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Paeds Flashcards

1
Q

By when should a child be able to walk?

A

12 months

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2
Q

What is the limit age for walking?

A

18 months

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3
Q

By when should primitve reflexes be diminished?

A

4-6 months

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4
Q

Persistent primitive reflexes can be a sign of which condition?

A

cerebral palsy

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5
Q

By when should a baby be able to sit unsupported?

A

6 months

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6
Q

By when should a child be able to make a mature pincer grip?

A

10 months

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7
Q

When should a child start to express 2-3 words in addition to mama and dada?

A

12 months

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8
Q

When should a child be able to talk in sentences?

A

2.5-3 yrs

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9
Q

At what age should a child start smiling?

A

6 weeks

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10
Q

At what age do children start playing with someone else interactively?

A

3 yrs

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11
Q

Up to which age is it normal to be able to see a quint in a child?

A

12 weeks

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12
Q

What are some genetic causes of severe visual impairment?

A

congenital cataracts
albinism
retinal dystrophy
retinoblastoma

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13
Q

What is the most common cause fo squint?

A

misalignment of the visual axes due to refractive errors

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14
Q

What tests can be done to detect a squint?

A

Corneal light reflex test

cover test

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15
Q

What are the refractive errors seen in childhood?

A

hypermetropia
myopia
amblyopia

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16
Q

How can you treat strabismus?

A

Conservative - glasses and orthoptic exercises
Surgery - resection muscle to strengthen, recession of muscle to weaken
Botox injection

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17
Q

What are the causes for conductive hearing loss in children?

A 
congestion behind eardrum (cold)
glue ear
ear wax
middle ear infection - otitis media 
perforated ear drum 
structural abnormality of outer ear
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18
Q

What are the causes of sensorineural hearing loss?

A

genetic
perinatal - trauma, infection, hypoxia at birth
congenital infection - rubella, CMV
meningitis - pneumococcus can cause ossification of the cochlea
premature babies are at higher risk

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19
Q

What is the main risk factor for Down’s syndrome?

A

Advanced maternal age

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20
Q

What are the 3 mechanisms by which trisomy 21 can arise?

A
  1. non-disjunction
  2. unbalanced Robertsonian translocation
  3. gonadal mosaicism
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21
Q

What are some classical appearance features seen in someone with Down’s syndrome?

A 
flat bridge of nose
epicanthic folds
flat occiput 
wide space between the eyes
protruding tongue 
single palmar crease 
loose nape of neck 
low set ears 
space between halux and second toe
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22
Q

What are some medical conditions that people with Down’s syndrome are more at risk of?

A 
complete atriventricular septal defect 
hypothyroidism 
duodenal atresia 
hypotonia 
later in life - Alzheimer's
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23
Q

How is Down’s syndrome screened for antenatally?

A

risk score calculated based on serum markers and nuchal translucency

diagnostic testing offered if high risk score - amniocentesis or chorionic villus sampling

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24
Q

What are some clinical features associated with Edward’s syndrome (trisomy 18)?

A 
low birthweight 
prominent occiput 
micrognathia 
short sternum 
flexed, overlappying fingers 
cardiac and renal malformations
microcephaly 
90% die in first year
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25
What are some clinical features of Patau syndrome (trisomy 13)?
``` holoprosencephaly scalp defects microphthalmia cleft lip and palate polydactyly not compatible with life ```
26
What are some clinical features of Turner's syndrome?
``` 45, XO female short stature webbed neck infertility/primary amenorrhoea delayed puberty wide spaced nipples ```
27
What congenital heart defect is associated with Turner's syndrome?
Coarctation of the aorta
28
How is Turner's syndrome managed?
GH therpay oestrogen replacement for development of secondary sexual characteristics infertility - IVF
29
What is Kilnefelter's syndrome?
Male inherits extra copy of X chromosome so is 47, XXY instead of 46, XY
30
What are the features of Klinefelter's?
``` male tall stature slender with wide hips infertility delayed puberty gynaecomastia ```
31
How do you manage Klinefelter's?
testosterone replacement | 1 injection/month for life
32
What is fragile X syndrome?
inherited form of learning disability due to a trinucleotide repeat expansion on the X chromosome females have protection from other X chromosome so have milder phenotype
33
What are the clinical features of fragile X syndrome?
``` cocktail personality - happy, bouncy macrocephaly large ears learning difficulties/autism joint laxity large testes hypotonia mitral valve prolapse ```
34
How would a diagnosis of fragile X be confirmed?
FISH testing - fluorescence in situ hybridisation
35
What is DiGeorge syndrome?
Abnormal brachial arch development leading to problems with the heart, thymus and palate.
36
What are the clinical features of DiGeorge syndrome?
Catch 22 Cardiac Abnormalities Thymus hypoplasia (T cell dysfunction --> primary immune def) Cleft palate Hypocalcaemia 22- chromosome 22 material deletion defect
37
What types of cardiac abonrmalities are seen in DiGeorge syndrome?
``` truncus arteriosis tetralogy of Fallot interrupted aortic arch coarctation vascular ring around trachea --> stridor ```
38
What is Noonan's syndrome?
``` look like boy version of Turner's short stature webbed neck ptosis hypothyroidism pulmonary stenosis hypogonadism ```
39
What is Marfan's syndrome?
A connective tissue disorder caused by fibrillin deficiency
40
What are some clinical features of Marfan's syndrome?
``` Arachnodactyly - spider fingers aortic dilatation --> aneurysm --> dissection (echo!) lens dislocation long arms and legs high arched palate hypermobile joints ```
41
What type of connective tissue abnormality is associated with Ehler-Danlos syndrome?
Elastin defect - collagen abnormalities
42
What are the signs and symptoms of Ehler-Danlos syndrome?
``` Stretchy skin hyperflexible thumb excessive bruising tissue fragility brain aneurysms cigarette paper scars poor healing ```
43
WHat is the risk that a sibling of a child affected with an autosomal recessive condition is a carrier?
2 in 3 carrier risk for unaffected siblings = 66%
44
What is the population carrier risk for CF?
1 in 25
45
Give some examples of autosomal dominant conditions.
``` adult polycystic kidney disease familial hypercholesterolaemia Marfan's syndrome Huntington's disease Some cancer - BRCA - ovarian, breast ```
46
Give some examples of X-linked recessive conditions.
Duchenne's and Becker's muscular dystrophies some types of albinism haemophilia A fragile X syndrome
47
What is the chromosomal abnormality in Prader-Willi syndrome?
Chromosome 15 | 2 copies from MUM or abnormal copy from dad
48
What are the clinical features of Prader-Willi syndrome?
Hypotonia learning difficulties obesity (due to hyperphagia) small genitalia
49
What is the chromosomal abnormality in Angelman's syndrome?
Chromosome 15 2 copies from DAD or abnormal copy from mum
50
What are the clinical features of Angelman's syndrome?
``` severe learning difficulty ataxia broad based gait epilspey excessively happy - unprovoked laughing and clapping microcephaly ```
51
What are the congenital infections to be aware of?
``` TORCHS: toxoplasmosis other (HIV) rubella cytomegalovirus syphilis ``` or CHRiST: CMV, HSV, rubella, syphilis, toxoplasmosis
52
What tx do you give to a pregnant woman with syphilis?
IM benzylpenicillin
53
What tx do you give to a pregnant woman with toxoplasmosis?
spiromycin (they catch it from cat faeces or eating infected meat)
54
What are some complications of measles?
``` subacute sclerosing pan-encephalitis febrile convulsions giant cell pneumonia diarrhoea appendicitis myocarditis ```
55
What is Perthe's disease and how does it present?
Degenrative condition of the hip joint due to avascular necrosis of the femoral head. more common in boys hip, limp, shortening of affected leg, pain on inernal and external rotation of the hip imaging shows flattening of the femoral head
56
What is the classical presentation of Hirschsprung's disease?
``` failure to pass meconium symptoms of bowel obstruction - abdo distension, bilious vomiting FTT/low birthweight/size PR examination causes stool ejection more common in boys ```
57
What is the definitive diagnosis for Hirschsprung's disease?
Rectal biopsy
58
What complications can occur to the foetus if the mother is infected with rubella during the pregnancy?
congenital cataracts congenital heart disease sensorineural deafness so check MMR vaccine status in pregnant women!
59
What is the main complication to worry about if a pregnant woman has CMV?
sensorineural hearing loss later in life Pregnant women are not screened for CMV as there is no vaccine and no antiviral therapy so screening is not appropriate
60
What are the consequences of infection with toxoplasmosis during pregnancy?
retinopathy cerebral calcification hydrocephalus long term neuro disabilities
61
What are the risks of chicken pox to the foetus during pregnancy?
<20 weeks - risk of skin scarring and neuro damage 2 days before or 5 days after delivery - high viral load as foetus is not protected by maternal antibodies - mortality is 30%
62
How should a pregnant woman who has been exposed to chickenpox be treated?
VZIG (varicella zoster IG) acyclovir
63
Name 3 infectious diseases screened for in pregnancy?
syphilis, HIV and Hep B
64
How is maternal syphilis treated during pregnnacy and what are the long term complications for the baby?
penicillin if fully treated a month before delivery - good prognosis, infant does not require any tx if any doubt of adequate maternal tx, infant also treated with penicillin
65
What factors are considered when giving an Apgar score?
``` cardio resp colour reflexes tone ``` 7+/10 is normal
66
What causes retinopathy of prematurity?
result of hyperoxic insult as the premature neonate is given oxygen as it is sturggling to breathe as blood vessels are still developing and this leads to damage to their eyesight
67
What is the main risk factor for developing late onset neonatal infections?
Being in ICU/NICU
68
What are the clinical features of neonatal sepsis?
``` fever/hypothermia poor feeding vomiting apnoea and bradycardia resp distress abdo distension jaundice irritability seizures lethargy ```
69
How does GBS infection tend to present?
pneumonia septicaemia meningitis
70
Women with which risk factors are seletively screened for GBS infection?
pre-term delivery previous baby with GBS infection prolonged rupture of membranes fever>38 during labour intrapartum antibiotics given if possible
71
What can listeria monocytogenes infection be caught from?
unpasteruised milk soft cheese undercooked poultry can cause miscarriage, pre-term delivery and foetal infection
72
How to manage conjunctivitis and sticky eyes in newborns?
mostly just clean with water or saline or breastmilk troublesome discharge (staph or strep) - neomycin eye ointment Gonococcal infection - purulent discharge, tx with penicillin or 3rd gen cephalosporin Chlamydia trachomatis eye infection - purulent, 1-2 weeks of age, idenity with immunofluorescent staining tx with oral erythromycin for 2 weeks
73
What antibiotics would you prescribe for suspected neonatal sepsis?
IV broad spec ``` Beta lactam (amoxicillin) for gram +ve cover Aminoglycoside (gentamicin) for gram -ve cover ```
74
Why is it important to treat jaundice in neonates?
to prevent kernicterus
75
What are the causes of jaundice that presents within 24 hours of birth?
congenital infection haemolytic infections: - rhesus incompatibility - ABO incompatibility - G6PD deficiency - spherocytosis - pyruvate deficiency
76
What are the causes of jaundice between 24 hours and 2 weeks of age?
``` Physiological breast milk jaundice infection - UTI haemolysis bruising polycythaemia Crigler-Najjar syndrome (rare inherited disorder which affects bilirubin metabolism) ```
77
What are the causes of jaundice at >2 weeks of age?
``` Unconjugated: physiological breat milk jaundice infection hypothyroidism haemolytic anaemia high GI obstruction ``` Conjugated: bile duct obstruction (biliary atresia) neonatal hepatitis
78
What investigations should be done on a child presenting with jaundice?
serum bilirubin level transcutaneous bilirubin measurement if suspected conjugated bilirubinaemia - USS of liver is gold standard for diagnosis
79
What are some risk factors for neonatal hypoglycaemia?
``` preterm infants IUGR babies born to diabetic mothers have hyperinsulinaemia large for dates polycythemia unwell for any reason ```
80
How does neonatal hypoglycaemia present?
``` jitteriness irritability apnoea lethargy drowsiness seizures ```
81
What is the definition of short stature?
Height below the 2nd centile
82
What are the causes of short stature?
``` familial IUGR and extreme prematurity constitutional delay of growth and puberty endocrine - GH deficiency, Cushing's, hypothyroidism Turner's, down's noonan's chronic illness and FTT psychosocial deprivation skeletal dysplasias ```
83
How do you investigate a child with short stature?
serial measurements plotted on growth chat calculate mid-parental height bone age scan - wrist x-ray FBC, U&E pituitary function test dexamethasone suppression test - cushing's thyroid function tests karyotype coeliac antibodies - endomysial antibodies and anti-TTG
84
What is the definition of tall stature?
height above 98th centile
85
What are some causes of tall stature?
``` familial obesity Marfan's syndrome hyperthyroidism precocious puberty congenital adrenal hyperplasia true gigantism (before puberty and then acromegaly after) ```
86
What is congenital adrenal hyperplasia?
a condition in which htere is reduced production of cortisol +/- aldosterone most commonly due to 21-hydroxylase deficiency the cortisol and aldosterone pre-cursors are instead converted into testosterone (which causes virilisation of the external genitalia in girls) reduced amoutn of circulating cortisol --> increased ACTH production --> adrenal hyperplasia
87
What is the inheritance pattern of CAH?
autosomal recessive
88
What is a large risk factor for CAH?
consangineous parents
89
How does CAH present?
females - ambiguous genitalia males - salt-losing crisis with vomiting, weight loss floppiness and circulatory collapse
90
What would the biochemical abnormalities be in a salt-losing CAH baby?
hyponatermia hyperkalaemia metabolic acidosis hypoglycaemia
91
How do you treat a baby in a CAH salt losing crisis?
IV saline IV dextrose IV hydrocortisone
92
How is CAH treated?
corrective surgery for external genitalia issues in females ``` lifelong hydrocortisone (glucocorticoid replacement ) in salt-losers also lifelong fludrocortisone (mineralocorticoid replacement) ```
93
How can mild and severe failure to thrive be quantified?
Mild - fall across 2 centile lines on growth chart severe - fall across 3 centile lines on growth chart
94
What is the most common surgical cause of acute abdo pain in children?
Appendicitis (uncommon under age 3)
95
What is the most common cause of intestinal obstruction in the neonatal period?
intussusception (usually at ileocaecal valve)
96
What are the causes of acute abdo pain in children?
acute appendicitis non-specific abdo pain intussusception Meckel's diverticulum Malrotation Medical causes - lower lobe penumonia, DKA< hepatitis, pyelonephritis Boys - testicular torsion, strangulated inguinal hernia
97
What is Rovsing's sign?
LIF pressure causes RIF pain
98
What is the clinical presentation of intussusception?
``` Severe colicky pain sausage shaped palpable mass inconsolable crying passage of red currant jelly stool abdo distension shock vomiting ```
99
What is the clinical presentation of Meckel's diverticulum?
severe rectal bleeding - neither bright red nor malaena | can present as intussusception, volvulus, diverticulitis
100
How does malrotation present?
1-3 days of life with intestinal pbstruction bile or blood-stained vomit abdominal pain tenderness Often associated with exomphalos and congenital diaphragmatic hernia
101
What is the gold standard investigation for appendicitis?
CT abdo
102
How is a definitive diagnosis of mesenteric adenitis made?
Laparotomy/laparoscopy showing normal appendix and large mesenteric lymph nodes
103
What is the gold standard investigation for intussusception?
ultrasound scan - shows "target sign" XR abdo - istended small bowel and no gas distally
104
How would you investigate suspected malrotation?
urgent upper GI contrast study
105
What are the causes of recurrent abdominal pain in children?
GI - IBS, constipation, non-ulcer dyspepsia, abdo migraine, gastritis, PUD, IBD, malrotation, coeliac disease Gynae - dysmenorrhoea, ovarian cysts, PID - do pregnancy test if sexually active Liver - hepatitis pancreatitis UTI psychosocial - bullying, abuse, stress
106
What is the clinical presentation of IBS?
``` change in bowel habit sensation of intra-abdo events pain - relieved by defecation stools with mucus bloating feeling of incomplete defecation mix of constipation and diarrhoea ```
107
How does non-ulcer dyspepsia present?
``` epigastric pain postprandial vomiting belching bloating early satiety heartburn ```
108
How is abdominal migraine treated?
Pizotifen - serotonin receptor antagonist
109
What are the causes of vomiting in infants?
``` reflux feeding problems infection - gastroenteritis, whooping cough, UTI, meningitis dietary protein intolerances intestinal obstruction - pyloric stenosis, atresia, Hirschsprung's, malrotation, intussusception CAH inbonr errors of metabolism renal failure ```
110
What are the causes of vomiting in pre-school children?
``` gastroenteritis other infections - kidneys, septicaemia, meningitis appendicitis intestinal obstruction raised ICP coaeliac disease renal failure inborn errors of metablism torsion of testis ```
111
What is the gold standard investigation for GORD?
pH study
112
What other investigations might you do for GORD?
pH study barium swallow and meal Endoscopy trial PPI
113
How to manage a baby with GORD?
position of their feeds - on their left, hold them upright thicken feeds - Nestargel Gaviscon drugs - antacid, H2 block (ranitidine), PPI, domperidone surgery - Nissin fundoplication
114
What are some causes of acute diarrhoea?
viruses - rotavirus, norovirus, enterovirus bacteria - C.diff, E.coli, salmonella, campylobacter parasites - giargia other infections - otitis media, tonsilitis food allergies
115
What are the features of hypernatraemia dehydration?
complication of diarrhoea where water loss exceeds sodium loss ``` jittery movements increased muscle tone hyperreflexia convulsions drowsiness irritable ```
116
How does cow's milk protein allergy present?
``` loose stool vomiting FTT reflux mouth ulcers atopic hx - eczema, asthma, ahyfever bloody stools constipation very rarely - anaphylaxis ```
117
How does lactose intolerance present?
explosive watery stools abdominal distension flatulence audible bowel sounds
118
What investigations do you do for coeliac disease?
antibodies - endomysial and tissue transglutaminase gold standard - intestinal (jejunal) biopsy showing villous atrophy and crypt hyperplasia
119
What is encopresis?
involuntary soiling
120
What ae some ddx for constipation in children?
``` Hirschsprung's anorectal malformations spina bifida neuromuscular disease hypothyroidism hypercalcaemia coeliac disease food allergy/intolerance CF sexual abuse poor diet ```
121
How is constipation treated?
``` det, fluids, exercise toilet training star charts - simple reward scheme medications: softener - lactulose movicol stimulant - senna, docusate sodium bulking agent - fybogel ```
122
What is the main risk factor for neonatal respiratory distress syndrome?
Prematurity
123
What is the main risk factor for transient tachypnoea of the newborn?
Caesarean section
124
What are the features of a severe asthma attack?
``` SpO2 < 92% PEF 33-50% too breathless to talk or feed heart rate > 125 (>5yrs), >140 (1-5yrs) resp rate >30 (>5 yrs), >40 (1-5yrs) use of accessory neck muscles ```
125
What are the criteria for a life threatening asthma attack?
``` SpO2<92% PEF<33% silent chest poor resp effort agitation altered consciousness cyanosis ```
126
What are the symptoms of measles?
``` CCCK: cough coryza conjunctivitis Koplick spots on buccal mucosa ``` Rash - maculopapular, spreads from behind the ears fever marked malaise
127
What are the clinical features of mumps?
``` fever malaise parotitis pain on eating and drinking earache hearing loss - unilateral and transient ```
128
What are some complications of mumps?
``` viral meningitis and encephalitis orchitis - reduced sperm count in males oophoritis mastitis arthritis ```
129
What time of year do you expect to see rubella virus?
winter and spring months

NV - Phase 3A (7 decks)

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