Paediatrics Flashcards
Describe cot death (Sudden Unexplained Infant Death), it’s risk factors and Preventative measures
Refers to unexpected death of infant less than 12 months where a cause is not immediately obvious prior to investigation. It is due to infection, metabolic errors, accidental suffocation and Sudden Infant Death Syndrome which is a still unexpected death after investigation.
Risk increased if:
- poor
- parents are smokers
- baby is male or premature
- winter
- previously sibling affected by SIDS
- co-existing URI
- co-sleeping
Recommend:
- do not overheat baby’s bedroom, aim for 16-20C
- do not use too much bedding
- avoid co-sleeping
- sleep baby facing up
Describe Oppositional Defiant Disorder, its symptoms, and management
A lesser version of conduct disorder, Enduring pattern of negative hostile and defiant behaviour without serious violation of societal norms or the rights of others, which may only be present in one environment.
Symptoms:
- Temper
- argues with adults
- defies adult requests
- deliberately annoys others
- shifts blame
- easily annoyed
- angry/resentful
Management:
- Parent training programs (Triple P)
- Individual cognitive therapy for older children, aims to support young person to approach difficulties and stress through systematic problem solving rather than through jumping to conclusions and engaging in aggression
- multi-agency therapy, work with young person, family, parents, school, criminal justice system
Describe Conduct Disorder, its symptoms, and it’s management
It is a type of behavioural disorder, defined as persistent failure to control behaviour appropriately within socially defined rules.
Symptoms:
- Characterised by persistent antisocial behaviour that violates the rights of others, and age-appropriate social norms.
- Syndrome of core symptoms, defiance of will of someone in authority, aggression, antisocial behaviour.
- There may be aggression to people and animals, destruction of property, theft, truancy, provocative/disobedient behaviour.
Management:
- Parent training programs (Triple P)
- Individual cognitive therapy for older children, aims to support young person to approach difficulties and stress through systematic problem solving rather than through jumping to conclusions and engaging in aggression
- multi-agency therapy, work with young person, family, parents, school, criminal justice system
Describe Attention Deficit Hyperactivity Disorder (ADHD), it’s symptoms, and management.
Most common neurobehavioural disorder in childhood. Commoner in learning-disabled children and if prenatal cannabis exposure.
Symptoms:
- core diagnostic criteria are impulsivity, inattention, and hyperactivity.
- Attention deficit signs: unable to listen/attend closely to detail, unable to sustain attention in play activities, unable to follow instructions, unable to finish homework, unable to organise tasks ending sustained application, unable to ignore extraneous stimuli, unable to remember simple tasks.
- Hyperactivity signs: squirming/fidgeting, on the go all the time, talks incessantly, climbs overly everything, restless, no quiet hobbies, impulsive, blurts out answers, too impatient to take turns or to queue.
Management:
- Diagnosis and treatment should be initiated by a specialist e.g. Psychiatrist/paediatrician
- advice on positive parenting and behavioural techniques
- 1st line regiment is parent training/education programmes +/- CBT for older children
- Drugs such as methyphenidate (Ritalin) may be useful if non-drug treatment fail, or atomoxetine, or combination if severe.
Describe haemolytic uraemia syndrome and its symptoms
It is most common cause of AKI in children. Endothelial damage commonly (90%) from E.coli strain O157 leads to thrombosis, platelet consumption and fibrin strand deposition mainly in renal microvasculature. Strands cause mechanical destruction of RBC’s giving triad of haemolysis, thrombocytopenia and AKI.
Symptoms: Clinical features include abdominal pain, bloody diarrhoea and AKI.
Describe the six-week baby check, it’s main purpose, and what it entails.
It includes a physical examination, a review of development, an opportunity to give health promotion advice, and an opportunity for the parent to express concerns
Main Purpose:
- detect congenital heart disease
- detect development dysphasia of the hip (DDH)
- detect congenital cataract
- detect undescended testes.
Physical Examination:
- a weight check
- measurement of head circumference
- a general assessment of appearance I.e. Colour, behaviour, breathing, activity
- assessment of tone, movements and posture
- assessment of head, fontanelles, face nose palate and symmetry
- assessment of the eyes for presence of red reflex and visual fixing
- assessment of the heart, it’s position, murmurs, rate, femoral pulses, apex beat, ventricular heave,
- assessment of lungs, added sounds and rate (RR over 55 is suspicious), cyanosis, respiratory distress,
- assessment of abdomen, shape, organomegaly, herniae
- assessment of genitalia, normality, testicular descent
- examination of the hips by Barlow and Ortolani tests and by looking for symmetrical skin crease in the thighs. Check for leg length discrepancy.
- assessment of the spine
Review of development:
- review feeding and weight gain
- check growth chart
- review vision and hearing
- socially most babies smiling at 6 weeks and have a range of sounds.
Parent concerns?
Health promotion:
- vaccinations
- breast-feeding and weaning advice
- reduce risk of cot death, no smoking, put baby to sleep on its back, avoid falling asleep with the baby in same bed, avoid overheating, avoid bulky or lose items of bedding like pillows and duvets, encourage breast-feeding
Describe Pertussis (Whooping cough), it’s signs, and management
Bordetella pertussis, peak age in infants with second peak in those over 14. Whoops are caused by inspiration against a closed glottis.
Signs: apnoea, bouts of coughing ending with vomiting +/- cyanosis worse at night or after feeds.
Management:
- erythromycin is often used in those likely to expose infants to the disease.
- admit if less than 6 months due to risk of apnoea.
- can be self-limiting and mild.
- vaccine available not always effective.
Describe Hand Foot and Mouth disease, its symptoms and management.
Very common viral infection of children typically caused by Coxsackievirus A16
Symptoms: the child is mildly unwell, develops vesicles on palms, soles and mouth. They may cause discomfort until they heal.
Treatment:
- self-limiting in 1-2wks
- symptomatic control for temperatures. Ensure good oral intake.
Describe Kawasaki Disease and its symptoms
Medium vessel vasculitis of children similar to PAN. Median age is 10 months. Can lead to coronary artery aneurysm and infarction.
Symptoms: Child may present with bilateral non-purulent conjuncitivits, pharyngeal injection, strawberry tongue, pyrexia, diarrohea, neck lymphadenopathy, rash, palmar erythema, fingertip desquamation.
What is meconium?
The first stool of a mammalian infant, unlike faeces it is composed of materials ingested during the time spent in the uterus such as intestinal epithelial cells, mucus, main iota fluid. It is a viscous and stick like tar and is usually a dark olive green and almost oderless.
Describe Meconium Aspiration Syndrome (MAS) and its management.
Occurs in the term/near term infant when meconium, the faecal material that accumulates in the foetal colon during gestation, is passed in utero, leading to meconium stained amniotic fluid (MSAF). MSAF occurs in around 8-25% of births, usually due to foetal distress or advance foetal age. MAS occurs only in 5% of these infants; it is defined as respiratory distress in the infant born through MSAF which cannot otherwise be explained. Aspiration of meconium mostly occur pre-birth. It may lead to airway obstruction, surfactant dysfunction, pulmonary vasoconstriction, infection, and chemical pneumonia is.
Management:
- Intrapartum suctioning of the Oro/nasopharynx is not recommended.
- Endotracheal suctioning is only needed for those infants who aren’t vigorous at birth.
- Surfactant, ventilation, inhaled nitric oxide and antibiotics are all used.
What are the reference intervals for paediatric observations?
Less than 1 year:
- RR 30-40/min
- PR 110-160/min
- Systolic BP 70-90mmHg
2-5yrs:
- RR 20-30/min
- PR 95-140/min
- Systolic BP 80-100mmHg
5-12yrs:
- RR 15-20/min
- PR 80-120/min
- Systolic BP 90-110mmHg
Older than 12yrs:
- RR 2-16/min
- PR 60-100/min
- Systolic BP 100-120mmHg
Describe Retinopathy of Prematurity, its screening, and management.
A disorder of the developing retina. Major risk factors are low birth weight and prematurity. Exposure to supplemental oxygen is a cause, in particular large fluctuations in PaO2, so careful titration of O2 levels has led to a decrease in the incidence of RoP. Abnormal fibrovascular proliferation or retinal vessels am lead to retinal detachment and visual loss.
Screening:
- Screening is recommended if less than 1500g or 32 weeks gestation.
- If less than 27 weeks, screen at 30-31 weeks post-menstrual age.
- If born at 27-32 weeks then screen at 4-5weeks post natal age.
- Screening ought to be repeated 1-2 weekly depending on severity of disease. It must be done by an experience ophthalmologist.
Management:
-Diode laser therapy causes less myopia than cryotherapy.
Describe IntraVentricular Haemorrhage (IVH), it’s signs, tests, complications, and management.
Occurs in 25% if birthweight less than 1500g. Preterm infants are at risk of IVH due to unsupported blood vessels in the subependymal germinal matrix and the instability of blood pressure associated with birth trauma and respiratory distress. Delayed cord clamping in press may decrease risk.
Signs: Suspect in neonates who detioriate rapidly, especially in week 1. There may be seizures, bulging fontanelle, and cerebral irritability but many will have no clinical symptoms.
Tests: ultrasound is preferred
Complications: decreased IQ, cerebral palsy, hydrocephalus.
Management: Meticulous nursing, head elevation, circulatory support, seizure control (1st line phenobarbital loading dose 20mg/kg IV as slow injection).
What is Transient Tachypnoea of the Newborn (TTN)?
Respiratory distress due to excess lung fluid, usually resolves after 24h. Treatment is supportive and may include supplemental oxygen and antibiotics.
Describe Respiratory Distress Syndrome (RDS), it’s signs, prevention, and treatment.
RDS is due to a deficiency of alveolar surfactant, which is mainly confined to premature babies. Insufficient surfactant leads to alveolar collapse; re-inflation, with each breath exhausts the baby, and respiratory failure follows. Hypoxia leads to decreased cardiac output, hypotension, acidosis and renal failure. It is the major cause of death from prematurity.
Signs: Respiratory distress shortly after birth (1st 4h) I.e. Tachypnoea more than 60/min, grunting, nasal flaring, intercostal, subcostal and/or sternal recession, and cyanosis. CXR shows diffuse granular patterns (ground glass appearance).
Prevention: Betamethasone or dexamethasone should be offered to all women at risk of preterm delivery from 23-35 weeks, mothers at high risk should be transferred to perinatal centres with experience in managing RDS.
Treatment:
- delay clamping of cord by 3 min to promote placento-foetal transfusion.
- Give oxygen via an oxygen/air blender using the lowest concentration possible.
- If spontaneous breathing stabilise with CPAP (5-6cmH2O)
- Babies at high risk should get surfactant.
- aim for sats between 85-93% to prevent retinopathy of prematurity
- if blood gases worsen, incubate and support ventilation.
Describe PeriVentricular Leukomalacia (PVL), it’s causes, signs, and management.
A form of white matter injury, characterised by the necrosis of white matter near the lateral ventricles. Affected individuals generally exhibit motor control problems and other developmental delays and often develop cerebral palsy or epilepsy later in life.
Causes: It is thought to be due to two major factors, decreased blood or oxygen flow to the PeriVentricular region, and damage to the glial cells. It is thought that initial hypocrite events cause damage to blood-brain barrier which leads to further hypoxic difficulties.
Presentation: Delayed motor development, vision deficits, apnoeas, low heart rates, and seizures. Found on routine US of head.
Management:
- reduce hypoxic and Brady events
- no treatment available
What is the definition of preterm?
A neonate whose calculated gestational age from the last menstrual period is less than 37 weeks
What is the definition of the neonatal period and thus a neonate?
The neonatal period is the 1st 28days of life in a term baby, in a preterm baby it is up to 44 completed weeks of the infants conceptional age I.e. Gestational age + chronological age (e.g. 37+7).
Describe growth charts and how preterm infants are corrected for.
Preterm infants may be plotted on the preterm growth chart or the low birth weight chart if less than 32 weeks gestation. There may be some weight loss in the early days after birth.
Gestational correction: Plot actual age then draw a line back the number of weeks the infant was preterm and mark the spot with an arrow. This is the gestationally corrected centile.
Describe the Child Immunization schedule.
2 months: 5in1 DTaP/IPV/Hib vaccine to protect against five separate diseases, diphtheria, tetanus, whooping cough(pertussis), polio, and haemophilus infleunza type b. PCV vaccine for pneumococcal disease. Rotavirus vaccine. Men B vaccine.
3 months: 5in1 DTaP/IPV/Hib second dose, Men C vaccine, Rotaviris second dose.
4 months: 5in1 DTaP/IPV/Hib third dose. PCV second dose, Men B second dose.
12-13months: Hib/Men C booster, MMR vaccine, PCV third dose, Men B third dose.
2,3 and 4 years pls school years one and two: Annual children flu vaccine.
From 3years and 4 months up to starting school: MMR second dose, DTaP/IPV pre school booster.
12-13 Years girls only: HPV vaccine
At what age does one have capacity to consent to sexual activity?
13 years, sexual activity under this age is considered rape regardless of consent. Legally consent is not possible until 16.
Describe Hypoxic-Ischaemic Encephalopathy, it’s symptoms, management
Brain injury due to birth asphyxia/RDS.
Symptoms: Lethargic, hypotonia, sluggish or absent grasping, Moro and sucking reflexes. Period of apnoea. Seizures. Pupils may be dilated, fixed or poorly reactive to light.
Management:
- ensure adequate ventilation
- avoid large fluctuations in blood pressure and oxygen levels.
- avoid hypo/hyperglycaemia
- avoid hyperthermia.
- treat seizures
- hypothermia therapy, NNT = 7
Describe Patent Ductus Arteriosus (PDA), its symptoms, and management.
An acyanotic cause of congenital heart disease. Due to failure of the Ductus Arteriosus to close after birth. Normally PDA closes in response to a rise in PaO2.
Symptoms: Failure to thrive, Pneumoniae, CCF, SBE, collapsing pulse, thrill, loud S2, systolic pulmonary area murmur, or continuous machinery hum that may radiate to back. ECG may show LVH.
Management:
- dexamethasone in preterm labour helps close PDAs.
- watch and wait and consider surgical closure if not spontaneous closure.
Describe Persistent Pulmonary Hypertension with reference to normal physiological changes at birth, its symptoms, and management.
With our first breath pulmonary vascular resistance falls, and there is a rush of blood to our lungs. This is partly mediated by endogenous nitric oxide. This breath initiates changes from foetal to adult circulation, a process which may be interrupted in various conditions e.g. Meconium aspiration, pneumonia, RDS, diaphragmatic hernia, group B strep infection, and pulmonary hypoplasia.
Symptoms: Tachypnoea (more than 60), grunting, intercostal/subcostal recessions, cyanosis, mottled skin, lows sats with oxygen.
Management:
Usually requires inhaled nitric oxide and high frequency oscillatory ventilation. May require extracorporeal membrane oxygenation
Describe Necrotising EnteroColitis (NEC), its risk factors, signs, and management.
An inflammatory bowel necrosis.
Risk Factors: Prematurity is the chief risk factor. If weight is less than 1500g 5-10% develop NEC. Other risks factors include enteral feeds, bacterial colonisation, mucosal injury, rapid weight gain.
Signs: Abdominal distension, blood/mucus PR, may be tenderness and perforation if severe and so signs of shock, DIC. Pneumatosis intestinalis (gas in the gut wall seen on X-Ray) is pathognomonic.
Management:
- Stop oral feeding
- culture faeces, cross match, monitor platelets, less than 100 is severe.
- give antibiotics e.g. Cefotaxime + vancomycin
- liaise early with surgical team, laparotomy may be neccessary if progressive distension or perforation.
Describe Oesophageal atresia, it’s signs and management.
Often occur with tracheo-oesophageal fistula, but may occur without. Is there air in the bowel?
Prenatal Signs: polyhydraminos (too much amniotic fluid), small stomach. Postnatal signs: cough, airway obstruction, increased secretions, blowing bubbles, distended abdomen, cyanosis, aspiration. Commonly diagnosed on inability to pass a catheter into roam have, X-Ray’s show it coiled in the oesophagus. There may also be duodenal atresia, shown on X-ray by double bubble sign.
Management:
- stop feeding
- suck out the oesophageal pouch.
- Primary surgical repair is possible in majority of cases and in 50% there are other anomalies.
Describe Hirschsprung’s Disease, and it’s management.
Occurs in 1/5000 births. Congenital absence of ganglia in a segment of colon. Leading to functional GI obstruction, constipation, and mega colon. Faeces may be felt per abdomen, and PR exam may reveal a tight anal sphincter and explosive discharge of stool and gas. It is 3 times as common in males.
Complications: GI perforation, bleeding, ulcers, EnteroColitis, short gut syndrome afternoon Surrey,
Management:
-excision of aganglionic segment +/- colostomy.
Describe Pyloric Stenosis, its presentation, investigations, and management.
An acute surgical problem, 4 times more common in males, and with a FHx in 5-10%.
Presentation:
- Presents at 3-8wks with vomiting which occurs after feeds and becomes projectile (e.g. Vomiting over far end of the cot).
- It is distinguished from other causes of vomiting by the following: the vomit does not contain bile, there is no diarrohoea, baby is alert, anxious and alway hungry possibly dehydrated and malnourished.
- Vomiting is large volume and minutes after a feed.
Investigations:
- Examination, observe for left-to-right LUQ peristalsis during a feed, seen in late-presenting babies. Try to Palpate the olive-side pyloric mass by standing on the baby’s left side palpating with the left hand at the lateral border of the right rectus in the RUQ, during a feed from a bottle of the left breast.
- U+Es may show a hypochloraemic, Hypokalaemia metabolic alkalosis which needs to be corrected before surgery.
- USS if -ve examination
Management:
- correct electrolyte disturbances before surgery
- ramstedt’s pyloromyotomy/ endoscopic surgery.
Describe intussusception, it’s presentation, and management.
The most common cause of intestinal obstruction in children. The small bowel telescopes as if were swallowing itself by invagination. 3 times more common in men.
Presentation: Typically at 5-12months but can be any age, with episodic, intermittent inconsolable crying, with drawing the legs up (colic) +/- vomiting +/- blood PR (like red-currant jelly). A sausage shaped abdominal mass may be felt.
Management:
- pre-op, resuscitate, crossmatch, NG tube.
- least invasive is USS and reduction with air enema.
- If reduction by air fails laparoscopy/laparotomy is needed.
- Necrotic bowel will need to be resected.
Describe a Medulloblastoma, it’s presentation, and management.
Midline cerebellar embryonal tumour (inferior vermis).4 times more common in males, peak age is around 4yrs.
Presentation: headache, papilloedema due to increased ICP, speech difficulty, truncal ataxia +/- falls.
Management:
-surgical resection + radio/chemotherapy
Describe Neuroblastoma, it’s presentation, and management.
Thought of as a embryonal neoplasm, derived from sympathetic Neuroblasts. Presents in decreased frequency from birth to 5yrs of age. Some forms regress others are highly malignant. It is the most-common solid tumour in the under 5s.
Presentation: in children unilateral proptosis may be the 1st sign. Abdominal swelling. Commonly metastasise to lymph nodes (lymphadenopathy), scalp, bone (pancytopaenia +/- osteolytic lesions). 97% have raised urinary excretion of catecholamines.
Management:
- refer to specialist centre
- Excision if possible and chemotherapy (e.g. Cyclophosphamide + doxorubicin)
Describe Wilms’ Nephroblastoma, it’s presentation, and management.
Commonest renal tumour of childhood 6-7% of all malignancies. It is an undifferentiated mesodermal tumour of the intermediate cell mass. Median age of presentation is 3.5yrs and 95% of tumours are unilateral.
Presentation: Fever, flank pain, abdominal mass. On USS renal pelvis distortion, hydro nephrotic may be seen. CT/MRI provide the detailed anatomical information need for surgical planning.
Management: Avoid biopsy, nephrectomy + vincristine and actinomycin for 4 weeks pre-op can cure.
-More advanced sages need 3-drug regimen + radiotherapy
Describe Cow’s Milk allergy, it’s presentation and management.
Common, occurs in up to 7% of children. Most children with milk allergy outgrow it (average 5 years for IgE mediated and 3 years for non IgE mediated).
Presentation: Usually in infancy. Allergy may be IgE mediated with rapid onset of symptoms such as urticaria or angioedema or non-IgE mediated, producing more delayed symptoms such as eczema
Management: Exclusion of cows’ milk protein from diet including diet of breastfeeding mother under dietician supervision.
-Use of alternative formulas such as fully hydrolysed or Soy.
Describe Allergic Rhinosinusitis, it’s presentation, and management.
May be seasonal, high risk in 5-14year olds. Caused by IgE-mediated inflammation from allergen exposure to nasal mucosa causing inflammatory mediator release from mast cells.
Presentation: Chil with sneezing, pruritis, rhinorrhoea. May notice Denny Morgan lines, allergic shiner, allergic salute.
Management:
- antihistamines
- nasal douching
- nasal steroids
Describe Diabetic Ketoacidosis, it’s presentation, investigations, and management.
A medical emergency. Ketoacidosis is an alternative metabolic pathway that occurs in starvation states, an breaks down protein giving acetone as a by product. In diabetic Ketoacidosis there is excessive glucose but because of lack of insulin this cannot be taken up into cells pushing the body into a starvation state where Ketoacidosis occurs.
Presentation: Gradual drowsiness, committing and dehydration in a type 1 diabetic. May also be history of polyuria, polydipsia, lethargy, anorexia. Signs of dehydration and ketotic breath occur later deep and rapid (Kussmaul) breathing.
Investigations:
- Urinalysis (glucose, ketones)
- BM (hyperglycaemia greater than 11mmol/L)
- Blood Gas (Acidaemia pH less than 7.3) (Severity on pH e.g. Mild = less than 7.3, moderate less than 7.2, severe less than 7.1)
- Bloods, U+Es, Glucose, HbA1c, Cultures (if pyrexial), FBC.
- ECG (looking for peaked t-waves hyperkalaemia)
Management:
-DR ABCDE Assessment
-Be wary of sudden fluid changes as risk of cerebral oedema.
-Fluid status examination + fluids replacement
-IV fluids for 1h then IV insulin, unless able to orally rehydrate and SC insulin.
-Monitor bloods stop insulin when ketones less than 1mmol/L if glucose falls to less than 14mmol/L give dextrose alongside fluids.
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Describe Eosinophillic Oesophagitis, its symptoms, and management
An allergic inflammatory condition of the oesophagus. Mostly described in children but can occur in adults. Food allergy may play an important role. More common in males.
Symptoms: difficulty swallowing, food impaction, regurgitation, vomiting, deceased appeitite. Diagnosed on OGD which does, ridges, furrows and scalloping of oesophagus.
Management: Dietary evaluation, allergy removal.
-corticosteroids and NSAIDs for remission. Antihistamines.
Describe the APGAR Neonatal Assessment.
A score of 0-2 for each:
- Appearance, 2 = Pink, 1 = blue limbs, 0 = all blue or white
- Pulse, 2 = more than 100, 1 = less than 100, 0 = pulseless
- Grimace, 2 = coughs well on suction, 1 = depressed cough on suction, 0 = no response
- Activity, 2 = Active, good muscle tone flexed arms and legs that resist extension, 1 = Limb flexion, 0 = absent
- Respiratory effort, 2 =strong cry, 1 = slow irregular cry. Gasping 0 = absent
Describe Congenital Diaphragmatic Hernia, it’s signs, and management.
A developmental defect in the diaphragm allowing herniation of abdominal contents into chest. Leads to impaired lung development (pulmonary hypoplasia and pulmonary hypertension). May be diagnosed on prenatal ultrasound, postnatal CXR.
Signs: Difficult resuscitation at birth, respiratory distress, Bowles sounds in one hemithorax (usually left and heart heard on right).
Management:
- post-nasally insert a large bore nasogastric tube when diagnosis is suspected. At birth if prenatal diagnosis. The aim is to keep all air out of the gut.
- Face mask ventilation is contraindicated so immediately intubation, ventilate and paralyse with minimal pressures.
- surgical correction neccessary m
What are babies born to diabetic mothers at risk of?
-3x more malformation rates (sacral agenesis almost exclusive to this group, CVS + CNS more common), babies may e too large or growth restricted. Neonatally they may be hypoglycaemic, Hypokalaemia, low magnesium, higher risk of RDS, polycythaemic so more neonatal jaundice.
What is Erb’s Palsy
Damage to brachial plexus C5, C6 damage affects supra scapular, musculocutaneous and axillary nerves. This leads to paralysis of supraspinatus (abduction), infraspinatus (internal rotation), biceps (supination), brachialis (flexion of elbow), deltiod (abduction) and teres minor (external rotation). As a result the arm is held internally rotated, pronated, extended, and adducted in the waiters tip position. Difficult deliveries in neonates can produce this sign.
Describe Bronchiolitis, its symptoms, tests, and management.
The big lung infection in infants. Typical cause is RSV, also mycoplasma, adenovirus, parainfluenza. Those under 6 months are most at risk. Usually self-limiting.
Symptoms: Coryzal precedes cough, low fever, tachypnoea, wheeze, inspiratory crackles, apnoea, intercostal recession +/- cyanosis. Signs that prompt admission include poor feeding, RR greater than 50/min, apnoea, dehydration, rib recession, patient or parental exhaustion.
Tests: CXR if severe, may show hyperinflation, Blood gases, FBC.
Management:
- O2 stop when sats above 92%
- nasogastric feeds,
- don’t routinely use bronchodilators and steroids
- supportive
- infants younger than 24 months with chronic lung disease, infants who are younger than 12 months who were born before 29 weeks, who have specific types of heart disease may be given a special medication palivizumab to protect against RSV.
Describe Neonatal Jaundice, it’s causes, tests, and management.
Occurs in 60% of neonates, most do not require treatment. It is due to raised bilirubin. When severe or not managed Kernicterus a permanent form of brain damage may occur.
Causes:
- after 24hr usually Physiological due to increased bilirubin production in neonates due to shorter RBC lifespan, decreased bilirubin conjugation due to hepatic immaturity, and absence of gut flora impedes elimination of bile pigment.
- Within 24 hr may be rhesus haemolytic disease, ABO incompatibility, Red cell anomalies (congenital spherocytosis, G6PD deficiency
- prolonged jaundice after 14days may be due breastfeeding, sepsis, hypothyroidism, CF, biliary atresia.
Tests: FBC, Film, Blood group, Coombs test, Urinalysis. TFTs and sweat test in prolonged jaundice.
Management:
- use bilirubin chart, if in treatment zone treat with phototherapy which uses light energy to convert bilirubin to soluble products.
- if severe consider Exchange transfusion, warmed blood 160ml/Kg (double volume) given ideally via umbilical vein with removal via umbilical artery. Monitor ECG, U+E, Ca2+, bilirubin, clotting, FBC and glucose.
Describe Autism Spectrum Disorders (ASDs), its symptoms, and treatment
A developmental disorder consisting of a triad of impaired reciprocal social interaction, impaired imagination (+/- abnormal verbal and nonverbal communication), and restricted repertoires of activities and interests. If one child is affect the risk of the next pregnancy being affected is 5-10%. There is associated epilepsy in 30%.
Symptoms: diagnosis depends on having more than 6 symptoms, with at least 2 A symptoms, and one each from B and C.
- A symptoms, unawareness of the existence and feelings of others, abnormal response to being hurt, impaired imitation, repetitive play, bad at making friends.
- B symptoms, little babbling and few facial expression or no gestures in infancy, avoids mutual gaze, odd speech (echolalia (repetition) and odd use of words, difficulty in initiating or sustaining reciprocal roles in conversations.
- C symptoms, stereotyped movements (hand-flicking, spinning, head-banging), preoccupation with parts of objects, marked distress over changes in trivia, insists on following routines in precise detail, narrow fixations.
Treatment:
- Early intensive behavioural intervention +/- speech therapy +/- special schooling. Starts at 3yrs old
- Parent training helps communication, enriches parent knowledge, enhances parent-child interaction, and decreased parental maternal depression.
- Social skills training, Benefits available.
- Drugs have small role, fish oils may help with tantrums and self harm, atomextine may help with hyperactivity
What is Asperger’s Syndrome?
Autistic features without autistic aloneness or linguistic difficulty. It is less severe than autism. It is possible to teach better recognition of emotions and how to predict emotional response.
Why do Adolescents exhibit more risk-taking behaviours?
Frontal lobe thought to be involved in control impulsivity, in adolescents the frontal lobe is still developing so there is deceased impulsivity control and therefore more risk-taking behaviours.
Describe Measles, its symptoms, and management.
It is a noticeable disease caused by a RNA paramyxovirus. Spread via droplets.
Symptoms: Prodromal phase of cough, conjunctivitis, and pyrexia (often greater than 40C). Kolpik spots (clustered, white lesions on the buccal mucosa opposite the upper 1st + 2nd molars) are pathognomonic. Rash follows which starts behind ears as discrete maculo-Papular rash and spreads to become confluent
Management:
- isolate and treat in hospital
- ensure adequate nutrition and hydration
- treat any secondary infections.
- complications include encephalitis, subacute sclerosing panencephalitis, febrile convulsions, giant cell pneumonia, keratoconjunctivitis, myocarditis.
Describe gastro-oesophageal reflux disease in children, its symptoms, tests, and management.
Symptoms: Presents with regurgitation, distress after feeds, apnoea, pneumonia, failure to thrive, and anaemia.
Tests: endoscopy + evaluation with an oesophageal pH probe.
Treatment:
- Reassurance as most resolve within 6-9 months
- avoid over feeding
- drugs may be neede e.g. Antacid + sodium/magnesium Alginate
- if This fails may use domperidone +/-Omeprazole
Describe Immune Thrombocytopenic Purpura (ITP), its symptoms, tests, and management.
Caused by anti-platelet antibodies, may be acute (commonly self-limiting disease in children ~2 weeks post infection) or chronic (seen mainly in young/middle-aged women).
Symptoms:
- Acute ITP presents wth bruising, purpura, petechiae. Usually history of recent gastroenteritis or URTI.
- Chronic ITP presents with varying history of bleeding, purpura, epistaxis, menhorragia.
Tests: FBC, bone marrow biopsy shows increased megakaryocytes and anti platelet antibodies
Treatment:
- none if mild, gradual resolution over 3 months.
- if symptomatic or platelets less than 20, immunosuppression to keep platelets above 30 e.g Prednisolone 1mg/kg/d
- if no response or relapse splenectomy cures
Describe Febrile Convulsions and its management.
Tonic-clonic, symmetrical seizures typically lasting less than 20min provoked by fever in otherwise normal children. Typically occur between ages of 5 months and 5 years.
Think of meningo-encephalitis, CNS lesion, epilepsy, trauma, hypoglycaemia, hypocalcaemia, hypomagnesia if there are focal CNS signs, previous history of epilepsy, seizure lasts more than 15 minutes. Or there is more than 1 attack in an hour.
Management:
- put in recovery position
- if fit lasting more than 5 minutes. Lorazepam IV, Buccal midaozolam, or PR diazepam.
- not dangerous, educate parents and give rectal diazepam.
What is hypospadias?
Narrow meatus on ventral surface of penis, can be anywhere form base of glands down to scrotum. Circumcision should be avoided so that foreskin can be used for preschool repair. May accompany undescended testis and be indicator of sexual differentiation disorder.
Describe West Syndrome (infantile spasms), its features, and management.
Uncommon-rare epileptic disorder, characterised by infantile spasms. It is age-related generally occurring between 3-12mnth. Usually secondary to serious neurological abrnomality (e.g. TS, Encephalitis, Birth asphyxia) or may be cryptogenic
Features:
- Lightning attacks (sudden, severe myoclonus conclusions of the entire body or several parts in split seconds)
- Nodding attacks (convulsions of throat and neck muscles during which the chin is fitfully jerked towards the breast or head is drawn inward)
- Salaam/jackknife attacks (a flexor spasm with rapid bending of the head and torso forward and simultaneous raising and bending of the arms.
- EEG shows hysparrhythmia.
Management:
- difficult to treat
- vigabatrin is considered first-line therapy
Describe Rett syndrome
X-linked neurodevelopment disorder. At first development is normal, head circumference is normal. Then there is decreased head growth between 5-48mths, loss of purposeful hand skills and the development of stereotyped movements e.g. Hand wringing or hand washing. There is also a decreased interest in social activities early in the purse, ataxic gait or trunk movement. Imparied expressive and receptive language and psychomotor retardation. Usually due to MECP2 gene mutation in 70%. May develop epilepsy.
What are some causes of childhood obesity?
Snack/bad diet Not enough excercise Hypothyroidism Cushings Prader-willi Bardet-beidl Cohen syndrome Polycystic ovary syndrome.
Describe Precocious puberty, its symptoms, tests, and management.
Puberty may start as early as 8yrs in girls and 9yrs in boys, refer to a paediatric endocrinologist if onset before this. More common in females. Cause may be central (gonadotrophin dependent e.g. Cranipharyngioma or pituitary tumour) or peripheral (e.g. Testis or adrenal problem or HCG excretion from rare tumours).
Symptoms: Enlargement of testes is 1st sign in boys and is due to pulses of pituitary gonadotrophin. Breast enlargement in girls and penis enlargement in boys is due to gonadal sex steroid secretion. Pubic hair is a manifestation of adrenal androgen production.
Tests: Growth charts and puberty staging using Tanner charts, CNS CT/MRI (cranipharyngioma, pituitary tumours), Karyotype, ad real testis and pelvis ultrasound. TFTs, HCG, AFP, GH.
Management:
-delaying onset of puberty by stopping pulsation affect of GnRH axis by flooding system with GnRH analogues. Treatment continued up to 11years.
Describe Gynaecomastia in young men.
In early male puberty there is often transient oestrogen/testosterone imbalance leading to increased breast tissue. This is relatively common and quite normal, avoid tests but Karyotype if testis les than 6ml. Reassure and delay requests for mammoplasty.
Describe Klinefelters syndrome and its features
XXY or XXYY polysemy + variable leydig cell defect. The chief cause of male hypogonadism.
Features:
- Often taller than average
- Lack of secondary sexual characteristics
- Small firm testes
- Infertile
- Gynaecomastia (increased incidence of breast cancer)
- Elevated gonadotrophin levels.
Describe hypothyroidism in children , it’s causes, symptoms, tests,and management.
Thyroid hormone is neccessary for growth and neurological development. Dysfunction may occur in the neonate, infant or during childhood.
Causes:
- congenital e.g. Athyreosis, thyroid dysgenesis, dyshormonogenesis.
- acquired e.g. Prematurity, Hashimoto’s thyroiditis, hypopituitarism, X-rays, Down’s.
Symptoms: may be none at birth or prolonged neonatal jaundice, widely opened posterior fontanelle, poor feeding, hypotonia, dry skin. later associated with precocious puberty, short stature,
Tests: heel prick 7 days of life on Guthrie card also TFTs.
Management:
-levothyroxine guided by TSH.
What conditions are screened for using the Guthrie Card?
- sickle cell disease
- congenital hypothyroidism
- cystic fibrosis
- inherited metabolic disease, phenylketonuria, medium-chain Acetyl-CoA dehydrogenase deficiency, maple syrup urine disease, isovaleric acidaemia, glutaric aciduria type 1, homocystinuria
What are the causes of Diarrohea in children?
Secretory: decreased absorption or increased secretion, stool is watery even if fasting, causes include cholera, C.diff, E.coli, carcinoid.
Osmotic: increased osmotic load in gut lumen, stool is watery acidic and +ve for reducing substances. Causes include galactose, glucose, sorbitol or lactose intolerance or laxative abuse.
Motility: increased e.g. Thyrotoxicosis, IBS, dumping syndrome. Decreased e.g. Pseudo-obstruction, intussception.
Inflammatory: e.g. Blood diarrhoea. Salmonella, shigella, campylobacter, rotavirus, amoebas is, NEC, Crohn’s/UC (look for weight loss, anemia, raised WBC, thrombophilia, Raised ESR) coeliac, HUS.
Describe Gastroenteritis in Children and its management.
Diarrohea may be an early sign for any septic illness. Rotavirus is the most common cause of gastroenteritis in children and infants. Other viruses include norovirus, adenovirus, astrovirus.
Management:
- fluids if dehydrated ORT at first
- weight to monitor progress and quantity dehydration.
- Ondansetron may be used to reduce vomiting and prevent need of IV fluids and hospital admission.
How does one estimate dehydration?
Mild dehydration: decreased urine output - manage at home with oral fluids
5% dehydration: dry mucous membranes and decreased urine output. Give maintainence water requirement + deficit %dehyrdation X weight kg X 10ml
10% dehydration: dry mucous membranes and decreased urine output, sunken fontanelle, tachycardia, hoarse cry, decreased skin turgor, decreased CRT. Give maintainence water requirement + deficit %dehyrdation X weight kg X 10ml
More than 10%: the above signs + shock, drowsiness, hypotension, treat with bolus until stable.
Describe enuresis and its management.
Infrequent bed wetting (less than 1nights per week) occurs in 20% at 4.5yrs and 8% at 9.5yrs. Secondary enuresis implies wetness after more than 6 months dryness and raises concerns about illness or abuse.
Management:
- start with advice and reassurance e.g. Use of reward systems (star charts) for agreed behaviours as opposed to dry nights.
- reduce caffeine, normal fluid intake, regular toileting during day and before bed.
- first line treatment for children under age of 7 is enuresis alarm
- desmopressin may be used first-line in children over age of 7 or in children in which an enuresis alarm has been ineffective.
Describe Mesenteric Adenitis, its symptoms, tests, and management.
A common cause of abdominal pain, usually following a viral URTI.
Symptoms: Presents with high fever, generalised abdominal discomfort, rarely localising.
Tests: FBC may show raised WCC, Urine Dip normal, Abdominal US insignificant.
Management:
- conservative usually resolves by self in 2 weeks.
- appendicectomy if diagnostic doubt.
What are the described Post-immunisation reactions?
1/10: Pain redness or swelling at injection site, irritability and increased crying, being off-colour or having a low-grade fever.
1/100: loss of appeitite, diarrohoea, vomting
1/1000: febrile convulsions, floppiness
1/10 000: high fever more than 40.5C, inconsolable crying
1/100 000: Anaphylaxis
Describe Tetralogy of Fallot, its symptoms, tests, and management
The commonest congenital cyanotic heart disorder, Pulmonary stenosis, overriding aorta, inter ventricular defect, and right ventricular hypertrophy.
Symptoms: Cyanosis as ductus closes, dyspnoea, faints, squatting at play (this reduces peripheral vascular resistance and so reduces right to left shunt, clubbing, harsh systolic murmur at left sternal base.
Tests: usually raised Hb, CXR shows wooden shoe heart contour + RVH. ECG shows RVH, Echo helps show anatomy and degree of stenosis.
Management:
- Oxygen
- Place in knee-chest position
- Morphine to sedate and relax pulmonary outflow
- corrective surgery
What is DiGeorge’s Syndrome?
Deletion of chromosome 22q11.2 causes absent thymus, fits, small parathyroids (hypocalcaemia), anaemia, lymphopenia, reduced GH, reduced t-cell immunity.
Describe Down’s Syndrome, its symptoms, management.
Most common chromosomal abnormality found in live born infants.
Symptoms:
- Dysmorphic features = upward slanting pale real fissures, epicanthic folds, brachycephaly there may also be low-set ears, flats nasal bridge, protruding younger, excessive skin at nape o neck/short neck, transverse single palmar crease, gap between 1st and second toes (sandal gap), hyperflexibility.
- Congenital malformations e.g. VSD, Tertralogy of Fallot, PDA, duodenal atresia, oesophageal atresia +/- trachea-oesophageal fistula.
- Intellectual/cognitive difficulties, development delay by the 1st year, milestones achieved at roughly twice age. Also behavioural and psychiatric problems more likely. Alzheimers common
Management:
- Prenatal screening, in 1st and second trimester.
- treat existing medical problems
- ongoing evaluation and monitoring for associated conditions e.g. -Hearing monitoring for otitis media
- thyroid function for hypothyroidism
- FBC and film for anaemia, transient abnormal myelopoeisis and leukaemia.
- regular opthammologic review
- coeliac screening and monitoring.
Describe Erythema Infectiosum and its signs.
Also known as fifth disease or slapped cheek syndrome, caused by parvovirus B19. Pregnant women are at risk of foetal death from hydrops foetalis.
Signs: Usually a mild acute infection with malar erythema, and a rash typically on limbs. It can can cause aplastic crisis especially in those with short RBC lifespan e.g. Sickle cell disease, thalassemia, spherocytosis and HIV.
Usually self-limiting consider referral in at risk groups.
Describe Roseola Infantum
This is a common, mild, self limiting, illness in infants causing fever then a maculopapular rash on subsidence of fever at the end of the 4th febrile day. Caused by HHV-6, can cause febrile convulsions.
DeScribe UTIs in children it’s symptoms, tests, and management
Child is often non-specifically ill, more common in girls older than 3 months and boys under that age. Dip urine for any child with unexplained fever.
Symptoms: Infants often present with non-specific symptoms such as poor-feeding, vomting, irritability, fever. Older children may present with abdominal pain, foul-smelling urine, dysuria, frequency. Consider Upper UTI if fever + loin pain/ tenderness.
Tests:
- clean catch urine sample MC+S.
- Urinalysis (nitrates +/- leucocytes)
- USS + MCUG if 3rd UTI or Second UTI with one upper.
Management:
- less than 3 months should be referred to paediatrician
- Upper UTI with nitrates oral antibiotics for 7-10days review with results of culture and assess response, consider referral.
- lower UTI treat with 3 days antibiotics.
Describe Diphtheria, its symptoms and management.
Caused by toxin of corynebacterium diphtheriae.
Symptoms: It usually starts as tonsillitis with a false membrane over the fauces. Toxin may also cause a polyneuritis often starting with the cranial nerves. Shock may occur from myocarditis, toxaemia.
Management:
- Diptheria anti-toxin and erythromycin
- erythromycin for contacts.
- vaccinate
Describe Rickets, its symptoms, and management.
Inadequate mineralisation of developing bone. Leads to soft and easily deformed bones. Mostly due to vitamin D deficiency. In adults the equivalent condition is osteomalacia.
Symptoms: In toddlers, genu varum (bow legs), in older children genu Valium (knock knees), rickety rosary (swelling at the costochondral junction), kyphoscoliosis, craniotabes (soft skull bones), Harrison’s sulcus, reduced serum calcium, raise ALP, raised PTH.
Management:
-oral vitamin D
What are the main types of congenital heart disease?
Acyanotic e.g. VSD, ASD, PDA, Coarctaton of aorta, AS
Cyanotic e.g. Tetralogy of Fallot, Tranposition of the great arteries, tricuspid atresia, PS
Describe Ventricular Septal Defects, its symptoms, and management.
Most common acyanotic congenital heart disease.
Symptoms: usually mild. Harsh, loud, blowing pansystolic murmur heard best at left sternal edge +/- systolic thrill
Management:
- some spontaneously close by 9 months
- large defects may need surgery
What are the markers of nutrition in a neonate?
Following growth chart curve
Urea > 2
Albumin (delay, less reliable)
Describe Innocent murmurs and their characteristics.
Ejection murmurs due to turbulent blood flow at the outflow tract of the heart. You can get venous hums due to the turbulent blood flow in the great veins returning to the heart. It sounds like a continuous blowing noise head just below the clavicles. Still’s murmur, a low pitches sound head at the lower left sternal edge.
Characteristics of an innocent ejection murmur include:
- soft-blowing murmur in the pulmonary area, or short buzzing in the aortic area.
- it may vary with posture
- localised with no radiation
- no diastolic component
- no thrill
- no added sounds
- asymptomatic child
- no other abnormality.
Describe Coarctation of the Aorta, its symptoms, investigations, and management.
Congenital narrowing of the descending aortas usually occurs just distal to the origin of the left subclavian artery. More common in boys. It is associated with bicuspid aortic valve and turners syndrome. Can lead to heart failure and increased risk of infective endocarditis.
Symptoms: Radiofemoral delay, weak femoral pulse, raised BP scapular bruit, systolic murmur.
Investigations: 4 limb BPs, CT or MRI angiogram, CXR shows rib notching.
Management:
Surgery, or ballon dilatation +/- stenting.
Describe Tethered Spinal Cord Syndrome, its symptoms, investigations, and management.
A group of neurological disorders that relate to malformation of the spinal cord. All forms involve lulling of the spinal cord at the base of the spinal canal. May go on undiagnosed into adult life
Symptoms: Lesions, hairy patches, dimples or fatty tumours on the lower back. Foot and spinal deformities. Leg weakness, change in or abnormal gait, low back pain, scoliosis, urinary irregularities. In adults severe pain, lost of feeling and movement, or bladder and bowel issues emerge.
Investigations: ultrasonography may detect MRI is gold standard
Management: neurosurgical referral
Describe the Foetal Circulation and the change that occur at birth.
Blood arrives via the umbilical vein where it attaches to the portal vein. Here blood is shunted throughthe ductus venous away from the semi-functional liver and toward the heart. Oxygenated blood enters from the placenta enters the right atrium via the inferior vena cava. The foramen ovals allows oxygenated blood in the right atrium to reach the left atrium. The ductus Arteriosus connects the aorta with the pulmonary artery further shunting blood away from the longs and into the aorta. Mixed blood travels to the head and body and back to the placenta via the aorta.
At birth alveolar fluid clearance, lung expansions, clamping of the umbilical cord and circulatory changes lead to closing of the right to left circulatory shunts and transition to normal circulation. Lung expansion decreases pulmonary vascular resistance and pulmonary arterial pressure, umbilical clamping increases neonatal systemic arterial pressure. Theses changes causes the right to left shunt at the ductus Arteriosus to become left to right shunt, increasing ventricular stroke volume and neonatal cerebral and lung perfusion which raises PaO2 stimulating ductus Arteriosus closure. Increase in systemic pressure and pulmonary arterial flow cause pressure to rise in left atrial pressure and reduce in the right causing closure of the foramen ovale.
Describe Congenital Adrenal Hyperplasia and its features
Any of several autosomal recessive disease leading to mutations in genes for enzymes mediating the biochemical steps of production of mineralocorticoids, glucocorticoids or sex steroids from cholesterol. Most of the conditions involve excessive or deficiency sex steroids. The most common form involves 21-hydroxylase.
Features: Vomiting, dehydration, ambiguous genitalia, girls may be masculinised, boys may seem normal at birth but have precocious puberty or incomplete masculinisation. Hyponatraemia an hyperkalaemia are common.
Describe Galactosaemia, its symptoms, investigations, and management.
A rare autosomal recessive carbohydrate metabolism disorder, caused by the absence of galactose-1-phosphate uridyl transferase. This results in intracellular accumulation of galatose-1-phosphate. The cardinal features are hepatomegaly, cataracts, and mental handicap.
Symptoms: feeding difficulty, vomiting, poor weight gain, poor growth, lethargy, hypotonia, jaundice, hepatomegaly, coagulation, cataracts, Ascites, developmental delay. Hypoglycaemia after exposure to galactose. Fanconi syndrome.
Investigations: Urinalysis, LFTs, metabolic acidosis, slit lamp examination if doubt over cataracts. Urine reducing substances/
Management:
- Discontinue milk, Dietician input
- antibiotics, IV fluids and Vitamin K may be needed.
- Galactose free diet.
What is the management of an Umbilical hernia?
Occurs in 3% of live births, a result of persistent defect in the transversalis fascia, the umbilical ring, through which the umbilical vessels passed to reach foetus. Surgical repair is rarely needed as most resolve by 3 years however if it is large or unresolved by 4-5yrs consider surgical management. Warn patients of obstruction and strangulation.
Describe haemolytic disease of the newborn and its management.
Occurs when a RhD-ve mother delivers a RhD+ve baby a leak of foetal red cells into her circulation may stimulate her to produce anti-D IgG antibodies. In later pregnancies these can cross the placenta, causing worsening rhesus haemolytic disease with each successive RhD+ve pregnancy. Can occur in first pregnancy if threatened miscarriage, APH, Mild trauma, amniocentesis, chorionic villous sampling, external cephalon version.
Management:
- Test for D antibodies in all RhD-ve mothers, at booking, 28 & 34 weeks gestation
- Anti D titres less than 4u/ml are very unlikely to cause serious disease.
Describe Ebsteins Anomaly and its symptoms.
A congenital defect with downward displacement of the tricuspid valve atrial aiding the right ventricle causing right-sided heart failure.
Symptoms: May be asymptomatic, or cyanosis, clubbing, triple rhythm, systolic and diastolic murmurs. ECG shows tell P waves and increased PR interval, RBBB.
Describe Intrauterine Growth Retardation, it’s risk factors, and management.
70% are normal I.e. Small babies, 30% are due to genetic abnormalities, placental abnormalities, infection, or metabolic disease. Babies measured by US an plotted on personalised growth chart based on mothers age BMI and ethnicity. Small for gestational age is a baby that lies below 10th decile. IUGR is a baby that fallen a decile. Increase risk of still birth and birth complications.
Risk factors: previous SGA, smoking, drug use, alcohol, Multips, cardiac disease, Antiphospholipid syndrome, Renal disease, UC, Crohns, BMI less than 20 or greater than 25, labetalol use, diabetes.
Management:
- uterine artery Doppler at 20-24 wks predicts risk of IUGR if high risk regular growth scans (2wk) weekly Doppler and elective birth at 37wks.
- deliver within 48hrs if abnormal Doppler.
- If necessary delivery at 32wks possible.
- Magnesium sulphate until 30wks reduces risk of cerebral palsy
Describe Edward’s Syndrome and its features
Trisomy 18 second commonest trisomy after Down’s
Features: micrognathia, low-set ears, rocker-bottom feet, overlapping of fingers.
Describe Patau syndrome and its features.
Trisomy 13, more than 80% of children die within first year of life.
Features: microcephalic, small eyes, cleft lip/palate, polydactyly, scalp lesions, omphalocele (hernia in which abdominal organs protrude into umbilical cord) hernias, PDA, VSD, Dextrocardia, capillarity haemangniomata, polycystic kidneys.
What are the traffic light criteria used when assessing a child for serious illness?
Green: Taking most feeds, normal colour (lips, tongue, skin), responds to social cures, alert or easy to rouse, lusty cry, or playing, breathing calmly.
Amber: taking less than 50% of feeds, pale, not responding to social cues, no smile, hard to wake, decreased activity, tachypnoeic, (more than 50 in Less than 1, more than 40 in over 1), O2 sats less than 95%, crepitations, nasal flaring, CRT over 3, Tachycardic, dry mucous membranes, reduced urine output. Temperature over 39 in 3-6mnths, prolonged fever (more than 5 days), non weight baring limb, rigors, swelling of limb or joint.
Red: pale, mottled, ashen, blue, doesn’t stay awake when roused, decreased consciousness, decreased skin turgor, tachypnoea over 60, temperature in less than 3mnth old over 38C, bulging fonatenlles, non-blanching rash, neck stiffness, focal neurological signs. Green bile vomit.
Describe 3-month colic, its symptoms and its management.
Common complaint in infancy possible due to Cows’ Milk Protein Allergy, transitory lactose intolerance, and parental distress. It is also associated with general feed difficulties.
Symptoms: Paroxysmal crying with pulling up of legs for more than 3h on more than 3days/wk
Management:
- exclude other causes of colic, ensure baby growing normally, no bilious vomiting, GORD?
- Let the baby finish the first breast (hind milk is easier digest)
- ensure adequate feeding technique
- consider pre-incubating feeds with lactase (e.g. 2 drips of Colief Infant Drops per formulary feed left in fridge for 4-12hrs before heating or if breastfeeding express milk into sterilised container add 4 drops of Colief feed to baby on sterilised spoon before breastfeeding)
- Reassure strongly, reduce stress, encourage support and grandparent involvement.
Describe Nappy Rash/Diaper Dermatitis, the types and managements.
Common ‘Ammonia’ Dermatitis: red desquamting rash , sparing skin folds, due to moisture retention. It responds to frequent nappy changes, nappy free periods, careful drying and emollient creams such as sudocrem.
Candida: Isolatable from 1/2 of nappy rashes, hallmark is satellite spots beyond main rash. Treat as above but add topical clotrimazole.
Seborrhoeic Dermatitis: a diffuse red, shiny rash that extends into skin folds, often occurs with other seborrhoeic areas e.g. Occiput (cradle cap) management as for Common Dermatitis.
Psoriasis: Isolated psoriasis like scaly plaques which can be hard to treat, seek dermatologist involvement.
Describe the affects of congenital toxoplasmosis
Due to transplacental spread from mother, it causes a variety of defects to the unborn child including, microcephaly, hydrocephalus, cerebral calcification, and choroidoretinitis.
Avoid eating raw meat, and wash hands when handling meat, cat litter, and avoid sheep during lambing time.
Describe Extracorporeal Membrane Oxygenation (ECMO).
Used for babies with severe heart or lung failure, support is usually do 5-10days.
Cannulae are places end into artery and vein in the neck, which is connected to the ECMO circuit in turn and pumped through a membran oxygenator where carbon dioxide is removed and oxygen added, blood is re-warmed and returned to body.
This allows the lungs to rest and repair. There are risks of bleeding, infection, IVH, renal failure.
Describe Toddler’s Diarrhoea, symptoms, important differentials, and management.
Typically occurs in the second year of life and is associated with undigested food such as peas and carrots in the stools. Child is well and growing normally. It is thought to relate to rapid intestinal transit time. Usually resolves by 4.
Symptoms: three or more watery stools, pale, and smelly. Often with undigested food in them. Some abdominal pain. Otherwise we’ll.
Differentials: Breast-fed babies often have liquid stools and its normal. If any weight loss consider food intolerance, cystic fibrosis, coeliac disease, IBD, infection, hyperthyroidism.
Management:
- if low-fat diet introduce more fat e.g. Whole milk
- reduce fruit juice and squash intake.
- balance fibre of diet
What is a chignon?
A temporary swelling left on an infants head after a ventouse suction cap has been used for delivery. It is not a sign of serious injury and may take as little as two hours or as long as two weeks to disappear.
Describe Caput Succedaneum, its symptoms, and management.
Swelling on the the head of a newborn, more common following prolonged difficult deliveries. Caused by the pressure of the presenting part of the scalp against the dilating cervix (tourniquet effect of the cervix) during delivery.
Symptoms: Present at birth, typically forms over the vertex and crosses suture lines. Extraperiosteal fluid collection with poorly defined margins.
Management:
- usually resolves over the first few days
- baby may require analgesia
Describe Cephalohaematoma, Symptoms, and management.
A Cephalohaematoma is seen as a swelling on the newborns head. It typically develops several hours after delivery and is due to bleeding between the periosteum and skull. The most common site affected is the parietal region. Usually due to prolonged second stage or instrumental delivery. Must be differentiated from subaponeurotic haemorrhage.
Symptoms: Well defined swelling usually of the parietal regain that doesn’t cross suture lines. Jaundice may occur. Present several hours after delivery.
Management:
- can take up to 3 months to resolve
- may require phototherapy for jaundice.
Describe Subaponeurotic Haemorrhage, its symptoms, and management.
Bleeding into the potential space between the skill periosteum and the scalp galea aponeurosis. Most result from ventouse assisted delivery.
Symptoms: Fluctuant boggy mass developing over scalp (especially over the occiput) with superficial skin brushing. The selling develops gradually 12-72 hours after delivery. Patient may get swelling over the whole of skull, and can develop raccoon eyes. Patients will be shocked.
Management:
- vigilant observation for progression
- fluid bolus if shocked
- investigation for coagulopathy.
Describe Reflex anoxic seizures, it’s presentation, investigations, and management.
Occur mainly in young children, they are spontaneously-reversing brief epsiodes of asystole triggered by pain, fear or anxiety. Often misdiagnosed as epilepsy.
Presentation: Patient becomes suddenly pale and lump, and will fall and lose consciousness. Followed by tonic-clonic seizure. Episode is buried usually lasting 30-60seconds and recovery is rapid. Child may feel tired after for some time. There is no tongue biting which helps differentiate from epilepsy.
Investigations: EEG to exclude epilepsy. ECG to exclude long QT, heart block or ventricular hypertrophy.
Management:
- reassurance, advice to place in recovery position.
- pacemaker insertion is the only definitive treatment and reserved for severe cases.
Describe Section 17 and 47 regarding the Children’s Act 1989 and its relevance to doctors.
Section 17 - Provision of services for children in need, doctors may have to perform an assessment to support this section and must be completed within 1 week. Consent is required.
Section 47 - Duty to investigate regarding child protection. No consent needed. Must be completed within 72hours.
Describe Waardenburg Syndrone and its signs and symptoms.
A rare genetic disorder characterised by varying degrees of deafness, minor defects in structures arising from the unreal crest, and pigmentation anomalies. May also be associated with intestinal and spinal defects e.g. Hirschsprung’s disease.
Signs and Symptoms:
- Very pale or brilliantly blue eyes, eyes of two different colours
- a forelock of white hair (poliosis) or premature greying of hair
- appearance of wide-set eyes due to a prominent, broad nasal root
- moderate to profound hearing loss
- a low hairline and eyebrows that meet in the middle
- patches of white skin pigmentation
Describe Prada-willi syndrome and its symptoms
A genetic disorder due to loss of function of specific genes on chromosome 15, associated with increased levels of Ghrelin.
Features: Newborn present with weak muscles, poor feeding and slow development. In childhood hunger becomes prominent leading to obesity and type 2 DM. Often there is mild to moderate intellectual impairment. They are unable to have children.
What are the causes of Neonatal Jaundice?
-Physiological (after 24hr)
Within 24hr:
- Sepsis
- Rhesus haemolytic disease (+ve coombs test)
- ABO incompatibility
- Red cell anomalies e.g. Spherocytosis, G6PD deficiency
Prolonged Jaundice i.e not fading after 14 days:
- Hypothyroidism
- Cystic fibrosis
- Biliary atresia
- Galactosaemia
Describe the management of malnutrition
- hypoglycaemia, check blood glucose if less than 3 treat with 3ml/kg 10% dextrose
- Hypothermia, warm with blankets if less than 35
- Dehydration/anaemia, IV fluids transfuse if anaemia Hb less than 4g/dL
- Electrolyte imbalance use commercial F75
- Antibiotics all should get IV penicillin and gentamicin
- Vitamins, Vitamin A if eye signs on admission day 2 and 14. Iron when child gaining weight
- Prescribe feeding RUTF or F100
- Diet planning
- Sensory stimulation
- Discharge and follow up
Define low birth weight and the different types
- Low birth weight less than 2500g
- Very low birth weight less than 1500g
- Extremely low birth weight less than 1000g
What is the management of children born to HIV+ve mothers?
- Avoid breastfeeding where possible, cabergoline 1mg PO within 24hr to suppress lactation
- Newborn treated within 4hr of delivery e.g, AZT BD for 4 weeks or HAART if high risk
- Co-trimoxazole PCP prophylaxis to babies at high risk
- Babies tested at day 1 6wks and 12 wks with confirmatory at 18mnths
What are the features of congenital syphillis?
Rhinitis, snuffles, rash, hepatosplenomegaly, lymphadenopathy, anaemia, jaundice, ascites, hydrops, nephrosis, meningitis,
Hutchinsons triad: keratitis, nerve deafness Pointed teeth
Describe Homocystinuria, its features, and management.
A rare autosomal recessive disease caused by deficiency of cystathionine beta synthase. This results in an accumulation of homocysteine which is then oxidised to homecystine.
Features:
- Often patients have fine, fair hair
- Musculoskeletal: may be similar to Marfan’s e.g. Arachnodactyly, Tall stature
- Neurological: Patients may have learning difficulties, seizures
- Ocular: Downwards dislocation of lens
- Increased risk of arterial and venous thromboembolism
- Also Malar flush, livedo reticularis
Management:
- Diagnosis made by the cyanide-nitroprusside test which is also positive in cystinuria
- Treatment is with Vitamin B6 (Pyridoxine) supplements
Describe McCune-Albright syndrome and its features
An inherited disorder due to mutation in a G protein.
Features:
- precocious puberty
- cafe-au-last spots
- Polyostotic fibrous dysplasia - Pathological fractures.
- short stature
- Hyperthyroidism
Describe Phenylketonuria, its features, and management.
Phenylketonuria (PKU) is an autosomal recessive condition caused by a disorder of phenylalanine metabolism. This is usually due to a defect in phenylalanine hydroxyalse, an enzyme which inverts phenylalanine to tyrosine. In a small number of cases the underlying defect is a defiency of the terahydrobiopterin-deficient cofactor e.g. secondary to defective dihydrobioprerin reductase (this enzyme reduces NADPH to convert dihydrobiopterin to tertrahydribiopterin which is a cofactor in the production of tyrosine from phenylalanine.
Features: Usually present by 6 months e.g. with developmental delay. Child classically has fair hair and blue eyes, learning difficulties, seizures (typically infantile spasms), eczema, ‘musty’ odor to Urine and sweat. Diagnosed with Guthrie tests done at 5-9days of life. Also Hyperphenylalaninaemia and phenylpyurvic acid in urine.
Management: Dietary restriction
Describe William’s Syndrome and its features
An inherited neurodevelopmental disorder caused by a microdeletion on chromosome 7. Diagnosis is made by FISH studies.
Features:
- Elfin-like facies
- Characteristic like affect - very friendly and social
- Learning Difficulties
- Short stature
- Transient neonatal hypercalcaemia
- Supravalvular aortic stenosis
Describe Lennox-Gastaut Syndrome, its features, and management.
May be an extension of infantile spasms, onset 1-5yrs
Features: Atypical absences, falls, jerks, 90% have severe mental handicap. EEG show slow spike
Management:
-Ketogenic diet may help
Describe Benign Rolandic Epilepsy
Most common in childhood more so in males. Presents as paraesthesia e.g. unilateral face usually on waking up.
Describe Juvenile myoclonic epilepsy, its features and management.
aka Janz syndrome, Onset in teens twice as common in females.
Features: Infrequent generalised seizures, often in the morning, daytime absence, sudden shock like myoclonic seizures.
Management:
-Usually good response to Sodium Valproate.
What are some causes of seizures in the neonatal period?
Hypoglycaemia, Meningitis, Head trauma/Haemorrahge
Pyridoxine dependency (AR)
benign familial neonatal seizures (AD)
Benign neonatal convulsions
Describe Gordon Syndrome and its features
A extremely rare Autosomal Dominant disorder caused by mutations in the PIEZO2 gene. It is a distal arthrogryposes.
Features: Stiffness and impaired mobility of distal limbs. Camptodactlyl (Fingers in fixed flexion) Clubfoot, Cleft palate (20-30%).
Describe Fragile X Syndrome and its features
Fragile X syndrome is a genetic disorder caused by a trinucleotide repeat (CGG) in the FMR1 gene on the X Chromosome. It is thought to be the most common of inherited learning Disability
Features; DEvelopmental delay, learning disability, Large testicle after puberty connective tissues disorder with joint laxity an flat feet. Physical features may include a long and narrow face, large ears, flexible fingers.
Describe Pulled elbow, its features, and management.
Aka Radial head subluxation, is when the ligament that wraps around the radial head (Annular ligament) slips off. Typically occurs when lifting, pulling sharply on arm or swinging a child by the arms.
Features: Elbow pain, reduced movement, often child will hold their arm against the body with the elbow slightly bent.
Management:
Reduction, with one hand support elbow other hand on wrist, pronate and then supinate wrist then flex elbow joint, often click is felt over a dial head.
What is Dravet syndrome?
Previously known as Severe myoclonus Epilepsy of Infancy it is a catastrophic type of epilepsy with prolonged seizures that are often triggered by fever. It is intractable and hard to treatment with anticonvulsants and often begins before 1 year of age.
