Paediatrics ILA 4-6 Flashcards
what is posseting?
small amounts of milk that accompany returns of swallowed air?
what is regurgitation?
losses of fluid orally that are larger than posseting
what is vomiting?
forceful ejection of gastric contents
what are 4 causes of GORD in infancy?
- inappropriate relaxation of the lower oesophageal sphincter
- fluid diet
- horizontal posture
- shorter intra-abdominal length
at what age do most instances of infantile GORD resolve?
12 months/1 year
what 3 infant groups is GORD more likely in?
- preterm babies
- post-surgery for oesophageal atresia
- cerebral palsy
how do you diagnose complicated GORD in infants?
- clinical history
- 24 hour oesophageal pH monitoring
- 24 hour impedance monitoring
- oesophageal biopsies and endoscopy
how do you treat uncomplicated GORD?
- thickening agents
2. smaller, more frequent feeds
how do you treat complicated GORD?
- H2 receptor antagonists
- PPI
- Nissen fundoplication surgery
what are 5 signs that GORD in a baby is complicated?
- struggling to gain weight
- begins after 6 months
- projectile vomiting
- coughing or gagging
- blood in poo or persistent diarrhoea
what is pyloric stenosis?
a condition where there is hypertrophy of the pyloric muscle, resulting in obstruction of the gastric outlet
what is the ratio of boys to girls in babies that suffer pyloric stenosis?
4:1
what are 5 signs and symptoms of pyloric stenosis?
- vomiting (that is increasing in forcefulness and frequency and becoming projectile)
- hunger after vomiting
- dehydration
- weight loss
how do you diagnose pyloric stenosis?
- test feed
- possible palpable pyloric mass in RUQ
- US
how do you treat pyloric stenosis?
- correct fluid and electrolyte balance with IV fluids
2. pyloromyotomy
what are three metabolic imbalances that are associated with pyloric stenosis?
- hyponatraemia
- hypokalaemia
- hypochloraemic alkalosis
what are 4 signs and symptoms of IBS?
- non-specific abdominal pain
- bloating
- feelings on incomplete defecation
- constipation
what accounts for 60% of cases of gastroenteritis in developed countries?
rotavirus
what are three bacteria that cause gastroenteritis, and what is an associated symptom for each infection?
- campylobacter- severe abdo pain
- shigella- blood and pus in stool
- cholera- rapidly dehydrating diarrhoea
what are 3 groups that are at extra risk of dehydration in gastroenteritis?
- infants <6 months with low birthweight
- unable to tolerate extra fluids
- > 6 stools in 24 hours
what electrolyte imbalance is common in children with profuse diarrhoea as a result of gastroenteritis and how might it present in a severe case?
hyponatraemia, presents with seizures
what electrolyte imbalance is present in children with profuse diarrhoea as a result of gastroenteritis where the loss of water exceeds the loss of salt and how might it present?
hypernatraemia, jittery movements, increased tone, seizures
how do you diagnose gastroenteritis if the child is septic?
stool culture
what blood levels should be checked if a child with gastroenteritis required IV fluids?
- plasma electrolytes
- urea
- creatinine
- glucose
how do you treat gastroenteritis?
- primary and overarching treatment is oral rehydration solution
- IV fluids in shock
- antibiotics with sepsis
what 3 things might precipitate constipation?
- dehydration
- reduced fluid intake
- anal fissure
what are 5 conditions that must be considered in a constipated infant/child?
- hirschprung’s disease
- coeliac disease
- hypercalcaemia
- anorectal abnormalities
- hypothyroidism
what is the clinical presentation of long-standing constipation?
overdistended rectum with involuntary soiling and overflow diarrhoea
how do you treat constipation?
- stool softeners- polyethylene glycol and electrolytes (on a reducing dose over months)
- stimulant laxatives- senna
- osmotic laxatives- lactulose, if stool softeners are intolerable
- encourage child to sit on the toilet after mealtimes
how do you treat severe fecal retention?
enemas
what are 5 signs and symptoms of acute appendicitis?
- anorexia
- vomiting
- abdo pain centrally then localising to the right iliac fossa
- fever
- pain aggravated by movement
- persistent tenderness and guarding at mcburneys point
how do you diagnose acute appendicitis?
- clinical presentation and history
- ultrasound
- X-ray for faecaliths in younger children
how do you treat appendicitis with generalised guarding, and appendicitis with progressed symptoms?
- generalised guarding- antibiotics and fluid resuscitation
2. progressed symptoms- laparotomy
what % of boys get inguinal hernias?
5%
what is the basic clinical presentation of an inguinal hernia?
lump in the groin which can extend into the scrotum, it may be visible on straining.
what are 2 complications of an inguinal hernia?
- intestinal obstruction
2. testicular damage
how do you treat an inguinal hernia?
- gentle compression to reduce
2. surgery involving ligation and division of the processus vaginalis
what are five signs and symptoms of inflammatory bowel disease in children?
- weight loss
- abdominal pain
- bloody diarrhoea
- poor growth
- anaemia
how do you diagnose inflammatory bowel disease?
- FBC
2. CXR (for perforation), 3. colonoscopy (with biopsy)
how do you treat inflammatory bowel disease?
- steroids- prednisolone (in general, lots of differences in UC and crohns and severities)
- resective surgery
what are three symptoms that are suggestive of malabsorption?
- diarrhoea
- failure to thrive
- anaemia
what are 6 signs and symptoms of coeliac disease?
- anaemia
- fatigue
- diarrhoea
- weight loss
- short stature
- ‘irritable bowel’ symptoms
what are 2 conditions that are commonly associated with childhood crohn’s disease?
- type 1 diabetes
2. hypothyroidism
what are the two specific values that are raised in the bloods of someone with coeliac disease?
- IgA anti-tissue transglutaminase (IgA-tTG)
2. endomysial antibodies (EMA)
what blood value is most useful in diagnosing coeliac disease in children <18 months old
IgA anti-gliadin antibodies (IgA-AGA)
how do you diagnose coeliac disease?
- IgA-tTG, EMA or IgA-AGA in bloods
- villous atrophy on small bowel biopsy via endoscopy
- gluten challenge test- avoid until the diagnosis in in doubt
how do you manage coeliac disease?
gluten-free diet
what are 5 causes of malabsorption?
- coeliac disease
- cystic fibrosis
- post-enteritis enteropathy
- giardia
- rotavirus
- bacterial overgrowth
- worms
- short bowel syndrome
what is meant by ‘failure to thrive’?
poor weight gain in infancy where head circumference is preserved relative to height which is preserved relative to weight.
what are 7 features to note with a child who is failing to thrive?
- signs of abuse
- feeding patterns
- behaviour
- activity level
- family finances
- chart family heights
- dysmorphic face
what are 5 tests to do for a child who is failing to thrive?
- check feeding technique
- clean catch urine
- coeliac serology
- skeletal survey
- glucose
- LFT
- calcium
- proteins
- immunoglobulin
- crp
- TSH
what is marasmus and what condition is it associated with?
a lack of calories with a discrepancy between height and weight (height is preserved), associated with HIV.
what are five signs and symptoms of marasmus?
- distended abdomen
- diarrhoea
- infection
- mid-arm circumference <9.9cm
- decreased albumin
how do you manage marasmus?
- largely at home with 6 months+ of fortified feeds
2. may need parenteral feeding to restore hydration and renal function
what causes kwashiorkor?
decreased intake of protein and amino acids
what are 5 signs and symptoms of kwashiorkor?
- poor growth
- distended abdomen
- diarrhoea
- anorexia
- oedema
- skin and hair depigmentation
how do you treat kwashiorkor?
offer a gradually increasing high-protein diet
what is the pathophysiology of hirschprung’s disease?
congenital lack of ganglia in a segment of the colon leading to GI obstruction, constipation and megacolon
what is the main symptom of constipation?
therapy resistant constipation that cannot be treated by laxatives or stool softeners
what are 3 potential complications of hirschprung’s disease?
- GI perforation
- bleeding
- ulcers
how do you diagnose hirschprungs disease?
- rectal suction biopsy of the aganglionic section
2. staining for acetylcholinesterase-positive nerve excess
how do you treat hirschprungs disease?
surgical resection of the aganglionic section of colon +/- colostomy
what is the most common cause of intestinal obstruction in children?
intussusception
what are 5 signs and symptoms of intussusception?
- episodic inconsolable crying
- drawing up the legs
- red-currant jelly stools
- vomiting
- sausage shaped abdominal mass
how do you diagnose intussusception?
- ultrasound with reduction by air enema
2. CT
how do you manage intussusception?
- surgery
2. supportive care
what is meckel’s diverticulum?
a congenital defect involving an outpouching of the lower part of the small intestine, which contains embryonic remnants of gastric and pancreatic tissue
what are 2 signs and symptoms of meckel’s diverticulum?
- gastric acid secretion causing GI pain
2. occult bleeding
how do you treat meckel’s diverticulum?
laporoscopic resection of the outpouching
what is toddler’s diarrhoea?
a chronic, non-specific diarrhoea mostly affecting boys age 1-5, 3 or more loose watery stools per day that may be pale or poorly digested.
how do you treat toddler’s diarrhoea?
- usually no treatment is needed particularly if symptoms are mild
- fat, fluid, fruit juices and fiber (4 F’s)- eat more fat, change fiber, dont drink too many fruit juices or fluids
what is colic?
paroxysmal, inconsolable crying with drawing up of knees and excessive flatus
what % of babies experience colic?
40%
when does colic usually resolve?
3-12 months
what does severe and persistent colic usually indicate?
cow milk protein allergy
what 3 things should always be checked in a child with colic?
- testes
- hernia orifices
- hip joints
what are 5 infective/inflammatory causes of colic?
- appendicitis
- referred pain from lower lobe pneumonia
- DKA
- UTI
- pancreatitis
what are the two types of cow’s milk protein allergies?
- IgE mediated
2. non-IgE mediated
what are 4 signs and symptoms of cow’s milk protein allergy?
- colic
- GORD
- blood/mucus in stools
- faltering growth
how do you diagnose cow’s milk protein allergy?
allergen test using cow’s milk
how do you manage cow’s milk protein allergy?
- breastfed- mother must exclude cow’s milk from her diet
2. formula fed- switch to hypoallergenic, extensively-hydrolysed or amino acid formula
what is biliary atresia?
biliary tree occlusion due to angiopathy (scarred and blocked bile ducts leading to inadequate drainage)
what are 4 signs and symptoms of biliary atresia?
in previously healthy term babies, onset mostly between birth and 6-8 weeks-
- jaundice
- yellow urine
- pale stools
- later, palpable spleen and hard and enlarged liver
how do you diagnose biliary atresia?
- conjugated bilirubin fraction
- review of newborn screen
- LFT and clotting screen
- abdominal ultrasound if after these steps, it remains a viable diagnosis
how do you manage biliary atresia?
- without end stage liver disease-hepatoportoenterostomy (intestinal limb attached to drain bile from porta hepatis)
- with end-stage liver disease- liver transplant
- ongoing antibiotic prophylaxis and ursodiol
what % of patients with choledochal cysts present before the age of 10 years?
80%
what is a choledochal cyst?
a congenital abnormality of the biliary tree that can cause swelling and backing up of bile
what are signs and symptoms of choledochal cysts?
- obstructive jaundice
- abdominal mass
- colic, jaundice and palpable RUQ in 20%
how do you diagnose choledochal cysts?
- abdominal ultrasonography
- abdominal CT/ MRI
- endoscopic retrograde cholangiopancreatography
- can often be detected on antenatal ultrasound
how do you treat choledochal cysts?
surgical excision of the cyst
what are 4 signs and symptoms of neonatal hepatitis syndrome?
- faltering growth
- low birth weight
- jaundice
- hepatosplenomegaly
what are 3 causes of neonatal hepatitis syndrome?
- idiopathic
- viral- cytomegalovirus, rubella virus, hepatitis
- metabolic conditions
what are 5 signs and symptoms of acute liver failure?
- jaundice
- coagulopathy
- encephalopathy
- hypoglycaemia
- electrolyte disturbance
how do you manage acute liver failure?
- maintain glucose with IV dextrose
- broad spectrum antibiotics
- IV vitamin K and H2 blocking drugs to prevent GI haemorrhage
- fluid restriction to prevent cerebral oedema
what are five causes of chronic liver disease?
- hepatitis B
- autoimmune hepatitits
- wilson’s disease
- sclerosing cholangitis
- hepatitis C
what are five signs and symptoms of sclerosing cholangitis
- liver failure
- skin rash
- arthritis
- haemolytic anaemia
- nephritis
how do you diagnose sclerosing cholangitis?
- hypergammaglobulinaemia
- positive autoantibodies
- low serum C4
- histology
how do you manage sclerosing cholangitis?
- prednisolone and azathioprine
2. ursodeoxycholic acid
what are 5 signs and symptoms of wilson’s disease?
- liver disease
- tremor
- dysarthria
- parkinsonism
- ataxia
how do you diagnose wilson’s disease?
- LFT
- 24hr copper excretion is high
- serum copper and caeruloplasmin
how do you treat wilson’s disease?
- avoid foods with a high copper content
- lifelong penicillamine
- zinc to reduce copper absorption
- pyridoxine (vitamin B6) to prevent peripheral neuropathy
- liver transplant is considered
what are 4 signs and symptoms of encephalopathy?
- infants- irritability, sleepless
- changes to mood
- changes to sleep rhythm
- changes to intellectual performance
what is elevated in the plasma in encephalopathy?
ammonia
what should be restricted with encephalopathy?
protein
how do you treat pruritis?
- loose cotton clothing
- moisturising skin
- phenobarbitol and cholestyramine
what are 4 things that can precipitate encephalopathy in liver failure?
- GI haemorrage
- sepsis
- sedative drugs
- renal failure
what are 5 physical signs of cirrhosis?
- jaundice
- palmar erythema
- telangiectasia
- spider naevi
- hypotonia
what are 4 indications for liver transplant?
- severe malnutrition
- complications with medical management
- failure of growth
- poor quality of life
how do you treat variceal bleeding?
- blood transfusion
- H2 blockers
- octreotide infusion
- vasopressin analogue
- ligation
what are 4 factors that contribute to ascites?
- hypoalbuminaemia
- sodium retention
- renal impairment
- fluid redistribution
what are 5 signs and symptoms of a UTI?
- septicaemia
- collapse
- vomiting
- colic
- dysuria
- malaise
- fever
- irritability
- poor feeding
- suprapubic tenderness
what 2 conditions are the kidneys at risk of in a child with a UTI?
- renal scarring that if extensive can lead to renal failure
- chronic pyelonephritis
how do you diagnose a UTI and what 2 values will be raised in the primary diagnostic investigation?
- gold standard urine dipstick with a clean catch sample, raised nitrates or WCC +ve mean UTI is very likely
- urine microscopy and culture
what test can you do to look for renal scarring?
renography in children with a history of UTI’s
how do you manage a UTI?
- age <3 months- amoxicillin and gentamicin or cephalosporin and ampicillin
- uncomplicated- trimethoprim, nitrofurantoin or amoxicillin
- if ill- gentamicin also
how do you manage vesicoureteric reflux (cause of 35% of cases of UTI’s)?
prophylactic antibiotics and ureteric reimplantation
what is a UTI in the upper urinary tract called?
pyelonephritis (manifests the same as a lower UTI in general and has the same diagnostics and treatment)
what is nocturnal enuresis?
continued bedwetting in greater than 5 years and 6 years old in boys
what 3 things should sometimes be tested for with nocturnal enuresis?
- diabetes
- UTI
- GU abnormality
what is secondary enuresis and what might it indicate?
wetness after >6 months of dryness, could indicate worries, illness or abuse
how do you diagnose nocturnal enuresis?
- clinical presentation and history
2. can do urinalysis and urinary tract ultrasound to rule out UTI and GU abnormality
how do you manage nocturnal enuresis?
- advise and reassure
- avoid caffeine based drinks
- rewards for agreed behaviours
- setting alarms reminding to urinate
- desmopressin when it definitely needs to be avoided- EG school trips
what is hypospadias?
abnormal position of the external urethral meatus on the ventral penis
what procedure should be avoided in children with hypospadias?
circumcision
how do you manage hypospadias?
- reassurance and hygiene
- topical corticosteroid
- preputial surgery
what is phimosis?
excessively tight foreskin that causes difficulty with retraction over the glans
what are signs and symptoms of phimosis?
- ballooning foreskin on voiding
2. balanitis (can be chronic)
up to what age is it normal to have a non-retractile foreskin?
4 years old
how do you manage phimosis?
- stretching exercises
2. topical corticosteroid cream
what is the pathophysiology of haemolytic uraemic syndrome?
- acute microangiopathic haemolytic anaemia
- thrombocytopenia
- renal failure
- endothelial damage to glomerular capillaries
what symptom are 95% of cases of haemolytic uraemic syndrome associated with?
diarrhoea
what toxin is haemolytic uraemic syndrome associated with?
shiga toxin
what are 4 signs of haemolytic uraemic syndrome?
- colitis
- haemoglobinuria
- oliguria
- encephalopathy/ cns signs
- coma
how do you manage haemolytic uraemic syndrome?
- early dialysis if required with paediatric nephrology
- treat renal failure
- relapses can be prevented with steroids, splenectomy or vincristine
what are the two main signs/symptoms that would make you suspect acute kidney injury?
- rapid rise in creatinine
2. development of oliguria/anuria
what are 5 causes of acute kidney injury?
- secondary to cardiac surgery
- bone marrow transplantation
- drug toxicity
- sepsis
- haemolytic uraemic syndrome
what are 4 drugs that can cause acute kidney injury?
- nsaids
- aminoglycosides
- vancomycin
- aciclovir
what are the RIFLE criteria to categorise the degree of acute kidney injury?
based on magnitude of changes in EGFR and urine output-
- R- risk
- I- injury
- F- failure
- L- loss of function
- E- end stage renal failure
what are 5 plasma changes that are indicative of acute kidney injury?
- raised potassium
- raised creatinine
- raised urea
- low sodium
- low calcium
- low chloride
how do you diagnose acute kidney injury?
1. blood tests prompt abdominal ultrasound 2. ECG 3. serum and urine osmolality 4. clotting studies
what may be seen on ultrasound of a child with acute kidney injury that would require immediate surgical intervention?
dilation of the ureters
how do you manage acute kidney injury?
- treat shock and dehydration
- with low urine/plasma osmolality, use diuretics
- 24 hour fluid requirement
- treat the underlying cause
what are five causes of chronic renal failure?
- congenital dysplastic kidneys
- pyelonephritis
- glomerulonephritis
- recurrent infection
- reflux nephropathy
what are five things that should be monitored in a child with chronic renal failure?
- growth
- bp
- u+e
- calcium
- phosphate
what are 5 signs and symptoms of chronic renal failure?
- weakness
- tiredness
- vomiting
- headache
- restlessness
- twitches
- increased blood pressure
- hypertensive retionpathy
- anaemia
- failure to thrive
- seizures
- coma
how do you manage chronic renal failure?
- discuss and proceed with dialysis if necessary
- ensure that there is a dietician involved if vomiting is a problem
- growth hormone therapy can improve problems with growth
- ensure calcium is normalised to prevent renal osteodystrophy
- erythropoietin can be indicated with anaemia
what are the 2 main signs of nephrotic syndrome?
- heavy proteinuria
2. low albumin and oedema
what purpuric condition can cause nephrotic syndrome?
henoch-schonlein purpura
what are 5 signs and symptoms of nephrotic syndrome?
- insidious onset oedema, periorbital then generalised
- anorexia
- gi disturbance
- infections
- ascites
- oliguria
- irritability
what are the two main types of nephrotic syndrome?
- minimal change disease
2. congenital nephrotic syndrome
how do you diagnose nephrotic syndrome?
- urine- frothy, albuminous with or without casts, low sodium
- blood- low albumin, urea and creatinine are usually normal
- renal biopsy for older children
how do you manage nephrotic syndrome?
- pneumococcal vaccine prophylaxis
- eat healthily with no added salt or protein
- fluid restrict to 800-1000ml per day
- diuretics if very oedematous
- albumin infusion if severe oedema or hypovolaemia
- predinisolone, cyclophosphamide if steriod resistant
what is minimal change disease?
the most common form of nephrotic syndrome in children, with minimal histological change
what % of cases of minimal change disease are idiopathic?
90%
what are 2 things that differentiate congenital nephrotic syndrome from minimal change disease?
- congenital nephrotic syndrome usually begins within the first 3 months of life
- congenital nephrotic syndrome is due to a genetic mutation
what are 5 signs and symptoms of post-streptococcal glomerulonephritis?
- gross haematuria
- oedema
- hypertension
- malaise
- fever
- presents 7-21 days aftere a streptococcal infection
what are 2 infections that can precede post-streptococcal glomerulonephritis?
- impetigo
2. pharyngitis
how do you diagnose post-streptococcal glomerulonephritis?
- urine- proteinurea with rbc casts and oliguria
2. blood- raised urea and creatinine
how do you treat post-streptococcal glomerulonephritis?
- sodium restriction
- diuretics
- antihypertensive medication
- give penicillin for 10 days
- regularly check bp
- nitroprusside if encephalopathic
what is henoch-schonlein purpura?
an acute, immune complex-mediated vasculitis
what often precedes henoch-schonlein purpura?
upper respiratory tract infection
what is the triad of symptoms for henoch-schonlein purpura?
- purpura
- arthritis/ arthralgia
- abdominal pain
how do you diagnose henoch-schonlein purpura?
- urinalysis- proteinuria
- bloods- raised ESR, raised serum IgA
- U+E and BP
how do you treat henoch-schonlein purpura?
- analgesia
- corticosteroids
- surgical consultation with severe abdominal pain
what are 3 complications of henoch-schonlein purpura?
- massive GI bleeding
- ileus leading to intestinal obstruction
- acute renal failure
what is alport syndrome?
an inherited, progressive, haematuric nephropathy, categorised as a nephritic syndrome
what 2 organs can alport’s syndrome effects other than the kidneys?
- cochlea- sensorineural deafness
2. eyes- lenticonus
what substance is effected with alport’s syndrome?
collagen IV, the main constituent of the basement membrane
does lupus in children cause a nephrotic or a nephritic syndrome?
nephritic syndrome
what is a basic way to differentiate nephritic and nephrotic syndrome?
nephrOtic- prOtein
nephritic- bloo
what is a simple febrile convulsion?
a single tonic clonic, symmetrical, generalised seizure lasting <15 minutes due to a rise in body temperature
what is the typical age range for a febrile convulsion?
0.5 years- 6 years
what are five things you should think of/exclude in a child with a tonic-clonic convulsion if there are focal signs, more than one seizure in 24hrs or a history of epilepsy?
- meningo-encephalitis
- CNS lesion
- epileptic seizure
- trauma
- glucose levels
what are 2 aspects of the examination of a child with a febrile convulsion?
- find a source of infection
2. neck stiffness can point to meningitis
how do you treat a febrile convulsion?
if the convulsion does not go away by itself by 5 minutes-
- recovery position
- iv lorazepam, buccal midazolam or diazepam
- paracetamol syrup
what is a reflex anoxic attack?
a paroxysmal, self-limiting brief asystole triggered by pain, fear or anxiety.
what are four types of seizures in generalised epilepsy?
- tonic clonic
- absences
- infantile spasms/west syndrome
- myoclonic seizures
what are 4 signs of partial epilepsy?
- signs referable to one hemisphere
- decreased consciousness
- automatisms
- fits of pure pleasure
what are 5 causes of epilepsy?
- infection
- hyponatraemia
- reduced glucose
- CNS tumour or malformation
- flickering lights
what are 3 differentials for epilepsy in childhood?
- arrhythmias
- narcolepsy
- night terrors
how do you diagnose epilepsy?
- EEG
- MRI
- CT in an emergency
what are the names of 5 medications to manage epilepsy?
- carbamazepine
- ethosuximide
- sodium valproate
- lamotrigine
- vigabatrin
what other sense does the development of speech link to?
hearing- a problem with hearing can cause a delay in speech
when do children normally say their first word?
11-20 months
what are signs that the child is hearing and vocalising normally as a newborn, at 6 weeks and a 12 weeks?
newborn- quietens to voice and startles to loud noises
6 weeks- responds to mothers voice
12 weeks- begins to laugh, coo and vocalise
what is the average language development stage of a 6 month old?
consonant monosyllables like ba, da
what is the average language development stage of an 8 month old?
non-specific two-syllable babble like mama, dada
what is the average language development stage of a 13 month old?
2 syllable words become appropriate in context and can understand a restricted amount of simple words easily, such as ‘no’
what is the average language development stage of an 18 month old?
vocabulary of 10 words and can identify 6 parts of the body, 2 word phrases like ‘daddy come’
what is the average language development stage of a 24 month old?
subject-verb-object sentences appear like ‘i want icecream’
what is the average conversation development stage of a 2 year old?
sentences become increasingly complex
what is the average conversation development stage of a 3 year old?
know their age, name and several colours
what is the average conversation development stage of a 3 1/2 year old?
mastered thought, laungage, abstraction and reason, heaving a 1000 word vocabulary
what are four broad causes of delayed talking?
- familial- parents had speech delay
- hearing impairment- possibly chronic otitis media
- environmental- deprivation, abuse
- neuropsychological
what are 3 neuropsychological causes of delayed talking?
- global developmental delay
- landau-kleffner syndrome
- autism spectrum disorder
what are the 3 most likely cause of speech delay in a child with a vocabulary of less than 50 words at 3 years?
- deafness
- expressive dysphasia
- speech dyspraxia
what is the most likely cause of speech delay in a child with low speech clarity at 2.5 years old?
articulatory dyspraxia, often caused by tongue tie
how do you manage speech delay?
speech therapy
what is global neurodevelopmental delay?
delay in all skill areas, usually more pronounced in fine motor, speech and social skills.
what are 3 genetic causes of global neurodevelopmental delay?
- down’s syndrome
- fragile X syndrome
- duchenne muscular dystrophy
what are 2 congenital brain abnormalities that cause global neurodevelopmental delay?
- hydrocephalus
2. microcephaly
what are 2 pre-natal causes of global neurodevelopmental delay?
- teratogens such as alcohol or drugs
2. congenital infection like rubella or cmv
what are 2 peri-natal causes of global neurodevelopmental delay?
- birth asphyxia
2. extreme prematurity leading to intraventricular haemorrhage
what are 2 post-natal causes of global neurodevelopmental delay?
- head injury
2. CNS infection
at what age do babies normally learn to walk?
around 18 months old
what are 5 pre-natal causes of delayed walking?
- ante-partum haemorrhage
- x-rays
- alcohol
- cmv
- rhesus disease
what are 3 peri-natal causes of delayed walking?
- birth trauma
- fetal distress
- hyoglycaemia
what are 3 post-natal causes of delayed walking?
- trauma/interventricular haemorrhage
- hypoxia
- meningoencephalitis
what are 2 investigations that should be arranged for a child with delayed walking?
- hip x-ray
2. creatine kinase
what main conditions should be excluded in a child with delayed walking?
cerebral palsy
how do you define cerebral palsy?
a chronic disorder of posture and movement caused by a non-progressive CNS lesion sustained before 2yrs
what are 5 signs of cerebral palsy?
- weakness
- paralysis
- delayed milestones
- seizures
- language/speech problems
what are the 4 main types of cerebral palsy?
- spastic
- dyskinetic
- ataxic
- mixed
what type of lesion does spasticity in cerebral palsy suggest?
a pyramidal lesion
what type of lesion does dystonic (involuntary) movements in cerebral palsy suggest?
a basal ganglia lesion
what are 3 signs of spastic hemiplegia?
- early development of hand preference
- delay in walking
- increased deep reflexes in affected limbs
what are 2 signs of spastic diplegia?
- both legs affected worse than the arms
2. scissor legs
what are ‘scissor legs’ with spastic hemiplegia?
- hip flexion, adduction and internal rotation
- knee extension
- plantar flexion of the feet
what are 3 signs of spastic quadraplegia?
- seizures
- reduced IQ
- swallowing difficulties
what are 5 signs of dyskinetic cerebral palsy?
- unwanted actions
- poor movement flow control
- spasticity
- hypotonia
- reduced hearing
- dysarthria
what are 2 signs of ataxic cerebral palsy?
this is an uncommon type of cerebral palsy
- hypertonia
- hypotonia
how do you diagnose cerebral palsy?
- clinical history and signs
2. brain MRI
how do you manage cerebral palsy?
- occupational, physical and speech therapy
- orthoses
- adaptive equipment
- treatment of comorbidities like epilepsy
- botulinum toxin for spasticity
- levodopa for dystonia
- epidural cord electrostimulation
what is the prevalence of klinefelter’s syndrome?
1-2/1000
what are the sex chromosomes of someone with klinefelter’s syndrome?
XXY
what are 5 signs of klinefelter’s syndrome?
- infertility
- hypogonadism
- gynaecomastia
- tall stature
- normal puberty and intelligence
how do you diagnose klinefelter’s syndrome antenatally?
- chorionic villus sampling
2. amniocentesis
how do you manage klinefelter’s syndrome?
- fertility management
- testosterone replacement
- breast tissue removal
- psychological support
what are the sex chromosomes of someone with turner’s syndrome?
X
what are 5 signs and symptoms of turner’s syndrome?
- lymphoedema of the hands and feet
- koilonychia (spoon nails)
- short stature
- neck webbing
- wide nipples
- coarctation
- delayed puberty
- ovarian dysgenesis
- hypothyroidism
- renal abnormalities
how do you diagnose turner’s syndrome?
usually antenatally by detecting foetal oedema on ultrasound, but often results in early miscarriage
how do you manage turner’s syndrome?
- growth hormone therapy
2. oestrogen replacement
what is the most common genetic cause of cognitive impairment?
trisomy 21/ down’s syndrome
what are 6 signs of down’s syndrome?
- flat face/round head
- single palmar crease
- brushfield spots on the iris
- epicanthic folds
- cardiac malformations
what are 4 health conditions associated with down’s syndrome?
- lung problems, with reduced capacity in almost 100%
- congenital heart disease
- hearing loss
- leukaemia
how do you diagnose down’s syndrome?
- clinical features
- chromosomal karyotype
- xray for intestinal atresia or dysplastic pelvis
- nuchal thickening on US
- amniocentesis
what are 4 things that children with down’s syndrome should be screened for periodically?
- vision
- hearing
- hypothyroidism
- coeliac disease
what chromosome is affected in edward’s syndrome?
chromosome 18
what are 5 signs of edward’s syndrome?
- low birth weight
- prominent occiput
- small mouth and chin
- short sternum
- cardiac and renal malformations
- flexed overlapping fingers
what chromosome is affected in patau’s syndrome?
chromosome 13
what are 5 signs of patau’s syndrome?
- structural brain defects
- scalp defects
- small eyes
- cleft lip and palate
- polydactyly
- cardiac and renal malformations
how do you diagnose edward’s syndrome and patau’s syndrome?
amniocentesis and chromosomal analysis
what is the prognosis of edward’s syndrome and patau’s syndrome?
most die in infancy
what are 5 signs of fragile X syndrome?
- moderate to severe learning difficulty
- macrocephaly
- macroorchidism
- large everted ears
- prominent mandible
- mitral valve prolapse
- long face
how do you diagnose fragile X syndrome?
molecular analysis of trinucleotide repeat expansion of the relevant gene
what is the most common form of inherited intellectual disability?
fragile X syndrome
what is the current life-expectancy for cystic fibrosis?
40s
what is the name of the defective protein in cystic fibrosis?
CF transmembrane conductance regulator / CFTR
what are 4 pathophysiological effects of cystic fibrosis?
- impaired ion transport across epithelial cells
- impaired cilia function and retention of mucopurulent secretions
- dysregulation of inflammation
- blocked pancreatic ducts leading to pancreatic insufficiency and malabsorption
in blood from the heal, what substance is raised in children with cystic fibrosis?
immunoreactive trypsinogen
what is the cause of death in 95% of people with cystic fibrosis?
respiratory failure
how do you diagnose pancreatic insufficiency in someone with cystic fibrosis?
low faecal elastase
how do you diagnose cystic fibrosis?
- chloride sweat test
- spirometry for lung function
- immunoreactive trypsinogen
- low faecal elastase
how do you manage cystic fibrosis?
- twice daily physio to clear secretions
- physical exercise
- pphx fluclox
- nebulised DNase or hypertonic solution to loosen secretions
- azithromycin to reduce exacerbations
- lung transplant
- high calorie diet
in which gender is fertility affected by cystic fibrosis?
males, absence of the vas deferens
what gene is affected in duchenne’s muscular dystrophy?
dystrophin gene
what are 5 signs and symptoms of duchenne’s muscular dystrophy?
- waddling gait
- gower’s manoeuvre
- respiratory impairment
- cardiomyopathy
- orthopaedic complications like contractures
what is gower’s manoeuvre?
helps to diagnose duchenne’s muscular dystrophy, when the child is going to stand, they use their hands to climb up their legs
what age and gender is most often affected by duchenne’s muscular dystrophy?
boys aged 1-6
how do you diagnose duchenne’s muscular dystrophy?
- clinical presentation
- raised creatinine kinase
- abnormal muscle biopsy
- prenatal screening is available
how do you manage duchenne’s muscular dystrophy?
- maintain walking with orthoses
- prednisolone slows decline in strength and function
- DMARD is under development
- gene therapy may be an option
what is the prognosis of duchenne’s muscular dystrophy?
median age of death is 31 years old
what are five signs of angelman’s syndrome?
- severe developmental delay
- ataxia
- speech impairment
- excessive laughter and smiling
- arm flapping
what are 5 signs of prader-willi syndrome?
- hypotonia
- faltering growth in infancy
- obesity
- learning difficulties
- hypogonadism
what are 5 signs of noonan syndrome?
- mild learning difficulties
- short webbed neck
- pectus excavatum
- short stature
- congenital heart disease
what are 3 signs of william’s syndrome
- short stature
- congenital heart disease
- mild to moderate learning difficulties
what substance is deficient in neonatal respiratory distress syndrome?
surfactant in the lungs
what is the pathophysiology of respiratory distress syndrome?
widespread alveolar collapse and inadequate gas exchange due to deficient levels of surfactant
at what degree of preterm should you consider the likelihood of respiratory distress syndrome?
<28 weeks
what are 4 signs of respiratory distress syndrome?
- tachypnoea >60
- chest wall recession
- expiratory grunting
- cyanosis
how do you manage respiratory distress syndrome?
- raised ambient oxygen
- surfactant therapy
- CPAP
what complication occurs in 10% of neonates ventilated for respiratory distress syndrome?
pneumothorax
what are 5 causes of apnoea, bradycardia and desaturation in infants up to 32 weeks?
- hypoxia
- infection
- anaemia
- electrolyte disturbance
- hypoglycaemia
how do you treat apnoea, bradycardia and desaturation in infants up to 32 weeks?
caffeine and CPAP
infants who have oxygen requirements after 36 weeks are described as having what condition?
bronchopulmonary dysplasia
what are 4 causes of bronchopulmonary dysplasia?
- delay in maturation
- pressure/volume trauma
- artificial ventilation
- oxygen toxicity
what is meconium aspiration syndrome?
respiratory distress due to inhalation of meconium in utero
what are 4 signs of meconium aspiration syndrome?
- tachypnoea>60
- chest wall recession
- expiratory grunting
- cyanosis
how do you treat meconium aspiration syndrome?
- resuscitation
2. suction of nasopharynx and oropharynx with vision using a laryngoscope
what are 4 causes of hypoxic-ischaemic encephalopathy?
events in labour such as-
- interruption of umbilical flow
- inadequate placental perfusion
- compromised foetus
- failure to breathe at birth
what are 3 signs of hypoxic ischaemic encephalopathy?
- seizures
- weak cry
- low apgar scores
how do you manage hypoxic ischaemic encephalopathy?
- respiratory support
- treatment for seizures
- fluid restriction
- treatment of hypotension
- hypoglycaemia monitoring
- full recovery is possible if hypoxia is mild
which abnormal test shows that there is a chance of cerebral palsy following hypoxic ischaemic encephalopathy?
MRI at 5-14 days
what are 4 signs of perinatal toxoplasmosis?
- retinopathy
- cerebral calcification
- hydrocephalus
- asymptomatic
- neurological disability
how do you treat toxoplasmosis?
- pyrimethamine, sulfadiazine and leucovorin
2. prednisolone adjunct
what % of newborns become jaundiced due to physiological release of haemoglobin from red blood cells?
50%
what are 3 causes of neonatal jaundice?
- congenital infection
- dehydration
- bruising/ polycythaemia
where on the body does neonatal jaundice tend to start?
the head and the face
how do you diagnose neonatal jaundice?
- clinical presentation
2. bilirubin levels
how do you manage neonatal jaundice?
phototherapy or exchange transfusion
what is kernicterus?
encephalopathy due to deposition of unconjugated bilirubin in the basal ganglia and the brainstem nuclei
what are 2 signs of kernicterus?
- lethargy
2. poor feeding
what are 3 potential complications of kernicterus?
- choreoathetoid cerebral palsy
- learning difficulties
- sensorineural deafness
what are 4 signs/symptoms of necrotising enterocolitis?
- feed intolerance
- bile stained vomit
- distended abdomen
- stool containing blood
what emergency can necrotising enterocolitis progress to?
bowel perforation
how do you manage necrotising enterocolitis?
- stop oral feeding
- give broad spectrum antibiotics EG cefotaxime and vancomycin
- parenteral nutrition
what is the chief risk factor for necrotising enterocolitis?
prematurity
what is the mortality of necrotising enterocolitis?
20%
what is gastroschisis?
a condition where bowel protrudes through a defect in the anterior abdominal wall
how do you diagnose gastroschisis?
antenatal ultrasound diagnosis
how do you manage gastroschisis?
- cover exposed bowel in clingfilm
- keep the baby warm and hydrated, IV fluids
- surgical closure of the defect
what is oesophageal atresia?
a condition where the oesophagus ends in a blind pouch rather than connecting to the stomach
what are 2 prenatal signs of oesophageal atresia?
- polyhydramnios
2. small stomach
what are 4 postnatal signs of oesophageal atresia?
- cough
- airway obstruction
- increased secretions
- distended abdomen
- cyanosis
- aspirations
how do you diagnose oesophageal atresia?
- abdominal x-ray
2. failure to pass a catheter into the stomach, with x-rays showing it coiled in the oesophagus
how do you treat oesophageal atresia?
- stop feeding and suction the oesophageal pouch
2. surgery
what are 4 risks for developing hypoglycaemia in a neonate?
- IUGR- intra uterine growth restriction
- preterm
- maternal diabetes mellitus
- large for date
- polycythaemic
what are 5 signs/symptoms of hypoglycaemia?
- irritability
- apnoea
- lethargy
- drowsiness
- seizures
how do you diagnose hypoglycaemia?
blood glucose test less than 2.6
how do you treat hypoglycaemia?
- IV glucose
2. glucagon if there is no response to IV glucose
what are 3 signs/symptoms of group B strep infection?
- early onset sepsis
- respiratory distress
- pneumonia
what are 4 risks associated with group B strep infection in neonates?
- preterm
- prolonged rupture of membranes
- maternal fever or chorioamnionitis
- infection of previous infant
how do you manage group B strep infection?
IV antibiotics
what are 3 foods/drinks that can give the mother listeria?
- unpasteurised milk
- soft cheeses
- undercooked poultry
what are 3 complications of listeria?
- spontaneous abortion
- pre-term delivery
- neonatal sepsis
what are 5 signs/symptoms of herpes encephalitis?
- fever
- fits
- headaches
- odd behaviour
- dysphasia
how do you diagnose herpes encephalitis?
- urgent pcr of csf
2. ct/mri non-specific temporal lobe changes
how do you manage herpes encephalitis?
prompt aciclovir
what is the physiology of a cleft lip?
failure of fusion of frontonasal and maxillary processes
what is the physiology of a cleft palate?
failure of fusion of palatine processes and nasal septum
what medication taken during pregnancy can lead to cleft lip/palate?
anticonvulsants
how do you manage cleft lip/ cleft palate?
- surgical repair of cleft lip at 3 months
- surgical repair of cleft palate at 6-12 months
- specialist feeding devices
what condition is common secondary to cleft lip/palate?
otitis media
what are the developmental milestones that should be reached at 6 weeks?
- smiles
2. follow eyes past midline
what are the developmental milestones that should be reached at 4-6 months?
- sitting without support
- rolling
- reaching for objects
- babbling
what are the developmental milestones that should be reached at 6-9 months?
- crawling
- pulling to stand
- responds to name
- gestures
- first tooth
what are the developmental milestones that should be reached at 7-12 months?
- pincer grasp
- walks with hand held
- waves goodbye
what are the developmental milestones that should be reached at 12-15 months?
- single words
- active listening
- drinking from a cup
what are the developmental milestones that should be reached at 18 months?
- speaks 6 words
- able to walk up steps
- independent walking
- scribbling and using building blocks
what are the developmental milestones that should be reached at 1.5-2 years?
- kicks/throws balls
- runs
- 2 word sentences
- follows 2 step commands
- uses a spoon
- helps with dressing
what vaccinations should a child have at the age of 8 weeks?
- 6 in 1
- rotavirus
- menb
what vaccinations should a child have at the age of 12 weeks?
- 6 in 1
- pcv
- rotavirus
what vaccinations should a child have at the age of 16 weeks?
- 6 in 1
2. menb
what vaccinations should a child have at the age of 1 year?
- hib/menc
- mmr
- pcv
- menb
what vaccinations should a child have at the age of 2-10 years?
flu vaccine
what vaccinations should a child have at the age of 3 years and 4 months?
- mmr
2. 4 in 1 preschool booster
what vaccinations should a child have at the age of 12-13?
hpv vaccine
what vaccinations should a child have at the age of 14?
- 3 in 1 teenage booster
2. menacwy