Paediatrics Flashcards
Who can complete then routine examination of the newborn
Hospital paediatrician
Advanced neonatal nurse Practitioner
GP
Specially trained nurse/midwife
Routine examination of newborn
Head to toe
Completely undressed
- Skull shape, maximum circumference, fontanelles
- Face: any dysmorphisms, examine for cleft palate
- Ears: position, size, shape, patency
- Neck
- Chest: shape, symmetry, nipple position. RR 40-60, palpate precordium
- Abdomen: look at umbilical stump, inguinal hernias, palpate organs
- Genital: female inspect. male - urinary meatus, descended testes
- Femoral pulses
- Anus: patency
- Spine: deformity, dimple, naevi, hair
- Limbs: tone. Digit number. Clubbed foot, palmar creases
- DDH
- CNS: tone (should be flexed at hip and knee), pull baby to sitting by holding wrists. Ventral suspension
Moro reflex
Moro reflex
Act as if to drop the baby
Arms should extend and then flex
If bilateral absence then CNS damage
If unilateral then birth trauma e.g. Erb’s palsy
Define vernix
Normal cheesy white substance on the skin of baby at birth
Skull molding
Over riding skull bones
Palpable ridges
Normal
Resolves in 2-3 days
Caput succedaneum
Swelling or oedema on new born scalp
From prolonged pressure during delivery
Resolves in a few days
Chignon
Temporary swelling of infants head after ventouse suction cap
Increases rate of jaundice
Cephalhaematoma
Bruise on neonates head from prolonged stage 2 of labour or instrumental delivery
Subperisoteal
Boundaries are limited by bone margins
Subconjuctival haemorrhage in newborn
Can happen in precipitate delivery (<2 hours) or if cord around neck
Harmless
Will resolve in a few weeks
Be careful if later than newborn as can indicate abuse
Epstein’s peals
Self resolving white inclusion cysts on palate
Tongue tie
Shortened tongue frenulum
Ranula
Self resolving bluish mouth floor swelling
mucus retention cyst
Retracted testes
Due to exaggerated cremastus muscle
Palpate along to determine location of testes
Mongolian blue spot
Normal birth mark
Increased in Asian and Africans
Erythema toxicum
Normal neonatal rash
Erythematous base with small pustules
Unknown cause
Primitive reflexes
Rooting Grasping Moro Walking Sucking Asymmetrical tonic neck reflex - fencing posture Galant reflex Swimming reflex
Describe grasping reflex
Baby will grasp anything in palms
Disappears at 5-6 months
Describe asymmetrical tonic neck reflex
Fencing posture
Present from 1-4 months
When head is turned to the side, the arm on that side will straighten , opposite will bend
If >6months then UMN disorder
Characteristics of pathological heart murmur
All Diastolic All Pansystolic Late systolic murmurs Loud murmurs > 3/6 Continuous murmur Associated cardiac abnormalities Heard over upper L sternal border
Symptomatic:
SOB, easy fatigue, cyanosis, FTT, clubbing, hepatomegaly
Characteristic of innocent heart murmur
Always systolic Short duration Low intensity Increases with increased cardiac output Intensity can change with posture no thrill or heave No radiation No symptoms
Predisposing conditions for heart murmurs
Down's Noonan's Turner's Marfan's Foetal alcohol syndrome Foetal rubella infection
Still’s murmur
Innocent murmur Mid L sternal border Mid-systolic Grad 2-3 Twanging, musical, vibrating sound
Pulmonary flow murmur
Innocent murmur Upper L sternal border Mid systolic Grade 1-3 Grating
Acyanotic causes of congenital heart disease
Ventricular septal defect Atrial septal defect Patent Ductus Arteriosus Pulmonary valve stenosis Coarctation of the aorta Hypoplastic left heart syndrome Hypertrophic obstructive cardiomyopathy Dextrocardia
Cyanotic causes of congenital heart disease
Tetralogy of fallot Transposition of great arteries Tricuspid atresia Total anomalous pulmonary drainage Persistent truncus arteriosus Ebstein's abnormality
Epidemiology of congenital heart disease
8 per 1000 live births 1/3 of congenital abnormalities Increased if FHx Increased if parents are relatives Intrauterine - drugs, alcohol, rubella infection Down's syndrome DiGeorge's syndrome Williams syndrome Noonan's syndrome Turner's syndrome Maternal diabetes
Atrial septal defect
Left to Right shunt
Can be ostium secundum defect (foramen ovale) with normal valves or partial AVSD affecting valves
Usually asymptomatic
Tx - close ASD in early childhood
Ventricular septal defect
25% of all congenital heart disease Typically asymptomatic Pansystolic murmur at left lower sternal edge Most close spontaneously Can have heart failure
Patent ductus arteriosus
Common
Defined as patent ductus arteriosus if patent at 1 month
Connects pulmonary artery to aorta
Low diastolic pressure due to back flow through pulmonary artery
Wide pulse pressure
Bounding peripheral pulses
Continuous or machinery murmur in left infraclavicular area
Most close spontaneously
Tetralogy of Fallot
4 cardinal anatomical abnormalities
- VSD
- Over-riding aorta
- R ventricular outflow obstruction
- R ventricular hypertrophy
Cyanosis
Paroxysmal hypercyanotic spells - Tachypnoea, restlessness. Become white or floppy for minute-hours
Treated with prostaglandin E infusion
R to L shunt
Increased risk of cerebral ischaemia, endocarditis, HF, brain abscess, polycythaemia
Transposition of the great arteries
2 separate parallel circuits
Systemic venous blood returns to R heart and back to systemic flow
Not compatible with life unless mixing ASD or PDA
Severe hypoxia
No heart failure
Heart defect associated with Noonan’s syndrome
Pulmonary stenosis
Heart defect associated with Turner’s syndrome
Coarctation of aorta
Neonatal history
PREGNANCY
- parity
- any extra scans
- maternal problems in pregnancy
- medications
BIRTH
- gestation
- induced or spontaneous labour
- PROM?
- RF for infection
- Vaginal or C-section
SINCE BIRTH
- Feeeding, meconium, urine, vomiting
- Receive Vit K
- Any problems or concerns
Fhx and social
- genetic conditions
- RF for DDH
- SIDS
- Social set up
Causes of sick newborn
Sepsis Hypoxic Ischaemia Encephalopathy Transient Tachypnoea of newborn RDS Hypoglycaemia Jaundice Necrotising enterocolitis Cardiac murmur Neonatal abstinence syndrome Seizures
Changes in foetal circulation at birth
In utero - blood vessels that supply and drain lungs are constricted
Increased pulmonary vascular resistance
Blood bypasses lungs through ductus arteriosus
Pulmonary vessels dilate due to increased O2
Encourages blood flow to lungs
Closure of ductus arteriosus
Pulmonary expansion Increased O2 tension Decreased pulmonary vascular resistance Increased pulmonary blood flow Increased LA filling Closure of foramen ovale
Apgar score
HR - 0-absent, 1-<100, 2>100
Respiration - 0-absent, 1-gasping, 2-regular
Muscle tone - 0-flaccid, 1=some flexion, 2=well flexed
Reflex irritability 0-none, 1-grimace, 2-cry/cough
Colour - 0-pale/blue, 1-body pink, blue limbs, 2-pink
Cleft palate/lip
1 in 1000 children
Tends to run in families
Problems
- Difficulty feeding
- Milk aspiration
- Speech difficulties
- Conductive hearing loss due to Eustacian tube dysfunction
- Dental problems
Surgically corrected at 9 months
Give specialist advice on managing baby
Neural tube defects
Failure of neural tube to close in early pregnancy - incidence decreased with folic acid supplements
Screening with US and alpha fetoprotein
Anencephaly - most severe. complete failure of development of cranial nerve tube
Myelomeningocoele - open lesion with malformed and exposed spinal cord covered by meninges. Severe neurological abnormality of lower limbs
Meningocoele - spinal cord intact, exposed meninges. High risk of meningitis and hydrocephalus
Spina bifida occulta - hidden abnormality. Develop bladder dysfunction and pyramidal tract signs in legs as child grows
- Deep pit, tuft of hair, naevus, lipoma in midline
US offers diagnosis
Hypospadias
Urethra abnormally placed
1 in 500 boys
Most commonly ventrally on glans up to perineum
Increased severity with increased penile curve
Severe cases require repair before 2 years
DO NOT CIRCUMCISE as foreskin used in reconstruction
Bowel obstruction
1 in 1000 babies
Can be anatomical or functional
Clinical features:
- Bile stained vomiting
- Failure to pass meconium
- Abdominal distension
- Visible peristalsis
Oesophageal atresia: mucus, chokes on first feed
Duodenal atresia - bile stained vomit, double bubble on AXR
Jejunal atresia = most common. distension. bile stained vomit
Hirschsprung’s disease
Absence of myenteric nerve plexus in the rectum
may extend along the colon
abdomen distends
15% present with acute enterocolitis
Exomphalos
Often diagnosed Antenatally
Also called omphalocele
Abdominal contents protrude through umbilical ring, covered by transparent sac.
Gastroschsis
Bowel protrudes through defect in anterior abdominal wall adjacent to umbilicus
no sac covering
Cover with cling film
Increased risk of dehydration
Hypoxic ischaemic encephalopathy
Hypoxia. Hypercapnia. Metabolic acidosis.
Decrease tissue perfusion.
Brain damage, disability or death
Causes:
- prolonged uterine contractions
- placental abruption
- ruptured uterus
- cord compression
- shoulder dystocia
- cord prolapse
- maternal hypotension
- anaemia
- IUGR
MILD - infant irritable, responds excessively to stimulation
MODERATE - marked abnormalities in tone and movement
SEVERE - no normal spontaneous movements or response to pain. prolonged seizures. 30-40% mortality
Brachial nerve palsies
Occurs if breech birth or shoulder dystocia
Upper nerve root C5-6 = ERB’s palsy
Lower nerve root = KLUMPKEYS palsy
Facial nerve palsy
Via compression of facial nerve on ischial spine Unilateral Facial weakness on crying Eye remains open Usually transient
Define pre-term infant
Under 34 weeks
Medical problems in pre-term infants
Resuscitation at birth RDS Hypotension PDA Temperature control issues Hypoglycaemia, hypocalcaemia, electrolyte imbalance Nutrition Infection Jaundice Necrotising entercolitis Retinopathy of prematurity Anaemia of prematurity Brocnhopulmonary dysplasia Inguinal hernias
Respiratory distress syndrome
Deficiency of surfactant from type II pneumocytes
Widespread alveolar collapse and inadequate gas exchange
Steroids given Antenatally stimulate surfactant production
Tachypnoea >60
Laboured breathing, chest wall recession, nasal flaring
Expiratory grunting
Cyanosis if severe
CXR - diffuse granular or ground glass appearance
Treat with CPAP and O2
Necrotising enterocolitis
Affects pre-term babies in first few weeks
Bacterial invasion of ischaemia bowel wall
increased if cows milk fed
Infant stops tolerating feeds, milk aspirated from stomach
Vomiting +/- bile staining
Distended abdomen
Fresh blood in stools
Distended loops of bowel
Thickening of bowel wall
Can cause perforation
Stop feeding
Start broad spec Abx
Retinopathy of prematurity
Affects developing blood vessels at the junction of vascular and non-vascularised retina
Vascular proliferation
Retinal detachment
Fibrosis
Blindness
Bronchopulmonary dysplasia
Infants who still require O2 at 36 weeks
Lung damage from pressure and volume trauma from ventilation
CXR - widespread opacification and cystic changes
Jaundice in neonates
Over 50% of newborns are visibly jaundiced
- Marked physiological release of Hb from breakdown of Hb at birth
- RBC lifespan is only 70 days
- Hepatic bilirubin metabolism if less efficient in first few days
May be a sign of:
- Haemolytic anaemia
- Infection
- metabolic or liver disease
Kernicterus
Encephalopathy resulting from deposition of unconjugated bilirubin in basal ganglia and brainstem nuclei
- lethargy and poor feeding
- irritability
- Increased muscle tone
- Seizures, coma
- Survivors can develop choreoathetoid CP - learning disability and sensorineural deafness
Causes of jaundice in neonate
Haemolytic disorders: Rhesus/ABO incompatability. G6PD deficiency. Spherocytosis.
Physiological. Breast milk jaundice Infection Haemolysis Bruising Polycythaemia Hypothyroid High GI obstruction
Management of jaundice
Phototherapy
- blue/green band converts unconjugated bilirubin to water soluble pigment
Exchange transfusion
- if dangerously high levels. Remove baby blood and replace with donor blood
Causes of infection in neonate
Group B Strep
- Pneumonia or meningitis
- Give prophylactic Abc intrapartum
Listeria monocytogenes
- from unpasteurised milk, soft cheese, undercooked poultry
- Bacteraemia with mild flu like illness
- Meconium staining of licquor
- Widespread rash, septicaemia
Conjunctivitis
- sticky eye on day 3 or 4
- Chlamydia, gonorrhoea,
- Can be staph or strep
Epidemiology of sudden infant death syndrome
Most common aged 2-4 months
Incidence is decreasing with Back to Sleep campaign
RFs
- Low birth weight and pre-term
- Increased in males
- Multiple births
- Increasing maternal parity
- Parental low income
- Poor or overcrowded housing
- Maternal age under 20
- Single unsupported mother
- Maternal smoking during pregnancy or in the same room post birth
- Sleeping prone
Prevention of SIDS
Back to Sleep Campaign
Lie infant on back
Feet to foot position
Do not smoke in same room
Avoid overheating
Baby should sleep in same room for first 6 months
Avoid sleeping with the infant e.g. sofa, chair
Investigations and management for SIDS
Detailed clinical exam
Remove any ET tubes and needles but retain venous lines
Retain child clothes, bedding and nappy for police
Nasopharyngeal aspirate Blood for toxicology, metabolic screen Chromosomal anomalies Blood cultures Urine LP for virology and culture
PM and coroners review Give parents opportunity to see and hold child Social review Case discussion Bereavement counselling
Causes of shock in child
Hypovolaemia
- Dehydration from gastroenteritis
- DKA
- Blood loss from trauma
Maldistribution of fluid
- anaphylaxis
- Septicaemia
Cardiogenic
- Arrhythmia
- Heart failure
Causes of respiratory distress in children
Croup Epiglottitis Foreign body Congenital malformations Trauma Asthma Bronchiolitis Pneumonia pneumothorax
Causes of drowsiness in children
Post-ictal Status epilepticus Meningitis Encephalitis DKA Hypoglycaemia Electrolyte disturbance Inborn metabolism error Head injury Drug/ poison ingestion Intracranial haemorrhage
Paediatric BLS
Open airway
- Infants: neutral position
- Children: sniffing position
5 rescue breaths
Check pulses
- < 1 year = brachial and femoral
- > 1 year = carotid and femoral
If no pulse or pulse <60 then chest compressions
15:1
Adrenaline every 3-5 minutes
10 micrograms per kg IV
Apparent life-threatening events
Combination of apnoea, colour change, alteration in muscle tone, choking
Most common in under 10 weeks
Most are brief with rapid recovery
Causes
- Infections (RSV, pertussis)
- Seizures
- Upper airway obstruction
- GORD
Clinical manifestations of Down’s syndrome
Round face, flat nasal bridge Upslanted palpebral fissures Epicanthic folds Brushfield spots in iris Small mouth, protruding tongue Small low set ears Short neck Flat occiput Single palmar crease Incurved 5th finger Hypotonia Congenital heart defects Duodenal atresia Hirschsprung's disease
Later medical problems in Down’s syndromes
Delayed motor milestones
Moderate-severe LD
Small stature
Increased susceptibility to infection
hearing impairment from secretory otitis media
Visual impairment - cataracts, squint, myopia
Increased risk of leukaemia and solid tumour
Hypothyroidism
Coeliac disease
Epilepsy
Alzheimer’s disease
Genetics of Down’s
TRISOMY 21
94% meiotic non-disjunction (increases with maternal edge)
Edward’s syndrome
TRISOMY 18 1 in 8000 Multiple severe abnormality Low birth weight Prominent occiput Small mouth and chin Short sternum Fixed overlapping fingers Rocker bottom feet Cardiac and renal malformations
Patau’s syndrome
TRIMSOMY 13 1 in 14,000 Structural defect in the brain Scalp defects Small eyes (microphthalmia) Cleft palate and lip Polydactyly Cardiac and renal malformations
Turner’s syndrome
45 XO 95% are spontaneously miscarried Often diagnosed on US - cystic hygroma and foetal neck oedema Lymphoedema of hands and feet Spoon shaped nails Short stature Neck webbing Wide carrying angle Widely spaced nipples Congenital heart defects Delayed puberty Infertile Hypothyroidism Renal anomalies Pigmented moles Recurrent otitis media
Klienfelter’s syndrome
47 XXY 1-2 per 1000 males Infertility Hypogonadism Small testes Pubertal development, may appear normal Gynaecomastia
Autosomal dominant conditions
Achondroplasia Ehler's Danlos syndrome Familial hypercholesterolaemia Huntington's disease Noonan's syndrome Otosclerosis Tuberous Sclerosis Marfan's syndrome Myotonic dystrophy Neurofibromatosis Osteogenesis imperfect Polyposis coli
Describe autosomal dominant inheritance
Chromosomes 1-22
Children of someone affected
50% affected
50% normal
Autosomal recessive conditions
Cystic fibrosis Congenital adrenal hyperplasia Galactosaemia Freidreich ataxia Glycogen storage disease Phenylketonuria Hurler syndrome Tay-Sachs disease Sickle cell disease Thalassaemia
X linked inheritance & diseases
Can be dominant or recessive
males affected, females usually healthy but carriers
- Colour blindness
- Duchenne’s and Becker’s muscular dystrophy
- Fragile X syndrome
- G6PD
- Haemophilia A and B
- Hunter’s syndrome
Fragile X syndrome
Moderate-severe LD Macrocephaly Macro-orchidism Long face Large everted ears Prominent mandible Broad forehead mitral valve prolapse Joint laxity and scoliosis Autism Hyperactivity
Imprinting
Normally in a gene - mothers and fathers acts equally
In imprinting, one is more functional that the other
Chromosome 15
- If mothers unfunctional: Angelman’s syndrome
- If fathers unfunctional: Prader-Willi syndrome
Prader-Willi Syndrome
Chromosome 15 - parental gene unfunctional
Hypotonia Neonatal feeding difficulties Failure to thrive Obesity in later childhood with hyperphagia Hypogonadism Developmental delay and LD
Angelman’s syndrome
Chromosome 15 - maternal gene non-functional
Severe intellectual and developmental disability
Sleep disturbance
Seizures and jerky movements (hand flapping)
Frequent laughter and smiling
William’s syndrome
Short stature
Transient neonatal hypercalcaemia
Congenital heart disease - aortic stenosis
Mild-moderate LD
Newborn screening
Hearing
Blood spot test
Newborn hearing screening
Within 4-5 weeks usually prior to discharge
1st test: Automated Oto-Acoustic Emission (AOAE)
- play sound in ear, try to detect echo response from baby’s cochlea
2nd test: Automated Auditory Brainstem Response (AABR)
- play sound, detect response from brain stem via electrodes. assesses integrity from inner ear
AABR if no clear response on AOAE or >48 hours in SCBU or NICU
Newborn Blood Spot Test
Blood spot/heel prick/Guthrie test
Ideally on day 5 (day 5-8)
Tests for:
- Phenylketonuria
- Cystic fibrosis
- Congenital hypothyroidism
- Maple syrup urine disease
- Sickle cell disease
- MCAD deficiency
- Homocysteinuria
- Glutaric aciduria type 1
- Isoraleric acidaemia
Phenylketonuria
Testing looks for total biopterin and dihydropteridine reducates
allows for early implementation of phenylalanine restricted diet
Early diagnosis and treatment decreases handicap
Inborn error of amino acid metabolism
Absent phenylalanine hydroxylase - important in formation of catecholamine’s, neurotransmitters and melanine
Musty or mousey odour
Developmental delay
Recurrent vomiting
Homocysteinuria
Rare inherited metabolic disorder Raised blood and urine concentration of homocysteine Autosomal recessive Normal at birth Complications in childhood Tall stature (Marfanoid habitus) Fine brittle hair High arched palate Pectus excavatum Limited joint mobility Dislocation of lens Increased risk of VTE,MI, osteoporosis, mitral valve prolapse
Maple syrup urine disease
1 in 185,000 Autosomal recessive Maple syrup odour in cerumen Poor feeding Vomiting Poor weight gain Lethargy Dystonia Seizures
Clinical features of foetal alcohol syndrome
Failure of growth
- Never catch up
Facial abnormalities
- Microcephaly
- Flat philtrum
- Thin upper lip
- Retrognathia, micrognathia
- Microphalamia
- Cleft palate/lip
- posterior rotation of ears
Neurodevelopement
- Low IQ, memory problems
- Hyperactivity, attention deficits
- Poor judgement
- Immature behaviour
- Speech and language delay
- Sucking and feeding problems
Also
- Congenital heart disease (ASD and VSD)
- Partial deafness
- Significant visual disability
Stages of growth
FOETAL
- fastest period of growth, accounting for 30% of eventual height
- Size at birth depends on size of mother and placental nutrient supply
- IGF-2, insulin and human placental lactogen control growth
INFANTILE
- growth dependent on adequate nutrition
- good health and normal thyroid function necessary
- rapid but decelerating growth rate
- inadequate weight gain = FTT
CHILDHOOD
- slow and steady
- role of pituitary growth hormone. GH is secreted to produce insulin life growth factor 1 - IGF-1
- profound unhappiness can decrease GH and causes psychological short stature
PUBERTY
- sex hormones (testosterone and estradiol) causes back lengthening and increased GH secretion
- Adds 15% to final height
Define short stature
Height below the 2nd centile (2SD below the mean)
Many will be normal, just short with short parents
The further under the centile, the high risk of pathological cause
Height will fall through centile lines
Can be plotted on height velocity chart
Calculating genetic height
Mothers height + fathers height /2
If female -7cm
If male +7cm
Aetiology of short stature
- Familial
- IUGR and extreme prematurity
- Constitutional delay of growth and puberty
- Hypothyroidism
- Growth hormone deficiency
- Corticosteroid excess, Cushing’s
- Nutritional / chronic illness
- Psychosocial deprivation
- Chromosomal disorders/syndromes
- Achondroplasia
Extreme short stature
- Laron syndrome
- Primordial dwarfism
- idiopathic
- SHOX gene abnormality
Constitutional delay of growth and puberty
Increased in males
Variation in normal puberty timings
Not pathological
Can be induced by dieting or excessive physical training
Long legs in comparison to back
Onset of puberty can be induced with androgens/oestrogens
Hypothyroidism causing short stature
Usually caused by autoimmune thyroiditis in childhood
Growth failure
Excessive weight gain
When treated = catch up, can limit final height
Congenital hypothyroidism is often diagnosed at birth and therefore does not cause short stature
Causes of growth hormone deficiency
Craniopharyngioma - bitemporal hemianopia, papilloedema, optic atrophy
- hypothalamic tumour
- head injury
- meningitis
- cranial irradiation
- Laron syndrome
Chromosomal syndromes causing short stature
Laron's syndrome Down's syndrome Noonan's syndrome Russell-Silver syndrome Turner's syndrome
Investigations for short stature
FBC U&Es LFTs TFTs ESR and CRP Urinalysis Karyotyping Bone age - radiograph of L hand and wrist If pathological short stature then delay in bone age
Growth hormone provocation tests
MRI scan if neurological symptoms
Management of short stature
Somatotropin
used in growth hormone deficiency
Stop when final height attained or adherence poor
Noonan’s syndrome
Autosomal dominant Congenital heart defects - pulmonary vascular stenosis Short stature Learning problems Pectus excavatum Impaired blood clotting Webbed neck Flat nose
Silver Russell Syndrome
Primordial dwarfism SGA Feeding problems Hypoglycaemia Excessive sweating Blue tinge to sclera Triangular face, small jaw, pointed chin Wide and late closing fontanelle Decreased subcut fat
Laron syndrome
Autosomal recessive Insensitivity to growth hormone Abnormally short stature Prominent forehead, depressed nasal bride, underdeveloped mandible Truncal obesity Micropenis in males
William’s syndrome
Deletion of sections of chromosome 7 Developmental disorder Broad forehead, short nose, full cheeks Elfin face Intellectual disability Short stature Aortic stenosis Hypercalcaemia
Advantages of breast feeding
Ideal nutrition for infants during first 6 months
Life saving in developing countries
Decreases GI infection risk
Decreased necrotising enterocolitis
Increased mother child bond
Decreased diabetes, HTN and obesity in later life
Disadvantages of breast feeding
Unknown volume intake
Transmission of infection
Transmission of drugs
Vit K deficiency as not in breast milk (but in formula)
Less flexibility - other family can’t help
Colostrum
Produced for first few days
Increased protein and immunoglobulin component
Decreased volume
First breast feed should take place as soon as possible after birth
Physiology of breast feeding
Baby roots and sucks
Tactile receptors in nipple activated
Hypothalamus sends efferent impulses to pituitary
Anterior pituitary produces PROLACTIN which stimulates milk production by cuboidal cells in acini of breast
Posterior pituitary produces OXYTOCIN to contract myoepithelial cells in alveoli into large ducts (let down reflex)
Prolactin = increased milk production Oxytoxin = contraction of breast
Describe nutritional requirements of the baby
Breast of formula feeding for first 12 months
Cow’s milk may be given from 1 year
Introduce solid foods after 6 months
Done gradually
If starting food before 6 months - avoid wheat, eggs and fish
No honey in under 1s due to infantile botulinism
Define failure to thrive
Suboptimal weight gain in children (infants and toddlers)
Below 5th percentile or fall across centiles
- Mild: fall across 2 centile lines
- Severe: fall across 3 centile lines
Hard to distinguish TT from a normal but small baby
They will be asymptomatic
Aetiology of failure to thrive
70% inorganic (under feeding/psychosocial)
30% organic (secondary to disease)
- Decreased intake (social/economic/education)
- Decreased ability
CNS: CP, tumour, suck/swallow reflex
GI; GORD, pyloric stenosis
Cleft palate
Micrognathia - Decreased absorption:
Lactose allergy, CF, IBD, Coeliac
Biliary atresia, cirrhosis
Obstruction: hernia, malrotation, intussusception
Neonatal: NEC, short bowel syndrome - Increased requirement
Storage disease, inborn error
CHD
CF, bronchopulmonary dysplasia
Hypo/hyperthyroid disease
Malignancy
Investigations in failure to thrive
FBC, ESR, CRP, U&Es Glucose TFTs Sweat chloride Coeliac - tissue transglutaminase
2nd line
- Lead levels
- Abdominal US
- CXR
- Head US
- ECG/ echo
Management of failure to thrive
Health visitor involvement 3 meals a day + snacks Increased energy density foods Regular meal times Praise when food eaten Never force feed a child
MDT: health visitor, paediatrician, dietician, social worker
Marasmus
Weight for height > 3SD
Wasted, wizened appearance
No oedema
Withdrawn and apathetic
Kwashorkor
Generalised oedema and severe wasting Flaky pain skin Hyperkeratosis Distended abdomen Hepatomegaly angular stomitis Diarrhoea, hypothermia, bradycardia, hypotension
Types of abuse
Physical Emotional Neglect Sexual Fabricated or induced illness
Risk factors for abuse
Child
- Failure to meet parental expectation e.g. wrong gender or disabled
- Resulted from forced, coercive or commercial sex
Parent
- Mental health problems
- Parental indifference, intolerance or over anxious
- Alcohol or drug use
Family
- Step parents
- Domestic violence
- Social isolation
- Young parental age
Environment
- Poverty, poor housing
Injuries more likely to indicate physical abuse
Fractures: in non-mobile child, rib fractures, multiple fractures, fractures of different ages, skull fractures
Bruises: shape of hand or object, on the neck (e.g. strangulation), Wrists and ankles, buttocks in under 2s
Burns: in non-mobile child, in shape of implement e.g. iron or cigarette, glove and stocking from forced immersion
Emotional abuse
Persistent emotional maltreatment resulting in severe adverse effects on child’s emotional development
Inappropriate expectations / over protection / made to feel worthless, unloved or inadequate
Presentation of emotional abuse
Hardest to identify
Babies – apathetic, delayed development
Toddlers: violent, apathetic, fearful
School age: wetting, soiling, non-attendance
Adolescents: self-harm, depression, aggressive
Neglect
Persistent failure to meet a child’s physical or psychological needs. Failure of:
Adequate food and clothing
Shelter
Protection from physical and emotional harm or danger
Inadequate supervision
Presentation of neglect
Consistently misses important medical appointment Lacks needed medical and dental care Dirty Inadequate clothing in cold weather Using alcohol or drugs Child mentions no one at home
Sexual abuse
Forcing or enticing a child to take part in sexual activity
Includes: physical contact (rape, oral sex), non-contact (watching sexual activities, looking at pornographic material, encouraging them to behave inappropriately
Presentation of sexual abuse
Child may tell someone STI with no cause Vaginal bleeding, discharge, itching Rectal bleeding Self harm, aggressive or sexualised behaviours
Fabricated or induced illness
Behaviour of parents (usually mother >80%) which causes harm to children
Verbal fabrication: parents invent signs and symptoms. Abuse is done through tests and treatments
Induction of illness:
- Suffocation of child presenting as acute life threatening event
- Administration of noxious substance or poison
- Excessive administration of normal substance e.g. salt
- Excessive or unnecessary use of medication
Only happens when a parent/guardian around
Effects of alcohol abuse on the child
Severe congential abnormalities
Imapired growth and leaning and behavioural impairment
Foetal alcohol syndrome
Effects of heroin abuse on the child
Withdrawal syndrome
Advise methadone
Decreased birth weight
Effects of cocaine abuse in the child
Powerful vasoconstrictor Increased miscarriage Increased placental abruption Premature labour Foetal death in utero
Effects of alcohol/drug misuse on child
Physical harm
- access to drugs or paraphernalia
- increased violence due to decreased inhibition
- Increased strangers in home
- Chemical dependence
Not meeting child's physical needs Inadequate supervision Disruption to education or poor school attendance Child assuming parental role Decreased boundaries and routine Frightening Emotional stresses - fear of abandonment/parents dying/not loving child Feeling responsible for parents drug use
Describe meconium
Black colour First stool GI cells Filled with bilirubin If not expelled quickly, increased risk of jaundice Should be expelled in <24 hours
Palpable posterior fontanelle indicates what?
hypothyroidism or Down’s syndrome
Describe presentation of metabolic conditions
If problem with fat/protein/carbohydrate metabolism
Presents after first 1-2 days
Have a good first feed
Then start to get unwell, minimal further feeds
Ill due to build up of toxic metabolites from failed metabolism
Fields of development
Gross motor
Vision and fine motor
Hearing, speech and language
Social, emotional and behavioural
How are developmental milestones judged?
Median age - when half of the population at that level
Limit age - 2SD above mean. Age at which it should have been achieved
If a baby is pre-term should be calculated from expected date of delivery to allow to catch up. Only up to 2 year.
Gross Motor Developmental milestones
6-8 weeks: raises head to 45 degrees when prone
6-8 months: sits without support. At 6m = round back, 8m = straight back (limit 9 months)
8-9 months: crawling
10 months: cruising around furniture
12 months: walking unsteady (limit 18m)
15 months: walks steadily
Vision and fine motor milestones
6 weeks: follows object by moving head (limit 3 months)
4 months: reaches for toys
4-6 months: palmar grasp
7 months: Transfers objects between hands
10 months: pincer grip (limit 12 months)
16-18 months: makes marks with crayons
18 months: 3 blocks 2 years: 6 blocks 2.5 years: 8 blocks 3 years: 3 block bridge 4 years: steps
2 years - line 3 years - circle 3.5 years - cross 4 years - square 5 years - triangle
Hearing, speech and language milestones
Newborn - startles to loud noise
3-4 months: vocalises alone or when spoken too. Coos and laughs
7 months: turns to soft sounds out of sight. Uses should indiscriminately
10 months: sounds used discriminately to parents
12 months: 2-3 words (other than mama and dada)
18 months: 6-10 words. Shows 2 parts of body.
20-24 months: uses 2+ words to make simple phrases
2.5-3 years: talks constantly in 3-4 word sentences
Social, emotional and behavioural normal milestones
6 weeks: smile
6-8 months: puts food in mouth
10-12 months: waves bye. peek a boo.
12 months: drinks from a cup 2 handed
18 months: self feeds with spoon
18-24 months: symbolic play
2 years: dry by day. pulls off some clothing
2.5-3 years: parallel play, starting interactive play. taking turns
Standardised testing of milestones
Screening
- schedule of growing skills
- Denver development screening test
Assessment
- Griffith’s/ Bailey Infant Development scales
Formal IQ testing
Define developmental delay
Slow acquisition of all skills (global delay) or one of specific delay particularly in relation to developmental problems in 0-5 years
Define learning difficulty
Used in relation to children of school age and may be cognitive, physical or both
Define impairment
Loss or abnormality of physiological function or anatomical structure
Define disability
Restriction or lack of ability due to impairment
Features suggestive of neurodevelopmental concerns
Positive FHx Antenatal screening positive Neonatal encephalopathy Birth asphyxia Dysmorphic features Pre-term infants Abnormal neurological behaviour Global delay
Conditions that cause abnormal development and learning difficulty
PRE NATAL
PRE-NATAL
- Genetic: Down’s, Fragile X
- Cerebral dysgenesis: microcephaly, absent corpus collosum, hydrocephalus
- Vascular: occlusions, haemorrhage
- Metabolic: hypothyroid, phenylketonuria
- Teratogens: alcohol, drugs
- Infection: rubella, CMV, toxoplasmosis, HIV
- Tuberosclerosis, neurofibromatosis
Conditions that cause abnormal development and learning difficulty
PERINATAL
Extreme prematurity
Birth asphyxia - hypoxic ischaemic encephalopathy
Metabolic - hypoglycaemia, hyperbilirubinaemia
Conditions that cause abnormal development and learning difficulty
POSTNATAL
Infection: meningitis, encephalitis
Anoxia: suffocation, near drowning, seizures
Trauma: head injury
Vascular: stroke
Investigations for developmental delay
Cytogenic
- chromosome karyotyping
- Fragile X analysis
Metabolic: TFTs, LFTs, U&Es, plasma amino acids
CK, blood lactate, ammonia
ABG
Urate, ferritin
Congenital infection screen Cranial US in newborn CT/MRI Skeletal survey - bone age EEG Nerve conduction studies hearing. vision.
Global developmental delay
All fields
Usually apparent in the first 2 years
Always investigate for cause
Gets clearer to define as child gets older
