Paediatrics 1 Flashcards
Give 5 things we want to know about pregnancy and birth during a paediatric history
Problems during pregnancy Early/on time/late Problems during birth Need for SCBU Birth weight Problems with baby checks Breast feeding Immunisations
Give 5 things we want to know about development during a paediatric history
Milestones - gross motor, vision and fine motor, hearing and language, social Any concerns from parents/nursery/school Behaviour/temperament Sleeping patterns Eating habits Bladder and bowel control
Give 5 things we want to know about social history during a paediatric history
Draw family tree Understand how every member is related Who does the child live with Type of housing Parental employment/health/smoking/alcohol/mental illness School/nursery - enjoyment, friends, progress, sports, attendance Other activitues Social worker involvement
Give 3 things we want to know about family history during a paediatric history
Any relevant info
Health burden
Pregnancy/neonatal/childhood deaths
Consanguinity
What 2 measurements are crucial for examining growth and nutrition in babies?
Weight
Head circumference
What 3 things should be noted before/during a neonatal examination?
Note birth weight, gestational age and head circumference
Outline the neonatal examination - head
Head circumference
Shape
Presence of caput succedaneum or cephalohaematoma
Palpation of fontanelle and sutures
Outline the neonatal examination - face
Assess for dysmorphic features (e.g. Down’s syndrome)
What are Epstein’s pearls?
Small, harmless cysts that form in a newborn’s mouth during the early weeks and months which contain keratin
Resolve spontaneously, no cause for concern
Outline the neonatal examination - mouth and palate
Inspection and palpation of palate (cleft)
Presence of Epstein’s pearls or gum cysts
Outline the neonatal examination - eyes
Check red reflex (cataracts)
Presence of swollen eyelids or conjunctival haemorrhage
Outline the neonatal examination - colour and skin
Plethoric/pale/jaundiced
Check for central cyanosis
Skin rashes - erythema toxicum
Discolouration - capillary/cavernous haemangiomas, port wine stain (nevus flammeus), Mongolion blue spots
What is erythema toxicum?
‘Newborn acne’
Occurs in 1st week of life and resolves in 1-2 weeks
What is a nevus flammeus?
Port wine stain
Pink/red discolouration of the skin due to capillary malformation which may darken with age and is permanent
What is a haemangioma?
Lesion/tumour caused by collection of dilated blood vessels
What is a Mongolion blue spot?
Congenital dermal melanocytosis
Flat, blue-gray spots on the buttocks or lower back
Most common in non-Caucasian babies
Most prominent at 1 year, resolve in early childhood
Outline the neonatal examination - arm and hands
Posture - any evidence of nerve palsy
Count fingers
Examine palmar creases
Outline the neonatal examination - chest
RR and respiratory effort
Listen for air entry
Note any breast engorgement (both sexes)
Outline the neonatal examination - heart
Palpate for heaves/thrills
Listen to front and back (murmur)
Feel femoral and brachial pulses (coarctation, PDA)
What does a collapsing pulse in a neonate suggest?
Patent ductus arteriosus
Outline the neonatal examination - abdomen
Inspect and palpate
Check if meconium has been passed
Check for hernia/masses
Patent anus
What is meconium?
Thick, green, tar-like substance that lines a baby’s intestines during pregnancy, typically released in bowel movements after birth
Outline the neonatal examination - genitalia
Note abnormalities
Check if urine has been passed
Check presence of testes in the scrotum of males
Outline the neonatal examination - muscle tone and reflexes
Observe posture and movement
Pick baby up - when prone, head should lift
Assess Moro, grasp and suck reflexes
What is the Moro reflex?
Infantile reflex that is a response to a sudden loss of support and involves three distinct components: spreading out the arms, pulling the arms in and crying
Outline the neonatal examination - back and spine
Check for midline defects in skin (sacral dimple, tuft of hair, swelling, naevus, discoloration)
Outline the neonatal examination - hips
Observe groin creases
Check leg length is equal
Check hip abduction is symmetrical
Check for reduced but dislocatable hip (Barlow +ve) or dislocated reducible hip (Ortolani +ve)
What is the Galeazzi sign?
Assesses for hip dislocation
Flexing an infant’s knees when they are lying down so that the feet touch the surface and the ankles touch the buttocks
Outline the neonatal examination - feet
Count toes
Assess foot posture (talipes equino varus)
What is talipes equino varus?
Clubfoot
Common foot abnormality in which the foot points downward and inward
Will resolve, PT
What is the most important cause of conjugated hyperbilirubinaemia to diagnose quickly and how can it be identified?
Biliary atresia
Pale stools and dark urine
What is biliary atresia?
Blockage in the bile ducts that carry bile from the liver to the gallbladder due to abnormal development
What is the most common type of hyperbilirubinaemia and what are its causes?
Unconjugated
Physiological, breast milk jaundice, haemolytic disease, infection, hypothyroidism
What is the definition of prolonged jaundice, what is the most common cause and what is the most important cause to identify early?
Visible jaundice persisting >14 days in a term infant and >21 days in a preterm infant
Breast feeding
Biliary atresia
How is prolonged jaundice treated?
Plot serum bilirubin and age on chart to determine if phototherapy or exchange transfusion are needed
What are the top 5 causes of respiratory distress in neonates?
Transient tachypnoea of the newborn Respiratory distress syndrome Meconium aspiration Pneumothorax Respiratory infection
Give 5 causes of cyanosis
Any cause of respiratory distress Persistent pulmonary hypertension of the newborn Congenital cyanotic heart disease Tracheo-oesophageal fistula Diaphragmatic hernia
What are the 2 main risk factors for neonatal sepsis?
Prolonged or premature rupture of membranes Maternal infection (group B strep)
Give 2 signs/symptoms of gastrointestinal disorders in neonates
Poor feeding
Vomiting
Delay in passage of meconium
Abdominal distension
What is bile stained vomit indicative of?
Intestinal obstruction until proven otherwise
Give 5 gastrointestinal disorders in neonates
Meconium plug/ileus Duodenal atresia Oesophageal atresia Malrotation with volvulus Hirschpring disease
What is exomphalos?
Weakness of a baby’s abdominal wall where the umbilical cord joins it which allows the abdominal contents (e.g. bowel and liver) to protrude outside the abdominal cavity where they are contained in a loose sac that surrounds the umbilical cord
What is gastroschisis?
A birth defect in which a baby’s intestines extend outside of the abdomen through a hole next to the umbilicus
Give 2 congenital abnormalities of the CNS
Neural tube defects Anencephaly Encephalocele Microencephaly Spina bifida
When does the neural tube usually close?
3 weeks post conception
Define anencephaly
NTD
Large portion of scalp, skull and cerebral hemispheres do not develop
Usually detected antenatally, always fatal
Define encephalocele
NTD
Protrusion of brain and meninges through midline defect in skull
Usually associated with craniofacial abnormalities and/or other cerebral abnormalities
Define microcephaly
Small head due to incomplete brain development or arrest of brain growth
Present at birth or can develop over years
Give 2 causes and 2 signs/symptoms of microcephaly
Causes - genetic, TORCH infections, maternal substance abuse, perinatal hypoxia
Symptoms - OFC crossing centiles, shallow sloping forehead, developmental delay, seizures, short stature
Name 2 devastating brain malformations
Lissencephaly (smooth)
Holoprosencephaly (no hemispheres)
Schizencephaly (clefts)
Porencephaly (cavities)
What is a sacral pit and what is its significance?
A, usually benign, dimple or indentation in skin over sacrum
Harmless if base seen or below natal cleft, requires imaging at a later stage if base not visible or above natal cleft as this may indicate spina bifida occulta
What is a cleft lip/palate?
Failure of maxillary processes to fuse
Can be unilateral/bilateral
What is the incidence of cleft lip/palate?
1 in 1000
When is cleft lip/palate repaired?
Lip - 3 months
Palate - 6-12 months
Give 2 complications of cleft palate
Feeding problems
Speech problems
Psychological issues
Aspiration pneumonia
What are periauricular pits?
Dimple/indentation in skin anterior to tragus
Why might a neonate with periauricular pits need further investigation?
Weak association with renal abnormalities
Assessed if other dysmorphisms/maternal diabetes/family history/deafness
What are preauricular tags?
Skin tags anterior to tragus
Harmless, cosmetic
What is a tracheo-oesophageal fistula and how does it present?
Communication between trachea and oesophagus
Coughing/choking during feeding, abdominal distension, recurrent chest infection
How is a tracheo-oesophageal fistula diagnosed and treated?
Bronchoscopy and contrast studies of oesophagus
Surgical correction
What condition is associated with duodenal atresia?
Down’s syndrome
What sign on x-ray is indicative of duodenal atresia?
Double bubble
Why might surgical repair of exomphalos/gastroschisis need to be done in stages?
Abdomen may be too small to hold the bowel
What is hypospadias and when is it repaired?
Urethral opening on underside of penis
12-18 months
What advice should be given to parents of a neonate with hypospadias?
Do not circumcise - foreskin can be used in repair
Give 2 symptoms of imperforate anus
Failure to pass meconium
Bilious vomiting
Abdominal distension
What side is most common for a diaphragmatic hernia in neonates?
Left; 90%
How is a diaphragmatic hernia identified?
Antenatal US or at birth (scaphoid abdomen, apparent dextrocardia, respiratory distress)
What is pulmonary hypoplasia and when is it a problem in neonates?
Incomplete development of the lungs, resulting in decreased number/size of bronchopulmonary segments
Complication of surgical repair of diaphragmatic hernia
What is achondroplasia and what is its aetiology?
Disorder of bone growth causing dwarfism
Autosomal dominant/spontaneous FGFR3 gene mutation on chromosome 4
Give 3 signs of achondroplasia at birth
Short limbs Large head Flat midface Frontal bossing Lumbar lordosis Trident hand
Give 2 complications of achondroplasia
Short stature
Talipes equinovarus
Hydrocephalus
Define polydactyly
> 5 finger/toes on any limb
Define syndactyly
Webbed fingers/toes
What is the incidence of Down’s syndrome?
1 in 1000
What genetic mechanisms can be involved in Down’s syndrome?
Non-disjunction (>90%)
Translocation (5%)
Mosaicism (1%)
What contributes to assessment of risk of Down’s syndrome on screening?
Beta-hCG
PAPP-A
Maternal age
Foetal nuchal translucency
What testing is offered to mothers who have a positive screening for Down’s syndrome and what are the risks of miscarriage of each?
Chorionic villus sampling (1.5%) or amniocentesis (1%)
Give 5 facial features of Down’s syndrome
Prominent epicanthic folds Upwards slanting palpebral fissures Brushfield spots (white) on iris Protruding tongue Small mouth Small chin Flat nose Round face Small, low set ears
What percentage of children with Down’s syndrome will have congenital heart disease and which conditions are most common?
50%
Atrioventricular septal defects
Ventricular septal defect
Tetralogy of Fallot
Give 3 gastrointestinal problems that children with Down’s syndrome are at increased risk of
Hirschprung's disease Duodenal atresia Imperforate anus Umbilical hernia GORD Coeliac disease
Give 4 features of Down’s syndrome on physical examination
Generalised hypotonia Short neck with excess skin at nape Brachycephaly Single palmar crease Short hands/fingers Sandal toe gap Poor growth Short stature
Give 4 neurological complications of Down’s syndrome
Learning difficulties Hearing impairment Strabismus Cataract Epilepsy Atlanto-axial instability
Why do children with Down’s syndrome often have hearing impairment?
Recurrent otitis media
What is strabismus?
A condition in which the eyes do not properly align with each other when looking at an object; squint
Give 4 complications of Down’s syndrome
AML/ALL Hypothyroidism Recurrent respiratory infection Obstructive sleep apnoea Alzheimer's disease
What is trisomy 18? Give 4 features
Edward's syndrome Microcephaly Small chin Low set ears Overlapping fingers Rocker bottom feet VSD/ASD PDA
What are rocker bottom feet?
Congenital vertical talus
Rare congenital foot deformity in which the sole of a child’s foot flexes abnormally in a convex position
What is trisomy 13? Give 4 features
Patau's syndrome Holoprosencephaly Structural eye defects Polydactyly Cutis aplasia Cardiac defect Renal defects
What is Turner’s syndrome? Give 4 features
45XO Downward turned mouth Downward slanting palpebral fissures Webbed neck Wide spaced nipples Lymphoedema Coarctation of the aorta Streak gonads Lack of secondary sexual development Short stature
What is Klinefelter’s syndrome? Give 4 features
XXY Infertility Hypogonadism Micro-orchidism Gynaecomastia Tall stature May have moderate learning difficulties
What is fragile X syndrome? Give 4 features
FMR1 gene mutation Long face Prominent ears Large chin Learning difficulty Macro-orchidism Connective tissue problems (flat feet, hyperflexibility) Behavioural characteristics (autistic, hand flapping, ADD)
What are the TORCH infections?
Common intrauterine infections
Toxoplasmosis Other (syphilis) Rubella CMV Herpes simplex virus
What are the signs/symptoms of CMV intrauterine infection?
Low birth weight Microencephaly Cerebral calcification Hepatosplenomegaly and jaundice Petechiae
How is intrauterine CMV infection treated?
Gancyclovir
What are the risks of CMV intrauterine infection?
Hearing loss Mental retardation Psychomotor delay Cerebral palsy Impaired vision
What are the signs/symptoms of rubella intrauterine infection?
Cataracts Microphthalmos Sensorineural hearing loss Thrombocytopenic purpura (blueberry muffin rash) Pulmonary artery stenosis PDA Hepatomegaly
What are the signs/symptoms of toxoplasmosis intrauterine infection?
Hydrocephalus/microcephaly Chorioretinitis Cerebral calcification Cerebral palsy Epilepsy
Give 4 features of foetal alcohol syndrome
Microcephaly Facial features - epicanthic folds, low nasal bridge, absent philtrum, thin upper lip, small chin Cardiac - VSD/ASD Growth retardation Limb abnormalities Learning difficulties Behavioural problems
Give 4 drugs which are teratogenic in pregnancy and 1 adverse effect
Phenytoin - foetal hydantoin syndrome (cleft palate, craniofacial abnormalities)
Sodium valproate - NTD
Carbamazepine - NTD
Lithium - Ebstein’s anomaly
Warfarin - frontal bossing, nasal hypoplasia
Tetracycline - discolouration of teeth
What is Ebstein’s anomaly?
Rare heart defect in which the tricuspid valve is not formed properly
What is Prader-Willi syndrome?
A complex genetic condition caused by loss of function of genes on chromosome 15 that affects many parts of the body
Give 4 features of Prader-Willi syndrome
Birth - hypotonia, feeding problems, hypogonadism
Later - failure to thrive, scoliosis
Hyperphagia, obesity, developmental delay, learning difficulties
Physical - almond shaped eyes, pale skin, light hair, small hands/feet, hypogonadism
Milestones
Gross motor - 6 weeks
Head held steady when pulled to sit
Head held steady when in ventral suspension
Head lifting in prone position
Milestones
Fine motor/vision - 6 weeks
Watching/staring
Fixing and following
Milestones
Hearing and speech - 6 weeks
Stills to mother’s voice
Milestones
Social - 6 weeks
Smiling
Milestones
Gross motor - 6-9 months
Pulls self from sitting to standing (6-12m)
Rolls over (6m)
Cruises (9-14m)
Milestones
Fine motor/vision - 6-9 months
Palmar grasp (6m)
Forgets fallen objects at 6m and follows at 9m
Transfers objects from one hand to the other (7m)
Milestones
Hearing and speech - 6-9 months
“Ma” “da” (6m)
Babbling/polysyllables e.g. “dada” “gaga” (9m)
Milestones
Social - 6-9 months
Objects to mouth
Enjoys baths
Stranger aware (9m)
Milestones
Gross motor - 1 year
Walking (8-18m)
Rise to sitting position from lying
Milestones
Fine motor/vision - 1 year
Casts objects
Pincer grip
Bangs things together
Milestones
Hearing and speech - 1 year
1-3 words with meaning
Turns to own name
Milestones
Social - 1 year
Comes when called
Co-operates with dressing
Drinks from cup
Waves bye
Milestones
Gross motor - 18 months
Throws toy without falling
Climbs stairs holding rail/two feet one step
Unsteady run
Milestones
Fine motor/vision - 18 months
Scribbles
Builds tower of 3-4 cubes
Milestones
Hearing and speech - 18 months
Points to body parts
Obeys simple instructions
10 words
Milestones
Social - 18 months
Lifts and drinks from cup
Spoon feeds self
Takes off shoes/socks/hat
Milestones
Gross motor - 2/2.5 years
Runs safely
Kicks ball
Jumps on spot
Milestones
Fine motor/vision - 2/2.5 years
Imitates vertical line
Builds tower of 6-8 cubes
Turns book pages one at a time
Milestones
Hearing and speech - 2/2.5 years
> 50 words
Phrases of 2-3 words
Gives own name
Milestones
Social - 2/2.5 years
Dry by day
No sharing, plays alone
Simple imaginative play
Milestones
Gross motor - 3/3.5 years
Stands on one leg momentarily
Climbs stairs normally
Rides tricycle
Milestones
Fine motor/vision - 3/3.5 years
Holds pencil properly
Builds tower of 9-10 bricks/bridge
Copies circle
Milestones
Hearing and speech - 3/3.5 years
Gives full name and sex
Counts to 10 at least
Understands meaning of under/over/in/out
Milestones
Social - 3/3.5 years
Pulls pants up and down alone
Plays with others
Eats with fork and spoon
Milestones
Gross motor - 4/5 years
Up and down stairs normally
Hops
Runs on tiptoe
Milestones
Fine motor/vision - 4/5 years
Copies squares and crosses (4y), draws triangle and stick man (5y)
Builds tower of >10 blocks
Matches and names 4 colours
Milestones
Hearing and speech - 4/5 years
Fluent, clear speech
Counts to 20 or more
Milestones
Social - 4/5 years
Brushes teeth
Shows sense of humour
Understands taking turns/sharing
Toilet trained (by 4y)
What is important to note about a delay in development?
Global (2 or more areas) or specific (1 area alone)
What is the difference between global developmental delay and intellectual developmental disability?
In practice the term “global developmental delay” can be used up to age 5, but should then be replace by “ intellectual developmental disability”
Give 4 antenatal causes of intellectual developmental disability
Genetic - chromosomal (Down’s syndrome), specific (fragile X), neurodegenerative (Rett syndrome), metabolic (PKU), familial
Acquired - FAS, drug exposure, rubella, infarct
Unknown - dysmorphic, brain malformation
Give 4 non-antenatal causes of intellectual developmental disability
Perinatal - intraventricular haemorrhage, hypoxic ischaemia, encephalopathy
Postnatal - NAI, RTA, cranial radiotherapy
Unknown - psychiatric (autism), neurological (epilepsy, cerebral palsy)
What is regression and what is its significance?
Loss of skills already acquired
Red flag - needs investigation/referral to paediatric neurologist
Give 3 causes of gross motor delay (e.g. delayed walking)
Cerebral palsy
DMD
Antenatal stroke
Part of global developmental delay (DS)
When should a child who is not walking be referred to a paediatrician?
18 months
Give 3 causes of speech delay
Familial Hearing impairment Poor social interaction/social deprivation ASD DMD Part of global developmental delay (DS)
What 2 initial things should be done in speech delay?
SALT referral
Hearing test
When should solids be introduced to a baby’s diet?
6 months
When should cow’s milk be introduced to a baby’s diet?
1 year
What is the risk if children exclusively drink milk after 6 months?
IDA
Give 2 pointers for managing fussy eaters
Encourage balanced varied diet
Disguise veg
Take diet history of a typical day
Need full fat milk and egg yolk
Outline typical sleeping requirements for newborns, 1 year olds and 2 year olds
Newborn - 16 hours
1 year old - 14 hours
2 year old - 12 hours
How are sleep problems in young children managed?
Do not stimulate if waking at night
Ensure quiet/safe environment
Wind down routine before bed
Severe may need referral and/or melatonin
How are behaviour problems in young children managed?
Listen to and reassure parents
Ask about any upheaval/bullying
Discourage negative language about the child
Consistent approach and routine
How should bruising in a very young child be managed?
A child who doesn’t walk should not be bruised - child protection issue
Accidental bruising occurs on bony prominences, NAI on soft areas
Give 3 common problems of growth and puberty in children
Short/tall stature Weight faltering/obesity Sexual precocity Delayed puberty Endocrine disorders Disorders of HPA Metabolic disorders Disorders of sexual development Calcium/vit D/phosphate disorders
What are the normal phases of growth and puberty?
Infantile phase - conception to 2 years
Childhood phase - 2 years until adolescent growth spurt
Pubertal phase - from adolescent growth spurt until final height
Describe the involvement of growth hormone and thyroxine in the infantile and childhood phases
Infantile - GH and thyroxine independent
Childhood - GH and thyroxine dependent
What is the role of oestrogen in early growth?
Stimulates GH and fused epiphyses in both sexes
What marks puberty in girls and boys?
Girls - breast development at 11 years
Boys - testicular enlargement at 11.5 years
When does menarche occur in girls?
13.5 years
When does the adolescent growth spurt reach its peak in boys and girls?
Boys - 14 years
Girls - 12 years
How do you calculate mid-parental height and target range for boys?
Plot father’s height
Plot mother’s height after adding 12.5cm correction factor
Mid-parental = average of father and corrected mother
Target = mid-parental +/- 8.5cm
How do you calculate mid-parental height and target range for girls?
Plot mother’s height
Plot father’s height after subtracting 12.5cm correction factor
Mid-parental = average of mother and corrected father
Target = mid-parental +/- 8.5cm
How is short/tall stature defined?
Short - >2 SD below mean (below 2.5th/2nd/3rd centile)
Tall - >2 SD above mean (97th/98th)
Define precocious puberty
Puberty beginning <8 years in girls and <9 years in boys
Define early/advanced puberty
Puberty beginning 8-10 years in girls and 9-11 years in boys
Give 4 causes of short stature
NIDSCED Normal genetic Constitutional delay in growth/adolescence Intrauterine growth retardation Dysmorphic syndromes Skeletal dysplasia Chronic systemic disease Endocrine disorders Dire social circumstances
What is weight faltering AKA and what are the 2 types?
Failure to thrive
Organic (e.g. malabsorption, cardiac/renal/respiratory) and non-organic (more common)
In absence of other clinical features, what does growth failure in a child indicate?
Growth hormone deficiency
What investigation should be done in a child with precocious puberty?
MRI
Give 3 typical features of a child with delayed puberty
Male Short Young for age Parents not short Bone age delayed
Give 2 features of GH deficiency
Rare
Isolated/with other deficiencies
Congenital/acquired
What is a craniopharyngioma?
Rare pituitary gland tumour which can cause GH deficiency
How is GH deficiency treated?
GH subcutaneous injection every night until final height is reached; may continue into adulthood
Give a cause of primary ovarian failure
Turner’s syndrome
Total body irradiation
Give 1 congenital and 1 acquired cause of primary hypothyroidism
Congenital - thyroid dysgenesis
Acquired - Hashimoto’s
What is the most common cause of polyuria and polydipsia in preschool children and how can it be managed?
Habit drinking
Banning flavoured drinks
Give 4 advantages of breastfeeding for the baby
Reduced mortality and morbidity Reduced infection Reduced SIDS Promotes gut development Improved cognitive ability Reduced autoimmune and cardiovascular disease
By what mechanism do babies draw milk from the breast?
Compression (not sucking)
Give 2 advantages of breastfeeding for the mother
Reduced breast and ovarian cancer
Reduced diabetes
Reduced postnatal depression
What are the 2 main types of infant formula milk? Give examples
Whey (60:40) - closer to breast milk; SMA/Aptamil/Cow & Gate First
Casein (80:20) - closer to cow milk; Aptamil Hungry, SMA Extra Hungry, Cow & Gate Infant Milk for Hungrier Babies
When might specialised infant formula be used?
Non-breast fed infant with medical condition (e.g. intolerance/allergy, preterm/weight faltering, enteropathy)
What foods should be avoided before 6 months?
Wheat/gluten rich (e.g. bread)
Eggs, fish, liver, shellfish
Nuts, peanuts, seeds
Cow milk, soft/unpasteurised cheese
What foods should be avoided before 1 year?
Honey
May be useful to avoid allergenic food - ongoing research
What vitamin supplements should be given to babies and when?
Health Start vitamins from 6 months to 4 years (unless drinking >500ml of formula)
What is considered as weight faltering/failure to thrive?
Abnormally large drop in weight centile
Low BMI
Slow height growth
Give 3 reasons why infants are more vulnerable to malnutrition
High growth rates Low stores Small size Higher levels of activity Higher morbidity Dependence on others for food
How is BMI calculated in children?
Same as adults but BMI chart needed to interpret
Give 3 reasons why a child may become overweight
Excess intake relative to expenditure Organic causes exceptionally rare Strong familial tendency Gene environment interaction Single gene defects rare, but polymorphisms common
Define developmental impairment
A condition of arrested or incomplete development of the mind, which is especially characterised by impairment of skills which contribute to the overall level of intelligence (e.g. cognitive, language, motor and social abilities)
Give 3 causes of developmental impairment
Prenatal - Down’s syndrome, Rett syndrome, PKU, tuberous sclerosis, FAS, rubella, brain malformation
Perinatal - intra-ventricular haemorrhage, ischaemic encephalopathy
Postnatal - radiotherapy, brain injury
Give 6 red flags for development that require assessment by neurology/other senior specialising in development
Regression Concerns about vision Hearing loss No speech by 18 months Suspected cerebral palsy Complex disabilities Head circumference >99.6th or <0.4th or crossed 2 centiles or disproportionate to parents Persisting immature patterns of behaviour Uncertainty
What milestone delays should be referred for assessment?
Cannot sit unsupported at 12 months
Cannot walk by 18 months (boys) or 2 years (girls)
Can only walk on tip toes
Cannot run by 2.5 years
Does not hold objects by 5 months
Does not reach for objects by 6 months
Does not point at objects of interest by 2 years
What is the role of child development centres?
See 0-19 year olds where there are concerns about development
Based in the local community
Aim for early intervention
Give 3 professionals who might be involved in a child’s health team in the community
Community paediatrician PT OT Health visitor SLT CAMHS Specialist nurse
What 3 domains are affected in ASD?
Social interaction
Social communication
Repetitive/ritualised behaviour
Give 4 symptoms of ASD
Poor eye contact
No interest in/difficulty with interacting
Speech unusual/delayed
Restricted behaviours
Follows own agenda
Wants things done in a particular way and has anxiety/tantrum if not
Severe dietary deficiencies
Define cerebral palsy
Umbrella term for children who have a central (brain) motor deficit which is non-progressive and has been caused in early life
Give 3 features suggestive of cerebral palsy
Premature Stormy neonatal course Developmental delay (motor) Preference for one hand (weakness) Feeding difficulties Impaired communication Problems with pain and sleep Seizures
What feeding problems can be encountered in children with cerebral palsy?
Lack of oro-motor skill development
Reflux and aspiration pneumonia
Poor weight gain
Malnutrition
What motor impairment problems can be encountered in children with cerebral palsy?
Spasticity
Dyskinesia
Posture problems
Hip dislocation
What is CPIPs?
Cerebral palsy in paediatrics surveillance - regular PT and ortho input; assessment and hip x-rays
What is nocturnal enuresis?
Bedwetting - involuntary wetting during sleep at least twice a week in children older than 5 years of age
What are the 2 types of nocturnal enuresis?
Primary - never achieved continence (+/- daytime symptoms)
Secondary - previously dry for >6 months
Give 2 causes of primary bedwetting without daytime symptoms
Lack of sleep arousal
Polyuria
Small capacity/overactive bladder
Give 2 causes of primary bedwetting with daytime symptoms
Overactive bladder
Structural abnormalities (e.g. ectopic ureter)
Neurological disorders (e.g. neurogenic bladder)
Chronic constipation
UTI
Give 2 causes of secondary bedwetting
Diabetes UTI Constipation Inadequate fluid intake Psychological Family problems Environment
How is bedwetting managed?
Investigate cause Explain and don't blame Advise on fluid intake Use rewards Consider alarm Consider desmopressin
What should be asked in the history of a child with constipation?
Frequency (<4/week) Bristol stool chart (3/4) Associated straining/bleeding/soiling Previous constipation/anal fissure Exclude - symptoms from birth, time meconium passed, ribbon stools, growth, leg weakness, abdominal distention with vomiting
What should be included in examination of a child with constipation?
Faecal masses in abdomen
Anal fissure
Rectal exam (should only be done by surgical team if warranted)
Spine/muscle/reflexes
How is constipation in a child managed?
Surgery - meconium ileus, Hirschprung’s
Test for coeliac disease - faltering growth, abdominal distension
Reassure and encourage good bowel habit (diet and fluid intake) - no underlying cause
Movicol disimpaction regime - impaction
What checks and immunisations are given at birth?
Baby checks, hearing (auditory brainstem response)
BCG (and hepatitis for high risk)
What checks are done at 5 days?
Blood spot/heel prick/Guthrie test
When is the first midwife appointment after birth?
10-14 days
What immunisations are given at 8 weeks?
DTaP/IPV/Hib
PCV
Rotavirus
What immunisations are given at 3 months?
DTaP/IPV/Hib
MenC
Rotavirus
What immunisations are given at 4 months?
DTaP/IPV/Hib
PCV
What immunisations are given at 12 months?
Hib
MenC
What immunisations are given at 13 months?
MMR
PCV
What immunisations are given at 2 years?
Influenza
What immunisations are given at 3.5 years?
DTaP/IPV
MMR
What 5 core conditions are tested for in the neonatal blood spot test?
PKU Congenital hypothyroidism CF Sickle cell disease MCADD (medium chain acyl-CoA dehydrogenase deficiency)
What 4 rare metabolic disorders are also tested for in the neonatal blood spot test?
Homocysteinuria
Maple syrup urine disease
Glutaric aciduria type 1
Isovaleric aciduria
What differential diagnosis headings should be used in an MSK consultation?
T - tumour, trauma
I - infection, inflammation
M - mechanical, muscular, metabolic
Describe the morphology and growth of long bones in children
Diaphysis (shaft) with metaphysis on either end, followed by the physis (growth plate) and then the epiphysis
Cartilaginous epiphysis gradually ossifies until it fuses with the metaphysis
How can bone age be estimated?
Using radiological features on wrist x-ray due to sequence of ossification of hand and wrist bones
Define enthesis
Point of insertion of a tendon/ligament/fascia/joint capsule onto bone; prone to mechanical, growth related and inflammatory stresses
What is Gower’s sign and what does it suggest?
Using hands to splint legs when rising from sitting
Muscle weakness; classically DMD
Give 5 red flag history features of leg pain
Nocturnal Unable to sleep due to unremitting pain Deep boring pain unresponsive to simple pain relief Loss of/altered function Unilateral and focused Persists during the day Persists every night Age - adolescents (bone tumours), any age (leukaemia), pre-school (neuroblastoma)
Give 3 red flag examination features of leg pain
Area of tenderness Mass Metaphyseal tenderness (marrow infiltration) Postural shift to minimise pain Neurological features Weight loss, fever, bruising, anaemia
Give 3 red flag investigation features of leg pain
Bone tumour - x-ray changes
ALL - signs of marrow failure and infiltration on FBC/film
Neuroblastoma - marrow infiltration, metastatic tumour on imaging, urinary VMAs and HVAs
Give 4 history features of benign leg pain
Wakes suddenly from sleep with cramp Resolves quickly with massage/pain relief Normal function Often bilateral or moves site May be exercise induced
What are the top 3 organisms causing septic arthritis?
Staphylococcus aureus
Streptococcus pneumoniae
Haemophilus influenza
Give 4 signs/symptoms of a child with septic arthritis
Joint - extremely painful, hot, swollen, red, pseudoparalysis
Fever
Headache
Other focus of infection - septicaemia, pharyngitis, meningitis, cellulitis
What age group needs to be carefully evaluated for septic arthritis and why?
Neonates - only physical sign may be irritability and pseudoparalysis
Give 3 differentiating factors between septic arthritis and transient synovitis/reactive arthritis
Pyrexia >38.5 in the last week
Inability to weight bear
ESR > 40
WBC > 12
How is septic arthritis managed?
A-E assessment and resuscitation if unwell Urgent aspiration (GA) with microscopy, gram stain, culture and sensitivity Blood cultures (2 minimum) High dose IV antibiotics
In what 2 ways does osteomyelitis present?
Classic - acutely unwell child, pyrexia, local erythema and tenderness
Subacute - recent varicella zoster infection, point tenderness at metaphyses, night pain, limp
How is osteomyelitis managed?
Blood cultures Bone aspiration (abscess) High dose IV antibiotics Splintage
Is an x-ray useful in diagnosing osteomyelitis and why?
No
Changes occur late so a normal x-ray does not exclude disease
What can cause a more insidious onset of septic arthritis/osteitis and how is this diagnosed?
TB
PCR quicker than cultures (6 weeks)
What is the most common cause of joint swelling in children?
Reactive arthritis
What causes reactive arthritis and how is it managed?
Viral/bacterial infection
Short lived, self-limiting
What are the differential diagnoses for reactive arthritis?
Rheumatic fever
HLA B27 associated reactive syndrome
Transient synovitis of the hip
Discitis
Rheumatic fever - cause, signs/symptoms, important labs and management
Cause - streptococcal infection
Signs/symptoms - carditis, arthritis, neurological features (Syndeham’s chorea), rash (erythema marginatum)
Labs - raised ESR/ASO titre/DNase B
Management - penicillin (and life-long penicillin prophylaxis)
HLA B27 associated reactive syndrome - cause, signs/symptoms and management
Cause - post-enteric/genitourinary infection (shigella, e.coli, salmonella, STI)
Signs/symptoms - urethritis, conjunctivitis, plantar fasciitis
Management - self-limiting
Transient synovitis of the hip - cause, signs/symptoms, important investigations and management
Cause - idiopathic, preceded by infection
Signs/symptoms - hip pain, limp, flexed and externally rotated hip, referred knee pain
Investigation - USS, mildly raised WCC/ESR
Management - analgesia, resolved in 1 week
Transient synovitis of the hip - cause, signs/symptoms, important investigations and management
Cause - unknown
Signs/symptoms - refusing to walk, low grade fever, localised lumbar tenderness
Investigation - MRI
Management - self-limiting
What is juvenile idiopathic arthritis?
Group of conditions all including childhood onset of chronic inflammatory arthritis of unknown aetiology
Give 3 features of juvenile idiopathic arthritis
Persistent joint swelling
Inflammatory features - early morning stiffness, warmth
Asymptomatic chronic anterior uveitis (1/3)
Name 2 vasculitis conditions which are more common in children than adults
Henoch-Schonlein purpura
Kawasaki disease
Give 4 early features of Kawasaki disease
High and persistent fever >39.5 for 5 days Rash Red palms, soles and perineum Miserable (reflecting aseptic meningeal irritation) Mucositis Non-purulent conjunctivitis Arthritis High platelet count Lymphadenopathy High acute phase response
Give 2 late features of Kawasaki disease
Coronary artery aneurysms Peeling skin Cardiac ischaemia Myocardial infarction Claudication (other aneurysms)
How is Kawasaki disease treated?
IVIG
Give 2 malignancies of childhood which cause an MSK presentation
Leukaemia - ALL, AML
Neuroblastoma
Primary bone - Ewing’s sarcoma, osteosarcoma
What classification system is used for fractures near/involving the growth plate?
Salter-Harris classification
What type of physeal fractures need referral to orthopaedics and why?
Salter-Harris type III and IV
Intra-articular - high risk of growth disturbance, need surgery
Give 2 fracture types which occur in children but not adults
Buckle fracture
Plastic deformation
Greenstick fracture
How is fracture healing time estimated?
‘Age in years + 1’ weeks
Physeal fractures heal in 2-3 weeks
How should you ensure non-accidental injury is not missed?
Consider in every child
Take accurate history
Examine child by undressing fully
Inform a senior about any concerns
Refer concerns of sexual abuse urgently to child protection
Ensure child is safe before leaving them
Consider other children in the family
What is Legg-Calve-Perthes disease?
Necrosis of part of the femoral capital epiphysis, a growth disturbance in the physeal and articular cartilage which can lead to deformity of the femoral head and degenerative joint disease
Who most commonly gets Perthes disease? How does it present?
4-8 year old boys
Groin/knee pain, limp, reduced hip abduction and internal rotation
Give 3 things associated with SUFE
Early adolescence Obesity Hypothyroidism Chronic renal failure Previous radiotherapy Growth hormone therapy
How does SUFE present?
Insidious onset hip pain referred to knee
Limp
Externally rotated and shortened leg
How is SUFE diagnosed and managed?
X-ray - frog leg position
Surgery - pinning
What is a slipped upper femoral epiphysis?
The head of the femur slips off posteriorly for reasons that are not known
What is DDH?
Neonatal hip instability
Acetabular dysplasia with or without subluxation
Frank dislocation of the hip joint
What are the main risk factors for DDH?
First degree relative family history
Female
Breech after 35 weeks
Foot deformity
What signs are indicative of DDH on newborn hip examination?
Presence of risk factors Asymmetrical groin skin creases Leg length discrepancy Reduced hip abduction Barlow (dislocatable) or Ortolani (relocatable) positive
How is DDH managed?
Baby - splint in abduction using Pavlik harness
Older child - cast (closed reduction) or surgery
>3 years old - open reduction and osteotomy
What is talipes equinovarus?
Clubfoot - deformity of the ankle (tal) and foot (pes) which results in the heel pointing downwards (equinus) and inwards (varus) and the sole pointing medially
What are the 2 types of clubfoot and how are they treated?
Fixed - Ponseti technique (plaster casts changes weekly, cutting of Achilles, abduction foot orthosis), surgery
Positional - stretching
What is the most common deformity of the spine in childhood?
Scoliosis
Give 2 causes of scoliosis
Leg length discrepancy
DMD
Cerebral palsy
Idiopathic
Give 5 red flag features for back pain
<4 years old Night pain Functional disability Postural shift >4 week duration Limitation of movement Neurological signs
How is a normal variant diagnosed?
5 S’s - if a child presents with a symmetrical deformity, with no symptoms, underlying systemic illness or skeletal dysplasia and there is no stiffness on examination then it is likely that they have a normal variant
Give 2 examples of normal variants
In-toeing Out-toeing Knock knees Bow legs Flat feet Curly toes
What is Osgood-Schlatter’s syndrome?
Common overuse syndrome typically occurring in boys aged 11/12 who are physically active
What are the signs/symptoms of Osgood-Schlatter syndrome?
Pain over tibial tuberosity at insertion of patellar ligament
Swelling
Tenderness
What signs/symptoms are indicative of anterior knee pain and how is it managed?
Pain at front of knee, may radiate to back, aggravated by squatting/climbing stairs/flexing knee, tenderness over patella
Activity modification to avoid precipitating factors, quadriceps strengthening exercise
What are the 4 MSK components of baby checks?
Erb's palsy Supernumerary digits Foot deformities Hip examination for DDH Congenital muscular torticollis
Give 3 causes of Rickets
Vitamin D deficiency Calcium deficiency Hypophosphataemia Vitamin D dependent Hypophosphatasia
What signs/symptoms are indicative of a pulled elbow and how is it managed?
Crying toddler, refusal to move elbow
Reduction via supination and pronation of the forearm with elbow flexed
What signs/symptoms are indicative of a pulled elbow and how is it managed?
Crying toddler, refusal to move elbow
Reduction via supination and pronation of the forearm with elbow flexed
What is cerebral palsy?
A dynamic/changing disorder of posture and movement caused by a non-progressive lesion to the developing brain
Give 3 causes of cerebral palsy
Antenatal – toxins, teratogens, infection
Perinatal – hypoxic insult, sepsis
Postnatal – meningitis, trauma
Define spastic, dystonic, dyskinetic and ataxic
Spastic – increased tone
Dystonic – muscle spasm
Dyskinetic – increased activity
Ataxic – impaired co-ordination
Define tetraplegic, hemiplegic and diplegic
Tetraplegic – all 4 limbs; lesion to both hemispheres (e.g. global hypoxic ischaemic injury)
Hemiplegic – 1 side of the body; lesion to one hemisphere (e.g. antenatal stroke)
Diplegic – lower limbs; lesion of white matter at back of brain (e.g. periventricular leukomalacia in prematurity)
Define plegia, paresis and dystonia
Plegia – paralysis
Paresis – weakness
Dystonia – muscle spasm not dependent on stretch
Give 3 co-morbidities in cerebral palsy
Epilepsy Learning disability Behaviour problems Feeding problems/GORD Osteoporosis
How is cerebral palsy managed?
Define cause
Support
MDT – paediatrician, PT, OT, SLT, dietician, nurse specialist
Manage co-morbidities
Prevent deformity – PT, botulinum toxin, surgery
How much folic acid is advised in pregnancy?
400 micrograms/day 1 month prior to conception onwards
What are the signs/symptoms of spina bifida?
Flaccid weakness of lower limbs
Absent reflexes
Lack of sensation
Difficulty walking – varied level
What is a myelomeningocele?
Outpouching of the spinal cord and its coverings through a defect in the posterior aspect of the vertebral arches
What problems are associated with a myelomeningocele?
Mobility Sensation Bladder and bowel function Hydrocephalus Learning difficulties
What is a Chiari malformation?
Structural defect in the cerebellum, characterized by a downward displacement of one or both cerebellar tonsils through the foramen magnum
What is cerebral perfusion pressure?
MAP-ICP
What are the clinical signs of raised ICP in an infant/child?
Inconsolable crying Irritability Vomiting Headache Tense fontanelles Lethargy Visual disturbance Fluctuating level of consciousness Abnormal pupils Seizure Motor disturbance
How is raised ICP managed?
A-E assessment Tilt patient head up Consider mannitol Treat underlying cause CT scan when stable Surgical decompression
What is the difference between DMD and Becker muscular dystrophy?
Both mutations in X linked dystrophin gene
In Becker, there is weakness but a significant amount of dystrophin is preserved
Give 2 signs/symptoms of muscular dystrophy
Muscle weakness Positive Gowers sign Lumbar lordosis Calf muscle hypertrophy Learning problems in some
What investigations are done in suspected DMD?
Creatine kinase (raised) DNA testing for mutation
What is an epileptic seizure?
An epileptic seizure is a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain
Define epilepsy
Epilepsy is a disease of the brain defined by any of the following conditions:
1. At least two unprovoked seizures occurring more than 24 hours apart
2. One unprovoked seizure and a probability of further seizures similar to the
general recurrence risk after two unprovoked seizures (approximately 75% or more)
3. At least two seizures in a setting of reflex epilepsy
When can a diagnosis of epilepsy no longer be applicable?
If it was an age-dependent epilepsy syndrome and the child has now passed the applicable age
If the patient has been seizure free for at least 10 years off medications
Give 4 things you’d want to ask about in the history of someone who has suspected epilepsy
Witness history Where When What was the patient doing First signs Detailed description Aftermath Timing Video available?
What are the differential diagnoses for an epileptic seizure?
Syncopes and anoxic seizures (faints and abnormal movements associated with faints) Psychological/behavioural disorders Derangements of the sleep process Paroxysmal movement disorders Migraine equivalents Miscellaneous neurological events
How are childhood epilepsy syndromes diagnosed?
Based on age at onset, seizure type(s), neurological findings, aetiology, EEG features
What is positional plagiocephaly?
Condition in which specific areas of an infant’s head develop an abnormally flattened shape and appearance
How can positional plagiocephaly be prevented/improved?
Encourage playing on stomach
Position toys/people/objects of interest on less preferred side
Limit time in bouncer/car seat
At what age can children experience a febrile convulsion?
6 months - 5 years
What is the relationship between febrile seizures and epilepsy?
3% will progress to epilepsy
Give 3 signs of respiratory distress
Recession - sternal/subcostal/intercostal
Nasal flare
Head bobbing
Tracheal tug
What is Harrison’s sulcus?
Bilateral depression on the side of the chest wall along the costal margins where the diaphragm inserts - sign of chronic asthma
How should a respiratory examination be ended?
Palpate liver edge
Plot child’s height and weight on growth chart
Offer to do an ENT exam and check cervical lymph nodes
Offer to measure PEFR in >5 year olds
Give 4 differentials for an acute cough
Upper respiratory tract infection Croup Bronchiolitis Pneumonia Acute exacerbation of asthma Viral induced wheeze Pertussis Inhaled foreign body
Give 2 differentials for a chronic cough
Asthma
Infection
GORD
Chronic illness (CF, Kartagener syndrome)
Extrinsic compression of trachea/bronchus by enlarged heart/glands/tumour
Give 2 differentials for acute stridor
Croup (acute laryngotracheobronchitis) Acute epiglottitis Bacterial tracheitis Inhaled foreign body Retropharyngeal abscess Acute angioneurotic oedema Vascular rings
Stridor - age, onset, respiration, cough, drooling, appearance, hypoxia
Age - 2-7 years Onset - hours Respiration - laboured Cough - mild Drooling - yes Appearance - pale Hypoxia - frequent
Croup - age, onset, respiration, cough, drooling, appearance, hypoxia
Age - 1-3 years Onset - 1-2 days Respiration - increased Cough - moderate Drooling - no Appearance - anxious Hypoxia - unusual
Foreign body - age, onset, respiration, cough, drooling, appearance, hypoxia
Age - >6 months Onset - sudden Respiration - variable Cough - severe Drooling - no Appearance - normal Hypoxia - variable
What are the cause, symptoms and treatment for croup?
Parainfluenza Hoarse voice, barking cough, stridor Oral dexamethasone (and nebulised adrenaline if severe), do not upset the child
Give 2 bacterial and 2 viral causes of pneumonia
Bacterial - S.pneumoniae, mycoplasma (5-14 years), group B strep (neonates)
Viral - RSV, influenza, parainfluenza
What is bronchiolitis?
Acute lower RTI with inflammation of small airways affecting infants
What causes bronchiolitis?
RSV (50-90%)
Parainfluenza
Influenza A
Rhinovirus
What are the clinical features and course of bronchiolitis?
Cough, dyspnoea, hyperinflation, recession, fine crepitations, wheeze
5 day incubation, 1-3 days of coryza, lower RTI symptoms between day 3-5, total 7-21 days
How is bronchiolitis managed?
Oxygen if hypoxic
NG feeds/IV fluids if poor feeding
Give 3 pathophysiological features of asthma
Triggered (cold weather, exercise, stress, virus) Bronchial hyper-responsiveness Smooth muscle constriction Thickening/oedema of bronchial wall Mucus hypersecretion
Give 6 important features of the history to illicit in asthma
Wheeze, cough, nocturnal cough, triggers, SOB, chest tightness
Age of onset
Severity - number of admissions, steroids
Current medication
Family/personal history of atopy
Days off school
Damp in house
What are the 5 steps of asthma treatments from the BTS?
1 - mild intermittent; SABA
2 - add regular inhaled steroid preventer BD
3 - add LABA (> 5 year olds), increase inhaled steroids
4 - consider leukotriene receptor antagonist
5 - continuous/frequent use of oral steroids
What inhalers and devices are there?
Inhaler - pressurised metered dose inhaler
Devices - spacers, dry powder (>8 years old)
Describe the genetics of cystic fibrosis
Autosomal recessive disorder
1 in 25 Caucasian people carry the gene
Mutation in CFTR gene (commonly Delta F508) on chromosome 7 which causes abnormal CFTR protein
What is CF?
Multisystem disorder of exocrine gland function involving multiple organ systems including lungs, pancreas, sinuses and reproductive tract, resulting in chronic respiratory infections and pancreatic enzyme insufficiency
What is the role of normal CFTR?
Allows chloride ions out of a mucosal cell and into the lumen; defect causes thickened secretions
What does CFTR stand for?
Cystic fibrosis transmembrane conductance regulator
What is the principal cause of death in CF?
Lung disease - haemophilus influenzae, staphylococcus aureus
What effect does CF have on fertility?
98% males infertile due to congenital bilateral absence of vas deferens
Reduced fertility in females due to abnormal cervical mucus
What ENT features are associated with CF?
Nasal polyps
Sinusitis
What respiratory features are associated with CF?
Cough Purulent sputum Pneumonia Bronchiectasis Chest deformity Respiratory failure
What features of poor growth are associated with CF?
Increased metabolic demand
Poor weight gain and FTF
Short stature
What GI features are associated with CF?
Pancreatic insufficiency Distal intestinal obstruction syndrome Meconium ileus at birth (15%) Biliary stasis and liver cirrhosis Poor fat absorption causing deficiency in fat soluble vitamins (ADEK) Steatorrhoea Rectal prolapse
What endocrine feature is associated with CF?
Diabetes
How is CF diagnosed?
Neonatal screening - immunoreactive trypsin (IRT) levels on blood spot
If positive, sent for genetic testing
How does CF normally present in neonates?
Meconium ileus
Failure to thrive
Recurrent chest infection
Malabsorption
How is CF managed?
Daily PT Daily antibiotics (flucloxacillin prophylaxis) Creon Fat soluble vitamin supplements High calorie diet
How is an exacerbation of CF treated?
Double dose of prophylactic antibiotics
Planned 2nd line antibiotics
May require admission for IV (portacath may be useful)
On cardiovascular examination, what does absence, weakness or delay of femoral pulse compared with right radial or brachial pulse suggest?
Coarctation of the aorta
On cardiovascular examination, what does collapsing pulse suggest?
Patent ductus arteriosus
What are the 2 types of heave which may be felt during cardiovascular examination of an infant?
Parasternal
Subxiphoid
What are the 2 types of thrill which may be felt during cardiovascular examination of an infant?
Precordial
Suprasternal
What does a suprasternal thrill suggest?
Aortic stenosis
On cardiovascular examination, why is the liver palpated?
Enlarged in heart failure
Percussed to ensure downward displacement is not due to lung hyper-expansion
Why is it useful to auscultate between scapulae in a CV exam?
Listen for coarctation
What heart sounds may be heard on CV exam?
1st - may be normally split
2nd - normally split (wider on inspiration)
3rd - normal in some
4th - always abnormal
How should murmurs be assessed/recorded?
Loudness - grade 1- 6; presence of a thrill = graded >4
Timing - systolic, diastolic or continuous
Duration - ejection, mid or pansystolic
Site - loudest point
Radiation (e.g. back in coarctation)
How is a blood pressure cuff measured?
Cuff size two-thirds the length of the outer aspect of the upper arm or thigh
Give 4 features of an innocent murmur
Asymptomatic No thrill/heave Soft systolic murmur Varies with position Localised to one area
Name 4 acyanotic congenital heart lesions
VSD Pulmonary stenosis ASD Coarctation of the aorta PDA
Name 3 cyanotic congenital heart lesions
Tetralogy of Fallot
Transposition of the great arteries
Tricuspid atresia
Pulmonary atresia
Give 3 causes of cyanosis
Respiratory Cardiac Seizure Stress (infection, hypoglycaemia, adrenal crises) CNS depression (drugs, trauma, asphyxia)
Give 3 cardiac causes of cyanosis
Neonatal - TGA, persistent hypertension of the newborn, pulmonary atresia, hypoplastic left heart syndrome
Infant - ToF
Child - pulmonary HTN
Give 3 common causes of cardiac failure
Cardiac - PSA, hypoplastic left heart, coarctation, cardiomyopathy, critical aortic stenosis, ASD, VSD
Stress - fever, hypoxia, infection, acidosis
Anaemia
Fluid overload
What chromosomal abnormality is associated with aortic stenosis, coarctation of aorta and bicuspid aortic valve?
Turner’s syndrome
What chromosomal abnormality is associated with atrioventricular septal defect, VSD, ASD and tetralogy of Fallot?
Down’s syndrome
What chromosomal abnormality is associated with conotruncal abnormalities?
Di George syndrome
Tetralogy of Fallot, truncus arteriosus, interrupted aortic arch type B, transposition of the great arteries, double-outlet right ventricle, double-outlet left ventricle, anatomically corrected malposition of the great arteries
What types of atrial septal defect are there?
Patent foramen ovale Ostium secundum defect Ostium primum defect Sinus venosus defect Coronary sinus defect
Where would an ostium primun defect be found?
Crux of the heart - middle between atria and ventricles
Where would an ostium secundum defect be found?
Centre of atrial septum
What is the timeline of atrial septal defect?
Asymptomatic in childhood, picked up as incidental murmur -> SOB and arrhythmia later in life
How is atrial septal defect treated? What is its prognosis?
Primum/secundum - surgical repair
Secundum only - transcatheter device closure
Good long term prognosis
How are VSDs classified?
Membranous or muscular
Small, moderate or large
How are VSDs treated?
Small will spontaneously close
Large will be repaired in first 6 months of life
What problems are caused by VSD?
Left ventricular overload
Increased pulmonary blood flow
Cardiac failure
What is PDA associated with?
Prematurity
Rubella
Give 2 examination findings in PDA
Bounding femoral pulses
Continuous subclavicular murmur
What problems are caused by PDA?
Heart failure
Failure to thrive
How is PDA treated?
Neonates - NSAIDs, surgical ligation
Older - device occlusion by cardiac catheter
How does coarctation present?
Neonates - collapse, cardiac failure, weak/absent femoral pulses
Older - HTN, radio-femoral delay
What x-ray features may be seen in coarcation?
Cardiomegaly
Rib notching
How is coarctation treated?
Younger - surgery
Older - balloon stent
What is the commonest neonatal cyanotic cardiac condition?
TGA
How is TGA treated?
Prostaglandins or balloon atrial septostomy - keep PDA to allow mixing of separate circulations
Definitive - arterial switch
What x-ray feature may be present in TGA?
Egg on string
What are the components of tetralogy of Fallot
VSD
Right ventricular outflow tract obstruction
Overriding aorta
Right ventricular hypertrophy
In what congenital cardiac condition is polycythaemia characteristic?
ToF
What x-ray feature may be present in ToF?
Boot shaped heart with upturned apex
How does endocarditis present?
Fever Malaise Weight loss Arthralgia Haematuria Splenomegaly Splinter haemorrhages
How does endocarditis present?
Fever Malaise Weight loss Arthralgia Haematuria Splenomegaly Splinter haemorrhages
Give 3 causes of hepatomegaly
Infection - viral, bacterial, fungal, parasitic Congestive cardiac failure Infiltration - neuroblastoma Storage - CF, glycogen storage disease Idiopathic
Give 3 causes of splenomegaly
Malaria Sickle cell Hereditary spherocytosis Thalassaemia Portal HTN Neoplasm
Give 3 causes of hepatosplenomegaly
EBV CMV Portal HTN Leukaemia Lymphoma Thalassaemia Idiopathic
Give 3 problems caused by reflux
Vomiting Distress Apnoea Failure to thrive Aspiration pneumonia
How much should neonates be feeding for the first few months of their lives?
150ml//kg/day
How is reflux treated?
Antacids
Omeprazole
(Ranitidine)
Give 4 causes of rectal bleeding
Anal fissure Swallowed blood Gastroenteritis Hiatus hernia Peptic ulcer Meckel's diverticulum Intussusception IBD
Give 3 risk factors for IBD
FH IBD FH thyroid disease/RA Parental smoking Bottle feeding Peri-anal signs
Give 3 causes of haematemesis
Swallowed blood Repeated vomiting Acute gastritis Hiatus hernia Drugs (aspirin, iron) Peptic ulcer Bleeding disorder Oesophageal varices
What are the signs/symptoms of coeliac disease in infants
Pale and bulky stool
Distended abdomen
Wasted buttocks
What test is used for coeliac disease?
Tissue transglutaminase (TTG-IgA)
When is duodenal mucosal biopsy required to diagnose coeliac disease? What will it show?
Patients who have moderately elevated TTG
Villous atrophy
Crypt hyperplasia
Increased intraepithelial lymphocytosis
Give 3 causes of acute diarrhoea
Rotavirus/enterovirus E.coli/salmonella/campylobacter Staphylococcal toxin (food poisoning) Pneumonia (response to infection) Starvation Intussusception/pelvic appendicitis/Hirschprung's
Give 3 causes of chronic diarrhoea
Toddler's diarrhoea Constipation with overflow Post infectious food intolerance IBD Malabsorption (CF, IBD)
How is chronic diarrhoea investigated?
Stool - culture and sensitivity, C.diff toxin, virology Bloods - FBC, CRP, LFTs, ESR Serum TTG Faecal calprotectin Peri-anal inspection
Give 3 medical and 3 surgical causes of acute abdominal pain
Medical - infection (gastroenteritis, pneumonia, mesenteric adenitis, UTI), constipation, HSP, nephritis, DKA, sickle cell, lead poisoning
Surgical - appendicitis, intussusception, volvulus, strangulated hernia, testicular/ovarian torsion
What virus is responsible for 60% of gastroenteritis cases in <2 year olds, especially in winter?
Rotavirus
How is gastroenteritis managed?
Rule out surgical/other causes
Assess and manage dehydration - ORS/IV fluids
Give 5 clinical signs of dehydration
Dry mucous membranes Sunken fontanelles Depressed level of consciousness Sunken eyes Tachypnoea Tachycardia Prolonged CRT Decreased skin turgor Weight loss Oliguria
How long can viral gastroenteritis last?
2-10 days
What questions should be asked in the history of a bruised child?
Spontaneous vs following injury Acute or chronic problem Mucosal bleeding (thrombocytopaenia, Von Willebrand) Internal bleeding (clotting deficiency) Recent infection (leukaemia, BMF, ITP) DH (acquired aplastic anaemia) FH
What features should be looked for on examination of a bruised child?
Signs of systemic infection/raised ICP/trauma/anaemia Site, number and severity of bruises Mucosal bleeding Hepatosplenomegaly Lymphadenopathy Painful swollen joints Congenital abnormalities Consider NAI - ophthalmic exam
What investigations should be done in a bruised child?
FBC
Coagulation
Other tests depend on examination findings
What further investigations/initial management should be done in a bruised child with sepsis?
Blood cultures
Infection screen
IV antibiotics
What further investigations/initial management should be done in a bruised child with major haemorrhage?
Crossmatch
Identify source and stop bleeding
Administer volume expanders
Correct DIC/thrombocytopaenia
What further investigations/initial management should be done in a bruised child with DIC?
Blood cultures
Antibiotics Fluids Inotropic support Ventilation Correct coagulopathy
What further investigations should be done in a bruised child with a suspected hereditary coagulation disorder?
Clotting factor assay
Platelet aggregation studies
What further investigations should be done in a bruised child with suspected acquired haematological condition (e.g. HSP)?
BP
Urinalysis
Abdominal USS
What further investigations should be done in a bruised child in which NAI is suspected?
Skeletal survey
CT (<1 year old)
Retinoscopy
Give 4 causes of low/abnormal platelets
Malignancy - leukaemia, lymphoma
BMF - aplastic anaemia, Fanconi’s anaemia
Inherited - Glanzman’s thrombasthenia, Wiskott Aldrich syndrome, TAR syndrome, Bernard Soulier, congenital amegakaryocytic thrombocytopenia
Microangiopathic haemolytic anaemia - HUS, congenital thrombotic thrombocytopenia
ITP
How does ITP present?
1-5 years old Platelets <20 Acute onset bruising/petechiae Epistaxis following viral illness in clinically well child No atypical features on exam
When would a bone marrow aspirate be indicated in suspected ITP and what would it show?
If atypical signs present or failure to resolve spontaneously
Normal megakaryocyte number (peripheral destruction by platelet antibodies)
What are the complications of ITP?
Intracranial haemorrhage
Chronic ITP
How long does ITP take to resolve?
90% by 6 months
How is ITP managed?
Careful observation and avoidance of high impact activities
Platelet transfusion if bleeding (will be destroyed rapidly)
IVIG
Consider steroids (consult haematologist) or splenectomy
What is ITP?
Immune thrombocytopaenic purpura - a bleeding disorder in which the immune system destroys platelets, reducing the ability to form clots
What is HSP?
Vasculitis caused by deposition of IgA containing immune complexes in capillaries, arterioles and venules
How does HSP present?
Skin - purpura over extensor surface of lower limbs and buttocks
Joints - non-erosive arthritis of the ankles/knees/elbows
GI - colicky abdominal pain, nausea and vomiting, blood and mucus PR, possible intussusception
Renal - haematuria, proteinuria, HTN
What investigations should be done in suspected HSP?
No specific diagnostic test FBC, CRP, ESR Urinalysis BP, abdominal USS Renal/skin biopsy - IgA deposition
What is the prognosis of HSP?
Usually spontaneously resolves but can recur in young children
How is HSP managed?
Supportive - analgesia, monitor renal function/urinalysis/BP, monitor for intussusception
Give 4 risk factors for IDA
Premature LBW Multiple births Exclusive breastfeeding >6 months Delayed weaning Excessive cow's milk Adolescent female Social deprivation Strict vegan diet
How is IDA treated?
Iron supplements
Iron rich diet
Vitamin C (increases absorption)
Continue treatment for 3 months after Hb normalises
What causes leukaemia?
Ionising radiation
Genetic predisposition - Trisomy 21, Fanconi’s anaemia
What is the most common type of leukaemia in children?
Acute lymphoblastic leukaemia (ALL)
How does leukaemia present?
BMF - anaemia, pallor, dyspnoea, increased infection, bruising, epistaxis Bone pain/limp Hepatosplenomegaly Lymphadenopathy Testicular enlargement Cranial nerve palsies Meningism
How is leukaemia diagnosed?
FBC Blood film BM aspirate LP Coagulation U&Es LDH CXR
Give 3 poor prognostic factors for leukaemia
Age <1 or >10 Male T cell lineage WCC >50 at presentation Philadelphia chromosome t(9,22) Failure to rapidly respond to chemotherapy
How is leukaemia treated?
Multi drug chemotherapy
+/- radiotherapy/bone marrow transplant
Name 2 inherited clotting disorders
Haemophilia
Von Willebrand’s disease
What factor is deficient in haemophilia A?
Factor 8
What factor is deficient in haemophilia B?
Factor 9
How is haemophilia diagnosed and treated?
Diagnosed - isolated prolonged APTT, specific factor deficiency
Treatment - recombinant factor administration IV
What is Von Willebrand’s disease?
Mostly AD deficiency or abnormality of factor 8 causing reduced platelet adhesion
How is VWD diagnosed?
Prolonged APTT
Reduced factor 8
No platelet aggregation on Rostocetin co factor assay
How is VWD treated?
Desmopressin prophylaxis or recombinant factor 8 for bleeding episodes
What questions should be asked in the history of a patient with lymphadenopathy?
Timing
Rate of progression
Site - localised/generalised
Associated symptoms - cough, coryza, sore throat, trauma
Systemic features suggesting malignancy - fever, night sweats, weight loss, pruritis, malaise
How should lymphadenopathy be examined?
Site Size and number Tenderness Overlying skin changes Fluctuance
Give 3 features suggestive of malignancy in a patient with lymphadenopathy
Supraclavicular or epitrochlear site Associated systemic symptoms Hepatosplenomegaly Other palpable masses Signs of BM infiltration (anaemia, bruising)
Give 3 malignant causes of lymphadenopathy
ALL, AML Lymphoma Hodgkin's disease Neuroblastoma Rhabdomyosarcoma
Give 3 infectious causes of lymphadenopathy
Bacterial lymphadenitis (staph, strep) Viral (URTI, EBV, CMV, HIV, ZVZ) Cat scratch disease (Bartonella henselae) TB Atypical mycobacterium
Give 3 autoimmune causes of lymphadenopathy
Kawasaki's disease JIA SLE Sarcoidosis Drug reaction
What investigations may be carried out for lymphadenopathy (depending on history and exam findings)?
Bloods - FBC and film, ESR, CRP, blood cultures Virology - throat swab, serology Mantoux test Radiology - CXR, USS, CT Surgical - lymph node biopsy
