in CF?
low volume secretions leads to intraluminal water deficiency
meconium ileus
constipation
distal intestinal obstruction syndrome
125
Describe the screening programme for CF
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
How could CF present antenatally
amniocentesis/chorionic villus sampling
| bowel perforation or hyperecnogenic bowel on USS
127
How could CF present in a neonate
screening
prolonged jaundice
meconium ileus
late onset haemorrhagic disease of the newborn
128
Why is haemorrhagic disease of the newborn more common in CF?
caused by low vit K
vit K is a fat soluble vitamin
reduced uptake in CF
129
How could CF present in an infant or child
```
recurrent chest infection
nasal polyps/sinusitis
steatorrhoea
failure to thrive
rectal prolapse
acute pancreatitis
portal HTN
variceal haematemesis
oedema
pseudo-Bartter's syndrome
```
130
Why could a child with CF end up with oedema
pancreatic insufficiency leads to decreased absorption of proteins in diet
low protein in blood
low oncotic pressure
oedema
131
How could CF present in an adolescent or adult
```
recurrent respiratory infections
atypical asthma
bronchiectasis
portal HTN
variceal haemorrhage
infertility
heat exhaustion and electrolyte disturbance
```
132
What are some signs of CF
clubbing
cough with purulent sputum
crackles
wheeze
133
What investigations would you do in suspected CF
```
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
How does the sweat test work? What is a postitive result?
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
Hos would CF appear on lung function tests
obstructive pattern
| reduced FEV1
136
What is the most common mutation leading to CF
△F508 in the CFTR gene
137
Which pathogens are common in CF
```
Haemophilus influenzae
Staphylococcus aureus
Pseudomonas aeruginosa
Burkholderia cepacia
Escherichia coli
Klebsiella pneumoniae
```
138
Give some general principles for how CF is managed
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
Give an example of a mucoactive agent used in CF and explain how it works
rhDNase
breaks down DNA in secretions
decreases viscosity of secretions
increases clearance of sectetions
140
What can be given as an immunomodulatroy agent in CF and what benefit does this have?
azithromycin or steroids
decreases incidence of infections
decreases the need for antibiotics
increases lung function
141
When is urodeoxycholic acid given in CF and what purpose does it have?
abnormal LFTs or USS
improves bile flow, but does not alter the course of the disease
142
What are some emergencies associated with CF
massive haemoptysis
pneumothorax
haematemesis associated with varices
distal intestinal obstruction syndrome
143
What treatment should be given to a child with CF presenting with haemoptysis
IV vitamin K!!!
other blood procucts if indicated
IV tranexamic acid
IV Abx
144
What are the features of distal intestinal obstruction syndrome (DIOS)
periumbilical/RLQ pain
palpable mass in RLQ
faecal loading in RLQ on AXR
obstructive features - bilious vomiting, absolute constipation
145
What are some differentials of DIOS
```
appendicitis
volvulus
constipation
intussusception
IBD
pancreatitis
gall bladder problems
UTI
ovarian cyst
```
146
What investigations are helpful in DIOS
urine dip, obs
FBC, U+E, CRP, LFT, amylase
AXR
abdo USS
147
How is DIOS treated
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
How could distal intestinal obstructive syndrome be prevented
fluid intake
optimise pancreatic function
use stool softener
149
What is involved in an annual review of CF
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
What are some red flags in terms of speech and language development
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
State some causes of delay in motor development, and some features of these
```
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
How can you investigate a child if suspecting muscular dystophy?
creatine kinase - CK
| raised in muscular dystrophy
153
Which antenatal infections can cause developmental problems in children
CMV
rubella
toxoplasmosis
154
What are some reasons for delay in speech and language development
```
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
Describe primary speech and language delay
normal understanding, intellect, hearing, emotional relationships and articulations skills
just delay in speech
156
What is the difference between childhood apraxia of speech and dysarthria
childhood apraxia of speech = Difficulty in making the right sounds in the correct order.
Dysarthria = Motor difficulty in creating speech.
157
What are some causes of global developmental delay
```
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
What are some features of fetal alchohol syndrome
```
microcephaly
thin upper lip
flat philtrum
narrow palpebral fissures
epicanthal folds
cardiac abnormalities
```
159
What are some features of a child affected by intrauterine infections
microcephaly
| hearing and sight problems
160
Give some examples of neurocutaneous disorders
tuberous scerosis
| neurofibromatosis
161
Describe the cause and features of tuberous sclerosis
autosomal dominant
TSC1 or TSC2 gene
formation of hamartomas in organs
first signs: skin changes, epilepsy
162
What is ASD
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
What is a febrile convulsion?
```
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
Define a simple febrile seizure
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
Define a complex febrile seizure
any of the belwo features:
>15 minutes
partial/focal seizure
recur within 24 hours or same febrile illness
incomplete recovery within one hour
166
Define febrile status epilepticus
>30 minute seizure
167
What are the most common and less common causes of febrile convulsion
most common:
otitis media
viral illness
tonsilitis
```
less common:
UTI
LRTI
gastroenteritis
post immunisation
```
168
What are some differentials for a child with a febrile seizure and what would differentiate them
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
What investigations should be done in a child with a suspected febrile seizure
obs, BM
FBC, CRP, ESR, U+E, glucose, coag
blood culture, urine MCS
LP
170
What are the typical features of a febrile convulsion
lasts 3-6 mins
fever!!!
generalised tonic clonic - stiffness, twitching, jerking, eye rolling
complete recovery of consciousness within one hour
171
When might a child need immediate admisson after a febrile seizure
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
what is ITP
idiopathic/immune thrombocytopaenic purpura
low platalets
normal bone marrow
absence of any other cause of low platelets
173
What are the features of acute ITP
```
prev viral infection 2-3 weeks ago
purpura and petechiae
nosebleeds
menorrhagia
spontaneous resolution within 2 months
```
174
When does ITP become chronic
no resolution within one year
175
When might treatment be needed in ITP
if there is severe bleeding or bruising
176
How can ITP be managed
prednisolone - increases platelet numbers in 4 days if high dose, 2 weeks if low dose
IVIg
Plt transfusions if emergency
avoid contact sports
