Paediatrics Flashcards
Obstructive Sleep Apnoea - define, causes, S&S, investigations & management
A syndrome of upper airway dysfunction during sleep, characterized by snoring and/or increased respiratory effort secondary to increased upper airway resistance and pharyngeal collapsibility
tonsillar hypertrophy, adenoidal hypertrophy, obesity/body habits, anatomical difficulties e.g. macroglossia, craniofacial syndromes
daytime (hyperactivity, lack of concentration, sleepiness, moody, behaviour issues) & night time (increased WOB, snoring, gasping, fidgeting, waking in the night, apnoeic episodes)
history & examination, sleep study (gold std)
lifestyle changes (w/l if appropriate), nasal corticosteroids +/- oral montelukast, CPAP or non-invasive positive pressure ventilation, adenotonsillectomy
Asthma - define, risk factors, clinical features, ix & management
DEFINITION Chronic inflammatory airway disease characterised by variable reversible airway obstruction, airway hyper-responsiveness & bronchial inflammation
Aetiology & Risk factors:
GENETIC FACTORS
• Family hx - +ve for asthma or atopy
• Links to multiple chromosomal locations - genetic heterogenicity
ENVIRONMENTAL FACTORS • Childhood paternal smoking • House dust mite • Pollen • Pets
* Viral respiratory tract infections * Spores * Occupational allergens
Presentation/Clinical Features: Symptoms • None when well • Tight chest • Wheeze • Cough (worse in am & pm) • Limitation to exercise • Dyspnoea • Night time waking
Signs • May be normal o/e • Tachypnoea • Tachycardia • Cyanosis • Wheeze & prolonged expiration • Barrel shaped chest • Diurnal variation
Differentials - acute respiratory infection, inhaled foreign body
Investigations & Diagnosis: Bedside • History & Examination • Observations; may be normal or show increased RR/HR • Peak flow
Bloods
• FBC; inc eosinophil count
• U&Es
• CRP
Imaging
• Chest Xray; if any atypical symptoms
○ May show hyperinflation, flattened hemi-diaphragms, atelectasis.
Special Tests • Peak expiratory flow monitoring ○ Diurnal variation, dip in the morning • Pulmonary function tests (Spirometry) ○ Obstructive deficit <0.75 ○ Shows >25% reversibility after B2 agonists • Allergen testing ○ Skin pricks
Diagnosis - NICE or BTS
• BTS Guidelines:
○ clinically high prob, try treatment good resp = asthma
○ If clinically intermediate prob, spiro w/ rev à tx
○ Clinically unlikely look for other causes
• NICE Guidelines: ○ Diagnosis via ‘diagnostic hub’ w/ investigations ○ 1st line; FeNO or spiro w/rev ○ 2nd line; peak flow diary or challenge testing
Management:
Options available
• Bronchodilators (B2 agonists)
○ Short acting beta agonists (SABA); salbutamol // Long acting beta agonists (LABA); salmeterol
• Inhaled corticosteroids (ICS, reduce inflammation)
○ Beclomethasone
• Oral corticosteroids
• Muscarinic
○ Short acting muscarinic antagonists (SAMA); ipratropium // Long acting muscarinic antagonists (LAMA); tiotropium
• Leukotriene receptor antagonist
○ Montelukast
BTS & NICE guidelines for long term management of asthma
BTS Guidelines
SABA (Salbutamol) –> + low dose ICS (beclomethasone) –> LABA, cont. if good response –> Oral LRA/SABA/Theo or LAMA –> Increase ICS, add options from previous step & refer–> Oral corticosteroids
NICE Guidelines
SABA–>low dose ICS–>Oral Montelukast –> LABA –> MART –> increase ICS –>Increase ICS, add theo or LAMA –> Referral
Define types of acute asthma exacerbation
Moderate; PEFR 50-75% of predicted, w/ worsening symptoms
Severe; PEFR 33-55%, RR >25, HR >110, exhaustion or decrease in respiratory effort, can’t complete sentences
Life-threatening; PEFR <33%, silent chest, paO2 <8kPa/sats <92%, normal or rising pCO2, bradycardia, hypotension or confusion
Management of acute asthma exacerbation
OSHITME
Oxygen; high flow Salbutamol (nebuliser) Hydrocortisone Ipratropium (nebuliser) Theophylline infusion MgSO4 Escalation to ITU/HDU
Cystic Fibrosis - define, aetiology, S&S, inx, management
DEFINITION Autosomal recessive inherited multi-system disease characterised by recurrent respiratory tract infections, pancreatic insufficiency, malabsorption & male infertility
Occurs in 1 in 2500 live births, in UK 1 in 25 are carriers
Aetiology
Autosomal recessive genetic disease caused by a defective CFTR gene on chromosome 7q which encodes for cAMP-dependent Cl- channel
• Channel regulated Na & Cl concentrations in exocrine secretions, esp in lung & pancreas
• Any loss of function mutations cause thick secretions
Lots of different types of mutations reported, most common is the ΔF508 (deletion of phenylalanine 508 residue) which causes a CFTR protein which is defective in its ability to traffic to the plasma membrane.
• five classes of CFTR mutations: protein production, protein processing, gating, conduction, and insufficient protein.
Pathogenesis:
Due to defective Cl ion channel there is increased reabsorption of sodium & water leading to increased viscosity of airway secretions
At birth the lungs will have normal histology but as they mature there is mucous gland hyperplasia, recurrent infections lead to fibrosis, consolidation & bronchiectasis
Presentation/Clinical Features: Lung Symptoms • Recurrent respiratory tract infections • Chronic cough • Wheeze • Increased production of sputum • Haemoptysis
Gut Symptoms • Meconium ileus (in neonates, 10-20%) • Steatorrhea • Failure to thrive • Weight loss or poor weight gain • Hepatomegaly
Investigations & Diagnosis:
Screening
• Since 2007, now tested on newborn heel prick testing on day 6
○ Testing for levels of immunoreactive trypsinogen (2-5x raised in babies w/ CF)
○ Test for common CF mutations
Specialist investigations
• Sweat test; analysed for levels of electrolytes, Cl levels are raised in CF (>60 mmol is diagnostic)
• Genetic testing; analysed for specific genetic mutation, may impact on management
• Pancreatic & lung assessments
Management: Respiratory • Regular chest physiotherapy • Bronchodilator therapy • Nebulised mucolytics • Abx prophylactics • Vaccinations
Specialist Medical & Surgical Treatment
• Drugs; ivacaftor, Lumacaftor and ivacaftor (orkambi),Trikafta
• Surgery; transplantation
Gastrointestinal
• Ensuring good nutritional intake & support
• Oral pancreatic enzyme replacement
• Vitamin (fat-soluble) supplements
• May need to consider endocrine help i.e. insulin replacement
Bronchiolitis - define, aetiology, S&S, ix & management
DEFINITION Infection & inflammation of the bronchioles, most commonly caused by respiratory syncytial virus (RSV)
Aetiology & Risk factors:
• Usually occurs in children under 2, peak incidence during autumn & spring months
• Most commonly caused by RSV
○ Other causes include infection with para- influenza, influenza, adenovirus, rhinovirus, metapneumovirus, chlamydia, and Mycoplasma pneumoniae.
• Risk of severe disease in children w/ CLD of prematurity, CHD, immunodeficiency or other lung disease
Presentation/Clinical Features:
Typical presentation: cough & coryzal symptoms followed by difficulty breathing & poor feeding
• Cough - dry
• Coryza
• Wheeze
• Feeding difficulties or reduced feeding
• Episodes of apnoea
Signs on examination: • Increased WOB - use of accessory muscles, tracheal tug, tachypnoea, head bobbing, grunting • Hypoxia • Coarse crepitations • Wheeze • Downwardly displaced liver
Investigations & Diagnosis:
• Observations; assess oxygenation
• CXR: to assess hyperinflation, atelectasis, and consolidation
• Nasopharyngeal swab: immunofluorescent antibody testing for RSV binding
Management:
Mostly supportive treatment
• Oxygen to maintain sats >92%
• If tachypnoeic limit feeds & place NGT to help with feeds
• Bronchodilators (nebulised) to help w/ wheeze
• Mechanical ventilation in severe respiratory distress or apnoea
Prophylaxis
• In some infants e.g. premature, immunodeficient, prophylaxis protection against RSV may be offered = Palivizumab
○ Monthly IM injections from October-February
Croup (laryngotracheobronchitis) - define, causes, S&S, ix & management
DEFINITION Viral laryngotracheal infection
Mucosal inflammation affecting anywhere from the nose to the lower airway that is commonly due to parainfluenza, influenza, and respiratory syncytial virus in children aged 6mths to 6yrs.
Aetiology & Risk factors:
Viral infection including: parainfluenza, influenza & RSV
Presentation/Clinical Features: • Often a prodrome of a typical cold & coryzal symptoms • ''Barking'' cough develops ○ Worse on agitation, crying etc • Fever • Increased WOB • Hoarse voice
Differentials - croup vs epiglottis
Investigations & Diagnosis:
No investigations usually needed as clinical dx, history & examination make up most part
Management:
Home vs Inpatient
• Most children will be able to be safely managed at home w/ good safety netting advice
○ Any recession or stridor at rest to re-present
○ Infants <12mths may need closer monitoring
General Management
• Moist or humidified air
○ although widely used to ease breathing the benefit of these physical measures is unproven.
• Steroids:
○ oral prednisolone (2mg/kg for 3 days) or oral dexamethasone (0.15mg/kg stat dose) or nebulized budesonide (2mg stat dose)
○ reduces the severity and duration of croup, they are also likely to reduce the need for endotracheal intubation.
• Nebulized adrenaline (epinephrine): can provide transient relief of symptoms
Epiglottis - define, aetiology, S&S, ix & management
DEFINITION Bacterial infection & inflammation of the epiglottis
Life-threatening swelling of the epiglottis and septicaemia due to Haemophilus influenzae type b infection—most commonly in children aged 1–6yrs. This is now rare since routine HiB immunization.
Aetiology & Risk factors:
• Bacterial infection - haemophilus influenza B (HiB)
• Occurs most commonly between the ages of 1-6yrs of age
Presentation/Clinical Features: • Fever >38.5 • 'Toxic' looking child • Leaning forwards • Mouth open
- Dribbling
- Slight or no cough
- Soft stridor
- Weak or no voice
Investigations & Diagnosis
Clinical dx, NO investigations done until child stabilised
Can examine child (from afar, careful not to upset them), looking for:
• Degree of stridor and subcostal recession.
• Respiratory rate.
• HR.
• LOC (drowsiness), tiredness, and exhaustion.
• Pulse oximetry.
Management:
Initial priority is to differentiate between croup vs acute epiglottis
• If unsure, stabilise child, keep happy & quiet
• Alert airway team as possible intervention will be needed
Treatment
• Managed in the intensive care unit after endotracheal intubation.
• Once airway is secured blood cultures and start IV antibiotics.
○ 2nd or 3rd generation cephalosporin (e.g. cefuroxime, ceftriaxome, or cefotaxime) IV for 7–10 days.
○ Rifampicin prophylaxis to close contacts.
Prognosis:
With correct treatment most children make full recovery
Testicular Torsion - S&S, ix & management
Must be r/o in any child presenting with acute scrotal pain. Peak incidence occurs around 12yrs of age
Presentation/Clinical Features: • Sudden onset severe testicular pain ○ Often a/w nausea & vomiting • Testicular tenderness • Overlying scrotal skin may be reddened and oedematous
Differentials - epididymo-orchitis, testicular trauma, torted hydatid
Investigations & Diagnosis:
• Mostly clinical dx, investigations must not delay treatment
• USS can be used & will show reduced arterial flow
Management:
• Immediate scrotal exploration is mandatory to salvage the testis, which should then be fixed to prevent recurrence.
• The contralateral testis should also be fixed.
Hypospadias - define & management
DEFINITION Abnormal positioning of the urethral opening, different severities & classified by location of the meatus
Severe forms of hypospadias may be associated with chordee—a ventral curvature of the penis.
Doesn’t tend to cause any dysfunction, any make urinating standing up harder once boys are older. No sexual dysfunction
Hypospadias advice
• Make sure you document the diagnosis in the notes.
• Tell the parents not to circumcise the child.
• Give the parents a letter stating this advice.
• Refer the child to a paediatric surgeon.
Surgery
Surgical correction involves straightening of any chordee and reconstruc- tion of the urethra to the glans. This may involve tubularizing skin from the prepuce so circumcision is contraindicated. The correction can be completed in one or more operations during early childhood.
Duchenne’s Muscular Dystrophy - define, aetiology, S&S, ix
DEFINITION: Inherited disorder of progressive muscle weakness, X-linked recessive disorder with a mutation in the Xp21 gene which produces dystrophin
It affects approx. 1 in 3500 males births. DMD is the most common & most severe form of childhood muscular dystrophy.
Beckers muscular dystrophy is very similar to Duchennes, however the dystrophin gene is less severely affected and maintains some of its function.
Aetiology & Risk factors:
X-linked recessive genetic disorder
• Females can be carriers for DMD but as two copies of X chromosome, they are unlikely to experience symptoms
Pathogenesis:
Mutations within the dystrophin gene (deletions, duplications, and point mutations)
Presentation/Clinical Features:
• 3-5yrs of age w/ pain in pelvis
• Developmental delay
○ especially late walking and speech delay.
• Gower’s manoeuvre sign
○ child climbs up his thighs with his hands to get up off the floor)
• Calf hypertrophy
• Loss of ambulation (mean age 9 years)
• Affected boys develop a progressive cardiomyopathy.
• 30% of boys with DMD have a mild learning disability that is not progressive
Clinical Course
• Most boys end up in a wheelchair as a teenager
• Life expectance of around 25 – 35 years with good management of the cardiac and respiratory complications
○ Most die cardiorespiratory failure or infection
Investigations & Diagnosis:
• Dx based on hugely elevated CK - usually >10x
• Abnormal EMG & nerve conduction studies
• DNA testing will confirm DMD
Spinal muscular atrophy - define, aetiology, S&S, ix
DEFINITION Degeneration of the anterior horn cells - an anterior horn cell disorder
Different Types:
• Type 0 (Neonatal)-Type 3 (later onset)
• Type 1 (1 in 20,000); most severe
Aetiology & Pathophysiology:
• Autosomal recessive disorder caused by bi-allelic mutation in SMN gene on 5q13
• 95% of infants with type 1 SMA are homozygously deleted for exon 7 of the SMN1 gene.
• Progressive loss of motor neurones leading to progressive muscle weakness
• Affects lower motor neurones, so p/w LMN signs
Presentation/Clinical Features:
• Progressive proximal muscular weakness
• Reduced fetal movements
• Limb contractures
• Frog leg posture
• LMN signs i.e. muscle wasting, fasciculations, hypotonia, absent reflexes
○ Clinical examination may show fasciculations of the tongue, an important clinical indicator.
• In severe cases, babies usually feed normally for the first few weeks
with the earliest sign often being of a tiring infant who does not finish his feed.
• Intelligence is unaffected.
Investigations & Diagnosis:
• Diagnosis can be made by molecular genetic testing.
• EMGs are also used
Febrile Convulsions - define, S&S, differentials, ix & management
DEFINTION Type of seizures that occurs in children which is associated with a high fever
Usually occur in children from the age of 6mths-6yrs
○ Unusual to have first febrile convulsion >4yrs of age
Occur in 1 in 300 children
Types
○ Simple febrile seizures (typical): generalized tonic–clonic activity lasting <15min with associated fever.
○ Complex febrile seizures (atypical): these occur in up to 15% of cases and are characterized by focal seizure activity, or prolonged seizure longer than 15min, or multiple seizures within a day.
Aetiology & Risk factors:
Unclear mechanism - but are not due to any underlying neurological pathology or epilepsy
Presentation/Clinical Features:
• Brief generalised tonic clonic-seizure a/w a fever
○ Most last for approx 1-2mins but can also be a few seconds, some may last >15mins
• Tend to occur on first day of fever
• Fever can be >39o but can be normal at time of measurement
Differentials - epilepsy, meningitis, encephalitis, SOL, syncopal episode, electrolyte abnormalities, trauma (NAI)
Investigations & Diagnosis:
• Investigate as normal for a febrile child
○ Urine dipstick, inflammatory markers, CXR, LP as indicated
• Can consider EEG & brain imaging if atypical
Management:
• Diagnose & treat underlying infection
○ Abx if indicated, antipyretic agents
• Status epilepticus pathway if seizure >10mins
○ Rectal diazepam - can repeat if no response
• Parental reassurance & advice, education - should give standard antipyretics early in any febrile illness
• Parents should get expert advice if a previous seizure lasted >10min
Cerebral Palsy - define, aetiology, types/S&S, dx
DEFINITION A chronic non-progressive disorder of movement and/or posture that presents early (i.e. before the age of 2yrs) and continues throughout life. Associated with fixed insult to the developing brain
Aetiology & Risk factors:
CP is caused by a static brain injury to the developing brain
• Prenatal, perinatal or post natal events
○ ischaemia, congenital infection, neonatal meningitis, prematurity, IVH, kernicterus
Presentation/Clinical Features: Spastic CP - features of UMN weakness • Increased tone & reflexes • Reduced power - children can be hemiplegia, diplegia, quadriplegia • Clasp knife or 'catch' in limbs
Dystonic/Dyskinetic - involuntary movements
• Involuntary movements
○ Athetosis - impairs speech
○ Chorea
Ataxic CP - rare • Hypotonia • Wide based gait • Nystagmus • Intention tremor
Spasticity is a stretch-related response characterized by a velocity-dependent, increased resistance to passive stretch.
Investigations & Diagnosis:
• MRI brain to identify the static brain injury
Need to exclude neurodegenerative/metabolic conditions
Meningitis - define, types, aetiology, S&S, ix & management
DEFINITION Inflammation of the meninges (lining of brain & spinal cord), usually due to bacterial or viral infection
Infants do not get classical symptoms of meningism with meningitis and there should be an extremely low threshold for doing a lumbar puncture as part of the septic screen in infants with unexplained fever or seizures
Aetiology & Risk factors:
• Bacterial - streptococcus pneumoniae, Haemophilus influenza, Neisseria meningitidis
• Viral - HSV, enterovirus, adenovirus
• Neonatal virus - GBS, E.coli, Listeria
Pathogenesis:
The sequence of pathology involves:
• Colonization and invasion of the nasopharyngeal epithelium.
• Invasion of the blood stream.
• Attachment to and invasion of the meninges.
• Induction of inflammation with leak of proteins leading to cerebral
oedema.
• Alteration in cerebral blood flow and metabolism.
• Cerebral vasculitis.
Presentation/Clinical Features:
• Younger children = non-specific
○ Fever, poor feeding, lethargy
○ Rash and seizures may or may not be present
• Older children, fever with headache and neck stiffness.
Other features include:
• General: fever, vomiting, and anorexia.
• Central: irritability, disorientation, altered mental state.
• Seizures: occur in 30%
○ Focal seizures suggest localized infarction or subdural collection.
○ Do not assume ‘febrile convulsion’ in child under 1yr of age or over 1yr of age with additional symptoms.
• Neck stiffness: more common in older children.
• Neurology: focal cranial nerve signs are more common in children with tuberculous or cryptococcal meningitis.
• Eyes: papilloedema is a late sign and not a reliable indicator of raised intracranial pressure.
○ Retinal hemorrhages may be present and may indicate sagittal venous thrombosis or coagulopathy. However, these are rare and in the infant the possibility of non-accidental or inflicted head injury should be considered.
Differentials - encephalitis, SOL
Investigations & Diagnosis:
• Normal infection screen
• Lumbar puncture - if any concerns of raised ICP, CT first
○ Raised WBC (high lymphocytes = viral)
○ Increased neutrophils (bacterial)
○ High protein/low glucose in bacterial meningitis
Management
• IM benzylpenicillin as an initial single dose in primary care
• IV antibiotics;
○ benzylpenicillin + gentamycin for neonates
○ Ceftriaxone
www.nice.org.uk/CG102
Kawasaki Disease - define, S&S, ix, management & complications
DEFINITION Also known as mucocutaneous lymph node syndrome. It is a systemic, medium-sized vessel vasculitis
Commonest cause of acquired heart disease in children in the UK. It affects 3.4/100,000 children <5yrs of age, boys > girls, has a UK mortality of 3.7%.
Aetiology & Risk factors:
NO clear cause or trigger
Pathogenesis:
It is a systemic vasculitic disease with coronary arteritis leading to coronary artery aneurysms as the most important complication (20–30%).
Presentation/Clinical Features:
• Persistent high fever (>38.5) for at least 5 days
○ w/o any other explanation
• Unhappy & unwell child
• Widespread erythematous maculopapular skin rash
• Desquamation (skin peeling) on the palms and soles
• Strawberry tongue
• Dry & cracked lips/mucous membranes
• Cervical Lymphadenopathy
• Bilateral conjunctivitis
Differentials - adenovirus & other viral infections, streptococcal diseases, drug reactions/SJS
Investigations & Diagnosis:
Diagnosis can be made in children with fever (>38.5) present for at least 5 days without any other explanation + 4/5 of the following criteria:
1. Bilateral congestion of ocular conjuctivae (non-purulent)
2. Changes of lips & oral cavity e.e. dryness/cracked lips, strawberry tongue
3. Changes of the extremities with at least one of the following: erythema of palms and soles; indurative oedema; periungual desquamation of fingers and toes
4. Polymorphous exanthem (rash)
5. Non-suppurative cervical lymphadenopathy >1.5cm
Investigations
• Full blood count can show anaemia, leukocytosis and thrombocytosis
• Liver function tests can show hypoalbuminemia and elevated liver enzymes
• Inflammatory markers (particularly ESR) are raised
• Urinalysis can show raised white blood cells without infection
• Echocardiogram can demonstrate coronary artery pathology
Disease Course
3 phases of Kawasaki Disease
1. Acute phase - child is most unwell with the fever, rash and lymphadenopathy. This lasts 1 – 2 weeks.
2. Subacute phase: The acute symptoms settle, the desquamation and arthralgia occur and there is a risk of coronary artery aneurysms forming. This lasts 2 – 4 weeks.
3. Convalescent stage: The remaining symptoms settle, the blood tests slowly return to normal and the coronary aneurysms may regress. This last 2 – 4 weeks.
Management:
• High dose IV immunoglobulin is the treatment of choice
○ 2g/kg over 12hr as a single infusion
○ Consider repeat dose after 48hr if no deferevescence.
• Aspirin: 30—50mg/kg/day (divided qds) reducing to 3–5mg/kg as fever resolves.
• The role of steroids and novel biological therapies is not clear.
• Follow-up is very important for cardiac review.
ADHD - define, aetiology/RFs, S&S, ix & management
DEFINITION Characterized by an early onset, persistent pattern of inattention, hyperactivity and impulsivity that are more frequent and severe than in individuals at a comparable stage of development, and are present in more than one situation
Aetiology & Risk factors:
Genetic
• Twin and adoption studies indicate a genetic predisposition
○ concordance rate of 82% for monozygotic twins
• The DRD4 and DRD5 genes are thought to play a role
○ Dopamine receptors
Neurochemical
• Theories around dopaminergic transmission & dysfunctional DA pathways
Neurodevelopmental
• Theories around neurodevelopmental abnormalities of pre-frontal cortex due to symptoms of recklessness, inattention and learning difficulties.
Social
• Psychosocial stressors i.e. home environment, family dysfunction
• Associations with social deprivation, family conflict
• Higher incidences w/ parental cannabis and alcohol exposure
Risk factors for developing ADHD include: family hx, male sex & then environmental risk factors (see above)
Presentation/Clinical Features:
Three key domains of ADHD - inattention, hyperactivity and impulsivity. Symptoms should be present in >1 situation e.g. home & school, in clinic
Differentials - learning disability/difficulty, ODD, conduct disorder, autism, sleep disorders, mood disorders, sensory impairment
Investigations & Diagnosis:
• History taking - information from parents/carers as well as from school
• Examination - observe child in waiting room & in clinic room
• QB testing & questionnaires - usually reviewed by community paediatrician
• ICD-10 Diagnostic Criteria
Management:
• Parental educational programmes & support from groups etc
• Psychoeducation& CBT
• In severe hyperkinetic disorder in school-age children, drug treatment is first-line with the
CNS stimulant methylphenidate (Ritalin) being the usual choice.
• Atomoxetine (and if this fails, dexamfetamine) is the alternative when methylphenidate has
been ineffective. Side effects should be monitored for.
• Side effects of CNS stimulants include headache, insomnia, loss of appetite and weight loss.
• Recent studies show no clear link between extended stimulant use and growth retardation.
Autism Spectrum Disorder - define, RFs, S&S, ix & management
DEFINITION Pervasive developmental disorder characterised by a triad of impairments in social interaction, communication & restricted/stereotyped interests & behaviours
Aetiology & Risk factors:
Pre-natal factors
• Genetics; complex polygenic relationship, number of chromosomes implicated e.g. chr7, also a/w genetic conditions e.g. fragile X syndrome
• Parental age; mums >40yrs have a 50% greater chance of having a child w/ autism compared with mums aged 20-29
• Exposure to drugs; e.g. sodium valporate
• Infections; prenatal infections such as rubella
Antenatal factors
• Obstetric complications - hypoxia during birth, prematurity, very low birth weight
Postnatal factors
• Toxins - lead & mercury
• Pesticide exposure
Other risk factors inc: male sex (4:1), family hx, parental psychiatric disorders, prematurity, maternal medication use
Presentation/Clinical Features - ABC • Asocial features ○ Few social gestures ○ Lack of eye contact ○ Lack of social smile ○ Not responding to name ○ Less of an interest in other children or people
• Behaviour restricted ○ Restricted, repetitive and stereotyped behaviour, e.g. rocking and twisting. ○ Upset at any change in daily routine. ○ May prefer the same foods, insist on the same clothes and play the same games. ○ Obsessively pursued interests. ○ Fascination with sensory aspects of environment • Communication impaired ○ Distorted or delayed speech (often first sign noticed) ○ Echolalia (repetition of words)
Differentials - Asperger’s, Rett’s, learning disability, hearing impairment
Investigations & Diagnosis:
• Full developmental assessment including family history, pregnancy, birth, medical history, developmental milestones, daily living skills and assessment of communication, social interaction and stereotyped behaviours
• Hearing tests if required.
• Screening tools including CHAT (CHecklist for Autism in Toddlers)
Management:
• Biological; treat & manage any co-exisiting conditions, antipsychotics, melatonin to help with sleep cycles
• Psychological; psychoeducation for families & carers, full assessment, CBT
• Social; modification of lifestyle to help with environmental factors (light/noises etc), social communication intervention, self help groups, special schooling
Atrial Septal Defect - types, clinical presentation & management
Can be split into: ostium secundum or partial septal defect (ostium primum)
Ostium Secundum Defect
A mid-septum defect (70% of cases), is in the region of the foramen ovale. The AV valves are normal
• Epidemiology: defect is usually isolated, tends to be found incidentally. 3x more common in girls
• Clinical features: tend to be asymptomatic in most children. ASDs may rarely result in HF
• Treatment: recommended to be closed (surgically), even when asymptomatic. Tends to occur before school entry
Partial AV Septal Defect (Ostium Primum)
More serious type of ASD, affects endocardial cushion tissue that gives rise to mitral & tricuspid valves. Located in lower atrial septum & a/w 3 leaflet mitral valve. These abnormalities result in a left to right shunt with valve incompetence. AVSD are often seen in Down syndrome.
• Clinical features: if small most children are asymptomatic. Larger defects are predisposed to recurrent chest infections & to HF
• Prognosis: left to right shunt leads to pulmonary hypertension & mitral regurgitation
• Treatment: surgical closure indicated in pre-school
Presentation in adulthood
• Can present with dyspnoea, cyanosis
On examination: systolic murmur L sternal edge parasternal heave
VSD - define, S&S, management
DEFINITION Hole in septum between left & right ventricles. Subtypes include: large/small VSD, perimembranous, muscular, multiple/small defects
Aetiology & Risk factors:
Can occur as result of congenital abnormality, post-infarction, a/w Tetralogy of Fallot, Down’s & Turner’s Syndrome
Pathogenesis:
Due to increased pressure in left ventricle compared to right ventricle, blood typically shunts from left –> right
• Blood still oxygenated so stay acyanotic
• Leads to right sided overload, pulmonary HTN, RHF
If pulmonary HTN continues, the pressure in the right side of the heart may become greater than the left, resulting in the blood being shunted from right to left and avoiding the lungs. When this happens the patient will become cyanotic because blood is bypassing the lungs. This is called Eisenmenger Syndrome.
Presentation/Clinical Features:
• Asymptomatic (typical/early)
• Heart failure (breathlessness—after the first few days of life)
• Recurrent chest infections
• Cyanosis (rare after 1st decade of life)— 2o to Eisenmenger syndrome
• Endocarditis (late)
Examination Findings - pansystolic murmur, loudly heard at left lower sternal border in 3rd & 4th IC spaces, may be systolic thrill
Management:
Majority of defects will close spontaneously
• Medical: treat heart failure if present.
• Surgery: indicated if severe heart failure; pulmonary hypertension. This is performed at 3mths of age, before the pulmonary hypertension causes pulmonary vascular disease (Eisenmenger syndrome).
CoA - define, S&S, ix & management
DEFINITION Congenital condition - narrowing of the aortic arch, usually around the ductus arteriosus
Aetiology & Risk factors:
Associated with Turner’s syndrome & often co-exists with VSD
Presentation/Clinical Features:
• Absent/weak femoral pulses
• Hypertension in arms (esp right) but not legs
• Neonatal shock (around 48hrs after birth)
• Heart failure
• Murmur from collaterals - heard on back
Investigations & Diagnosis:
• CXR - ‘rib notching’ from collaterals (older child)
• ECG & Echo - RV hypertrophy in neonate, LV hypertrophy in older child
Management:
Neonates require resuscitation and early surgery. Older children or adolescents require stent insertion at cardiac catheter or surgical resection.
TOF - define, S&S, ix & management
DEFINITION Most common cyanotic CHD, characterised by 4 cardinal anatomical cardiac anomalies: large VSD, overriding aorta, RV outflow obstruction (pulmonary stenosis) & RV hypertrophy
Aetiology & Risk factors:
Associated with Di-George (22q11 deletion)
Presentation/Clinical Features:
Presents early in infancy
• Cyanosis - usually not present at birth, leads to clubbing, can occur during crying spells
• Paroxysmal hypercyanotic spells (infancy)
○ spontaneous/unpredictable onset; tachypnoea; restlessness; and increasing cyanosis then becoming white and floppy
○ Potentially dangerous
○ Duration ranges from a few minutes to hours; severe episodes result in syncope and occasionally convulsions/hemiparesis.
Investigations & Diagnosis:
• ECG - R axis deviation & RV hypertrophy/strain
• CXR - small ‘boot’ shaped heart
• ECHO
Management:
• Severe tetralogy of Fallot with worsening cyanosis in early neonatal period requires prostagladin E infusion
• Surgery (e.g. modified Blalock–Taussig shunt) in order to maintain pulmonary blood flow and oxygenation.
• Definitive surgery to repair the underlying heart defects is carried out from 4mths of age onwards.
Transposition of Great Arteries - define, S&S & management
DEFINITION Aorta arises from right ventricle & pulmonary artery arises from left ventricle creating two parallel circulations. Not compatible with life unless mixing of blood maintained via PDA/foramen ovale/ASD
Presentation/Clinical Features:
Infants usually present in first few hours or days of life with worsening duct dependent cyanosis
• Hypoxia - usually severe
• Egg on spoon appearance of heart on CXR
• ECHO needed
Management:
• Once diagnosed care is needed to maintain body temperature as hypothermia will worsen the metabolic acidosis of hypoxaemia.
• Prompt correction of acidosis and hypoglycaemia is essential.
• Before cardiac surgery, systemic arterial oxygenation can be improved with prostaglandin E infusion and balloon atrial septostomy
• Definitive arterial switch procedure is performed in the first 2wks of life.
Pyloric stenosis - definition, presentation, ix & management
DEFINITION Also known as infantile hypertrophic pyloric stenosis (IHPS) is a narrowing of the pylorus leading to intestinal obstruction in infants
Occurs approx. in 1 in 500 lives births, boys >girls & classically presents with projectile non-bilious vomiting in infants 2-8wks old
Aetiology & Risk factors:
Caused by hypertrophy & hyperplasia of the pylorus (muscular valve sitting between stomach & duodenum)
• Mechanical obstruction to outflow of gastric contents into duodenum
Number of risk factors
• Maternal smoking
• Bottle feeding
• Family hx/if siblings have been affected
• Macrolide antibiotics e.g. azithromycin, clarithromycin
○ Esp in 1st 2wks of life
○ Maternal use following birth
Presentation/Clinical Features:
• Non-bilious projectile vomiting
○ Not always projectile
○ Tends to occur 30-60mins after feeding
○ Worsens over days & increasing intensity
• O/E: enlarged firm pylorus (often palpable)
○ In epigastrium or RUQ
○ Size of olive
Investigations & Diagnosis: • Bedside: examination & history • Bloods - to evaluate effects of vomiting ○ FBC, U&Es, capillary blood gas • Imaging - abdominal USS
Management - SURGICAL
• Pyloromyotomy; Ramstedt’s or laparoscopic
Causes of intestinal obstruction (ddx for bilious vomiting)
Meconium ileus
BO that occurs when the meconium creates blockage in small intestine (ileum), a/w cystic fibrosis
Hirschsprung’s disease
Congenital absence of parasympathetic ganglionic cells in muscular wall of distal part of bowel & rectum
Think when meconium hasn’t been passed in first 24hrs of life
Oesophageal atresia
polyhydramnios and a mucousy baby is suspicious of OA.
Duodenal atresia
Bile-stained vomiting at birth, double bubble sign on AXR, a/w Down Syndrome
Intussuspection
telescoping of intestine into a neighbouring segment, occurs between 3mths-3yrs (more commonly 6-18mths)
most common site for an intussusception is ileocolic, causes abdominal pain accompanied with vomiting & bloody stools (red current jelly stools)
Imperforate anus
Malrotation of the intestines with a volvulus
Strangulated hernia
Intussuspection - define, a/w, S&S, ix & management
DEFINITION Bowel invaginates or telescopes into itself, causing a small bowel obstruction. Occurs more commonly in boys of 6mths to 2yrs
Associated with: concurrent viral illness (GE), HSP, cystic fibrosis, intestinal polyps, Meckel’s diverticulum
Pathogenesis:
Intussusception causes a small bowel obstruction
○ The intussuscepted bowel becomes engorged, which causes rectal bleeding, and eventually gangrenous.
○ Following this, perforation and peritonitis will occur.
The most common site for an intussusception is ileocolic followed by ileo-ileal.
○ Small bowel intussusception may occur as a post-operative complication in infants, typically following nephrectomy
Presentation/Clinical Features:
• Spasms of colic associated with pallor, screaming, and drawing-up legs.
• The child falls asleep between episodes.
• Later, as the intestinal obstruction progresses, bile-stained vomiting develops and rectal bleeding
○ ‘red currant jelly stools’
• The child will appear ill, listless, and dehydrated.
• In late cases circulatory shock or peritonitis will be present.
Investigations & Diagnosis:
• In 30% of cases the intussusception will be palpable as a sausage- shaped abdominal mass.
• Blood may be noted on rectal examination.
• AXR: small bowel obstruction and occasionally a soft tissue mass will
be visible.
• US: confirms the diagnosis by showing a characteristic ‘target sign’
Management
• Resuscitation: often large volumes of IV fluid are required to restore perfusion.
• Antibiotics.
• Analgesia.
• NGT passed if the infant is vomiting.
• Radiological reduction vs Laparotomy
Hirschsprung’s - define, S&S, ix & management
DEFINITION Congenital absence of parasympathetic ganglionic cells in muscular wall of distal part of bowel & rectum- think when meconium hasn’t been passed in first 24hrs of life
* In 80% of cases the transition zone is in the rectum or sigmoid—short segment disease. * In 20% of cases the entire colon is involved—long segment disease. * Occasionally, children with short segment disease present in childhood with chronic constipation.
Aetiology & Risk factors:
The incidence of HSD is 1/5000 live births. It may be familial and associated with trisomy 21.
• It is caused by a failure of ganglion cells to migrate into the hindgut.
• Also a/w neurofibromatosis, MENII
Presentation/Clinical Features: Presentation dependent on severity. It can p/w acute intestinal obstruction shortly after birth or more gradually developing symptoms • Delay in passing meconium (>24hrs) • Chronic constipation since birth • Abdominal pain & distension • Vomiting (bile stained) • Poor weight gain & FTT
Management
• Investigations: AXR (dx intestinal obstruction), rectal biopsy to confirm diagnosis
• Initial management: fluid resuscitation and management of the intestinal obstruction
○ IV antibiotics are required in HAEC.
• Definite management: surgical removal of the aganglionic section of bowel
○ May be left with some bowel dysfunction/degree of incontienence
Meningitis - define, causes, S&S, ix & management
Definition: Inflammation of the meninges - outer membranes covering brain & spinal cord
Aetiology & Risk factors:
Can be due to number of infectious (viral vs bacterial) & non-infectious causes
Bacterial Meningitis
• Bacterial - Neisseria meningitidis (meningococcus, gram -ve diplococcus)
○ Meningococcal septicaemia - bacterial infection has entered bloodstream
§ Cause of classic non-blanching rash, indicated DIC & subcutaneous haemorrhages
○ Meningococcal meningitis - in the brain
• Bacterial - Streptococcus pneumoniae
• Bacterial (neonatal) - Group B Streptococcus
○ Usually contracted during birth from GBS vaginal bacteria
Viral Meningitis - tends to be milder & often only requires supportive treatment. Aciclovir can be used to treat suspected or confirmed HSV meningitis
• Herpes simplex virus (HSV)
• Enterovirus
• Varicella zoster virus (VZV
Presentation/Clinical Features: Signs & Symptoms • Fever • Neck stiffness • Vomiting • Headache • Photophobia • Altered consciousness • Seizures • Non-blanching rash (meningococcal septicaemia)
O/E - Kernig’s test & Brudzinski’s test
In Neonates
• Hypotonia
• Poor feeding
• Lethargy
• Bulging fontanelle
• Hypothermia
• LP should be performed in all children:
○ Under 1 months presenting with fever
○ 1 – 3 months with fever and are unwell
○ Under 1 years with unexplained fever and other features of serious illness
Investigations & Diagnosis:
Bedside/Community
• ABCDE - if critically unwell
• Focused history:
○ important to determine any preceding illnesses that increase risk of meningitis (e.g. sinusitis, otitis media, contact with an affected patient)
• Allergy status
• Formal examination
○ assess for meningeal irritation, look for non-blanching rash and signs of sepsis (e.g. hypotension, tachycardia)
• Throat Swab
• Respiratory viral screen (nasopharyngeal swab)
• STAT IM BENZYLPENICILLIN DOSE (1200 mg - adults, age adjusted for children)
Bloods • FBC, U&Es, LFTs, bone profile, coagulation, CRP • Blood cultures • Venous blood gas • Meningococcal PCR
Imaging
• CT head - usually done as part of work up, normally to r/o any contraindications for an LP
○ Some indications e.g. immunocompromised patient, hx of CNS disease, new onset seizures etc
Special Tests
• LUMBAR PUNCTURE (L3/L4)- every patient w/ suspected meningitis should undergo an LP & CSF evaulation
○ Ideally before abx, however difficult to implement in practise
○ Looks at: cell count & differential, protein, glucose, MC&S, viral PCR, save sample
○ May be able to isolate pathogen to tell if viral vs bacterial, but can also look at results of CSF
§ Bacterial = v high WCC, normal/reduced glucose & neutrophils
§ Viral = high WCC, normal glucose & lymphocytes
Management:
Depends on aetiology - usually treated for bacterial meningitis as really don’t want to miss it
Bacterial
• 1st line = ceftriaxone (3rd gen cephalosporin)
○ It should be used with caution in patients with penicillin allergy due to cross-reactivity
○ If there is a severe penicillin allergy (e.g. anaphylaxis) it should be avoided.
• 2nd line = chloramphenicol
Viral
• Majority secondary to enterovirus & don’t require any specific treatment
• Supportive measures inc rest, hydration, analgesia & anti-pyretic agent
• Aciclovir used if concern of encephalitis or HSV infection
