child_health_20231205142245 Flashcards
What is a septic screen?
A group of investigations carried out routinely in febrile children.
What is included in a septic screen?
FBCCRPBlood cultureUrine testing Chest X-rayLumbar puncture
What is used to assess the risk of a febrile child under 5?
NICE traffic light risk tool
What does the CSF profile of a bacterial illness show?
Raised protein Low glucoseWCC >1000 NeutrophilsCloudy appearance
What is the immediate management of meningococcal septicaemia in the community?
Give IM benzylpenicillin
Age < 1 years - 300mg
Age 1-9 - 600mg
Aged 10 and over - 1200mg
What is the management of meningococcal septicaemia in hospital?
Age <3 months - IV cefotaxime and amoxicillin Age >3 months - IV ceftriaxone
What supportive medicines can be used for a child with meningococcal septicaemia?
Dexamethasone and dextrose
How is meningococcal infection spread?
Droplets from the nose or mouth
What is the first line prophylactic treatment of mengicoccal meningitis for close contacts?
Ciprofloxacin - single dose
How is close contact defined?
Household memberAnyone who has frequently visited the house, or shared secretions with the patient Healthcare professionals with unprotected exposure to secretions Anyone with close contact with the patient for over 8 hours e.g air travellers
What is Waterhouse-Frederichsen syndrome?
Meningococcal septicaemia with associated adrenal haemorrhage
What type of bacteria is neiserria meningitidis?
Gram negative diplococci
What are the common causes of bacterial meningitis in adults?
Neisseria meningitidis Streptococcus pneumoniae
What is the most common cause of meningococcal septicaemia in neonates?
Group B streptococcus
What are the green features of the NICE fever under 5 table?
Normal colour
Responds normally to social cues
Normal skin and eyes
Moist mucous membranes
Content/smiles
Strong cry
Stays awake or wakens quickly
No amber or red flags
What are the amber features of the NICE fever under 5 table?
Pallor Not responding normally to social cues No smile Wakens only with prolonged stimulation Decreased activityTachypnoea Sats < 95Tachycardia Dry mucuous membranes Fever > 5 days Rigors
What is Turner’s syndrome?
When a female has a single X chromosome
What is the genotype of someone with Turner’s syndrome?
45XO
What are the classic features of Turner’s syndrome?
Short stature
Webbed neck
Widely spaced nipples
Cubitus valgus - where the forearm is angled away from the body when fully extended
Late or incomplete puberty
Infertility
What are the complications associated with Turner’s syndrome?
Recurrent otitis media Recurrent UTIsCongenital heart defects - coarctation of aortaand biscuspid aortic valveHypertension ObesityDiabetesInfertility
What investigations would you perform for Turner’s syndrome?
Genetic karyotyping
What is the management of Turner’s syndrome?
Growth hormone for short statureOestrogen and progesterone to help establish secondary sexual characteristicsFertility treatment Regular monitoring and managment of complications
What is Klinefelter’s syndrome?
When a male has an additional X chromosome
What is the genotype of someone with Klinefelter syndrome?
47XXY
When does Klinefelter syndrome present?
Males typically appear normal until pubertyPuberty can also be delayed
What are the symptoms of Klinefelter syndrome?
Tall and slimGynaecomastia Small testiclesWeaker muscles ShynessReduced libido
What is the management of Klinefelter syndrome?
Testosterone injections IVF techniques Breast reduction surgery Physiotherapy, speech and language therapy, occupational therapy
What is cystic fibrosis?
A genetic condition affecting mucous glands
What is the inheritance pattern of CF?
Autosomal recessive
What gene is affected in CF?
CFTR gene (cystic fibrosis transmembrane conductance regulatory gene)
What is the most common mutation of the CFTR gene?
delta-F508
Which chromsome is the CFTR gene on?
Chromosome 7
What impact does CF have on the respiratory system?
Thick respiratory secretions due to abnormal transport of chloride ions and sodium
What impact does CF have on the pancreas?
The pancreatic duct is usually congenitally occluded resulting in pancreatic insufficiency
What impact does CF have on the GI system?
The small intestine secretes viscous mucus that can cause bowel obstruction in-utero, resulting in meconium ileus. The secretions can also cause cholestasis and neonatal jaundice
What impact does CF have on the reproductive tract?
98% of men with CF are infertile due to a congenital absence of the vas deferens
How many people are carriers of a CF mutation?
1 in 25
How does CF present in neonates?
Meconium ileus Prolonged neonatal jaundiceFailure to thrive
How does CF present in infancy?
Failure to thriveRecurrent infections Pancreatic insufficiency - steatorrhoea
How does CF present in childhood?
Nasal polyps Rectal prolapse Sinusitis
How does CF present in adolescence?
Pancreatic insufficiency - diabetes
Chronic lung disease
Liver cirrhosis
Gallstones
What is the gold standard investigation for CF?
Sweat test
What results are seen in a positive sweat test?
High chloride level
What test can be done in neonates to diagnose CF?
Newborn heelprick test
What conditions are screened for in the newborn heelprick test?
Cystic fibrosis Sickle cell anaemia Congenital hypothyroidism6 different metabolic conditions
Which bacteria commonly colonise people with CF?
Staphylococcus aureus Pseudomonas aeruginosa
What other investigations can be performed to help monitor CF?
LFTs
CXR
Cough swab/sputum sample
Glucose tolerance test
Bone profile
Spirometry
What are the management options for CF?
Patient and family education Chest clearance and physiotherapy Exercise High calorie dietCREON tablets for pancreatic insufficiency Antibiotics for chest infections BronchodilatorsProphylactic flucloxacillin
What is Patau’s syndrome?
Trisomy 13
What is Edward’s syndrome?
Trisomy 18
What is the management of Turner Syndrome?
Growth hormone Oestrogen and progesterone to establish secondary female sexual characterstics Fertility treatment
What are the associations of Klinefelter’s?
Diabetes
Anxiety
Increased risk of breast cancer
Osteoporosis
What is noonan syndrome?
A genetic disorder with a wide range of features across the body
What is the inheritance pattern of noonan syndrome?
Autosomal dominant
What is the presentation of noonan syndrome?
Short stature Broad forehead Wide space between eyes - hypertelorism Downward sloping eyes with ptosis Prominent nasolabial folds
What conditions are associated with noonan syndrome?
Congenital heart disease - pulmonary valve stenosis, hypertrophic cardiomyopathy, ASDUndescended testesLearning disabilityBleeding disordersLymphodema Increased risk of leukaemia and neuroblastoma
What is the management of noonan syndrome?
SupportiveSurgery for congenital heart disease
What is fragile X syndrome?
A genetic condition that causes a range of developmental problems
What is the inheritance pattern of fragile X syndrome?
X linked (unclear if dominant or recessive)
What is the presentation of fragile X syndrome?
Intellectual disability Long, narrow face Large ears Large testicles post pubertySocial anxietyADHD and autisum
What mutation causes fragile X syndrome?
CGG trinucleotide repeat in the FMR1 gene
What is Prader Willi syndrome?
A genetic condition caused by loss of functionality of the proximal arm of chromsome 15
What are the modes of inheritance of Prader Willi syndrome?
Deletion of the proximal arm
Inheritance of two copies of from mother
What is the presentation of Prader Willi syndrome?
Constant insatiable hungerHypotonia as an infant Learning disability Developmental delay in early childhoodMental health problems Short stature
What is the definitive diagnosis for Prader-Willi syndrome?
Genetic testing
What is the management of Prader-Willi syndrome?
Growth hormone
Dieticians - management of overeating
Education support
PTOT
What is Angelman syndrome?
A genetic condition caused by a loss of function of the UBE3A gene
What is the mode of inheritance of Angelman syndrome?
Deletion on mother’s chromosome 15Inheritance of two copies of gene from father
What is the presentation of Angelman syndrome?
Delayed development - especially speech development Happy demeanour Fascination with water AtaxiaADHDEpilepsy Dysmorphic features Fair skin, light hair and blue eyes Widely space teeth
What is the management of Angelman syndrome?
PTOT
Psychological support
Social services
Educational support
Anti-epileptics
What are the features of Patau’s syndrome?
Holoprosencephaly - failure of the two cerebral hemispheres to divide
Cleft lip and palate
Microcephaly
Polydactyly
Congenital heart disease
What are the features of Edwards syndrome?
Low set ears Small jaw (micrognathia)Overlapping 4th and 5th fingersRocked bottomed feet Congenital heart disease
What is Williams syndrome?
A deletion on chromosome 7 that results in having only one copy of the genes from this region
How does Williams syndrome occur?
A random deletion around the time of conception
What are the features of Williams syndrome?
Broad foreheadStarburst eyes (star like pattern on the iris)Flattened nasal bridgeLong philtrum Wide mouth and widely spaced teeth Mild learning disability Socialable and trusting personality
What conditions are associated with Williams syndrome?
Supravalvular aortic stenosis ADHDHypertension Hypercalcaemia
What is the management of Williams sydrome?
MDT approach Low calcium diet Echocardiograms and BP monitoring (for hypertension and stenosis)
What is Kallmann’s syndrome?
An X-linked recessive condition that delays puberty due to hypogonadotrophic hypogonadism
Why does Kallman’s syndrome cause delayed puberty?
It is thought to be due to a failure of GnRH secreting neurons migrating to the hypothalamus
What is the presentation of Kallman syndrome?
Anosmia
Delayed puberty
Hypogonadism
Normal or above average height
What hormone levels are seen in Kallman syndrome?
Low testosterone levels LH and FSH levels low
What medications can specifically be used to treat the most common CF mutation?
Lumacaftor/ivacaftor
What are the functions of lumacaftor and ivacaftor?
Lumacaftor helps the CFTR protein form and move to the surface Ivacaftor helps the CFTR protein to stay open for longer
What is nocturnal enuresis?
Bed wetting at night
When is nocturnal enuresis normal until?
Until 5 years old
What is the epidemiology of nocturnal enuresis?
More common in boysStrong family history in 2/3 of casesCommon secondary to trauma
What is primary nocturnal enuresis?
Nocturnal enuresis in a child who has never achieved urinary continence overnight
What is secondary nocturnal enuresis?
Nocturnal enuresis in a child who has previously achieved urinary continence overnight
Name 3 organic causes of secondary nocturnal enuresis.
Diabetes Constipation UTI
What investigations are used to diagnose nocturnal enuresis?
Urine dip Full history and examination Urine osmolality Renal ultrasound
How should nocturnal enuresis be explained to the child and parents?
It is very common The child should not be blamed in any way
What are the management options for nocturnal enuresis?
Star chartsNocturesis alarmTreat underlying causeLifestyle changes - drink less fluid before bed, go to the toilet before bed
What is a star chart?
A chart that rewards the behaviour of a child with a sticker or a star
What is a nocturesis alarm?
An alarm that detects water in the underwear, prompting the child to wake up and go to the toilet
What drug can be trialled in children over 7?
Synthetic ADH (DDVAP)
What is JIA?
A chronic paediatric arthritis that presents before age 16 and lasts more than 6 weeks
In which gender is JIA more common?
6 times more common in females
What is the classic presentation of systemic JIA?
Salmon pink rash Joint tenderness, swelling and rednessIntermittent fever
What is the aetiology of JIA?
Thought to be autoimmune in nature, but the exact cause is not known
What are the different subsets of JIA?
OligoarticularRhematoid factor negative Polyarticular Rheumatoid factor positive Systemic onset JIA
What investigations are helpful in diagnosing JIA?
CRP
ESR
FBC
Anti-nuclear antibodies (ANA)
Rheumatoid factor
What are the differentials of JIA?
Septic arthritisMalignancyReactive arthritisOsteomyelitisSLE
What is the first line treatment of JIA?
Methotrexate
What is the second line treatment of JIA?
Sulfasalazine
What treatment option may be considered in children who have fewer joints affected?
Intra-articular steroids
What is oligoarticular JIA?
Less than 4 joints
What is polyarticular JIA?
More than 4 joints involved
Which joints does oligoarticular JIA affect?
Large joints such as the knee and ankle
Which joints does polyarticular JIA affect?
Small joints in the hands and feet, as well as large joints
What is the pathophysiology of Down Syndrome?
Trisomy 21
What are the three genetic mechanisms responsible for trisomy 21?
Gamete non-disjunction Robertsonian translocation Mosaic
What is the most common genetic mechanism responsible for trisomy 21?
Gamete non-disjunction
What are the features of Downs syndrome?
Hypotonia Brachycephaly (small head with a flat back)Short neck Short stature Flattened face and nose Prominent epicanthic folds
What are the complications of Downs syndrome?
Learning disabilityRecurrent otitis media DeafnessVisual problems Cardiac problems HypothyroidismLeukaemia Alzheimer’s
What kinds of cardiac problems are common in patients with Downs?
ASDVSDTetraology of fallot Patient ductus arteriosus
Who is offered Downs syndrome screening in pregnancy?
Every woman
What is the first line test for Downs syndrome?
Combined test
When is testing for Downs syndrome carried out?
During 11 and 14 weeks gestation
What is involved in combined testing for Downs?
Ultrasound scan and maternal blood tests
What does ultrasound look for when screening for Downs Syndrome?
Nuchal translucency - the thickness of the back of the neck
What maternal blood test results could suggest Downs syndrome?
High beta-HCGLow PAPPA
When would further testing be performed for Downs syndrome?
When the calculated risk of Downs is greater than 1 in 150
What further tests are performed?
Amniocentesis or chorionic villus sampling
What is involved in the management of Downs?
MDT approach Regular check ups:- Thyroid checks - Echocardiogram for heart defects- Audiometry - Eye checks
What GI conditions are associated with Downs syndrome?
Hirschsprung’s Duodenal atresia
What is part of the combined test for Downs?
Nuchal translucency PAPP-A - low beta-hCG - high
When is the combined test performed?
Between 11 and 14 weeks
What is part of the quadruple test for Downs?
Nuchal translucency beta-hCG Inhibin ASerum oestriol
When is the quadruple test performed?
Between 14 and 20 weeks gestation
When can amniocentesis be performed?
15-20 weeks
When can chorionic villous sampling be performed?
11-14 weeks
What are the features of IgA vasculitis?
Purpuric non-blanching rash
Joint pain
Abdominal pain
Kidney problems
What is the epidemiology of IgA vasculitis?
Male sexAge 2-10Previous upper respiratory tract infection
What are the differentials of IgA vasculitis?
Meningococcal septicaemia Thrombotic thrombocytopenic purpuraKawasaki diseaseGranulomatosis with polyangiitisSLERheumatoid arthritis
How is IgA vasculitis investigated?
Urinalysis Skin or renal biopsyBlood pressureBlood creatinine Abdominal or renal ultrasound
What is the aetiology of IgA vasculitis?
IgA is deposited in the small vessels, which become inflamed and leak blood
What is the treatment of IgA vasculitis?
Disease is usually self limitingCorticosteroids can be given to prevent kidney damage
What supportive treatments can be given in IgA vasculitis?
NSAIDs for joint painCorticosteroids for kidney damage
What other medications can be considered for kidney protection?
ACE inhibitor Immunosuppressants
What is the main complication of IgA vasculitis?
Reduced renal function
What is Kawasaki Disease?
A disease of unknown cause that results in inflammation of small to medium vessels
What is the epidemiology of Kawasaki Disease?
Kawasaki disease is mostly seen in children under 5 years
What are the differential diagnoses of Kawasaki disease?
Streptococcal infection Staphylococcal infection Scarlet feverRheumatic feverToxic shock syndrome
What criteria is used to diagnose Kawasaki disease?
Fever for more than 5 days plus 4 out of the 5 following criteria:
- Changes to extremities
- - Rash
- - Cervial lymphadenopathy
- - Non-exudative conjunctivitis
- - Lip and mouth changes
What is the first line management of Kawasaki disease?
IVIg within 10 days of presentation High dose aspirin
What other medications may be considered in Kawasaki disease?
CoricosteroidsInfliximab
What investigations are used to diagnose Kawasaki disease?
FBCESRCRPEcho
What are the complications of Kawasaki disease?
PericarditisMyocarditisCoronary aneurysm
How does DKA present?
PolyuriaPolydipsiaDehydration Weight lossNausea and vomiting Acetone smell to breath Altered consciousness
How would you initially manage a patient presenting with DKA?
ABCDEHigh flow oxygen IV fluids Observations
What investigations are used to diagnose DKA?
Blood glucose and ketones Venous blood gasU&E
What fluid would you give immediately to a patient in DKA?
10ml/kg 0.9% sodium chloride solution over 1 hour
What fluid would you immediately give to a patient in DKA with shock?
20ml/kg 0.9% sodium chloride solution over 15 minutes
What fluids are given over 48 hours to a patient in DKA?
Immediate fluid resuscitation Fluid replacement for dehydration Maintenance fluid
What electrolyte should be given with fluids in DKA?
Potassium
How should insulin be used in DKA?
Insulin should be given at a rate of 0.1 units/kg/hour in children
What are the fasting, pre-meal and post-meal glucose targets in children?
Fasting- 4-7 mmol/LPre-meal - 4-7 mmol/LPost-meal - 5-9 mmol/L
Why is potassium given in DKA?
Insulin drives potassium into cells, so potassium is given to prevent hypokalaemia
What two other conditions are children screened for when diabetes is suspected?
Coeliac diseaseThyroid disease
What are the criteria for diagnosis of DKA?
Hyperglycaemia > 11mmol/LKetosis > 3mmol/LAcidosis - pH < 7.3
What is the main complication of DKA?
Cerebral oedema
What electrolye abnormalities would be seen in an adrenal crisis?
Low sodiumHigh potassium
What is the pathophysiology of CAH?
21-hydroxylase deficiency leads to high androgens, but low cortisol and aldosterone
What blood gas picture can an adrenal crisis cause?
Metabolic acidosis
What is the acute treatment of an adrenal crisis in CAH?
High dose hydrocortisone DextroseSodium chlorideIV fluids
Why is dextrose given in an adrenal crisis?
Blood sugar will be low in an adrenal crisis
How do boys present with CAH?
Boys often present with an adrenal crisis shortly after birth
How do girls present with CAH?
Girls typically present at birth with virilised genitalia
What symptoms may girls present with in puberty?
Excess hair growth Tall for their ageDeep voiceEarly pubertyAbsent periods
Is antenatal treatment for CAH possible?
Treatment with dexamethasone is possible in mothers carrying girls. Dexamethasone is started in all mothers suspected of carrying a girl with CAH, and is continued until term if the fetus is a girl
What is the treatment of CAH?
HydrocortisoneFludrocortisone
What happens to the treatment of CAH when the patient is ill?
SIck day rules apply and steroids need to be increased
What is croup?
Croup is inflammation of the upper respiratory tract following a viral illness
What is stridor?
High pitched turbulant sounds that occurs when a child inhales
What is stridor indicative of?
An upper respiratory tract narrowing or obstruction
What is wheeze?
A high pitched turbulant noise that occurs when a child exhales
What is a wheeze indicative of?
A narrowing or obstruction in the lower airway (lungs)
What are the differential diagnoses of croup?
EpiglottitisTonsilitisAnaphylaxis Inhaled foreign body Congenital defects of the upper airway
What are the classic signs of croup?
Coryza in the preceding days
Stridor
Hoarse voice
Fever
What is the most common causative organism of croup?
Parainfluenza virus
At what age is croup common?
Between ages 6 months to 3 years
At what age is croup most prevalent?
2 years
At what time of year is croup most common?
Autumn/early winter
What is the first line treatment of croup?
Oral dexamethasone
What is the second line treatment of croup?
Nebulised adrenaline
What condition may be diagnosed if the symptoms don’t improve with treatment for croup?
Bacterial tracheitis
What is the treatment of bacterial tracheitis?
IV antibiotics
What bacteria typically causes bacterial tracheitis?
Staphylococcus aureus
What sign may be seen on CXR in croup?
Steeple sign - narrowing of the subglottis
What is cerebral palsy?
A group of permenant movement disorders caused by damage to the motor control area of the CNS
How does cerebral palsy progress?
Cerebral palsy is non-progressive
What are the antenatal causes of cerebral palsy?
Hypoxic-ischaemic encephalopathy Infection
What are the post-natal causes of cerebral palsy?
MeningitisTrauma HaemorrhageMedication toxicityNeonatal jaundice
What are the categories of cerebral palsy?
SpasticAthetoid/dyskineticAtaxic
What is the most common category of cerebral palsy?
Spastic
What are the features of spastic cerebral palsy?
Increased tone and reflexesClasp-knife responseFlexed hip and elbowsScissor gait
WWhat is the clasp-knife response?
Initial resistance when performing passive movement, then a decrease in resistance
Where is the damage to the brain in spastic cerebral palsy?
Pyramidal pathways - upper motor neurones
Where is the damage to the brain in dyskinetic cerebral palsy?
Basal ganglia pathways
Where is the damage to the brain in ataxic cerebral palsy?
Cerebellar pathways