Paediatrics PTS Flashcards
What are the 4 fields of development?
Gross motor
Fine motor and vision
Speech, hearing and language
Social, emotional and behavioural
What is the difference between median age and limit age for developmental milestones?
The median age is when half of a standard population of children reach that level of development
The limit age is the age a child is expected to have acquired a particular skill/reached a particular milestone
Limit age is usually 2 standard deviations from the mean
What are the median and limit ages for walking?
Median – 12 months
Limit – 18 months
How should you adjust developmental milestones for prematurity?
Age correct up to 2 years of age
For example a 9 month old baby who was born 2 months early – should only be expected to be at the developmental stage of a 7 month old
Should vaccinations also be adjusted for prematurity?
No
Vaccinations must be given according to chronological age
Babies born < 28 weeks should receive their first set of immunisations in hospital due to risk of apnoea
What are the primitive reflexes?
Moro – startle – symmetrical extension and flexion of the limbs if you suddenly lower them backwards
Grasp – grabbing and object placed in their hand
Rooting – turning head towards stimulus placed near mouth
Stepping
Positive supporting reflex (legs push up against gravity when placed)
Atonic neck reflex
When should the primitive reflexes have diminished by?
4-6 months
If they haven’t – could be a sign of cerebral palsy
When should a baby be able to sit unsupported?
6 months
When should a child be able to make a mature pincer grip?
10 months
When should a child be able to draw a line, circle, cross, square and triangle?
Line – 2 years
Circle – 3 years
Cross – 4 years
Square – 4.5 years
Triangle - <5 years
NB – these drawing skills are being able to draw without being shown how it’s done, they can copy (draw after being shown) 6 months earlier
When should a child start to express a 2-3 words in addition to mama and dada?
12 months
When should a child be able to talk in sentences?
2.5 – 3 years
At what age should a child start smiling?
6 weeks
At what age should a child be toilet trained during the day?
2 years
At what age do children start playing with someone else interactively?
3 years
BEFORE 3 YEARS – it’s normal for a child to play by themselves
After 3 years you would expect them to start sharing/interacting, so may worry if they struggle with playing with others > 3 years
When do children have their hearing checked?
Newborn hearing screening
Hearing screening when they start school
If the parents are concerned about their hearing
Up to which age is it normal to be able to see a squint in a child?
Newborns may appear to squint when looking at near objects
By 12 weeks – NO SQUINT should be present at all
When is vision screening performed?
Pre-school children
School entry
What are some causes of developmental delay?
Genetic – chromosomal abnormalities, brain malformation
Congenital hypothyroidism
Teratogenic medications during pregnancy
Infections during pregnancy
Hypoxic brain injury during birth
History of meningitis
Head trauma (accidental or non-accidental)
Brain hypoxia due to near-drowning, seizures
Unknown
What are some genetic causes of severe visual impairment?
Congenital cataracts
Albinism
Retinal dystrophy
Retinoblastoma
Define strabismus
Misalignment of the visual axes
Also known as squint
What is the most common cause of squint?
Failure to develop binocular vision due to refractive errors of the eyes
(can also be caused by cataracts, retinoblastoma and other intra-ocular problems that must be excluded)
What are the 2 divisions of squints?
Non-paralytic (concomintant, common) – usually due to refractive error, often treated by glasses but may require surgery
Paralytic (rare) – due to paralysis of the motor nerves. When rapid onset, can be sinister i.e. due to underlying SOL
What tests can be done to detect a squint?
Corneal light reflex test – shine a pen torch in the eyes, the reflection of the light should appear in the same position in both eyes. If not, there may be a squint
Cover test – cover the good eye and the squinting eye will move. Perform close (33cm) and distant (6m) as some squints are only present at once distance
What are the refractive errors seen in childhood?
Hypermetropia
Myopia
Amblyopia
What are hypermetropia and myopia, and why are they important to correct early?
Hypermetropia – long sightedness (more common)
Myopia – short sightedness (uncommon and less likely to lead to permenant visual damage)
Correct early to avoid amblyopia – irreversible damage to vision
What is amblyopia?
Also known as LAZY EYE
Potentially permanent loss of visual acuity in an eye that has not received a clear image
Usually affects one eye
What causes amblyopia?
Any interference with visual development:
Squint
Refractive errors
Ptosis
Cataract
How is amblyopia treated?
Glasses to correct any visual impairment
Patching of the ‘good’ eye to force the lazy eye to work
Early treatment is essential – after 7 years, improvement is unlikely
Considerable support given to children and parents – children do not like having the eye patched
Name some of the ways in which visual impairment can present in childhood?
Loss of red reflex (i.e. from a cataract)
White reflex in the pupil (retinoblastoma, cataract, ROP)
Not smiling responsively by 6 weeks
Lack of eye contact with parents
Random eye movements
Failure to fix and follow
Nystagmus
Squint
Photophobia
How can you treat strabismus?
Conservative – glasses, orthoptic exercises to improve control over eye muscles
Surgery:
Strengthening procedure – resection
Weakening procedure – recession of the muscle on the side the eye goes towards
Esotropia (eye pointing inwards) – strengthen lateral rectus by resection, recession of the medial rectus
Exotropia – opposite
Botox injections – paralyse the muscle that is pulling the eye in a certain direction
Describe some possible behavioural changes that may present as a result of hearing loss
Appears to daydream
Sits near the TV and turns the volume really loud
Watches the speaker’s face closely for clues
Misunderstands/slow in responding
Answers questions incorrectly
Soft/fuzzy speech
Doesn’t turn immediately when name called
Aggressive
Slowly schoolwork/grades start to get worse
What are the 2 categories of hearing loss and the underlying pathology behind them?
Conductive hearing loss – an obstruction in the ear canal preventing sound from getting through (often reversible)
Sensorineural hearing loss – nerve damage (progressive, never reversible)
What are the causes for conductive hearing loss in children?
Most common - congestion behind the eardrums (e.g. with a cold)
Glue ear
Ear wax
Middle ear infection
Perforated ear drum
Structural abnormality of the outer ear – i.e. with certain syndromes
What are some risk factors for conductive hearing loss?
Down’s syndrome
Craniofacial syndromes
Cleft palate
If you performed a test with a vibrating tuning fork in someone with conductive hearing loss, what would you find?
Better hearing through bone conduction
How do you manage conductive hearing loss?
Most are self-limiting (i.e. inner ear infection/cold)
ENT referral – insertion of grommets to help drain excess fluid out of the middle ear
Hearing aids if they have a permanent cause for the hearing loss
What are some causes of sensorineural hearing loss?
Unknown in many cases
Genetic/ syndromal
Perinatal cause – trauma, infection, hypoxia at birth
Congenital infections – rubella, CMV
Meningitis – pneumococcus can cause ossification of the cochlear
Premature babies – increased risk
If you were to perform a vibrating tuning fork test on someone with sensorineural hearing loss, what would you find?
Hearing is NOT better through bone
On audiology - hearing loss worse in the higher frequencies
How do you manage sensorineural hearing loss?
Hearing aids
Cochlear implants
Aim = raise the level of hearing so that as much speech is audible as possible
Which cases are cochlear implants reserved for?
Profound hearing loss (> 90 decibels)
High frequency
Bilateral hearing loss
Meningitis hearing loss
What are some long term effects of hearing loss?
Developmental delay – particularly in speech and language
Behavioural problems – too loud or too quiet
Impact on education
Impact on friendships and social life
Impact on emotions/psychosocial impact
Name some members of the MDT involved in child development services?
Paediatrician
Physiotherapist
Occupational therapist
SALT
Dietician
Nurses
Health visitor
Psychologist
Family therapist - for difficult cases
Social worker
Key worker
Teachers and school nurse may also be involved
What is the role of the MDT service for child development?
Help liaise between home and school and the child’s care needs
Assess the child’s functional ability and need
To provide therapy where needed
To provide psychosocial support to the family
To ensure health needs of the child are met
What is Down’s syndrome?
Trisomy 21
A chromosomal abnormality in which there are 3 copies of chromosome 21, rather than 2 copies
Leads to specific learning difficulties and dysmorphic features
What is the main risk factor for Down’s syndrome?
Increasing maternal age
What are the 3 causes/mechanisms by which Down’s syndrome can arise?
Non-Disjunction – 94%
Unbalanced Robertsonian Translocation - 4%
Gonadal mosaicism – 1% (milder phenotype)
What is non-disjunction?
An error in meosis 1
Pair of chromosome 21s fail to separate – so one gamete has 2 chromosome 21s and one has none
Fertilisation of the gamete with 2 chromosome 21 gives rise to a zygote with trisomy 21
Parental chromosomes do not need to be examined
Related to maternal age
47 chromosomes in Karyotype
What is a translocation and which chromosome is often involved in trisomy 21?
Extra copy of chromosome 21 joined onto another chromosome – usually chromosome 14
These children will have 46 chromosomes on a karyotype – but 3 copies of chromosome 21 material (it’s just that one portion of it is tacked onto chromosome 14)
Parental chromosome analysis is needed – one parent is a carrier in 25% of cases
Translocation carriers have 45 chromosomes on karyotype (one of the 21s is in the wrong place)
What are some classic appearance features seen in someone with Down’s syndrome?
Flat bridge of nose
Flat occiput
Wide space between the eyes
Small mouth and hence apparently large tongue (‘pseudo macroglossia)
Single palmar crease
Eyes slanting down and inwards
What are some medical conditions that people with Down’s syndrome are more at risk of?
Complete atrioventricular septal defect – echo needs to be performed on all down’s syndrome babies
Hypothyroidism
Duodenal atresia
Hypotonia
Later in life – Alzheimer’s disease
How is Down’s syndrome screened for antenatally?
Risk score calculated based on serum markers and nuchal translucency
Diagnostic testing can be offered if there is a high risk score – amniocentesis or chorionic villus sampling
How do you manage a child with Down’s syndrome?
Multidisciplinary team involvement
Cardiology – perform echo to look for AVSD
Endocrinology – increased risk of hypothyroidism
Childhood disability services
SALT
Physio
Special educational needs school
Liaison between school, healthcare and family imperative
What are some clinical features associated with Edward’s syndrome (trisomy 18)?
Low birthweight
Prominent occiput
Small mouth and chin
Short sternum
Flexed, overlapping fingers
Rocker-bottom feet
Cardiac and renal malformations
Microcephaly
90% die in first year
What are some clinical features of Patau syndrome (trisomy 13)?
Structural defect of brain (often single lobed)
Scalp defects
Small eyes (microphthalmia)
Cleft lip and palate
Polydactyly (too many fingers and toes)
Cardiac and renal malformations
Not compatible with life
How are Patau’s and Edward’s syndrome diagnosed?
Often antenatally - abnormalities detected on USS, risk score comes back high for trisomy
Prenatal diagnosis – amnio or CVS
Karyotype genetic analysis confirms diagnosis at birth
What is Turner’s syndrome?
A chromosomal condition in which females only inherit one copy of the X chromosome, rather than 2 copies
Should be 46, XX
Turner’s = 45, X or 45 XO
What are some clinical features of Turner’s syndrome?
Female
Short stature
Webbed neck
Infertility/primary amenorrhoea
Delayed puberty
Wide spaced nipples
What congenital heart defect is associated with Turner’s syndrome?
Coarctation of the aorta
How is Turner’s syndrome diagnosed?
Clinical suspicion
Diagnosis confirmed on karyotyping (45, XO)
How is Turner’s syndrome managed?
Growth hormone therapy
Oestrogen replacement for development of secondary sexual characteristics at the time of puberty
Infertility – can be managed with IVF
What is Klinefelter’s syndrome?
A genetic condition in which males inherit an extra copy of the X chromosome – meaning their karyotype is 47, XXY when it should be 46, XY
What are the clinical features of Kleinfelter’s syndrome?
Male
TALL stature
Infertility – most commonly presents in this way in adult life
Delayed puberty – lack of pubic hair etc.
Gynaecomastia in adolescence
How do you treat Kleinfelter’s syndrome?
Testosterone replacement
1 injection/month for life
Promotes the development of sexual characteristics
What is fragile X syndrome?
An inherited form of learning disability due to a trinucleotide repeat expansion on the X chromosome
Affects males more than females as females have protection from their other X chromosome
Females have a milder phenotype
What are the clinical features of fragile X syndrome?
”cocktail personality” – happy, bouncy children
Macrocephaly
Large ears
Learning difficulties/autism
Joint laxity
Large testes
Hypotonia
Mitral valve prolapse
How would a diagnosis of Fragile X syndrome be confirmed?
FISH testing (fluorescence in situ hybridisation) – to look at the content of the cells
What is DiGeorge syndrome?
Abnormal branchial arch development
Leading to problems with the heart, thymus and palate
What are the clinical features of DiGeorge syndrome?
CATCH 22 :
C – cardiac
A – abnormalities
T – thymus hypoplasia (T cell dysfunction 🡪 primary immune def.)
C – cleft palate
H – hypocalcaemia
22 – defect = chromosome 22 material deletion
Which types of cardiac abnormalities are seen in DiGeorge syndrome?
Truncus arteriosis
Tetralogy of Fallot
Interrupted aortic arch
Coarctation
Vascular ring around trachea 🡪 stridor
What investigations should be done in someone with suspected DiGeorge syndrome?
T-cell count
CXR – do this in any patient with recurrent infections to look for the thymus
Anyone with congenital cardiac disease – test for DiGeorge
What is Noonan’s syndrome?
They look like the boy version of Turner’s
Short stature
Webbed neck
Ptosis
Hypothyroidism
Pulmonary stenosis
Hypogonadism
What is Marfan’s syndrome?
A connective tissue disorder
Caused by fibrillin deficiency
What are some clinical features of Marfan’s syndrome?
Arachnodactyly – spider fingers
Aortic dilatation 🡪 aneurysm 🡪 dissection
Lens dislocation
Long arms and legs
High arched palate
Lax/hypermobile joints
What regular investigation is important in someone with Marfan’s syndrome?
Echocardiogram – check for dilatation of the aorta – needs fixing to prevent aortic dissection
Which type of connective tissue abnormality is associated with Ehler-Danlos syndrome?
Elastin defect
So affects collagen (skin etc.)
What are the signs and symptoms of Ehler-Danlos syndrome?
Stretchy skin
Able to touch thumb back down to the radius side of their arm
Excessive bruising (weak collagen in blood vessels)
Tissue fragility
Brain aneurysms
“cigarette paper scars” – shiny and thin scars on the skin
Poor healing
What are the types of Mendelian inheritence?
Autosomal dominant
Autosomal recessive
X-linked
Y-linked
What is the chance of inheriting an autosomal dominant condition from an affected parent?
50%
Give some examples of autosomal dominant conditions
Adult polycystic kidney disease
Familial hypercholesterolaemia
Marfan’s syndrome
Huntington’s disease
Some cancers – BRCA (ovarian, breast)
Give 3 reasons why someone may have an autosomal dominant condition but a negative family history?
Most common reason = non paternity
New mutation
Gonadal mosaicism
What is the risk of inheriting an autosomal recessive condition from 2 carrier parents?
1 in 4 (25%)
What is the risk that a sibling of a child affected with an autosomal recessive condition is a carrier?
2 in 3 carrier risk for unaffected siblings
because you TAKE AWAY the possibility of them being affected
So you are left with 3 possibilities – the 50% chance they are a carrier and the 25% chance they are not
So out of these 3 choices – they are 2x more likely to be a carrier than not – so it’s a 2 in 3 risk
THIS MAY WELL COME UP IN THE EXAM SO LEARN IT
What is the population carrier risk for CF?
1 in 25
What is a big risk factor for autosomal recessive conditions, particularly in people with an Asian origin?
Consanguineous parents
Particularly in families with many generations of consanguinity – can give the appearance of an autosomal dominant pedigree for a recessive condition
General rule for autosomal dominant vs recessive conditions
Dominant = structural protein defects
Recessive = affects metabolic pathways
What transmission patterns (i.e. male to male/male to female) would be seen in an X-linked recessive condition?
NO male to male transmission (so if you see 2 male squares shaded in 2 consecutive generations on a pedigree, it’s not X linked)
Every affected male will produce a carrier female
If the mother is a carrier:
50% sons = affected
50% daughters = carriers
Give some examples of X-linked recessive conditions?
Duchenne’s and Becker’s
Some types of albinism
Haemophilia A
Fragile X syndrome
What are the types of non-mendelian inheritance?
Multi-factorial/polygenic inheritance
Imprinting and uniparental disomy
Mitochondrial inheritance
Give an example of a disease which has multifactorial inheritance?
Combination between the pre-disposing genes and the lived environment
Spina bifida
We know that folic acid deficiency is linked to spina bifida
We also know that you have a higher risk if you had a sibling with spina bifia
Explain what imprinting and uniparental disomy is?
For most genes both copies are expressed
Some genes only are maternally or paternally expressed- this is called IMPRINTING
Prader-Willi and Angleman’s syndrome are both caused by either cytogenetic deletions of the same region of chromosome 15q or by uniparental disomy of chromosome 15 (where both copies of 15 come from the same parent)
What is the chromosomal abnormality in Prada-Willi syndrome?
Chromosome 15
Syndrome occurs when failure to inherit the active paternal gene occurs
So they either inherit 2 COPIES FROM MUM or an abnormal copy from dad
What are the clinical features of Prada-Willi syndrome?
Hypotonia (even from neonatal age)
Learning difficulties
Obesity (due to hyperphagia)
Small genitalia
What is Angelman’s syndrome?
Chromosome 15 abnormality
Failure to inherit the active maternal gene
2 COPIES FROM DAD
Or abnormal copy from mum
What are the clinical features of Angelman’s syndrome?
Severe learning difficulty
Ataxia
Broad based gait
Characteristic facial appearance
Epilepsy
“Happy puppet” – unprovoked laughing/clapping
Microcephaly
How is DNA analysis performed?
DNA PCR (polymerase chain reaction)
What are the main roles of DNA analysis in genetic counselling?
Confirmation of a clinical diagnosis
Detect female carriers for X-Linked disorders
Detect carriers in autosomal recessive disorders (e.g. siblings of CF patients)
Pre-symptomatic diagnosis of autosomal dominant disorders (e.g. Huntington’s disease)
What would you say to a parent with known Huntington’s disease if they asked you to test their child for the presence of the gene because they want to know if their child will get the disease?
Sorry this is not an option
Genetic testing for diseases in this way will not be performed on healthy children - need to wait until they are old enough to give informed consent for this procedure themselves
What is the role of a clinical geneticist?
Involved in making diagnoses
To explain the diagnosis to the family
Discuss prognosis
Discuss options available e.g. genetic testing, screening, prenatal diagnosis
Refer to appropriate specialists for management
What are the main reasons for a referral to genetic counselling?
Preconception advice for someone with a family history of a genetic disorder
Antenatal – finding out about a disorder during pregnancy
From paeds – developmental delay, dysmorphic features
Carrier testing in known family history
Adult onset conditions – advice about whether or not they should get the test if their parent had the disease
Post mortem – unexplained death to look for genetic cause
What are the congenital infections to be aware of?
TORCHS:
T - Toxoplasmosis
O – Other (HIV)
R - Rubella
C – CMV
H - HSV
S – Syphillis
Or CHRIST – CMV, HSV, rubella, Syphillis, toxoplasmosis
What treatment do you give to a pregnant lady with syphillis?
IM BenPen
What treatment do you give to a pregnant lady with toxoplasmosis?
Catch it from cat poo
Treatment – spiromycin
What are some complications of measles?
Encephalitis
Subacute sclerosing pan-encephalitis
Febrile convulsions
Giant cell pneumonia
Diarrhoea
Appendicitis
Myocarditis
What is Perthe’s disease and how does it present?
Degenerative condition of the hip jint due to avascular necrosis of the femoral head
More common in boys
Features – hip pain (which can present as knee pain!), limp, shortening of the affected leg, pain on internal and external rotation of the hip
Imaging – flattening of the femoral head
What is the classic presentation of Hirshprung’s disease?
Failure to pass meconium
Symptoms of bowel obstruction – abdominal distention, bilious vomiting
Failure to thrive/low birthweight/size
PR EXAMINATION CAUSES STOOL EJECTION
5x more common in boys
What is the definitive diagnosis for Hirschsprung’s disease?
Rectal biopsy
What complications can occur to the foetus if the mother is infected with rubella during the pregnancy?
Congenital cataracts
Congenital heart disease
Sensorineural deafness
How are these complications prevented?
MMR vaccine
If you see a pregnant lady – make sure to check she has had the MMR vaccine
What is the main complication to worry about if a pregnant woman has cytomegalovirus?
90% of babies will be normal at birth
However 5% may develop sensorineural hearing loss later in life
Are pregnancy women screened for CMV?
No
There is no vaccine and no antiviral therapy for CMV so screening is not appropriate
How is toxoplasmosis typically caught?
Eating infected meat
Contact with infected cat faeces
Pregnant women not screened
What are the consequences of infection with toxoplasmosis during pregnancy?
Most infants born are asymptomatic
Retinopathy
Cerebral calcification
Hydrocephalus
Long term neurological disabilities
What are the risks of chickenpox (varicella zoster) to the foetus during pregnancy?
< 20 weeks – risk of skin scarring and neurological damage
2 days before or 5 days after delivery – high viral load (foetus unprotected by maternal antibodies) – mortality 30%
How should a pregnancy women who has been exposed to chickenpox be treated?
VZIG (varicella zoster immunoglobulin)
Acyclovir
Is maternal syphilis screened for during pregnancy?
YES
So is HIV and hepatitis B
How is maternal syphilis treated during pregnancy and what are the long term complications for the baby?
Penicillin
If fully treated a month or more before delivery – infant doesn’t require any treatment and has a good prognosis
If any doubt of adequate maternal treatment – infant also treated with penicillin
How much is an Apgar score out of?
10
NORMAL = between 7 and 10
What factors are considered when giving an Apgar score?
Cardio
Respiratory
Colour
Reflexes
Tone
What is the purpose of the NIPE examination?
Detect congenital abnormalities not already identified at birth (e.g. heart disease, DDH)
Check for potenital problems that could arise due to family history (i.e. mum or dad)
Provide an opportunity for parents to ask questions about the baby
What are some common findings on a NIPE examination?
Congenital heart disease
Developmental dysplasia of the hip (DDH)
Talipes (club feet) – positional or true
Down’s syndrome
Cleft lip and palate
Urogenital – hypospadias, undescended testes
Spina bifida
What are some common cardiac issues affecting premature babies?
Structural heart defect
Patent ductus arteriosus
Anaemia of prematurity
What are some common respiratory problems affecting premature infants?
Surfactant deficiency 🡪 risk of respiratory distress syndrome
Chronic lung disease of prematurity (bronchopulmonary dysplasia) - more prone to pneumonia and viruses – give them palivizumab to protect against RSV
Pneumothorax
Apnoea, bradycardia and desaturation
What are some common GI problems in premature babies?
Necrotising enterocolitis – underdeveloped gut bacteria, leads to gut become swollen and pedematous and risk of perforation (red, shiny, tender abdomen on babies) – breast milk protective
Feeding problems/nutrition – slower establishment of feeding, unable to suck and swallow until 33-34 weeks so will need IV. Build feeds up slowly to reduce the risk of NEC
What are some common metabolic issues in preterm babies?
Hypoglycaemia – due to lack of glycogen stores developed
Hypocalcaemia – kidneys and parathyroid not fully developed
Electrolyte and fluid imbalance and hypothermia – excess losses through thin skin
Osteopenia of prematurity
What are some neurological problems that preterm babies are at risk of?
Long term neurological issues
Apnoea of prematurity – as the brain stem is not fully myelinated until 32-34 weeks so the pontine respiratory centre is not fully developed
Intraventricular haemorrhage – diagnose with cranial USS
What are the main infections that affect babies?
Preterm babies in general are more prone to infections
Group B strep
E.coli and other gram negatives
Fungal infections –candida
Viral infections – herpes caught from genital tract during delivery
What eye problems affect premature infants and what is thought to be the cause of this?
Retinopathy of prematurity
Occurs due to hyperoxic insult whilst the blood vessels are still developing (i.e. premie babies are given oxygen because they are struggling to breathe and this ends up damaging their eyesight)
What is normally the cause of neonatal infection < 48 hours and >72 hours?
< 48 hours – infection generally from the birth canal
> 72 hours – source of infection is usually from the environment (catheters for nutrition, tracheal tubes, skin breaking procedues e.g. drawing blood) – most commonly coagulase negative strep (epidermidis)
What are some risk factors for early onset infection in neonates?
Prolonged rupture of membranes
If mother has fever during labour or develops one shortly after birth
If the infant is pre-term
If mother is GBS+Ve or has another genital tract infection
What’s the main risk factor for developing late onset neonatal infections?
Being on ICU or NICU – possibility of exposure to pathogens and cross contamination
What are the clinical features of neonatal sepsis?
Fever/hypothermia/temperature instability
Poor feeding
Vomiting
Apnoea and bradycardia
Respiratory distress
Abdominal distention
Jaundice
Irritability
Seizures
Lethargy/drowsiness
How does Group B strep infection tend to present?
Pneumonia
Septicaemia
Occasionally meningitis
Mortality 10%
Which women are considered high risk for GBS infection and are therefore screened SELECTIVELY (i.e. not everyone is screened)?
Pre-term delivery
Previous baby with GBS infection
Prlonged rupture of membranes
Fever >38 during labour
Intrapartum antibiotics given to these high risk ladies if possible
Where can listeria monocytogenes infection be caught from?
Unpasterised milk
Soft cheese
Undercooked poultry
Can cause miscarriage, pre-term delivery and foetal infection
How to manage conjunctivitis and sticky eyes in newborns?
Common and usually only needs cleaning with water or saline
If more troublesome discharge – could be due to staph or strep infection – treat with neomycin eye ointment
Gonococcal infection – purulent discharge, 48 hours after birth, gram stain, treat with penicillin or 3rd gen cephalosporin, cleanse frequently
Chlamidya trachomatis eye infection – purulent, 1-2 weeks of age, idenfity with immunoflourescent staining, treat with oral erythromycin for 2 weeks
How should an infant born to a HBsAg positive mother be treated?
Hepatitis B vaccine shortly after birth to prevent vertical transmission
Complete vaccine course during infancy and check antibody response
What is the septic screen done for infants presenting with signs of sepsis?
Chest X ray
Urine sample
Lumbar puncture – CSF sample
Blood cultures
Full blood count
U&Es
What should your immediate action be in child presenting with signs of sepsis?
Perform a septic screen
Commence treatment without waiting for the culture results
Which antibiotics would you prescribe?
IV Broad spec and gram +ve and gram -ve cover:
Beta lactam (e.g. Amoxicillin) for gram +ve
Aminoglycoside (e.g. gentamycin) for gram –ve
If cultures negative and child clinically well after 48 hours then Abx can be stopped
Why is it important to treat jaundice in neonates?
To prevent kernicterus
This is bilirubin induced encephalopathy caused by unconjugated bilirubin being deposited in the brain
This happens because babies blood brain barriers are not well developed so allow bilirubin to cross the blood brain barrier
What may cause neonatal jaundice?
Physiological jaundice
Infection
Haemolysis/haemolytic anaemia
Metabolic disease
How common is neonatal jaundice?
60% of neonates experience it
What are the causes of jaundice starting <24 hours of age?
Congenital infection
Haemolytic disorders:
Rhesus incompatibility
ABO incompatibility
G6PD deficiency
Spherocytosis
Pyruvate deficiency
What are the causes of jaundice between 24 hours and 2 weeks of age?
Physiological
Breast milk jaundice
Infection e.g. UTI
Haemolysis e.g. G6PD deficiency, ABO compatibility
Bruising
Polycythaemia
Crigler-Najjar syndrome (rare inherited disorder which affects bilirubin metabolism)
What are the causes of jaundice at >2 weeks of age?
Unconjugated:
Physiological or breast milk jaundice
Infection (particularly UTI)
Hypothyroidism
Haemolytic anaemia (e.g. G6PD def.)
High gastrointestinal obstruction
Conjugated:
Bile duct obstruction (e.g. biliary atresia)
Neonatal hepatitis
What is physiological jaundice?
No underlying cause behind mild or moderately jaundiced babies
Bilirubin rises as the infant is adapting to transition from foetal life – babies red blood cells have a shorter lifespan (70 days) than adult (120 days), so increased blood cell destruction leads to higher amount of circulating bilirubin
Hepatic bilirubin metabolism is less efficient in the first few days of life
Can only be called physiological after other causes have been considered and ruled out
Which type of infection in particular tends to present as neonatal jaundice?
Urinary tract infection
Investigate – urine sample, blood cultures, CXR, FBC
Which type of jaundice is most worrying in neonates?
Persistent/prolonged jaundice
Most jaundice between 2 days – 3 weeks is physiological
However prolonged is more likely to be something sinister
What would the parents complain of in a jaundiced infant?
Looks slightly yellow on their skin or eyes
Often only visible when outside in the sunlight
If prolonged jaundice was caused by biliary atresia or another type of cholestasis, what other associate symptoms would there be?
Pale stools
Dark urine
Probably off feeds and general unwell in themselves
Possible itching/scratch marks on the skin
What investigations should be done on a child presenting with jaundice?
Serum bilirubin level
Transcutaneous bilirubin measurement
If suspicious of biliary atresia (i.e. prolonged jaundice, pale stools, dark urine) – ultrasound scan of the liver is the gold standard for diagnosis
What factors need to be taken into consideration when assessing a jaundiced baby?
Age of onset (prolonged is often more worrying)
Severity of jaundice
Rate of change
Gestation - preterm infants more susceptible
Clinical condition – pyrexia, hypothermic etc.
How can jaundice be treated?
Phototherapy
Blue-green (450nm wavelength)
Converts unconjugated bilirubin into harmless water-soluble pigment by photodegradation
No long term sequealae
Cover the infants eyes
Side effects – temp. instability, rash, bronze discolouration
Exchange transfusion
If bilirubin levels are too high to be treated with phototherapy
How does neonatal hypoglycaemia present?
Jitteriness
Irritability
Apnoea
Lethargy
Drowsiness
Seizures
What are some risk factors for neonatal hypoglycaemia?
Preterm infants – lack of glycogen storage
IUGR infants - lack of glycogen stores
Babies born to diabetic mothers – have hyperinsulinaemia in response to maternal hyperglycaemia
Large for dates
Polycythemia
Unwell for any reason
What precautions need to be taken in babies at risk of neonatal hypoglycaemia?
Regular blood glucose monitoring at bedside
Prevent by early and frequent milk feeding
If needs treating – IVI dextrose via central venous catheter
What is the role of a growth chart in paediatrics?
To assess whether a child’s overall height is abnormal - i.e. below the 2nd or above the 98th centile
To assess whether a child is failing to follow their growth potential – i.e. dropping below a centile line
To assess whether a child is loosing/gaining weight quickly – which could be a sign of pathology (assessed by seeing how they drop/rise above the centile lines)
How is mid-parental height calculated?
For boys – ((Dad + mum height in cm)/2) + 7
For girls – ((Dad + mum height in cm)/2) – 7
What is the first sign of puberty in girls?
Breast development (thelarche)
Usually occurs between 8.5 and 12.5 years
Menarche occurs on average 2.5 years after the start of puberty
What is the first sign of puberty in males?
Testicular enlargrment >4ml in volume (measured using a Prader Orchidometer)
Usually occurs between 10 —14 years of age
What are the normal ages of onset of puberty for girls and boys?
Girls – between 8 and 12
Boys - between 9 and 13
What is considered early puberty in boys and girls? Which are you more worried about?
Early in girls - < 8 years
Early in boys - < 9 years
More worried about early puberty in boys – most common cause is a brain tumour (e.g. pituitary adenoma)
In girls, early puberty is much more common
What is considered late puberty in boys and girls? Which is more worrying?
Girls - > 13 years
Boys - > 14 years
More worrying in girls – can be a sign of abnormal karyotype such as Turner’s or primary ovarian failure
What is the definition of short stature?
Height below the 2nd centile
What are the causes of short stature?
Familial – i.e. short parents, and they fall in the range of their mid-parental height
IUGR and extreme prematurity
Constitutional delay of growth and puberty
Endocrine – GH deficiency/panhypopituitarism, steroid excess (Cushing’s), Hypothyroidism
Syndromes – Down’s, Turner’s, Noonan’s
Chronic illness and failure to thrive
Psychosocial deprivation
Skeletal dysplasias – disproportionate limb and back length
How do you investigate a child with short stature?
Serial measurements plotted on growth chart
Calculate mid-parental height
Bone age scan – wrist X ray
FBC, U&E
Pituitary function tests (growth hormone testing)
Dexamethasone suppression test – Cushing’s syndrome
Thyroid function tests
Karyotype
Coeliac antibodies (endomysial antibodies and anti-TTG)
What is the definition of tall stature?
Height above the 98th centile
What are some causes of tall stature?
Familial – tall parents
Obesity
Syndromes – Marfan’s syndrome
Hyperthyroidism
Precocious puberty
Congenital adrenal hyperplasia
Excess growth hormone secretion – true gigantism (and then after puberty 🡪 acromegaly)
What are some causes of precocious puberty in females?
Breast development before 8 years
Usually idiopathic or familial
Can occasionally be from late presenting CAH
What are some causes of precocious puberty in males?
Secondary sexual characteristics before 9 years
Uncommon
Usually brain tumour
CAH
Gonadal tumour
How would you investigate precocious puberty?
Full history including ages that parents went into puberty
Ultrasound scan of uterus and ovaries
Boys – MRI brain
How do you treat precocious puberty?
Boys – treat underlying cause
Girls – if they are ok with it, leave them alone. If they aren’t then can give them GnRH analogues to stop the puberty progressing further until she is ready
What are some causes of delayed puberty in females?
Absence of pubertal development by 14 years
Constitutional delay (mum and sisters also started late)
Systemic disease – Crohn’s, organ failure, CF
Hypothalamic causes – stress, anorexia, excessive athletic training
What is the most common cause of delayed puberty in boys?
Absence of pubertal development by 15 years
Usually familial/constitutional delay – their dad was also a late bloomer. Can give them testosterone to kick start the process if it’s really distressing to them
Can also be due to chronic disease e.g. Crohn’s, CF, coeliac etc.
How to treat delayed puberty?
Identify and treat any underlying pathlogy
Reassure
Testosterone for boys
Oestradiol for girls
What is the role of anti-Mullerian hormone?
Produced by the sex-determining region of the Y chromosome
Role = to prevent mullerian duct from persisting and instead encourgae development of the Wolffian duct – i.e. stops the foetus from being female and instead makes it male
What is congenital adrenal hyperplasia?
A condition in which there is reduced production of cortisol (+/- aldosterone)
Most commonly due to 21 hydroxylase deficiency
The cortisol and aldosterone pre-cursors are instead converted into testosterone (which in girls causes virilisation of the external genitalia)
The reduced amount of circulating cortisol triggers a negative feedback response causing more ACTH to be released from the anterior pituitary
This then stimulates the adrenal gland to grow – hence hyperplasia
What mode of inheritance is CAH?
Autosomal recessive
What is a large risk factor for CAH?
Consanguineous parents
How does CAH present?
In female babies – ambiguous genitalia (clitoral enlargement, fusion of the labia)
In male babies – if they are “salt losers” – salt-losing adrenal crisis
VOMITING, WEIGHT LOSS, FLOPPINESS, CIRCULATORY COLLAPSE
In non salt losing male babies – precocious puberty, tall stature, large muscles
Females may also have precocious puberty (if they have not already present with ambiguous genitalia)
What would the biochemical abnormalities be in a salt-losing CAH baby?
Low plasma sodium
High plasma potassium
Metabolic acidosis
Hypoglycaemia
How do you treat a baby in a CAH salt losing crisis?
IV saline
IV dextrose
IV hydrocortisone
How is CAH treated?
Affected females – corrective surgery for the external genitalia as soon as possible
Internal genitalia should not be corrected until puberty/sexually active as they will need to use vaginal dilators to keep the passage patent
Medical treatment – lifelong hydrocortisone (glucocorticoid replacement) and in the salt-losers lifelong fludrocortisone (mineral corticoid replacement)
NaCl may also need adding before weaning
Sick day adjustment of cortisol
What investigations need to be done in babies born with ambiguous genitalia?
Determine karyotype
Adrenal and sex hormone levels
Ultrasound scan of the internal structure and gonads
Difference between glucocorticoid and mineralocorticoid?
Glucocorticoid = cortisol. Controls glucose
Mineralocorticoid = aldosterone. Controls salt, which is a mineral!
What are the advantages of breastfeeding?
Has the optimum macronutrients needed for the baby
Contains maternal antibodies to protect against infection
Free
Helps the mum lose the baby weight
“breast feeding contraception”
Helps maternal and baby bonding
Reduces the risk of NEC in preterm infants
Can help reduce risk of post-menopausal breast cancers
What are the disadvantages of breastfeeding?
Mum has to do all the feeds unless she expresses breastmilk
Unknown intake so hard to quantify what baby is eating
Breast milk jaundice
Transmission of drugs/infections from mum to baby
Can be painful for the mother
Can be upsetting if the baby doesn’t want to feed
Insufficient vitamin D and K in breastmilk – importance of introduction of solids at 6 months (for vit D) and vit K – injection at birth
Define failure to thrive
Failure to gain adequate weight or achieve adequate growth at a normal rate for age OR suboptimal weight gain in infants and toddlers
Can also be weight/growth faltering
Serial measurements on growth charts is needed for the diagnosis to be made
How can mild and severe failure to thrive be quantified/classified?
Mild = fall across 2 centile lines on growth chart
Severe = fall across 3 centile lines on growth chart
How can you differentiate a child who is constitutionally small from a child who is failing to thrive?
Consider the overall clinical picture, a normal child will have:
No symptoms – will be happy, alert, responsive, normal milestones
Parents that are also short
May have been extremely premature
What are some non-organic causes of failure to thrive?
MOST CHILDREN failing to thrive will be due to non-organic cause
Any form of socioeconomic deprivation
Maternal factors – depression, poor understanding of the baby’s needs
Poor housing
Poverty
Inadequate social support/lack of extended family
Neglect/abuse
Inadequate calorie intake (under-nutrition)
What are some organic causes of failure to thrive?
Impaired suck/swallow leading to inadequate intake – cleft palate, neuro-motor dysfunction, CP
Cardiac disease – breathlessness during feeding
Malabsorption – coeliac, CF (due to pancreas dysfunction), food intolerance, short gut syndrome
Chronic illness – renal, liver, cardiac disease
Excessive calorie loss – vomiting (GORD, pyloric stenosis), protein losing enteropathy (IBD, infections, SLE)
Increased calorie requirements – malignancy, thyrotoxicosis, CF
Chromosomal abnormalities – e.g. Down’s syndrome
How would you manage a child who is “failing to thrive”?
Full history – including social factors especially – look into their home environment and get an idea of how well the parents are coping
Examination – look for signs on examination (heart murmur, abdominal distention, cough/chestiness of CF)
Blood tests – FBC, U&E, inflammatory markers, coeliac antibodies, TFTs
Chest XR and sweat test – looking for CF in particular
How to you approach treating failure to thrive?
Increase support for the parents if inorganic cause – health visitor, primary care involvement, education about nutrition
Paediatric dietician
SALT if suck/swallow problem
If there is a chronic disease (cardiac, CF) – involve a specialist cardiac or respiratory paediatrician
Social services
Nursery placement may help
Hostpial admission may be necessary for period of assessment
If organic – identify and treat underlying cause
What is the most common surgical cause of acute abdominal pain in children?
Appendicits
UNCOMMON UNDER 3 YEARS OF AGE
What is the most common cause of intestinal obstruction in the neonatal period?
Intussusception
Usually between 2 months – 2 years
Usually occurs at the ileocecal valve
What are the causes of acute abdominal pain in children?
Acute appendicitis
Non-specific abdominal pain and mesenteric adenitis
Intussusception
Meckel’s diverticulum
Malrotation
ALWAYS THINK ABOUT MEDICAL CAUSES – lower lobe pneumonia, DKA, hepatitis, pyelonephritis
IN BOYS – check for testicular torsion and strangulated inguinal hernia
What are the symptoms of acute appendicitis?
Abdominal pain – initially central and colicky, then localising to the RIF (from localised peritoneal inflammation)
Anorexia
Vomiting (usually only a few times)
What are the signs of acute appendicitis?
Flushed face with bad breath
Low-grade fever (37.2-38 *C)
Abdominal pain aggravated by movement
Persistent tenderness with guarding in the RIF (McBurney’s point)
Rebound tenderness demonstrable on abdominal examination - sometimes this may be unimpressive but get them to cough, walk or jump and this should elicit the localised pain from peritoneal inflammation
Rovsing’s sign – LIF pressure causes RIF pain
What is the clinical presentation of non-specific abdominal pain and mesenteric adenitis?
Non-specific abdominal pain = pain which resolves in 24-48 hours
Pain less severe than appendicitis
Tenderness (and its position) variable
Often accompanied by URTI with cervical lymphadenopathy
What is the clinical presentation of intussusception?
Paroxysmal, severe, colicky pain
Child becomes pale and draws up legs during episodes of pain
Sausage shape mass often palpable in abdomen
Inconsolable crying
Passage of “redcurrant jelly stool”
Abdominal distention
Shock
Vomiting
What is the clinical presentation of Meckel’s diverticulum?
Severe rectal bleeding – neither bright red or true melena
Can present as intussusception
Can present as volvulus (bowel obstruction)
Can present as diverticulitis which mimics appendicitis
How does malrotation present?
Usually presents in first 1-3 days of life with intestinal obstruction
May present at any age with volvulus causing obstruction and ischaemic bowel
Clinical features
Bile or blood stained vomiting
Abdominal pain
Tenderness – from peritonitis or ischaemic bowel
What is the gold standard diagnosis for appendicitis?
CT scan of the abdomen
How is a definitive diagnosis of mesenteric adenitis made?
Laparotomy or laparoscopy showing normal appendix and large mesenteric lymph nodes
What is the gold standard diagnosis for intussusception?
Ultrasound scan – shows a “target sign”
Other investigations - XR abdomen – distended small bowel and no gas distally
How would you investigate suspected malrotation?
Urgent upper GI contrast study
Need to do this whenever these is blood or bile stained vomiting
How do you treat appendicitis?
Appendicetomy
How do you treat NSAP and mesenteric adenitis?
Leave alone
In some children – appendicetomy may performed if symptoms persist, at which point mesenteric adenitis can be definitively diagnosed
How do you treat intussusception?
Aggressive fluid resuscitation
Reduction via air enema – try to “blow” the telescoping portion of the bowel outwards. USS guidance during this procedure
Laparotomy if air enema doesn’t work
How do you treat Meckel’s diverticulum?
Fluid resus if needed
Surgical resecetion
How do you treat malrotation?
Urgent surgical correction
How do you define recurrent abdominal pain?
Recurrent pain, sufficient to interrupt normal activities
Lasting for at least 3 months
What are the causes of recurrent abdominal pain in paediatrics?
Gastrointestinal - IBS, constipation, non-ulcer dyspepsia, abdominal migraine, gastritis, PUD, IBD, malrotation, coeliac disease
Gynaecological – dysmenorrhoea, ovarian cysts, PID, always carry out pregnancy test if sexuall active
Liver – hepatitis
Pancreatitis
UTI
Psychosocial – bullying, abuse, stress etc.
What is the clinical presentation of IBS?
Change of bowel habit
Sensation of intra-abdominal events (bloating etc.)
Pain – often worse before and relieved by defecation
Mucousy stools
Bloating
Feeling of incomplete defecation
Constipation/diarrhoea/mixed picture
How does non-ulcer dyspepsia present?
Epigastric pain
Postprandial vomiting
Belching
Bloating
Early satiety
Heartburn
What are the symptoms of abdominal migraine?
(classic cranial migraines often associated with abdo pain along with the headaches, and in some children the abdo pain predominates)
The pain is
Midline
Paroxysmal
Associated with facial pallor
Usually family history of migraine
What are some worrying signs/symptoms that may occur alongside recurrent abdominal pain that may indicate organic disease?
Epigastric pain at night, haematemesis - duodenal ulcer
Diarrhoea, weight loss, growth failure, blood in stools – IBD
Vomiting – pancreatitis
Jaundice – liver disease
Dysuria, secondary enuresis – urinary tract infection
Vomiting and abdominal distention – malrotation
How should recurrent abdominal pain be investigated?
Guided by clinical features
Essential to do urine MC&S as UTI can cause abdo pain
Endoscopy if dyspeptic symptoms
Colonoscopy if any rectal bleeding or lower abdominal symptoms
IBS – diagnosis of exclusion
How is IBS treated?
Can talk to a dietician about possible exclusion diets to see if any particular food aggrevates symptoms
Manage stress
Antispasmodics (for the pain) – i.e. mebeverine
Anti-diarrhoea – loperamide
Laxatives if they are suffering constipation
How is non-ulcer dyspepsia treated?
If H.Pylori – needs eradicating with triple therapy
How is abdominal migraine treated?
Pizotifen – a serotonin receptor antagonist
Used as prophylaxis in children with frequent, severe symptoms
What is the definition of posseting?
Non-forceful return of small amounts of milk
Usually accompanied by wind
Occurs normally in nearly all babies
What is regurgitation?
Non-forceful return of milk
Larger, more frequent losses than possetting
Usually indicates gastro-oesophageal reflux
What is the definition of vomiting?
Forceful ejection of gastric contents
What are the causes of vomiting in infants?
Reflux (very common)
Feeding problems
Infection (gastroenteritis, whooping cought, UTI, meningitis)
Dietary protein intolerances
Intestinal obstruction (pyloric stenosis, atresia, Hirshprung’s, malrotation, intussusception etc.)
Inborn errors of metabolism
CAH
Renal failure
What are the causes of vomiting in pre-school children?
Gastroenteritis
Other infections (kidneys, septicaemia, meningitis)
Appendicitis
Intestinal obstruction (intussusception, maloration, volvulus, adhesions)
Raised ICP
Coeliac disease
Renal failure
Inborn errors of metabolism
Torsion of testis
What are the causes of vomiting in school age children/adolescents?
Gastroenteritis
Other infection – kidneys, septicaemia, meningitis
Peptic ulcers
Appendicitis
Migraine
Raised ICP
Coeliac
DKA
Alcohol/drugs
Cyclical vomiting syndrome
Bulimia
Pregnancy
Testicular torsion
What are some diagnostic clues in the vomiting infant?
Bile stained – exclude intestinal obstruction
Blood in the vomit – oesophagitis, peptic ulcer, oral/nasal bleeding, malrotation
Projectile vomiting in the first few weeks of life – exclude pyloric stenosis
Associated symptoms – CNS, GI, UT infections
Vomiting after paroxysmal cough – whooping cough (Pertussis)
Dehydration or shock – could be an obstruction – 3rd spacing 🡪 shock
Abdominal distention – exclude lower intestinal obstruction and strangulated inguinal hernia
How do you manage a vomiting infant?
VITAL SIGNS
ASSESS FOR DEHYDRATION AND SHOCK
Rehydrate and support
Find and treat underlying cause
Reflux is common in infants, but can progress to GORD. What features are associated to class it as a disease?
Faltering growth/failure to thrive
Oesophagtis +/- stricture
Apnoea
Aspiratation, wheezing, hoarseness – often comes as referrals from respiratory
IDA
Seizure like events/opsthotonos (acid causes arching of the back to adjust position)
What is the gold standard diagnosis for GORD?
pH study
What other investigations might you do for GORD?
Barium swallow and meal
Endoscopy
PPI trial
How to manage a baby with GORD?
Position of their feeds - on their left, hold them upright
Thicken feeds - gaviscon
Drugs - antacid, H2 blocker (ranitidine), PPI
Surgery – fundoplication
What is the definition of diarrhoea?
Change in the consistency of stools (loose/liquid)
And/or increase in the frequency of passing stools
Acute – less than 2 weeks
What are some causes of acute diarrhoea?
Viruses – rotavirus, norovisu, enterovirus, many more
Bacteria – C.diff, E.coli, salmonella
Parasites – giardia
Other infections – otitis media, tonsillitis
Food allergies and other diseases
What is hypernatraemia dehydration?
Complication of diarrhoea
Happens because the water loss exceeds the sodium loss
Difficult to detect – blood test shows serum sodium > 145
Unusual and serious
Irritable with doughy skin
Water shifts from intracellular to extracellular
Rehydration should be slow
What are the features of hypernatraemic dehydration?
Jittery movements
Increased muscle tone
Hyperreflexia
Convulsions
Drowsiness/coma
Doughy skin
Irritable
How do you investigate a child with diarrhoea?
Firstly – ASSESS FOR DEHYDRATION – cap refill, pinch test, sunken eyes, mucous membranes
Look for an underlying cause
How do you manage a child with acute diarrhoea?
Encourage normal diet
Assess and treat dehydration – either oral or IV/NG if severe
Supportive therapy
Treat underlying cause if possible – antibiotics, probiotics
What is the most common GI related food allergy?
Cow’s milk protein allergy
This is NON IgE mediated
How does cow’s milk protein allergy present?
Loose stool
Vomiting
Failure to thrive
Reflux
Mouth ulcers
Atopic history (eczema, asthma, hayfever)
Bloody stools
Constipation
Very rarely – anaphylaxis
How does lactose intolerance present?
Explosive watery stools
Abdominal distention
Flatulence
Audible bowel sounds
How is cow’s milk protein allergy diagnosed?
Elimination diet
How is cow’s milk protein allergy treated?
Change feeds – hydrolysed or powdered milk feeds
Hope that the child will “grow out of it” eventually
What are the main causes of malabsorption?
Small intestine disease – coeliac
Exocrine pancreatic dysfunction – i.e. in CF (absence of lipase, proteases and amylase lead to defective digestion)
Cholestatic liver disease/biliary atresia – malabsorption of fat due to lack of bile salts
Short bowel syndrome – resection due to congenital abnormalities/NEC. Nutrient, water and electrolyte malabsorption
Loss of terminal ileum function – resection, Crohn’s. absent bile acid and vitamin B12 absorption
How does malabsorption present?
Abnormal stools – difficult to flush, extremely offensive odour
Failure to thrive/poor growth
Specific nutrient deficiencies e.g. iron deficiency anaemia, B12 deficiency
What is the classic coeliac disease history?
Present in the first few years of life after introduction of gluten in cereals
Generally irritable
Abnormal stools (smelly, diarrhoea, floating)
Abdominal distention
Buttock wasting
Failure to thrive/poor growth
What investigations do you do for coeliac disease?
Antibodies – endomysial antibodies and tissue transglutaminase antibodies
Gold standard diagnosis – intestinal (jejunal) biopsy showing villous atrophy and crypt hyperplasia
How is coeliac disease treated?
Lifelong gluten free diet
Define constipation and encopresis
Constipation = painful passage of hard, infrequent stools
Encopresis = involuntary soiling
What causes constipation in young children?
Child may avoid defecating due to pain (i.e. they have a transient superficial anal fissue)
Occasionally follows – forceful potty training, use of uncomfortable toilets (on holiday/at school) or psychological family stress
How does constipation cause soiling?
Child avoids toileting due to pain
Prolonged faecal status = resorption of fluids = increase in size and constistency
Can lead to stretching of the rectum (stools withheld for a long time due to not wanting to defecate)
This leads to reduced sensation
Which can lead to overflow and soiling
What are some red flags to be aware of in a constipated child?
Delayed passage of meconium – Hirshprung’s, CF
Fever, vomiting, bloody diarrhoea
Failure to thrive
Tight empty rectum and palpable abdo mass – Hirshprung’s
Ejection of stools on PR – Hirshprung’s
Abnormal neuro examination – abdo exam in children should include SPINAL EXAMINATION due to close proximity of the rectum
What are the long term complications of constipation?
Acquired megacolon
Anal fissues
Overflow incontinence (soiling)
Behavioural problems
What are some differential diagnoses for constipation in children?
Hirschsprung’s
Anorectal malformations
Spina bifida
Neuromuscular disease
Hypothyroidism
Hypercalcaemia
Coeliac
Food allergy/intolerance
CF
Sexual abuse
Poor diet
What investigations need to be done for constipation?
Clinical diagnosis
Abdo exam – hard stools palpable
Further Ix only if organic cause suspected
How is constipation treated?
Diet, fluids, exercise
Toilet training – sit after breakfast/lunch/dinner
Star charts – simple reward scheme
Medications
Softener – lactulose
Movicol
Stimulant – senna, dulcolax
Bulking agent – fybogel
What are the pathological features of Crohn’s disease?
Affects the mouth to anus
Transmural inflammation
Discontinuous with skip lesions
GRANULOMATOUS
Rectal sparing
Fissures, fistulae, abscesses and strictures
Perianal disease
What causes Crohn’s disease?
Unkown
How does Crohn’s disease present in paediatrics?
FAILURE TO THRIVE – poor growth, delayed puberty
Abdominal pain
Diarrhoea
Rectal bleeding
Tiredness/malaise
Extra GI symptoms – fever, arthritis, uveitis
Can present identical to anorexia nervosa – important to think about this
What is the main differential diagnosis for Crohn’s?
Ulcerative colitis
How is Crohn’s investigated?
Clinical examination
Endoscopy
Histology – look for granulomas
Biochemistry – inflammatory markers
How is Crohn’s treated in paeds?
Exclusive enteral nutrition – feed them loads of milk for 7-8 weeks and they get better
Corticosteroids – prednisolone, budenoside
Aminosalicylates – sulfasalazine, mesalazine
Antibiotics
Immunomodulators – MTX, azathioprine, 6-mecaptopurine
Biologics – infliximab, adalimumab
Surgery
What are the pathological features of UC?
Affects ONLY the colon
And ONLY the mucosa
No granulomas
No skip lesions – the whole colon is affected
Ulcers
Increased risk of adenocarcinoma in adulthood
How does ulcerative colitis present in paeds?
Failure to thrive/weight loss
Rectal bleeding
Diarrhoea
Colicky pain
Extra GI – mouth ulcers, arthritis, erythema nodosum, spondylitis
What are some differential diagnoses for UC?
Crohn’s disease
Infective causes of colitis e.g. C. Diff
How is UC diagnosed?
Colonoscopy – friable membranes (bleeding), visible ulcers
How to treat ulcerative colitis?
Mild attacks – topical steroids when confined to rectum/sigmoid colon, sulfasalazine for more extensive disease
Severe disease –systemic steroids
1/3 patients – colectomy (curative)
What is the first step of asthma management?
Very low dose inhaled corticosteroid
Plus salbutamol PRN
What are the Fraser guidelines?
Used to assess if a patient who has not yet reached age is competent to consent to treatment.
Criteria:
Understands the professional’s advice
Cannot be persuaded to inform their parents
Likely to begin or continue sexual intercourse without contraception
Physical and mental health will suffer if they don’t get the contraceptive treatment
The young person’s best interests require them to receive contraceptive treatment with or without parental consent
What is the main risk factor for neonatal respiratory distress syndrome?
Prematurity
What is the main risk factor for transient tachypnoea of the newborn?
Caesarean section
What are the features of a severe asthma attack?
SpO2 < 92%
PEF 33-50%
Too breathless to talk or feed
Heart rate - >125 (>5 years), >140 (1-5 years)
Resp. rate > 30/min (> 5 years), > 40 (1-5 years)
Use of accessory neck muscles
What are the criteria for a life threatening asthma attack?
SpO2 < 92%
PEF < 33%
Silent chest
Poor respiratory effort
Agitation
Altered consciousness
Cyanosis
What causes measles?
Infection with the measles virus
Droplet infection is the method of transmission
Highly contagious
What is the main risk factor for contracting measles?
Avoidance of the MMR vaccination
What are the symptoms of measles?
PRODROMAL SYMPTOMS - CCCK:
Cough
Coryza (runny nose/cold like symptoms)
Conjunctivitis
Koplick spots (white spots on the buccal mucosa – pathognomonic)
RASH – maculopapular, spreads downwards from behind the ears to the whole of the body
Fever
Marked malaise
What are some complications of measles?
Respiratory – pneumonia, otitis media, tracheitis
Neurological – febrile convulsions, encephalitis
Diarrhoea
Hepatitis
Corneal ulceratoin
Appendicits
Myocarditis
How is measles diagnosed?
Clinical diagnosis
Can confirm with serological testing of blood or saliva
How is measles treated?
VIRAL ILLNESS so supportive treatment only (symptomatic, fluids If needed, isolate if in hospital)
Antivirals in immune compromised
School exclusion for 5 days from onset of rash
Best treatment – preventative vaccine
What are the risk factors for developing mumps?
Unvaccinated children
What are the clinical features of mumps?
Fever
Malaise
Parotitis (swollen parotid gland)
May complain of pain eating and drinking
May complain of earache
Hearing loss can occur – usually unilateral and transient
What are some complications of mumps?
Viral meningitis and encephalitis
Orchitis – reduced sperm count in males
Oophoritis
Mastitis
Arthritis
How is measles diagnosed and managed?
Clinical diagnosis
Management – symptomatic (viral illness)
School exclusion for 7 days from onset of parotitis
What time of year do you expect to see rubella virus?
Winter and spring months (could be a hint in questions)
Describe the rash seen in Rubella
Maculopapular rash starting on the face and spreading across the entire body
NOT itchy in children (but is in adults)
Rubella is a diagnosis made clinically. In which situation would you need to perform serological testing to confirm your diagnosis?
When there is a risk of exposure to non-immune pregnant lady
Congenital Rubella – cataracts and sensorineural deafness
How is rubella treated?
No effective anti-viral treatment
Usually resolves in 3-5 days
Prevention lies in immunisation
How are the human herpes viruses transmitted?
Through mucous membranes of skin
Kissing
Genital contact
Vertical transmission at birth
How do herpes simplex viruses present?
Gingiostomatitis – sores on the lips, gums, tongue and hard palate – can lead to ulceration and bleeding, common reason why child may refuse to eat or drink
Cold sores
Herpetic whitlows – in thumb suckers
Conjunctivitis and inflammation of the eyelids
CNS infection – aseptic meningitis (self-resolving), encephalitis
How is herpes simplex diagnosed and treated?
Clinical diagnosis
Acyclovir
Give during pregnancy especially to stop transmission to baby
Which infecting organism causes chickenpox and what other infection may it cause?
Varicella zoster virus
(human herpes virus 3)
May also cause shingles virus later in life – reactivation and then a rash appears in a dermatomal distribution
How is chickenpox spread?
Droplet infection via the respiratory route
Highly infectious – contagious from 2 days before the rash appears and until it disappears
Describe the rash seen in chickenpox?
Vesicular rash
Very itchy
Starts on the head and trunk and progresses to the peripheries
What is the typical prodrome of chickenpox?
High fever – 38-39*C
Usually stops when the rash appears
What are some complications of chickenpox in the immunocompromised?
Haemorrhagic lesions
Pneumonitis
Progressive and widespread infection
DIC
How is chickenpox managed?
Camomile lotion to stop the itching
Keep away from high risk individuals – i.e. don’t put them anywhere near a clinical area in which there are immune suppressed patients
How do you protect immune compromised invidiuals who have been exposed to chickenpox?
Human varicella zoster immunoglobulin (HVZIG)
(bone marrow transplant patients, congenital or aquired immune deficiency, steroids, neonates)
What are the clinical features of glandular fever and which organism causes it?
Fever
Malaise and extreme lethargy
Tonsillopharyngitis
Prominent cervical lymphadenopathy
Petechiae on soft palate
Splenomegaly
Hepatomegaly
Maculopapular rash
Jaundice
Caused by Epstein Barr virus
What investigations can be done for EBV?
Positive monospot test
Seroconversion – IgG to Epstein-Barr virus antigens
Treatment = symptomatic
What childhood rash is caused by HHV6?
Roseola infantum
Generalised macular rash which appears after the prodromal fever wanes
Common cause of febrile convulsions
What is the presentation of “slapped cheek syndrome” and which infecting organism causes it?
Most common during spring
Fever, malaise, headache, myalgia – prodromal
Characteristic cheek rash – looks like they have been slapped on the cheeks
Progresses to maculopapular rash on the trunk and limbs
Caused by parvovirus b19
What is the pathology of parvovirus B19 and which group of children is this dangerous for?
Infects the red cell precursors in the bone marrow
Can lead to aplastic crisis in children with chronic haemolytic anaemias (sickle cell, thalassaemia) and immunocompromised children
What infection is caused by coxsackie virus?
Hand, foot and mouth disease
What are the symptoms of hand, foot and mouth disease?
Painful vesicular lesions on the hands and feet
Painful ulcers in the mouth and on the tongue
Systemic features are mild
Subsides in a few days
Which ways can staph aureus cause disease?
Direct effect – abscess, cellulitis, oesteomyeltitis, impetigo, septic arthritis, septicaemia
Toxin-mediated (indirect) – TSS, food poisoning
Toxin-mediated (direct) – scalded skin syndrome
Which infecting organism causes scarlet fever?
Strep. Pyogenes (group A beta haemolytic strep)
Same bacteria that causes strep throat
