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