Neonatology Flashcards
Define neonate
From birth to 28 days of age
Admission to neonates
Birth - labour ward
PNW - postnatal week
Home - exchange transfer
Transfer from another hospital
Define early onset neonatal sepsis (EONS)
Sepsis occuring within the first 48-72 hours of life
Common PC for neonates
Prematurity Respiratory distress - grunting Cyanosis Jaundice Poor feeding Weight loss Know congenital abnormalities Fractures/skull swelling Concerns about sepsis
Causes of EONS
Chorioamnionitis perinatally via direct contact in the birth canal and haematogenous spread
Main organism of EONS
Group B streptococcus - most common - gram-positive coccus - present in 25% of pregnant women's genital tract - infection via direct contact E-coli Coagulase-negative straphylococcus H influenzae Listeria monocytogenes
Risk factors for EONS
Invasive group B strep infection in previous baby
Maternal group B strep colonisation, bacteruria or infection in current pregnancy
Prelabour rupture of membranes
Preterm birth following spontaneous labour
Suspected or confirmed rupture of membranes for more than 18 hours in a preterm birth
Intrapartum fever higher than 38
Parental antibiotic treatment for invasive bacterial infection at anytime during labour - red flag
Suspected or confirmed infection in another baby in the case of multiple pregnancy - red flag
Clinical indicators suggestive of infection
Altered behaviour or responsiveness
Altered muscle tone (for example, floppiness)
Feeding difficulties (for example, feed refusal)
Feed intolerance, including vomiting, excessive gastric aspirates and abdominal distension
Abnormal heart rate (bradycardia or tachycardia)
Signs of respiratory distress
Respiratory distress starting more than 4 hours after birth (Red Flag)
Hypoxia (for example, central cyanosis or reduced oxygen saturation level)
Jaundice within 24 hours of birth
Apnoea
Signs of neonatal encephalopathy
Seizures (Red Flag)
Need for cardio–pulmonary resuscitation
Need for mechanical ventilation in a preterm baby
Need for mechanical ventilation in a term baby (Red Flag)
Persistent fetal circulation (persistent pulmonary hypertension)
Temperature abnormality (lower than 36°C or higher than 38°C) unexplained by environmental factors
Signs of shock (Red Flag)
Unexplained excessive bleeding, thrombocytopenia, or abnormal coagulation (International Normalised Ratio greater than 2.0)
Oliguria persisting beyond 24 hours after birth
Altered glucose homeostasis (hypoglycaemia or hyperglycaemia)
Metabolic acidosis (base deficit of 10 mmol/litre or greater)
Local signs of infection (for example, affecting the skin or eye
Red flag signs for suggestive neonatal infection
Systemic antibiotics given to mother for suspected bacterial infection within 24hr of birth
Seizures
Signs of shock
Resp distress starting more than 4 hours after birth
Need for mechanical ventilation in term baby
Suspected or confirmed infection in co-twin
Differential diagnosis for EONS
Transient Tachypnoea of the newborn (TTN) - in term babies, causes tachypnoea and increased work of breathing
Surfactant deficient lung disease / respiratory distress syndrome (RDS) - especially in preterm infants can cause tachypnoea and increased work of breathing
Meconium Aspiration - can cause the baby to be born in poor condition, with respiratory distress, and may require intubation. Meconium aspiration can cause a rise in CRP.
Haemolytic Disease of the Newborn - can present with jaundice within the first 24 hours of life.
Investigations for EONS
FBC CRP Blood cultures Relevant swabs/cultures LP - if suggestive of meningitis
Management of EONS
IV benzylpenicillin with gentamicin
- if cultures + then continue for 7-10 days
- up to 14 days if CSF also +
- raised CRP but - cultures 5 days
Define jaundice
Yellow colouring of skin and sclera caused by the accumulation of bilirubin
Epidemiology of neonatal jaundice
60% of term infants
80% of preterm infants
Physiological causes of jaundice
Physiological - jaundice in a healthy baby born at term is normal
Starts at day 2-3, peaks at day 5 and resolved by day 10
- increased RBC breakdown-
- immature liver
Pathological causes of jaundice
Onset less than 24 hours = Haemolytic disease
- haemolytic disease of the newborn (rhesus)
- ABO incompatibility
- GPD deficiency
- spherocytosis
Onset after 24 hours
- likely dehydrated
- increased haemolysis due to bruising/cephalohematoma
Unwell neonate = congenital or post-natal infection
Prolonged jaundice - > 14 days in term and 21 days in preterm
- infection
- metabolic - hypothyroid/pituitarism, galactosaemia
- breast milk jaundice - well baby, resolves between 1.5-4 months
- GI - biliary atresia, choledhocal cyst
Define preterm birth
Delivery before 37 weeks
- extreme = before 28 weeks
- very = 28-32 weeks
- moderate to late = 32 to 37 weeks
Epidemiology of preterm birth
15 million babies born premature each year
- 60,000 in UK
Number one cause of neonatal death globally
number 1 cause of death for under 5s
Risk factors for premature birth
Previous preterm delivery
Multiple pregnancy
Smoking and illicit drug use in pregnancy
Being under or overweight in pregnancy
Early pregnancy - within 6 months of previous pregnancy
Problems involving cervix, uterus or placenta - including infection
Certain chronic conditions such as diabetes and hypertension
Physical injury/trauma
Investigations for premature birth
Blood gas - assess resp and metabolic state of infant
FBC - high risk of infection, thrombocytopenia and anaemia
U+Es and creatinine - electrolyte and fluid balance
Blood culture
CRP
Blood group and Direct Coombs Test/Direct Antiglobulin Test - blood transfusion and jaundice
CXR - if showing signs of resp distress
AbdoX - central venous and arterial access inserted through umbilical vein and arteries
Cranial USS - assess for signs of haemorrhagic, ischaemic and infective factors
Initial management of preterm birth
Planned delivery in hospital with in tertiary level neonatal hospital
Antenatal steroids
Magnesium sulphate - neuroprotective
Guidelines around resuscitation of extreme pre-term infants
Less than 23 weeks - resuscitation not performed
23-23+6 weeks - decision not to start resuscitation in best interests of baby especially if parents agree
24 and 24+6 weeks - resuscitation commenced unless baby thought to be severely compromised
After 25 weeks - appropriate to resuscitate and start intensive care
Features of intraventricular haemorrhage
Parenchymal bleed due to immature BBB
Bleed during birth due to increased maternal and baby BP
Leads to cerebral palsy - managed by early physiotherapy
Features of surfactant deficiency
Difficulty breathing
Cyanosis
Intercostal recession
Increased RR, HR and reduced SaO2
Formation of lungs
Type 1 pneumocytes - needed for gas exchange - form at 32 wks Type 2 pneumocytes - produce surfactant - form at 24 weeks
Investigations for infant respiratory distress
Blood gas - usually type 1 resp failure = low O2 and high CO2
CXR - acute respiratory distress syndrome
- cloudy, speckly = ground-glass sign
Differential diagnosis of respiratory distress in a newborn
Surfactant deficiency
Infection
Pneumonia
Management of surfactant deficiency
Antenatal steroids if signs of premature labour
Artificial surfactant - 1 per 12 hours
Long term = ventilation
Complications of long term ventilation of newborns
Bronchopulmonary dysplasia
- fibrosis of lung
- damage due to barotrauma
Most common in those ventilated from 32-36 weeks +
Increased risk of asthma and chest infections
Features of a patent ductus arteriosus
Machinery murmur - loudest at upper left chest
Breathlessness
Poor exercise tolerance
Rapid HR
Define patent ductus arteriosus
Unclosed hole in the aorta
- oxygenated blood travels from aorta into pulmonary artery
Management of PDA
Ibuprofen - anti-prostaglandin effect
Surgical ligation if unsuccessful
Define NEC
Nectrosting Encephalitis
- overgrowth of gut bacteria -> infection
Features of NEC
Vomiting + diarrhoea Feeding intolerance Abdo distention Blood in stools Tachycardia
Ix for NEC
Abdo x-ray
- pneumatosis intestinalis = train track sign
Mx for NEC
Nil by mouth
IV abx
Total parenteral nutrition
Surgical mx for perforated intestine - removal of affected section
Neurodevelopmental outcomes of premature babies
More premature = higher likelihood of neurodevelopmental impairment
- infants born at 22 weeks, around 1/3 will have no or mild disability
- increases to 75% at 26 weeks
Risk factors for neonatal jaundice
Prematurity, low birth weight or small for dates Previous siblings requiring phototherapy Exclusively breast fed Jaundice < 24 hours Infant of diabetic mother
Clinical presentation of neonatal jaundice
Colour - sclera, gums and blanche the ski
Drowsy - difficult to rouse, not waking for feeds
Neurology - altered muscle tone
Other - signs of infection, poor urine output, abdo mass/organomegaly, stool remains black
Ix for neonatal jaundice
Transcutaneous bilirubinometer
- >35/40 gestation and > 24hrs for 1st measurement
Serum bilirubin
- if <35/40 gestation, < 24hrs old or TCB > 250 micromol/L
Only if appear jaundiced to naked eye
Mx for neonatal jaundice
Interpret bilirubin using treatment threshold graphs
- gestation specific - the more premature infant the lower level of bilirubin tolerated before neurological impairment
If above live initiated phototherapy and monitor bilirubin
Do not give additional fluids unless indicated
Exchange transfusion
- prevent further bilirubin increase
- via umbilical artery or vein
IV Immunoglobulin
- adjunct to phototherapy in rhesus haemolytic disease of ABO haemolytic disease
Complications of neonatal jaundice
Kernicterus
- bilirubin-induced brain dysfunction
- irreversible neurological damage to to high bilirubin
Define meconium aspiration syndrome
Spectrum of disorders marked by various degrees of respiratory distress in the newborn infant
- follows the aspiration of meconium stained amniotic fluid either antenatally or during birth
Pathophysiology of meconium aspiration syndrome
Meconium stained amniotic fluid (MSAF) caused by in-utero peristalsis
- result of foetal hypoxic stress or vagal stimulation due to cord compression
Once aspirated can stimulate the release of vasoactive and cytokine substances
- activate inflammatory pathways
- inhibits effect of surfactant
Common features of MAS-related respiratory distress of the newborn
Partial or total airway obstruction - due to thick sticky consistency of meconium
-> atelectasis and ball-valve effect with air trapping
Foetal hypoxia - due to V/Q mismatch, increase of pulmonary vasculature, mechanical obstruction, airway oedema or surfactant inactivation
Pulmonary inflammation
- release of pro-inflammatory cytokines - tumour necrosis factor and interleukins
- contribute to lung tissue, injury, surfactant inactivation and infection
Infection
- inflammation process predisposes lung to increased risk of infection and chemical pneumonitis
Surfactant inactivation
- increases surface tension of alveoli
- reduces efficiency of gas exchange and exacerbates foetal hypoxia
Persistent Pulmonary Hypertension
- due to remodelling of pulmonary vasculature in response to hypoxia, vasoactive mediators and V/A mismatch
Risk factors for MAS
Gestational Age > 42 weeks
Foetal distress - tachycardia / bradycardia
Intrapartum hypoxia secondary to placental insufficiency
Thick meconium particles
Apgar Score <7
Chorioamnionitis +/- prolonged pre-rupture
Oligohydramnios
In utero growth restriction Maternal hypertension, diabetes, pre-eclampsia or eclampsia, smoking and drug abuse
Investigations for MAS
Diagnosis of exclusion CXR - increased lung volumes - asymmetrical patchy pulmonary opacities - pleural effusions - pneumothorax or pneumomediastinum - multifocal consolidation - due to chemical pneumonitis Infection markers - FBC - CRP - blood cultures
Ddx of MAS
Transient tachypnoea of the newborn - usually resolves in 24hrs without intervention - no hypoxia or cyanosis Surfactant deficiency - causes resp distress - more commonly seen in pre-term infants - no MSAF at delivery Persistent pulmonary hypertension - PDA
Management of MAS
Observation Routine care - infant warmer - continuous O2 sats - nutritional support - IV fluids Ventilation/O2 therapy - nasal cannula - CPAP - intubation and mechanical ventilation Antibiotics - if clinical suspicion of infection - stopped if negative blood cultures return Surfactant Inhaled Nitric Oxide - pulmonary hypertension Corticosteroids
Complications of MAS
Air leak - pneumothorax or pneumomediastinum PPHN - persistent pulmonary hypertension of the newborn Cerebral palsy - due to cerebral hypoxia Chronic lung disease - develop from barotrauma and oxygen toxicity
Define failure to thrive
Poor physical growth and development in a child
- 1+ centile spaces if birthweight below 9th centile
- 2+ centile spaces if birthweight between 9th and 91st centile
- 3+ centile spaces if birthweight above 91st centile
Causes of failure to thrive
Inadequate nutritional intake - maternal malabsorption if breastfeeding - iron deficiency anaemia - family or parental problems - neglect - availability of food Difficulty feeding - poor suck - cleft lip or palate - pyloric stenosis Malabsorption - CF - coeliac disease - cow's milk intolerance - chronic diarrhoea - IBD Increased energy requirements - hyperthyroidism - chronic diseases - malignancy - chronic infections Inability to process nutrition - inborn errors of metabolism - DM T1
Types of learning disabilities
Dyslexia - difficulty reading, writing and spelling
Dysgraphia - difficulty writing
Dyspraxia - developmental co-ordination disorder
Auditory processing disorder
Non-verbal learning disability
Profound and multiple learning disability
Define Down’s syndrome
Trisomy 21 - 3 copies of chromosome 21
Dysmorphic features of Down’s syndrome
Hypotonia (reduced muscle tone)
Brachycephaly (small head with a flat back)
Short neck
Short stature
Flattened face and nose
Prominent epicanthic folds - folds of skin over the medial portion of the eye and eyelid
Upward sloping palpable fissures - gaps between lower and upper eyelid
Single palmar crease
Complications of Down’s syndrome
Learning disability
Recurrent otitis media
Deafness - Eustachian tube abnormalities lead to glue ear and conductive hearing loss
Visual problems - myopia, strabismus and cataracts
Hypothyroidism
Cardiac defects - ASD, VSD, patent ductus arteriosus and tetralogy of Fallot
Atlantoaxial instability
Leukaemia is more common in children with Down’s
Dementia is more common in adults with Down’s
Antenatal screening for Down’s sydnrome
Combined test
- performed between 11 and 14 weeks
- USS measures nuchal translucency - over 6 mm
- beta-human chorionic gonadotrophin (beta-HCG) - high
- pregnancy-associated plasma protein-A (PAPPA) - low
Triple test
- 14 and 20 weeks gestation
- Beta-HCG
- Alpha-fetoprotein (AFP) - low
- Serum oestriol (female sex hormone) - low
Define cerebral palsy
Non-progressive, permanent impairment of motor-postural development neurological problems resulting from damage to the immature brain
Causes of cerebral palsy
Antenatal - maternal infections - trauma Perinatal - birth asphyxia - pre-term birth - intraventricular haemorrhage Postnatal - meningitis - severe neonatal jaundice - head injury
Types of cerebral palsy
Spastic - hypertonia and reduced function - upper motor neurons Dyskinetic - Athetoid = abnormal, involuntary movements affecting extremities, facial grimacing and drooling, feeding and speech impairment, hypotonia, normal reflexes - Dystonic - prolonged, slow, repetitive movements, abnormal posturing, hypotonia and normal reflexes - damage to basal ganglia Ataxic - problems with coordinated movement - damage to cerebellum Mixed
Patterns of Spastic Cerebral palsy
Monoplegia - one limb
Hemiplegia - one side on body affected
Diplegia - four limbs affected - mostly legs
Quadriplegia - four limbs affected
Presentation of cerebral palsy
Failure to meet milestones
Increased or decreased tone, generally or in specific limbs
Hand preference below 18 months
Problems with coordination, speech or walking
Feeding or swallowing problems
Learning difficulties
Gait features
Hemiplegic / diplegic gait = upper motor neurone lesion Broad based gait / ataxic gait = cerebellar lesion High stepping gait = foot drop or a lower motor neurone lesion Waddling gait = pelvic muscle weakness due to myopathy Antalgic gait (limp) = localised pain
Features of upper motor neurone lesion
Muscle bulk preserved
Hypertonia
Slightly reduce power
Brisk reflexes
Features of lower motor neurone lesion
Reduced muscle bulk and fasciculations
Hypotonia
Dramatically reduced power
Reduced reflexes
Complications/associated conditions of cerebral palsy
Learning disability Epilepsy Kyphoscoliosis Muscle contractures Hearing and visual impairment Gastro-oesophageal reflux
Mx of cerebral palsy
MDT approach
- physio
- occupational therapy
- speech and language
- dieticians
- orthopaedic surgeons
- tenotomy
- paediatrician
- muscle relaxants
- anti-epileptic drugs
- glycopyrronium bromide - excessive drooling
Define autsim
Spectrum of conditions which affect social and communication skills
Rks factors for ASD
Male sex
FHx
Fragile X syndrome
Clinical features of ASD
Social skills
- poor eye contact, difficulty empathizing, social cues being missed, lack of imaginative play
Language
- speech delay, literal interpretation of language, restricted gestures and facial expressions, echolalia
Repetitive behaviour
- hand flapping, tiptoe gait, unusual interests, strict routine adherence
Mx of ASD
Biological
- co-morbidities
- community paediatrician coordinates
- antipsychotics for aggression - risperidone
- melatonin for severe sleep dysregulation
Psychological
- support groups and counselling for family
- psychological comorbidities common
Social
- applied behavioural analysis
- education support at school
Define ADHD
Presence of hyperactivity, impulsiveness and inattention
Risk factors for ADHD
Male
Fhx of ADHD, learning difficulties or substance misuse
In utero exposure to alcohol/nicotine
Clinical features of ADHD
Inattention
Hyperactivity
Impulsiveness
Usually present with concerns raised by school staff or parents or difficulty with schooling/school refusal
Mx of ADHD
MDT approach Social - behaviour management centred around routines and consistency - positive reinforcement - parental training Biological - Methylphenidate - CNS stimulant
Side effects of methylphenidate
Anxiety Tremors Hypertension Insomnia Anorexia Hyperhidrosis
Method of action of methylphenidate
Blocks both dopamine and noradrenaline transporters on synaptic membrane
Inhibits reuptake of dopamine and noradrenaline
Net increase in dopamine and noradrenaline in neuronal synapses
Increased neurotransmission of substances
Foetal circulation
Oxygenated blood carried through umbilical vein
- enters foetal circulation via ductus venosus into inferior vena cava
IVC drains into the right atrium
- foraeman ovale patent - shunts most blood from right to left
- right sided pressure greater than left
- shunted blood bypasses lungs
Some blood remains on right side leaves via pulmonary artery
- blood flows through patent ductus arteriosus between pulmonary artery and aorta
Deoxygenated blood flows back to placenta via umbilical arteries
Circulation changes during birth
Removal of placenta
Onset of breathing
Rapid reduction in pulmonary vascular resistance
Closure of shunts - ductus arteriosus, ductus venosus and foramen ovale
Physiology
- amniotic fluid in lungs displaced by squeezing within birth canal
- onset of breathing increases PaP2 and normalises pH and PaCO2 - induce pulmonary vasodilation and reduce pulmonary resistance
- clamping umbilical cord immediately increases systemic vascular resistance
- left atrial pressure now exceeds right atrial pressure -> foramen ovale closes
- Increase in PaO2 triggers closure of ductus arteriosus
GI tract changes
Develops as a tube from 6 weeks gestation
Foetus swallows amniotic fluid from 16 weeks gestation
- proteins from mother including antibodies transferred to feotus
Nutrients absorbed via gut from 25 weeks gestation
Coordination of suck and swallow develops after 34 weeks gestation
Hepatic function changes
Neonatal liver has little function
- toxin filtering and metabolism are performed by placenta
After birth liver adjusts but will not reach full capacity for a few months
- neonatal drugs given at low doses because of immaturity in metabolic function
Define perinatal mortality rate
Number of still births and neonatal deaths within first week of life per 1000 live births
Define neonatal mortality rate
Total deaths per 1000 live births in first 28 days
Risk factors for prematurity/IUGR
Multiple pregnancy Maternal illness Placental insufficiency In utero infection Genetic disorder
Types of IUGR
Symmetrical
- IU infections and chromosomal abnormalities
- proportionally small head, length and weight
Asymmetrical
- maternal or placental issues - placental insufficiency or pre-eclampsia
- small length and weight, with preserved head size
Define prematurity
Any birth before 37/40
Define IUGR
Failure of foetus to achieve genetic growth potential
Define SGA
Small for gestational age
Newborn below certain centile for particular gestation - usually 10th centile
Define LBW
Low birth weight
- less than 2500g
Define VLBW
Very low birth weight
- less than 1500g
Define stillbirth
Foetus born after 24/40 that never shows signs of life
Define neonatal death
Death of newborn within 28 days of delivery
Define hypoglycaemia
Blood sugar < 2.6 mmol/L
Causes of hypoglycaemia of the newborn
Reduced glucose production - preterms - metabolic errors Increased glucose demands - sepsis - hypothermia Hyperinsulinism - diabetic mother Endocrine problems
Mx of hypoglycaemia of newborn
1.6-2.6 mmol/L and asymptomatic
- feed infant
- consider increasing feed frequency
Severe (<1.6 mmol/L) or symptomatic
- IV dextrose
- admit to neonatal unit and monitor blood sugars hourly till stable
- hypo screen - identify common endocrine and metabolic aetiologies
Define RDS
Respiratory distress syndrome
- hyaline membrane disease
- condition of prematurity caused by insufficient levels of surfactant
- manifests as a tachypnoeic newborn
Pathophysiology of RDS
Lack of surfactant in the lungs due to prematurity or effect inhibited by asphyxia
- surfactant lowers alveolar surface tension
- loss of surfactant results in alveolar collapse
Risk factors for RDS
Prematurity Perinatal asphyxia - difficult birth - meconium aspiration - sepsis - congenital lung abnormalities Maternal diabetes - delayed lung maturity
Clinical features of RDS
Distressed and unwell infant Poor feeding Tachypnoea > 60 breaths per minute Hypoxia Respiratory distress - intercostal and subcostal recession, head bobbing, tracheal tug and nasal flaring Grunting
Mx of RDS
Oxygen - aiming for pO2 6-10
CPAP and mechanical ventilation
Artificial surfactant - increase lung compliance and decrease alveolar surface tension
Define IVH
Intraventricular hemorrhage
- alteration in cerebral blood flow results in bleeding in the fragile germinal matrix
- if severe enough spreads to ventricles
- most commonly before 32 weeks as germinal matrix disappears in 3rd trimester
Define PVL
Periventricular leukomalacia
- hypoperfusion and excitotoxic cytokines causes damage to oligodendroglia resulting in white matter injury
Risk factors for neonatal brain injury
VLBW Gestation less than 32 weeks Difficult birth RDS Cardiovascular instability Other prematurity complications
Clinical features of IVH
Often asymptomatic Seizures and apnoeas with big bleeds Floppy infant with poor feeding Abnormal movements or tone Large IVH may present with hypovolaemic neonate - tachycardia, peripherally shut down
Mx of IVH
ABCDE approach
Maintain good blood pressure and oxygen/CO2 level control
Mx of PVL
Aim is prevention - avoiding large blood pressure fluctuations and hypoxia
Grades of IVH
Grade 1 - isolated to germinal matrix
Grade 2 - haemorrhage into ventricles, no dilation
Grade 3 - haemorrhage into ventricle with acute dilation
Grade 4 - parenchymal haemorrhagic infarct
Risk factors for neonatal infection
Prematurity Maternal pyrexia in labour Premature rupture of membranes (PROM) LBW Long lines in situ Chorioamnionitis Maternal group B strep colonization
Clinical features of neonatal infection
Clinically deteriorating neonate
Poor feeding
Obs deranged - HR and BP late changes
Crepitations, bowel sounds, organomegaly, rash, abdo distended, fontanelle sunken or bulging
Mx of neonatal infection
Abx treatment - commenced < 1 hour of suspicion
- early onset (<72 hours) = IV penicillin + IV aminoglycoside
- late onset (>72 hours) = IV flucloxacillin + IV aminoglycoside
- acyclovir to cover potential HSV infection
RF for NEC
ORal feeding - formula higher risk than breast milk PRematurity Concurrent infection LBW/VLBW IUGR Perinatal asphyxia
Causes of neonatal jaundice
Less than 24 hrs = haemolytic or infection - haemolytic disease of the newborn - ABO or rhesus incompatibility - G6PD deficiency - hereditary spherocytosis - alpha thalassemia 24 hours - 14 days = physiological - immature liver - high haemoglobin levels Longer than 14 days - breast milk jaundice - biliary atresia - infection
Define kernicterus
Bilirubin encephalopathy
Pathophysiology of kernicterus
Result of excess unconjugated bilirubin crossing the BBB
Any illness causing systemic acidosis disrupts the BBB making kernicterus more likely
Risk factors for kernicterus
High unconjugated bilirubin
Sepsis
Acidosis
Complications of kernicterus
Cerebral palsy
Deafness
Intellectual disability
Pathophysiology of cleft lip/palate
Normal development of facial structures interrupted in utero
- lip and nose develop between 3rd and 7th week
- palate forms between th and 12th week
- interruptions before the 7th week will result in cleft left which will extend into primary (anterior) portion and after 8th week will result in a cleft of larger secondary portion
Risk factors of cleft lip/palate
Aneuploidy/genetic syndrome
FHx
Maternal drug use, smoking and alcohol
Symptoms of cleft lip
Difficulty establishing feeds
Recurrent chest infections - from aspirations
Faltering growth
Mx of cleft lip/palate
Medical
- MDT - paediatrician, SALT, maxillofacial surgeon, orthodontist, ENT, cleft nurse specialist, geneticist
- feeding support
Surgical
- lip repair around 3 months
- palate repair at 6-12 months
- further orthodontic surgery
- long term follow up for ENT - otitis media and Eustachian tube difficulties
Psychological
- reassure that surgical outcomes are good
- support groups - CLAPA and Operation Smile
Pathophysiology of spina bifida
Brain and spinal cord develop from ectoderm-derived neural tube
Failure of caudal end of tube to close
- normally closes days 17-30 of gestation
Types of spina bifida
Spina bifida occulta (SBO)
- vertebral arch defect with an intact spinal cord
- clinically apparent as a hairy patch of skin over area
- no neurological defect
Meningocele
- vertebral arch defect with herniation of the meninges but no the spinal cord
- covered with skin
- prognosis following surgery is good - < 10% developing neurological impairment or hydrocephalus
Myelomeningocele
- thoracolumbar defect with herniation of the meninges and spinal cord
- only meninges covering neural tissue - no skin
- prognosis depends on level and extent of lesion
Risk factors for spina bifida
Maternal folic acid deficiency - up to 50% of cases
Maternal medications - anti-epileptics
Maternal diabetes
Fhx
Mx of spina bifida
Medical
- for severe defects - MDT management at tertiary centre - neurosurgeons, paediatricians, orthopaedics, urology, child development, psychology
- mx of neuropathic bladder
Surgical
- meningocele and myelomeningocele managed with surgical closure
- close monitoring for development of hydrocephalus
Psychosocial
- specialist nurses and early psychological support
