Paeds DEVELOPMENTAL/NEONATOLOGY Flashcards
Recall 4 milestones that should be reached by one year
Standing unsupported
Pincer grip
“mama, dada, no”
fear strangers
Recall 5 milestones that should be reached by 18 months
Stack 2 blocks
walk unaided
separation anxiety
know 6-12 words
scribbles
Recall 2 milestones that should be reached by 2 years
Link 2 words in sentences
understand 2 step commands
Recall the milestones that should be reached by 3 years
Gross motor: Hop on 1 foot, walk upstairs 1 foot per step, downstairs 2 feet per step
Fine motor: Draws a circle, bricks in a bridge, makes single cuts in paper with scissors, string of beads
Speech/ language: understands negatives + adjectives
Social: begins to share toys, plays alone without parents, eats with fork + spoon, bowel control
What are the 4 domains of development?
Gross motor skills (develop head to toe)
Fine motor skills
Language + speech
Social skills
In what period of life should primitive reflexes be present?
From birth, to no later than 6 months
Recall the 5 primitive reflexes
Moro (sudden head drop –> arms outstretched)
Stepping
Rooting
Palmar and plantar grasp
Atonic neck (fencing posture)
Why do gross motor skills develop from head to toe?
That is how myelination develops
At what age should a child run and jump?
2.5 years
What is the limit age for walking independently?
18 months
At what age should children babble polysyllabically?
5 months
At what age should children say 6 words with meaning?
18 months
At what age should children be able to smile?
6 weeks
How can abnormal progression be classified?
Slow but steady
Plateau,
Regression
Acute insult
What is tested in the full physical exam (first 72 hours)?
Eyes, heart, hips, testes
When is the Guthrie heel prick test done?
7 days
When is the new baby review done and what does it involve?
2 weeks: safe sleeping, vaccination, feeding, caring, development
How is hearing tested in the neonate, and when is this done?
Automated Otoacoustic Emission/ AOAE
At 4 weeks
When is the second full physical exam, and what does it involve?
At 6 weeks (done by GP) - DDH testing, testicles, heart, weight, length, vaccination discussion
Recall the timings of the immunisations done within the 1st year of life and what is included in each one
1st: 8 weeks: Men B, rotavirus, 6-in 1 DTaP/IPV/Hib/HepB
2nd: 12 weeks: also ‘6-in-1’, rotavirus + pneumococcal
3rd: 16 weeks: ALSO 6-in-1 + a repeat MenB
4th: 1 year: 1st MMR + boosters
When is HBV given, and to which infants?
At birth, to those whose mother is infected
When is BCG given to eligible infants?
At birth
What is included in a health review?
Development
Behaviour
Healthy eating
When are the health reviews conducted?
1 + 2 years
When are the 5th immunisations and what do they include?
3 years 4 months
DTP, polio, 2nd MMR
What is checked at 4 years?
Vision
What is checked on school entry?
Height, weight, hearing
When are the 6th and 7th immunisations and what do they include?
6th immunisations are at 12-14 years: 2 x HPV (6,11,16,18)
7th immunisations = at 14 years, DTP, MenACWY
Which paediatric milestones are checked at the 1 year health review?
Gross motor: should be walking unsteadily + standing independently
Fine motor: pincer grip (check for no hand dominance)
Hearing/ speech/ language: 2/3 words other than dada/mama with intent
Social/emotional/ behavioural: drink from cup with 2 hands
What is the mnemonic for remembering the components of the 6-in-1 vaccine?
Parents Will Immunise Toddlers Because Death -
Polio
Whooping cough
Influenzae B
Tetanus
B (hepatitis)
Diptheria
What classifies as a stillbirth (rather than a miscarriage)?
Foetus born with no signs of life >24 weeks of pregnancy
What is the difference between the perinatal and neonatal mortality rate?
Perinatal = stillbirths + deaths within 1st week
neonatal = deaths of live-born infants in first 4 weeks after birth
For how long is a baby considered a neonate?
Up to 28 days old
What is considered ‘term’?
27-41 weeks old
Recall the cutoff rates for low, very low and extremely low birthweight
Low = <2500g
Very low = <1500
Extremely low = <1000
How is small/large for gestational age calculated?
Small = in <10th centile, large = >90th centile
What does a routine neonate inspection exam include?
Head to toe systematic:
1. Birthweight + gestational age
2. General observation - posture? Pallor? Rash?
3. Head (many things to look for)
4. Breathing, HR + peripheral saturations
5. Femoral pulses + genitalia
6. Musle tone, DDH, whole of back + spine, DDH/ Club feet?
7. Reflexes
What is being looked for upon examination of the neonatal head ?
Head circumference (macro/microcephaly)
Eyes (red reflex)
Cephalohematoma (benign, self-resolving)
Caput Succedaneum - Cross Suture lines (self-resolving)
Tense fontanelle (raised ICP?)
Depressed fontanelle (dehydrated?)
What are the primitive reflexes?
Moro
Stepping
Asymmetric tonic
Palmar
Babinski’s
What are the components of the test for DDH?
Barlow’s (abduct and push joint posteriorly)
Ortolani’s (lift and externally rotate)
What is the Guthrie test?
Biochemical screening
When should the Guthrie test be done?
At 7 days old
What is included in the Guthrie test?
Congenital hypothyroidism
SCD
CF
6 metabolic diseases:
- PKU
- MCADD
- Maple Syrup Urine disease
- IVA (isovaleric acidaemia)
- Glutaric aciduria type 1
- HCU (homocysteinuria )
Which type of infection can cause sensorineural hearing loss in neonates?
CMV
What is the 1st and 2nd line options for testing hearing at birth?
1st line: Evoked otoacoustic emission- If earphone doesn’t produce an echo…
2nd line: Automated auditory brainstem response- Computer analyses the EEG wave forms evoked in response to a series of clicks
What features of FAS would be seen in the neonatal examination?
Microcephaly
Absent philtrum
Cardiac abnormalities
Reduced IQ
IUGR
Small upper lip
What is the triad of features seen in Rubella syndrome?
Cataracts
Deafness
Cardiac abnormalities
What abnormalities would be seen in a baby who is born to a mother with syphillis?
Saddle nose
Rhinitis
Deafness
Hepatosplenomegaly
Jaundice
What is the NIPE and when should it be done?
Neonatal + infant Physical Examination
<72 hours AND 6-8 weeks
What are the 4 major areas of the NIPE?
Heart, Eyes, Testes, Hips
What is positional talipes, and what causes it?
Feet remaining in in-utero position, due to intrauterine compression
How should positional talipes be managed?
Physiotherapy
What is club foot known as medically?
Talipes equinovarus
How should club feet be managed?
Ponsetti method (plaster casting and bracing)
Surgery if severe
What is the cause of hypoxic ischaemic encephalopathy ?
Perinatal asphyxia - may be due to placental abruption, interruption of umbilical blood flow (eg shoulder dystocia –> cord compression), maternal hypotension, IUGR or failure to breathe at birth
If hypoxic ischaemic encephalopathy continues post-natally, what will it cause?
Cerebral palsy
What are the key features of mild hypoxic ischaemic encephalopathy ?
Staring eyes, hyperventilation, hypertonia
What are the key feature of moderate hypoxic ischaemic encephalopathy ?
Cannot feed, possible seizures, hypotonic
What are the key features of severe hypoxic ischaemic encephalopathy ?
No normal movement in response to pain, tone fluctuates between hypertonic and hypotonic, seizures refractory to treatment, MODS
How should hypoxic ischaemic encephalopathy be managed?
Supportively
Resp support, anticonvulsants, fluid restriction (transient renal impairment), inotropes (to treat hypotension), therapeutic hypothermia (requires NICU)
At what age does brain injury classify as ‘acquired brain injury’ and not cerebral palsy?
2 years old
How can cerebral palsy be aquired post-natally?
Perventricular leukomalacia secondary to ischaemia (eg meningitis, very prem birth)
Recall some features of abnormal posture/tone due to cerebral palsy
Stiff legs which scissor
Hypotonia or spasticity
Inability to lift head
Rounded back when sitting
Fisted hands
Other than postural/ limb tone abnormalities, what abnormalities might be seen in cerebral palsy?
Feeding difficulties, abnormal gait, hand preference before 1 year old
How is gross motor function classified?
GMFCS (gross motor funtion classification system!)
What are the subtypes of cerebral palsy with their relative prevalences?
Spastic CP (90%) Dyskinetic CP (6%)Ataxic CP (4%)
What is the cause of spastic cerebral palsy?
Damage to UMN pathway (pyramidal tracts)
What is one of the pathognomonic features of spastic cerebral palsys opposed to other types of cerebral palsy?
Clasp knife rigidity - increased tone suddenly gives way under pressure
What are the 3 main types of spastic cerebral palsy?
1) unilateral/ hemiplegia:
- unilateral arm and leg, face spared
- tiptoe walk on affected side
- likely to have an unremarkable management and birth
2) BL/ quadriplegia: all 4 limbs, often severe
- poor head control –> low central tone + seizures - often have LD
3) Diplegia (legs affected to a greater degree)
- Abnormal walk
- Associated with pre-term birth damage
What are the possible causes of dyskinetic cerebral palsy?
HIE or kernicterus
What is kernicterus?
Brain damage due to hyperbilirubinaemia
Describe the phenotype of dyskinetic cerebral palsy
Variable muscle tone predominated by primitive motor reflexes:
- Chorea
- Athetosis (fanning fingers)
- Dystonia (twisted appearance)
What is the cause of ataxic cerebral palsy?
Damage to cerebellum - most geneticly determined
How should cerebral palsy be investigated?
History, clinical examination and developmental progress - if cause is not clear, MRI
What one clinical sign is always an indication for referral for cerebral palsy investigation?
Persistent toe walking
What are some red flags for other neurological conditions when considering a diagnosis of cerebral palsy?
Absence of other risk factors
FHx of progressive neurological disorder
Loss of already attained cognitive/ developmental abilities
MRI suggestive of progressive neurological disorder
How should cerebral palsy be managed?
Very MDT orientated
- Info about prognosis: eg children who can sit by age 2 are likely to be able to walk unaided by 6
- SCOPE disability charity
- Medication: stiffness = diazepam, sleeping = melatonin, constipation = movicol, drooling = anticholinergic
Recall some important things to say in PACES counselling of a cerebral palsy child’s parents
Explain that brain damage has occurred in early development
Explain that damage doesn’t get worse, but will change its manifestation as the child gets older
Refer to MDT - especially paediatrician
Longterm management = physiotherapy, SALT + SEN
Medication options
Give some reasons for physiological jaundice at birth
- Hb release from RBCs as there is high [Hb] at birth
- RBC lifespan being 70 days rather than 120 days
- Breast milk jaundice (but not until after >24 hours)
- BR metabolism being less efficient in first few days of life
What is the main danger of uBR buildup in neonates?
Kernicterus (a form of encephalopathy): it’s caused by a deposit of uBR in the basal ganglia
May develop into dyskinetic CP, LD + sensorineural deafness
How can uBR buildup in neonates be treated before any damage is done?
Phototherapy +/- IvIG and exchange transfusion
What would be the difference in clinical presentation between uBR buildup and cBR buildup?
uBR buildup –> kernicterus
cBR buildup –> dark urine + pale stools
In what situations should phototherapy be stopped?
If bronzing occurs: it means the child has a buildup of cBR, rather than uBR, which cannot be treated using phototherapy
How should investigations begin in neonatal jaundice?
- Check transcutaneous or serum BR levels
- Do a split BR to check uBR/cBR
- May want to do a blood film analysis
Recall some pathological causes of neonatal jaundice in babies <24 hours old
GRAPHIC DOG
- Gilbert’s
- Rhesus disease
- ABO incompatability (–> haemolysis)
- PK deficiency
- Hereditary spherocytosis
- Infection
- Crigler-Najjar
- Dubin-Johnson
- Other…
- G6PD deficiency
Recall 3 physiological causes of jaundice in a 2 day to 2 week old baby
Physiological jaundice
- due to immature liver, peaks at 3-5 days
Breastfeeding jaundice
- less milk intake –> more enterohepatic recycling
Breastmilk jaundice
- Decreased UGT1A1 activity (occurs following physiological jaundice)
What haemolytic and metabolic causes for jaundice might present in a 2 day to 2 week old baby?
Metabolic = Gilbert’s, Crigler-Najjar, Dubin-Johnson
Haemolytic: G6PDD, PK deficiency, hereditary spherocytosis (less likely to be ABO at this point)
What may be the cause of jaundice in a 2 day to 2 week old baby that didn’t present in first 24 hours?
Congenital hypothyroidism
Dehydration
Bruising (cephalohematoma)
Polycythaemia
How should jaundice be investigated in a baby over 2 weeks old?
Direct and indirect serum BR
Which of the conditions that cause jaundice in a 2 day to 2 week old baby might continue to the >2 weeks stage?
All - but physiological + breastmilk is most common
Recall 2 further causes of a buildup of uBR in a baby over 2 weeks old
Pyloric stenosis (presents at 2-4 weeks)
Congenital hypothyroidism*
Systematically recall the causes of a raised cBR in the neonate (>2w old)
Endocrine: Congenital hypothyroidism
GI: Billiary atresia, ascending cholangitis (can be caused by lipids on TPN)
Metabolic: Gal-1-PUT, A1AT deficiency, Tyrosinaemia type 1, peroxisomal disease
Other: CF, idiopathic neonatal hepatitis
For how long does jaundice have to persist in order to be defined as ‘prolonged’?
> 14 days if term
21 days if pre-term
At what age should investigations include a split BR rather than just a total BR?
2 weeks
What is a worrying BR in a baby >37w gestation (red flag for kernicterus)?
> 340
Recall the clinical features of kernicterus
Poor feeding, extreme letahrgy, hypotonia, high-pitched cry
Recall some investigations you might do to find the underlying cause of jaundice in a baby
TC/ serum BR within 6 hours of presentation
Haematocrit
DAT/ Coombs (haemolysis?)
G6PD levels (depending on ethnic origin)
TSH (hypothyroid?)
LFTs (ascending cholangitis? Biliary atresia?)
Blood group of M and B (ABO incompatible? Rhesus?)
Blood film + osmotic fragility (hereditary spherocytosis?)
MC&S of urine/ CSF (if ? infection cause)
How is treatment of neonatal jaundice guided?
There are thresholds at which phototherapy/ exchange transfusion are indicated
What are the options for treatment of neonatal jaundice?
Phototherapy +/- IV Ig
Exchange transfusion + phototherapy +/- IV Ig
How does phototherapy work?
Converts uBR to a water-soluble pigment that is excreted in urine
What important checks should be done during/ after phototherapy?
During: temperature, BR levels every 4-6 hours (with regular feed breaks)
After (12-18 hours post): check for a rebound hyperbilirubinaemia
When should intensive phototherapy be given?
- Rapidly rising BR
- Serum BR within 50mmol of exchange tranfusion threshold (after 72 hours life)
- BR level doesn’t respond after 6 hours of therapy
What are the 2 indications for exchange transfusion to treat neonatal jaundice?
- BR threshold reached
- Signs of kernicterus
What is an important thing to remember when giving an exchange transfusion?
Give folic acid afterwards to prevent anaemia
What are the possible causes of paediatric chronic lung disease?
Infection, barotrauma, iatrogenic injury
What is the pathophysiology of paediatric chronic lung disease?
Lung damage due to pressure and volume trauma from artificial ventilation, O2 toxicity and infection
What are appropriate investigations in paediatric chronic lung disease and what would pos results show?
CXR: widespread opacification
CBG/VBG: acidosis, hypercapnia, hypoxia
How can paediatric chronic lung disease be managed?
Respiratory support (!): prolonged artificial ventilation –> wean to CPAP –> wean to additional O2
Corticosteroid therapy - dexamethosone is useful for short-term clinical improvement (but concerns limit use)
What is the cause of RDS in neonates?
Deficiency of surfactant (common if born <28 weeks gestation)
Recall some risk factors for RDS
DM mother
2nd born of premature twin
How is RDS diagnosed?
It’s a clinical diagnosis
Can be supported by:
- Pulse oximetry
- CXR showing pneumothorax (from ventilation), ground-glass appearance
How can RDS be managed antenatally and postnatally?
Antenatal: steroid therapy + tocolytic therapy so steroids have at least 24 hours to work
Postnatal: oxygen and ventilation (caution: CLD), CPAP
When does meconium aspiration occur?
Exclusively in immediate neonatal period
What is the biggest RF for meconium aspiration?
Increased GA
What are the signs and symptoms of meconium aspiration?
Respiratory distress, chest retraction, hypoxia
How is meconium aspiration diagnosed?
CXR: shows overinflated lungs, patches of collapse and consolidation
May show pneumothorax or pneumomediastinum (from air leak)
How is meconium aspiration managed?
Observation: there will be meconium-stained amniotic fluid and no history of GBS
IV ampicillin and IV gentamicin (to treat features of infection)
CPAP (for severe cases)
What is meconium ileus?
Thick, sticky meconium that has a prolonged passing time
What is the normal period of delivery of meconium?
Within 24 hours
Recall 2 associations of meconium ileus
CF
Biliary atresia
How should meconium ileus be managed?
1st line: Gastrograffin enema
2nd line: surgery
Recall some differentials for billious vomiting in the neonate
NEC
Duodenal/ jejunal/ ileal atresia
Meconium ileus
Malrotation volvulus
What is the most important investigation to do in investigating billious vomiting, and what results might it show?
AXR: “Double bubble” sign = duodenal atresia
Air-fluid levels - jejunal/ ileal atresia
Dilated bowel loops –> NEC
How are duodenal/ jejunal/ ileal atresia managed?
Duodenal atresia –> duodenoduodenostomy
Jejunal/ ileal atresia –> laparotomy
How is malrotation volvulus managed?
Ladd’s procedure
When does malrotation volvulus present, and how is it diagnosed?
3-7 days
Upper GI contrast or USS
What is the pathophysiology of cleft lip/ palate?
Failure of fusion of the frontonasal and maxiliary processes
Recall one condition that babies with cleft lip/ palate are at an increased risk of
Secretory otitis media
Recall 2 maternal risk factors for cleft lip/ palate
Antiepileptic/ BDZ use
What are some pre-surgical concerns to bear in mind in cleft lip/ palate?
Specialised feeding
Watch out for aiway problems
Pre-surgical lip-tapping/ nasal alveolar modelling to narrow cleft
What is the name for a left-sided diaphragmatic hernia?
Bochdalek hernia
When does diaphragmatic hernia form in utero?
At around 6-8 weeks gestation
Recall 2 factors affecting prognosis in diaphragmatic hernia
- Liver position
- Lung-to-head ratio
What are the signs and symptoms of diaphragmatic hernia?
Respiratory distress at delivery
Concave chest at birth
How is diaphragmatic hernia diagnosed?
Routine USS following resp distress at birth
What does CXR show in diaphragmatic hernia?
mediastinum displaced to left, collapsed left lung, bowel loops in thorax
Recall the 1st and 2nd line management options for diagphragmatic hernia management
1st: NG tube and suction - prevents distention of intrathoracic bowel and allows breathing
2nd: Surgical reduction and repair, allowing re-expansion of the lung
- TPN/ ventilation needed for recovery
What is oesophageal atresia?
Malformation of the oesophagus so that it does not attach to the stomach
What is tracheo-oesophageal fistula?
Part of the oesophagus is joined to the trachea - often occurs alonsgide OA
What is the main risk of oesophageal atresia/ tracheo-oesophageal fistula?
Stomach acid can regurgitate into the lungs causing CLD/ BPD (bronchopulmonary dysplasia)
How will amniotic fluid be affected by a TOF that is preventing swallow?
Polyhydramnios
How should tracheo-oesophageal fistula/ oesophageal atresia be investigated?
NG tube to aspirate the stomach contents can quickly confirm or exclude
The gold standard = gastragaffin swallow
Recall the management of oesophageal atresia/ tracheo-oesophageal fistula
- Replogle tube to drain saliva from oesophagus
- Surgical repair (within a few days of birth) followed by NICU and ventilator support
What is biliary atresia?
Progressive fibrosis + obliteration of extra- + intra-hepatic trees, leading to chronic liver failure in 2 years
What are the subtypes of biliary atresia?
T1 - common bile duct atresia
T2 - cystic duct atresia
T3 - full atresia (>90%)
What are the signs and symptoms of bililary atresia?
Obstructive jaundic picture (pale stools, dark urine) with no vomiting
Hepatosplenomegaly
Normal BW –> faltering growth
Once a raised cBR has been identified, how can biliary atresia be diagnosed? What, then, is the gold standard?
USS showing triangular cord sign
LFT shows raised GGT
Gold standard: TIBIDA isotope scan (radioisotope scan of bile secretion) confirmed by ERCP and biopsy
What is the 1st-line management of biliary atresia?
Kasai hepatoportoenterostomy
Ligate fibrous ducts abive the join with the duodenum
Join an end of the duodenum directly to the porta hepatis of the liver
If unsuccessful –> transplant
How are the complications of biliary atresia managed?
Fat-soluble vitamins (as bile ducts affected)
Usodeoxycholic acid (this promotes bile flow)
Prophylatic Abx (to prevent cholangitis - cotrimoxazole)
What is small bowel atresia?
Congenital absence or complete closure of part of the lumen of the small bowel
Recall 3 associations of duodenal atresia
Congenital cardiac abnormalities
Down’s
Polyhydramnios
What are the signs and symptoms of small bowel atresia?
Bile-stained vomiting is the main one
If non-bilious may be duodenal rather than jejunal/ ileal
Abdominal distention
How should small bowel atresia be managed?
ABCDE to stabilise neonate+/- NG tube decompression
Surgical:
- primary anastomosis or LADD procedure if malrotation is present
- Need to examine the whole bowel while you’re at it to exclude other multiple atretic segments
What is the main gene implicated in CAKUT?
PAX 2
Recall 4 renal conditions of CAKUT
Multicystic kidneys
Renal agenesis
Medullary sponge kidney
Horseshoe kidney
Recall 3 non-renal conditions of CAKUT
Pelvouteric junction obstruction
Vesicoureteral reflux (in 30% of children presenting with UTIs)
Bladder outlet obstruction
Recall some antenatal signs of CAKUT
Oligohydramnios
Decreaed foetal UO
Recall some postnatal signs of CAKUT
Often present with UTI
Intra-abdominal mass
Haematuria
Renal calculi/ renal failure
Hepatosplenomegaly
What is Potter’s sequence?
BL renal agenesis
Abnormal facies (widely separated eyes, low set ears, receding jaw)
Caused by OLIGOHYDRAMNIOS
Recall five important investigations you could do when looking for a cause of CAKUT
Renal USS
DMSA scan (Tc-99) - detects scarring + functional defects
MCUG (micturating cystourethrogram) - visualises anatomy (would see VUR)
MAG3 renogram (also Tc-99) - dynamic screen shows MAG3 being excreted into urine using furosemoide
Genetic karyotyping
What are some signs of an atypical UTI?
Poor UO
Sepsis
Abdo/bladder mass
Failure to respond in <48 hours
Raised creatinine
Infection with non-E coli organisms
How do you choose which investigation to use in UTI?
If atypical UTI, recurrent UTI, or first UTI
<6m: Renal USS
If recurrent UTI or atypical UTI <3 years old: DMSA scan
If VUR is suspected on USS, obstruction or trauma: MCUG/ VCUG
What is the pathophysiology of VUR?
The ureters enter the bladder perpendicularly –> shorter intramural course –> VUR
What is the main factor affecting prognosis of VUR?
Whether there’s a renal cause or not: renal causes have a bad prognosis but non-renal causes have a pretty good prognosis if treated
What are the types of anorectal malformation, and how can you tell the difference between them?
Low anorectal anomaly = anus closed over - in a different position or narrower than usual + fistula to skin
High anorectal anomaly - bowel has closed end at high level, not connecting with anus - fistula is usually to bladder/ urethra/ vagina
What are the symptoms of anorectal malformation?
Absent/ delayed meconium
Swollen abdomen
Vomiting
If there’s a fistula they may pass stool from an abnormal area
How should anorectal malformation be investigated?
Checked on neonatal check - it’s a clinical dx
How is anorectal malformation managed in babies?
Surgical correction by 9 months
What is the normal period of time in which the testes descend?
Usually by 3m but can be up to 6m
At what point should a referral to a paediatric surgeon be made, if there is UL testicular undescent?
3 months
At what point should a referral to a paediatric surgeon be made, if there is BL undescent of testes?
May have a pituitary cause so immediately refer to paeds/ endo
What are the medical and surgical management options for cryptorchidism?
Medical: beta-hCG (may or may not be given)
Surgical: orchidopexy
What is the normal feed pattern in newborns?
45-90ml per 2-3 hours
What is the normal feed pattern in a 2 month old?
120-150mls per 3/4 hours
What is the normal feed pattern in a 6 month old?
Solids should be being introduced
By what age should bowel habit be similar for a child as an adult?
4 years
Recall the most common complication of long-standing constipation in children
Over-distention
Lose feeling needed to defaecate
Iinvoluntary soiling with overflow
How can constipation be treated in children?
Stool softeners (eg movicol)
If unsuccessful consider stimulant laxatives (eg senna)
Movicol can be used as a maintenance therapy
How is constipation diagnosed in a child?
2+ of the following:
< 3 complete stools per week
Hard, large stool or ‘rabbit dropping’
Overflow soiling 1+ year
Distress, pain, bleeding associated with stool
How is perinatal hypoxic ischaemia managed?
Therapeutic hypothermia - temp decreased down to 33 degrees for 3 days.
Associated with a small reduction in long-term disability.
What are common reasons for babies to require NICU care?
Prematurity (and associated complications of this)
CHD
Jaundice (e.g. haemolytic disease of the newborn)
GI abnormalities (Hirschsprungs disease, bowel atresia, abdominal wall deformities)
Infection
Hypoglycaemia
Perinatal hypoxic ischaemia
How does ITU, HDU and SCU on NICU wards differ?
The amount of babies per nurse, essentially level of care required.
ITU - 1 baby per nurse
HDU - 2 babies per nurse
SCU - 4 babies per nurse
When may paralysis or sedation of neonates be appropriate?
Rarely done but sometimes if the baby needs to stay still (TOF patients) or if they are fighting mechanical ventilation.
What is chorioamnionitis?
Chorioamnionitis is defined as an intrauterine infection of the foetal membranes and amniotic fluid caused by bacteria ascending from the vagina
What are the signs and symptoms of chorioamnionitis?
Symptoms
- Purulent vaginal discharge
- Fever
- Malodorous amniotic fluid
- Uterine tenderness / pelvic pain
Signs
- Maternal and foetal tachycardia (>120/160 respectively)
What are the risk factors for chorioamnionitis?
Prolonged labour
Premature rupture of membranes (PROM)
Invasive procedures (e.g. amniocentesis, internal monitoring)
Multiple vaginal exams
Frequent UTIs/STDs
Concurrent GBS infection
Smoking
First pregnancy
What are the common causative agents of chorioamnionitis?
Group B streptococcus
Mycoplasma pneumoniae
Ureaplasma
Gardnerella vaginalis
Escherichia coli
Bacteroides
What is necrotising enterocolitis?
A serious infection, primarily of preterm or sick neonates, characterised by intestinal necrosis.
What are the risk factors for NEC?
Prolonged rupture of membranes
CHD
SGA
Exchange transfusions
What are the complications of NEC?
Perforation
Peritonitis
Where is most commonly affected in NEC?
Terminal ileum
What is the prognosis of neonatal NEC?
20-30% will have concurrent sepsis
20% mortality rate
What are the diagnostic features of NEC?
Blood in stool
USS
AXR features (pneumatosis, dilated bowel)
Early x-rays may be non-specific but fixed dilated bowel loops that do not change with repeated X-rays is very concerning for NEC. .
What radiological sign would indicate perforation in NEC?
Pneumoperitoneum (air under the diaphragm)
What is the management of NEC?
NBM / bowel rest
NG drip and suck
Fluid resuscitation
Broad-spectrum Abx
TPN
Surgery if tissue non-viable
What is a common neurological complication of pre-term birth?
Intraventricular haemorrhage
How is intraventricular haemorrhage severity ascertained?
4 grades
Grade 1/2 - less bleeding, often no long-term complications
Grade 3/4 - more severe bleeding. Blood clots can form and block CSF drainage, causing hydrocephalus
What is the difference between a grade 3 and 4 IVH?
Grade 3 - haemorrhage compresses brain tissue
Grade 4 - haemorrhage extends into brain parenchyma itself (also known as intraparenchymal haemorrhage)
What is truncus arteriosus?
A cyanotic congenital cardiac defect where there is only one artery out of the heart (fails to divide into pulmonary artery and aorta) to the lungs and rest of the body. There is also normally a VSD or ASD.
How is trunks arteriosus investigated?
Most cardiac abnormalities are picked up on antenatal scans however if it is missed it can be confirmed via echocardiogram.
What are the different types of truncus arteriosus?
Type 1 - Posterior left side of TA gives rise to pulmonary trunk, which then branches into left and right pulmonary
arteries
Type 2 - No true pulmonary trunk; right and left pulmonary arteries arise separately directly from posterior aspect of TA
Type 3 - No true pulmonary trunk; right and left pulmonary arteries arise separately directly from the lateral aspect of TA
What are risk factors for truncus arteriosus?
Advanced maternal age
Maternal cigarette smoking
DiGeorge syndrome
What is the clinical presentation of truncus arteriosus?
Patients may be asymptomatic at birth but develop symptoms within 1st few days of life.
Cyanosis - mild to moderate initially, worsens once PVR falls
Symptoms of respiratory distress and
heart failure:
Shortness of breath
Grunting
Lethargic
Poor feeding
Diaphoresis
What developmental disorder is truncus arteriosus associated with?
DiGeorge syndrome
What chromosomal abnormality causes DiGeorge syndrome?
Microdeletion at location q11.2 of chromosome
22 (thus also called 22q11.2 syndrome).
What abnormalities arise with DiGeorge syndrome?
There is a defective development of the third and fourth pharyngeal pouches, leading to thymic and
parathyroid hypoplasia (causing T-cell immunodeficiency and hypocalcemia respectively)
Other abnormalities include:
Congenital heart defects (truncus arteriosus, ToF, ASD/VSD)
Characteristic facial features
Frequent infections
Neuropsychiatric disorders
What is the main gene responsible for DiGeorge syndrome?
TBX1
What are the main features of DiGeorge syndrome?
Congenital cardiovascular disease
Abnormal craniofacial features - cleft palate, low set ears, hooded eyes
Endocrine - hypoparathyroidism, GH deficiency
Thymic hypoplasia/aplasia - leads to T cell immunodeficiency
Learning disabilities
Hearing loss
Psychiatric disorders
What is the mnemonic for remembering the features of DiGeorge syndrome?
CATCH-22
C: Congenital heart disease
A: Abnormal facies
T: Thymic aplasia
C: Cleft palate
H: Hypocalcemia/hypoparathyroidism
22: 22q11.2DS, found on chromosome 22
What is an imperforate anus?
When the anus is missing or the hole is in the wrong place - it may be connected to the vagina or bladder by a fistula instead.
a.k.a anal atresia
What is the management of anal atresia?
Stoma formation (in the mean time) and eventual surgical correction
What is crytorchidism?
Undescended or ectopic testes
What percentage of boys will have undescended testes?
1-2%
How may cryptorchidism present?
Asymptomatic
O/E
Testes will be impalpable or high in the inguinal region
How is cryptorchidism investigated?
Normally a clinical diagnosis
USS may help in location testis
Hormonal testing - if impalpable bilaterally
How is cryptorchidism managed?
Orchidopexy before 2 years old
What are some complications of cryptorchidism?
Risk of malignancy in undescended testis and bilaterally
Infertility
