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Phase 3A medicine > Paediatric FC from ppt > Flashcards

Paediatric FC from ppt Flashcards

1
Q

what are the 4 fields of development

A
  1. gross motor
  2. fine motor and vision
  3. speech, hearing and language
  4. social, emotional and behavioural
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2
Q

what is the difference between age and limit age for developmental milestones

A

median age - when half of a standard population of children reach that level of development

limit age - the age a child is expected to have acquired a particular skill/reached a particular milestone

limit age is usually 2 standard deviations from the mean

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3
Q

what are the median and limit ages for walking

A

median - 12 months

limit - 18 months

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4
Q

how should you adjust developmental milestones for prematurity

A

age correct up to 2 years of age

i.e. a 9 monht old baby who was 2 months early - only expected to be at a developmental stage of a 7 month ond

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5
Q

should vaccinations be adjusted for prematurity

A

no

vaccines must be given according to chronological age

babies born <28 weeks should receive their first set of immunisations in hospital due to apnoea risk

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6
Q

what are the primitive reflexes

A

moro - startle - symmetrical extenstion and flexion of the limbs if you suddenly lower them backwards

grasp - grabbing an object placed in their hand

rooting - turning head towards stimulus placed near mouth

stepping

positive supporting reflex (legs push up against gravity when placed)

atonic neck reflex

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7
Q

when should the primitive reflexes have diminished by

A

4-6 months

if they haven’t - could be a sign of cerebral palsy

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8
Q

when should a baby be able to sit unsupported

A

6 months

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9
Q

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

A

10 months

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10
Q

when should a child be able to draw a line, circle, cross, square and triangle

A

line - 2 years
circle - 3 years
cross - 4 years
square - 4.5 years
triangle - <5 years

*these drawing skills are being able to draw without being shown how it is done, they can copy (after being shown) 6 months earlier

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11
Q

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

A

12 months

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12
Q

when should a child be able to talk in sentences

A

2.5-3 years

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13
Q

at what age should a child start smiling

A

6 weeks

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14
Q

at what age should a child be toilet trained during the day

A

2 years

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15
Q

at what age do children start playing with someone else interactively

A

3 years

before 3 - normal for a child to play by themselves

after 3 you would expect them to start sharing/interacting, so may worry if they struggle to play with others >3 years

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16
Q

when do children have their hearing checked

A

newborn hearing screening

hearing screening when they start school

if parents concerned about hearing

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17
Q

up to what age is it normal to be able to see a squint in a child

A

newborns may appear to squint when looking at near obejcts

by 12 weeks - NO SQUINT should be present at all

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18
Q

when is vision screening performed

A

pre-school children

school entry

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19
Q

what are some causes of developmental delay

A

genetic - chromosomal abnormality, brain malformation
congenital hypothyroidism
teratogenic medications during pregnancy
hypoxic brain injury during birth
history of meningitis
head trauma (accidental or non-accidental)
brain hypoxia due to near drowing, seizures
unknown

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20
Q

what are some genetic causes of severe visual impairment

A

congenital cataracts
albinism
retinal dystrophy
retinoblastoma

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21
Q

define strabismus

A

misalignment of the visual axes

also known as squint

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22
Q

what is the most common cause of squint

A

failure to develop binocular vision due to REFRACTIVE ERRORS of the eyes

(can also be caused by cataracts, retinoblastoma and other intra-occular problems that must be excluded)

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23
Q

what are the 2 divisions of squints

A

non-paralytic (concomintant, common) - usually due to refractive error, often treated by glasses but may need surgery

paralytic (rare) - due to paralysis of the motor nerves. When rapid onset, can be sinister - due to underlying SOL

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24
Q

what tests can be done to detect squint

A

corneal light reflex test - shine pen torch in eyes, reflection of light should appear in same position in both eyes. If not, there may be squint

cover test - cover good eye and the squinting eye will move. Perform close (33cm) and distant (6m) as some squints are only present at one distance

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25
Q

what are the refractive errors seen in childhood

A
  1. hypermetropia
  2. myopia
  3. amblyopia
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26
Q

what are hypermetropia and myopia, and why are they important to correct early

A

hypermetropia - long sightedness (MC)

myopia - short sightedness (uncommon and less likely to elad to permenant visual changes)

correct early to avoid amblyopia - irreversible damage to vision

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27
Q

what is amblyopia

A

also known as lazy eye

potentially permanent loss of visual acuity in an eye that has not received a clear image

usually affects one eye

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28
Q

what causes amblyopia

A

any interferemce with visual development:

squint
refractive erros
ptosis
cataract

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29
Q

how is amblyopia treated

A

glasses to correct visual impairment

patching of good eye to force lazy eye to work

early treatment essential - after 7 years unlikely to improve

considerable support to children and parent - children do not like having eye patched

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30
Q

name some of the ways in which visual impairment can present in childhood

A

loss of red reflex (from cataract)
white reflex in the pupil (retinoblastoma, cataract, ROP)
not smiling responsivley by 6 weeks
lack of eye contact with parents
random eye movements
failure to fix and follow
nystagmus
squint
photophobia

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31
Q

how can you treat strabismus

A

conservative - glasses, orthoptic exercises to improve eye muscle control

surgery:
strengthen procedure - resection
weakening procedure - recession of muscle on side the eye goes towards
esotropia (eye pointing inwards) - strengthen lateral rectus by resection, recession of the medial rectus
exotropia - opposite

botox injections - paralyse muscle that is pulling the eye in a certain direction

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32
Q

describe some possible behavioural changes that may present as a result of hearing loss

A

appears to daydream
sits near the TV and turns the volume really loud
watches the speaker’s face closely for clues
misunderstands/slow in responding
answers questions incorrectly
soft/fuzzy speech
doesn’t turn immediately when name called
aggressive
alowly schoolwork/grades start to get worse

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33
Q

what are the 2 categories of hearing loss and the underlying pathology behind them

A

conductive hearing loss - an obstruction in the ear canal preventing sound from getting through (often reversible)

sensorineural hearing loss - nerve damage (progressive, never reversible)

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34
Q

what are the causes for conductive hearing loss in children

A

most common - congestion behind the eardrums (with a cold)

glue ear
ear wax
middle ear infection
peforated ear drum
structural abnormality of the outer ear - certain syndromes

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35
Q

what are some risk factors conductive hearing loss

A

Down’s syndrome
craniofacial syndromes
cleft palate

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36
Q

if you performed a test with a vibrating tuning fork in someone with conductive hearing loss, what would you find

A

better hearing through bone conduction

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37
Q

how do you manage conductive hearing loss

A

most are self-limiting (inner ear infection/cold)

ENT referral - insertion of grommets to help drain excess fluid out of the middle ear

hearing aids if they have a permanent cause for the hearing loss

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38
Q

what are some causes of sensorineural hearing loss

A

unknown in many cases
genetic / syndromal
perinatal cause - trauma, infection, hypoxia at birth
congenital infections - rubella, CMV
meningitis - pneumococcus can cause ossification of the cochlear
premature babies - increased risk

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39
Q

if you were to perform a vibrating tuning fork test on someone with sensorineural hearing loss, what would you find

A

hearing is not better through bone

on audiology - hearing loss worse in higher frequencies

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40
Q

how do you manage sensorineural hearing loss

A

hearing aids
cochlear implants
aim = raise the level of hearing so that as much speech is audible as possible

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41
Q

which cases are cochlear implants reserved for

A

profound hearing loss (>90 decibles)

high frequency

bilateral hearing loss

meningitis hearing loss

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42
Q

what are some long term effects of hearing loss

A

developmental delay - particularly in speech and language

behavioural problems - too loud or too quiet

impact on education

impact on friendship and social life

impact on emotions/psychosocial impact

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43
Q

name some members of the MDT involved in child development services

A

paediatrician
PT
OT
SALT
dietician
nurses
health visitor
psychologist
family therapist
social worker
key worker
teachers and school nurses may also be involved

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44
Q

what is the role of the MDT service for child development

A

help liaise between home and school and the childs care needs
assess the child’s functional ability and need
to provide therapy where needed
to provide psychosocial support to the family
to ensure health needs of the child are met

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45
Q

what is down’s syndrome

A

trisomy 21

chromosomal abnormality in which there are three copies of T21, rather than 2 copies

leads to specific learning difficulties and dysmorphic features

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46
Q

what is the main risk factor for down’s syndrome

A

increasing maternal age

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47
Q

what are the 3 causes/mechanisms by which Down’s syndrome can arise

A
  1. non-dysjunction - 94%
  2. unbalanced Robertsonian translocation - 4%
  3. gonadal mosaicism - 1% (milder phenotype)
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48
Q

what is non-dysjunction

A

an error in meiosis 1
pair of chromosomes 21s fail to seperate - one gamete has 2 21s and other has none
fertilisation of gamete w/ 2 = zygote with trisomy 21
parents chromosome do not need to be examined
related to maternal age
47 chromosomes in karyotype

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49
Q

what is translocation and which chromosome is often involved in trisomy 21

A

extra copy of chromosome 21 joined onto another chromosome - usually C.14

these children will have 46 chromosomes on a karyotype - but 3 copies of 21 material (one portion tacked onto 14)

parental chromosomes analysis is needed - one parent is a carrier in 25% of cases

translocation carriers have 45 chromosomes on karyotype (one of the 21s is in wrong place)

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50
Q

what are some classic appearance features seen in someone with Down’s syndrome

A

flat bridge of nose
flat occiput
wide space between the eyes
small mouth and hence apparently large tongue (pseudo macroglossia)
single palmar crease
eyes slanting down and inwards

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51
Q

what are some medical conditions that people with down’s syndrome are more at risk of

A

complete atrioventricular septal defect - ECHO all T21 babies

hypothyroidism

duodenal atresia

hypotonia

later in life - Alzheimer’s

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52
Q

how is Down’s syndrome screened for antenatally

A

risk score - serum markers and nuchal translucency

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

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53
Q

how do you manage a child with down’s syndrome

A

MDT team involvement
cardiology
endocrinology
childhood disability services
SALT
physio
special education needs school
liasion between school, healthcare and family imperative

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54
Q

what are some clincal features associated with Edward’s syndrome (T18)

A

low birthweight
prominent occiput
small mouth and chin
short sternum
flexed, overlapping fingers
rocker-bottom feet
cardiac and renal malformation
microcephaly
90% die in first year

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55
Q

what are some clinical features of Patau syndrome (T13)

A

structural defect of brain (single lobed)
scalp defects
small eyes (microopthalmia)
cleft lip and palate
polydactyly
cardiac and renal malformations
not compatible with life

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56
Q

how are Patau’s and Edwards syndrome diagnosed

A

often antenatally - abnormalities detected on USS, risk score comes back high for trisomy

prenatal diagnosis - amnio or CVS

karyotype genetic analysis confirms diagnosis at birth

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57
Q

what is Turner’s syndrome

A

a chromosomal condition in which females only inherit one copy of the X chromosomes, rather than 2 copies

should be 46, XX

Turner’s = 45, X or 45 XO

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58
Q

what are some clinical features of Turner’s syndrome

A

female
short stature
webbed neck
infertility/primary amenorrhoea
delayed puberty
wide spaced nipples

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59
Q

what congenital heart defects is associated with Turner’s syndrome

A

coarctation of the aorta

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60
Q

how is Turner’s syndrome diagnosed

A

clinical suspicion

diagnosis confirmed on karyotypin (45, XO)

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61
Q

how is Turner’s syndrome managed

A

growth hormone therapy

oestrogen replacement - develop secondary sexual characteristics at time of puberty

infertility - IVF

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62
Q

what is Klinefelter’s

A

a genetic condition in which males inherit an extra copy of the X chromosome - karyotype = 47, XXY (should be 46, XY)

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63
Q

what are some clinical features of Kleinfelter’s syndrome

A

male
Tall stature
infertility - adult life
delayed puberty - lack of pubic hair
gynaecomastia in adolescence

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64
Q

how do you treat Kleinfelter’s syndrome

A

testosterone replacement - 1 injection/month for life

promotes development of sexual characteristics

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65
Q

what is fragile X syndrome

A

an inherited form of learning disability due to a trinucleotide repeat expansion on the X chromosome

affects males more thna females as they have protection from their other X chromosome

females have a milder phenotype

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66
Q

what are the clinical features of Fragile X syndrome

A

‘cocktail personality’ - happy, bouncy children
macrocephaly
large ears
learning difficulties/autism
joint laxity
large testes
hypotonia
mitral valve prolapse

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67
Q

how would a diagnosis of Fragile X syndrome be confirmed

A

FISH testing (fluorescence in situ hybridisation) - to look at the content of the cells

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68
Q

what is DiGeorge syndrome

A

abnormal branchial arch development

leading to problems with the heart, thymus and palate

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69
Q

what are the clinical features of DiGeorge syndrome

A

CATCH 22:

cardiac
abnormalities
thymus hypoplasia (T-cell dysfunction => primary immune def.)
cleft palate
hypocalcaemia

22 - defect - chromosome 22 material deletion

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70
Q

which type of cardiac abnromalities are seen in DiGeorge syndrome

A

truncus arteriosus
tatralogy of fallot
interrupted aortic arch
coarctation

vascular ring around trachea => stridor

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71
Q

what investigation should be done in someone with suspected DiGeorge syndrome

A

T-cell count
CXR - any pt with recurrent infections to look for thymus

anyone with congenital cardiac disease - test for diGeorge

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72
Q

what is Noonan’s syndrome

A

look like the boy version of Turner’s
short stature
webbed neck
ptosis
hypothyroidism
pulmonary stenosis
hypogonadism

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73
Q

what is Marfan’s syndrome

A

a connective tissue disorder
caused by fibrillin deficiency

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74
Q

what are some clinical features of Marfan’s syndrome

A

arachnodactyly
aortic dilatation => aneurysm => dissection
lens dislocation
long arms and legs
high arched palate
lax/hypermobile joints

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75
Q

what regular investigation is important in someone with Marfan’s syndrome

A

ECG - check for aortic dilatation - fix to prevent dissection

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76
Q

which type of connective tissue abnormality is associated with Ehler-Danlos syndrome

A

Elastin defect

so affects collagen - skin etc

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77
Q

what are the signs and symptoms of Ehlers-Danlos syndrome

A

stretchy skin
able to touch thumb to radius side of their arm
excessive bruising (weak collagen in blood vessels)
tissue fragility
brain aneurysms
‘cigarette paper scars’ - shiny thin scars on the skin
poor healing

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78
Q

what are the types of mendelian inheritance

A

auto dom
auto rec
X-linked
Y-linked

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79
Q

what is the chance of inheriting an autosomal dom condition from an affected parent

A

50%

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80
Q

give some examples of auto dom conditions

A

adult polycystic kidney disease
familial hypercholesterolaemia
Marfan’s syndrome
Huntington’s disease
some cancers - BRCA

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81
Q

give three reasons why someone may have an auto dom condition but a negative family history

A

MC = non-paternity

new mutation

gonadal mosaicism

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82
Q

what is the risk of inheriting an autosomal recessive condition from 2 carrier parents

A

1 in 4 (25%)

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83
Q

what is the risk of that a sibling of a child affected with an auto rec condition is a carrier

A

2 in 3 carrier risk for unaffected siblings

(take away possibility of them being affected)

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84
Q

what is the population carrier risk for CF

A

1 in 25

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85
Q

what is a big risk factor for auto rec conditions, particularly in people with an Asian origin

A

consanguinous parents

especially in families with many generation of consanguinity - can look like an auto dom pedigree for a rec condition

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86
Q

general rule for auto dom vs rec conditions

A

dom = structural protein defects

rec - affects metabolic pathway

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87
Q

what transmission pattersn (i.e male to male/male to female) would be seen in an X-linked rec condition

A

NO male to male transmission (2 consecutive generational males squares shaded on a pedigree, it is not X linked)

every affected male will produce a female carrier

if mothercarrier:
- 50% sons affected
- 50% daughters carriers

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88
Q

give some examples of X-linked rec conditions

A

Duchenne’s and Becker’s
haemophilia A
some types of albinism
Fragile X syndrome

89
Q

what are the types of non-mendelian inheritance

A

multi-factorial/polygenic inheritance

imprinting and uniparental disomy

mitochondrial inheritance

90
Q

give an example of a disease which has multifactorial inheritance

A

combinaton between the pre-disposing genes and the lived environment

spina bifida

folic acid deficiency linked to SB and you have a higher risk if you had a sibling with it

91
Q

explain what imprinting and uniparental disomy is

A

for most genes both copies are expressed

some genes only are maternal or paternal expressed - IMPRINTING

Prader-willi and Angleman’s syndrome - cytogenic deletions of same region of C.15q or by uniparental disomy of C.15 (both copies of 15 come from same parent)

92
Q

what is the chromosomal abnormality in Prader-Willi syndrome

A

Chromosome 15

occurs when failure to inherit the active paternal gene occurs

so either inherit 2 copies from mum or an abnormal copy from dad

93
Q

what are the clinical features of Prader-Willi syndrome

A

hypotonia (even from neonate)
learning difficulties
obesity (due to hyperphagia)
small genitalia

94
Q

what is Angleman’s syndrome

A

Chromosome 15 abnormality

failure to inherit active maternal gene

2 copies from dad
Or abnormal copy from mum

95
Q

what are some clinical features of Angleman’s syndrome

A

severe learning difficulty
ataxia
broad based gait
characteristic facial appearance
epilepsy
‘happy puppet’ - unprovoked laughing and clapping
microcephalyb

96
Q

how is DNA analysis performed

A

DNA PCR

97
Q

what are the main roles of DNA analysis in genetic counselling

A
  1. confirmation of a clinical diagnosis
  2. detect female carriers for X-linked disorders
  3. detect carriers in auto rec disorders (siblings of CF patients)
  4. pre-symptomatic diagnosis of auto dom disorders (Huntington’s disease)
98
Q

woul you test a child from a parent with known Huntington’s if the parent asked, to see if child with have disease

A

Sorry not an option

Not performed on healthy children, wait until old enough until informed consent

99
Q

what is the role of a clinical geneticist

A
  1. involved in making diagnoses
  2. to explain the diagnosis to the family
  3. discuss prognosis
  4. discuss options available - genetic testing, screening, prenatal diagnosis
  5. refer to appropriate specialists for management
100
Q

what are the main reasons for a referral to genetic counselling

A

preconception advice for someone with a FHx of a genetic disorder

antenatal

from paeds - development delayed, dysmorphic features

carrier testing for known family history

adult onset conditions - advice whether they should have test if parents did

post-mortem - unexplained death to look for genetic cause

101
Q

what are the congential infections to be aware of

A

TORCHS

toxoplasmosis
other (HIV)
Rubella
CMV
HSV
Syphillis

102
Q

what treatment do yu give a pregnant woman with syphillis

A

IM BenPen

103
Q

what treatment do you give to a pregnant woman with toxoplasmosis

A

catch from cat poo

treatment - spiromycin

104
Q

what are some complications of measles

A

encephalitis
subacute sclerosing pan-encephalitis
febrile convulsions
giant cell pneumonia
diarrhoea
appendicitis
myocarditis

105
Q

what is Perthe’s disease and how does it present

A

degenertive condition of the hip joint due to avascular necrosis of the femoral head

more common in boys

features - hip pain (may present as knee pain), limp, shortening of affected leg, pain on int and ext rotation of hip

imaging - flattening of the femoral head

106
Q

what is the clinical presentation of Hirshprung’s disease

A

failure to pass meconium
symptoms of bowel obstruction - abdo distension, bilious vomiting
failure to thrive, low birthweight, size
PR exam = stool ejection
more common in boys

107
Q

what is the definitive diagnosis for Hirschprung’s disease

A

rectal biopsy

108
Q

what complications can occur to the fetus if the mother is infected with rubella during the pregnancy

A

congential cataracts
congenital heart disease
sensorineural deafness

109
Q

how are these complications prevented

A

MMR vaccine

if you see a pregnant lady - check they have MMR vaccine

110
Q

what is the main complication to worry about if a pregnant woman has CMV

A

90% babies normal at birth

5% may develop sensorineural hearing loss later in life

111
Q

are prenant women screened for CMV

A

no

no vaccine or antiviral therapy for CMV so screening no appropriate

112
Q

how is toxoplasmosis typically caught

A

eating infected meat
contact with infected cat faeces
pregnant women not screened

113
Q

what are the consequences of infection with toxoplasmosis during pregnancy

A

most infants born asymptomatic

other:
retinopathy
cerebral calcification
hydrocephalus

long term neuro disability

114
Q

what are the risks of chickenpox (varicella zoster) to the fetus during pregnancy

A

<20 weeks - risk of skin scarring and neuro damage

2 days before or 5 days after delivery - high viral load (fetus unprotected by maternal ABs) - mortality 30%

115
Q

how should a pregnant woman who has been exposed to chickenpox be treated

A

varicella zoster immunoglobulin

acyclovir

116
Q

is maternal syphilis screened for during pregnancy

A

YES

So is HIV and hep B

117
Q

how is maternal syphilis treated during pregnancy and what are the long term complications for the baby

A

penicillin

if fully treated a month or more before delivery - infant does not require treatment and has a good prognosis

if any doubt adequate maternal treatment - infant also treated with penicillin

118
Q

how much is an Apgar score out of

A

10

normal = between 7 and 10

119
Q

what factors are considered when giving an Apgar score

A

cardio
resp
colour
reflexes
tone

120
Q

what is the purpose of teh NIPE examination

A

detect congential abnormalities not already identified at birth - heart disease, DDH

check for potential problems that could arise due to family history

provide an opportunity for parents to ask questions about baby

121
Q

what are some common findings on a NIPE exam

A

congenital heart disease development dysplasia of hip (DDH)
Talipes (clubfeet) - positional or true
T21
cleft lip and palate
urogenital - hypospadias, undescended testes
spina bifida

122
Q

what are some common cardiac issues affecting premature babies

A

structural heart defect
patent ductus arteriosus
anaemia of prematurity

123
Q

what are some common resp problems affecting premature infants

A

surfactant deficiency - risk of resp distress syndrome

chronic lung disease of prematurity (bronchopullmonary dysplasia) - more prone to pneumonia and viruses - give palivizumab to protect against RSV

pneumothorax

apnoea, bradycardia and desaturations

124
Q

what are some common GI problems in premature babies

A

necrotising enterocolitis - underdeveloped gut bacteria = swollen gut and pedematous and risk of perforation (red, shiny, tender abdo in babies) - breast milk protective

feeding problems / nutrition - slower establishment of feeding, unable to suck and swallow until 33-34 weeks so will need IV - build feeds up slowly to reduce risk of NEC

125
Q

what are some common metabolic issues in preterm babies

A

hypoglycaemia - lack of glycogen stores developed

hypocalcaemia - kidneys and parathyroid not fully developed

electrolyte and fluid imbalance and hypothermia - excess losses through thin skin

osteopenia or prematurity

126
Q

what are some neurological problems that preterm babies are at risk of

A

long term neuro issues

apnoea of prematurity - brain stem not fully myelinated until 32-34 weeks so the pontine resp centre is not fully developed

intraventricular haemorrhage - diagnose with cranial USS

127
Q

what are the main infections that affect babies

A

preterm babies in general more prone to infections

Group B strep
E.coli and other gram neg
fungal infections - candida
viral infections - herpes from genital tract during delivery

128
Q

what eye problems affect premature infants and what is thought to be the cause of this

A

retinopathy of prematurity

occurs due to hyperoxic insult whilst the blood given vessels are still developing (premies baby giving O2 as they are struggling to breathe and end up damaging their eyesight)

129
Q

what is normally the cause of neonatal infection <48 hours and >72 hours

A

<48 hours - infection generally from the birth canal

> 72 hours - source of infection usually from the environment (catheters for nutrition, tracheal tubes, skin breaking procedures - drawing blood) - most common coagulase negative strep (epidemrins)

130
Q

what are some risk factors for early onset infection in neonates

A

prolonged ROM

if mother has fever during labour or develops one shortly after birth

if infant is pre-term

if mother is GBS+ve or has another genital tract infection

131
Q

whats the main risk factor for developing late onset neonatal infections

A

being on ICU or NICU - possibility of exposure t patogens and cross contamination

132
Q

what are the clinical features of neonatal sepsis

A

fever/hypothermia/temp instability
poor feeding
vomiting
apnoea and bradycardia
resp distress
abdo distension
jaundice
irritabilit
seizures
lethargy/drowsiness

133
Q

how does GBS infection tend to present

A

pneumonia
septicaemia
occasional meningitis

mortality - 10%

134
Q

which women are considered high risk for GBS infection and are therefore screened selectively (not everyone is screened)

A

pre-term babies
prev baby with GBS infection
prolonged ROM
fever > 38 degree during labour

intrapartum ABs given to these high risk ladies if possible

135
Q

where can listeria monocytogenes infection be caught from

A

unpasturised milk
soft cheese
undercooked poultry

can cause miscarriage, pre-term delivery and fetal infection

136
Q

how to manage conjunctivitis and sticky eyes in newborns

A

common - clean with water or saline

more troublsome discharge - maybe due to staph or strep - neomycin eye ointment

gonococcal infection - purulent discharge, 48 hours after birth, gram stain, treat with penicillin or 3rd gen cephalosporin - cleanse frequently

chlamydia trachomatis eye infection - purulent, 1-2 weeks of age, identify with immunofluroscent staining, treat with oral erythromycin for 2 weeks

137
Q

how should an infant born HBsAg positive mother be treated

A

Hep B vaccine shortly after birth to prevent vertical transmission

complete vaccine course during infancy and check antibody response

138
Q

what is in the septic screen done for infants presenting with signs of sepsis

A
  1. CXR
  2. urine sample
  3. LP - CSF sample
  4. blood cultures
  5. FBC
  6. U&E’s
139
Q

what should your immediate action be in child presenting with signs of sepsis

A

perform a septic screen

commence treatment without waitng for culture results

140
Q

which antibiotics would you prescribe

A

IV broad spec gram +ve and -ve cover

BETA LACTAM (amoxicillin) for gram +ve

aminoglycoside (gentamycin) for gram -ve

if cultures negative and child clinically well after 48 hours then ABx can be stopped

141
Q

why is it important to treat jaundice win neonates

A

to prevent kernicterus

this is billirubin induced encephalopathy caused by unconjugated bilirubin being deposited in the brain

this happens because babies blood brain barriers are not well developed so allow billirubin to cross the BBB

142
Q

what may cause neonatal jaundice

A

physiological jaundice

infection

haemolysis/haemolytic anaemia

metabolic disease

143
Q

how common is neonatal jaundice

A

60% of neonates experience it

144
Q

what are the causes of jaundice starting <24 hours of age

A

congenital infection

haemolytic disorders:
- Rhesus incompatibility
- ABO compatibility
- G6PD deficiency
- spherocytosis
- pyruvate deficiency

145
Q

what are the causes of jaundice between 24 hours and 2 weeks of age

A

physiological
breast milk jaundice
infection - UTI
haemolysis - G6PD deficiency, ABO compatibility
bruising
polycythaemia
Crigler-Najjar syndrome

146
Q

what are the causes of jaundice at >2 weeks of age

A

unconjugated:
- physiological or breast milk jaundice
- infection (UTI)
- hypothyroidism
- haemolytic anaemia (G6PD def)
- high GI obstruction

conjugated
- bile duct obstruction (biliary atresia)
- neonatal hepatitis

147
Q

what is physiological jaundice

A

no underlying cause behind mild or moderately jaundiced babies

bilirubin rises as infant adapts from fetal life - babies RBC have shorter lifespan (70), compared to adult (120), so increased destruction leads to higher amount of circulating bilirubin

hepatic bilirubin metabolism is less efficient in the first few days of life

can only be called physiologicla after other causes have been considered and ruled out

148
Q

which type of infection in particular tends to presenta as neonatal jaundice

A

UTI
(investigate - urine sample, blood culture, CXR, FBC)

149
Q

which type of jaundice is most worrying

A

persisten/prolonged jaundice

most jaundice between 2days-3weeks is physiological

however, prolonged is more likely to be sinister

150
Q

what would the parents complain of in a jaundiced infant

A

looks slightly yellow on skin or eyes

often only visible when outside in sunlight

151
Q

if prolonged jaundice was caused by biliary atresia or another type of cholestasis, what other associate symptoms would there be

A

pale stools
dark urine
probably off feeds and generally unwell in themselves
possible itching/scratch marks on their skin

152
Q

what investigations should be done on a child presenting with jaundice

A

serum bilirubin level

transcutaneous billirubin measurement

if suspicious biliary atresia - USS liver is gold standard diagnosis

153
Q

what factors need to be taken into consideration when assessing a jaundiced baby

A

age of onset (prolonged more worrying)

severity of jaundice

rate of change

gestation - pretemr infants more susceptible

clinical condition - pyrexia, hypothermia

154
Q

how can jaundice be treated

A

PHOTOTHERAPY
- blue-green (450nm wavelength)
- converts unconjugated bilirubin into harmless water-soluble pigment by photodegeneration
- no long term sequeale
- cover infants eyes
- side effects - temp, instability, rash, bronze discolouration

EXCHANGE TRANSFUSION
- if bilirubin levels are too high to be treated with phototherapy

155
Q

what are some risks for neonatal hypoglycaemia

A

preterm infants - lack of glycogen stores

IUGR infants - lack of glycogen stores

babies born to diabetic mothers - have hyperinsulinaemia in response to maternal hyperglycaemia

large for dates

polycythaemia

unwell for any reason

156
Q

how does neonatal hypoglycaemia present

A

jitteriness
irratibility
apnoea
lethargy
drowsiness
seizures

157
Q

what precautions need to be taken in babies at risk of neonatal hypoglycaemia

A

regular blood glucose monitoring at bedside

prevent by early and frequent milk feeding

if needs treating - IVI dextrose via central venous catheter

158
Q

what is the role of growth chart in paeds

A

assess whether a childs overall height is abnormal - below 2nd or above 98th centile

ass whether a child is failing to grow to their potential - drop below centile line

assess whether a child i losing or gaining weight to quickly - could be a sign of pathology

159
Q

how is mid-parental height calculated

A

for boys ((Dad + mum height in cm)/2)+7

for girls ((Dad + mum height in cm)/2)-7

160
Q

what is the first sign of puberty in gilrs

A

breast development (thelarche)

usually occurs between 8.5-12.5 years

menarche occurs on average 2.5 years after the start of puberty

161
Q

what is the first sign of puberty in males

A

testicular enlargement >4ml in volume (measured using a Prader Orchidometer)

usually occurs between 10-14 years of age

162
Q

what are the normal ages of onset of puberty for girls and boys

A

girls - between 8-12

boys - between 9-13

163
Q

what is considered early puberty in boys and girls - which are you more worried about

A

early in girls <8y/o
early in boys <9y/o

more worried about early puberty in boys - most commonly a brain tumour (pituitary adenoma)

in girls, early puberty more common

164
Q

what is considered late puberty in boys and girls - which is more worrying

A

girls >13 y/o
boys >14y/o

more worrying in gilrs - can be sign of abnormal karyotype such as Turner’s or primary ovarian failure

165
Q

what is the definition of short stature

A

height below the 2nd centile

166
Q

what are the causes of short stature

A

familial - parental shortness, fall in mid-parental range height

IUGR and extreme prematurity

constitutional delay of growth and pubery

endocrine - GH deficiency, steroid excess (Cushing’s), hypothyroidism

syndromes - Turner, Noonan, Downs

Chronic illness and failure to thrive

psychosocial deprivation

skeletal dysplasias - disproportionate limb and back length

167
Q

how do you investigate a child with short stature

A

serial measurements on growth chart
calculate mid-parental height
bone age scan - wrist X-ray
FBC and U&E
pituitary function test (GH)
dexamethasone suppression test (Cushing’s)
TFT
karyotype
coeliac antibodies (endomysial and ant-TTG)

168
Q

what is the definiton of tall stature

A

height above the 98th centile

169
Q

what are some causes of Tall stature

A

familial

obesity

syndrome - Marfan’s

hyperthyroidism

precocious puberty

congenital adrenal hyperplasia

excess GH secretion - true gigantism (then after puberty => acromegaly)

170
Q

what are some causes of precocious puberty in females

A

breast development before 8 y/o

usually idiopathic/familial

can occasionally be late presenting CAH

171
Q

what are some causes of precocious puberty in males

A

secondary sexual characteristics before 9 y/o
uncommon

usually brain tumour
CAH
gonadal tumour

172
Q

how could you investigate precocious puberty

A

full history + ages parents hit puberty

USS of uterus and ovaries

boys - MRI brain

173
Q

how do you treat precocious puberty

A

boys - treat cause

girls - if they okay, leave them. if not GnRH analogues to stop puberty progression until ready

174
Q

what are some causes of delayed puberty in females

A

absence of pubertal development by 14 years

constituional delay (mum and sisters also did)
systemic disease - Crohn’s, organ failure, CF
hypothalamic causes - stress, anorexia, excessive athletic training

175
Q

what is the most common cause of delayed puberty in boys

A

absence of pubertal development by 15 y/o

usually familial/constituional - may give testosterone if really bugging them
may be due to chronic disease - Crohn’s Cf, Coeliac

176
Q

how to treat delatyed puberty

A

identify and treat underlying pathology

reassure

testosterone for boys

oestradiol for girls

177
Q

what is the role of anti-mullerian hormone

A

produced by the sex-determining region of the Y chromosome

Role = prevent mullerian duct from persisting and instead encourage development of Wolffian ducts - stops fetus from being females and instead makes them male

178
Q

what is congenital adrenal hyperplasia

A

a condition where there 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 in gilrs causes virillisation of the external genitalia)

the reduced amount of circulating cortisol triggers a negative feedback response causing more ACTH to be released from the anterior pituitary

this then stimulates the adrenal gland to grow - hence hyperplasia

179
Q

what mode of inheritanve os CAH

A

autosomal recessive

180
Q

what is a large risk factor for CAH

A

consanguinous parents

181
Q

how does CAH present

A

femal babies - ambiguous genitalia (clitoral engorgement, fusion of labia)

male babies - salt losers - slat-losing adrenal crisis - vomiting, weight loss, floppiness, circulatory collapse

non salt-losing male babies - precocious puberty, tall stature, large muscles

females may also have preociouc puberty (if they have not already present with ambiguous genitalia)

182
Q

what would the biochemical abnormalities be in a salt-losing CAH baby

A

low plasma sodium
high plasma potassium
metabolic acidosis
hypoglycaemia

183
Q

how do you treat a baby in a CAH salt-losing crisis

A

IV saline
IV dextrose
IV hydrocortisone

184
Q

how is CAH treated

A

affected females - corrective surgery for external genitalia
internal genitalia not corrected until puberty/sexually active as they will need to use vaginal dilators to keeps passage patent

medical treatment - lifelong hydrocortisone (glucocorticoid) and in salt-losers lifelong fludrocortisone (mineralcorticoid)

NaCl may also need added before weaning

sick day adjustment of cortisol

185
Q

what investigations need to be done in babies born with ambiguous genitalia

A

determine karyotype

adrenal and sex hormone levels

USS of internal structure and gonads

186
Q

difference between glucocorticoid and mineralcorticoid

A

glucocorticoid = cortisol, control glucose

mineralocorticoid = aldosterone, controls salt, which is a mineral

187
Q

what are the advantages of breastfeeding

A

has the optimum macronutrients needed for baby

contains maternal ABs to protect against infection

free

helps mum lose the baby weight

‘breast feeding contraception’

helps maternal and baby bonding

reduced the risk of NEC in preterm infants

can help reduce the risk of post-menopausal breast cancers

188
Q

what are the disadvantages of breast feeding

A

mum has to do all feeds unless shes expressed milk

unknown intake so hard to quantify baby feeding amount

breast milk jaundice

transmission of drugs/infections from mum to baby

can be painful for mum

can be upsetting if baby doesn’t want to feed

insufficient vitamin D and K in breast milk - introduce solids at 6 months (for vit D) and Vit K - injection at birth

189
Q

define failure to thrive

A

failure to gain adequate weight or achieve adequate growth at a normal rate for age OR suboptimal weight gain in infants and toddlers

can also be weight/growth faltering

serial measurements on growth charts is needed for the diagnosis to be made

190
Q

how can mild and severe failure to thrive be quantified/classified

A

mild - fall across 2 centiles lines on growth chart

severe = fall across 3

191
Q

how can you differentiate a child who is constitutionally small from a child who is failing to thrive

A

consider overall clinical picture - normal child will have:
- no symptoms - happy, alert, responsive, normal milestones
- parents also short
- may have been extremely premature

192
Q

what are some non-organic causes of failure to thrive

A

MOST CHILDREN failing to thrive will be due to non-organic causes

any form of socioeconomic deprivation

maternal factors - depression, poor understanding of baby’s needs

poor housing

poverty

inadequate social support/lack of extended family

neglect/abuse

inadequate calorie intake (under-nutrition)

193
Q

what are some organic causes of failure to thrive

A

impaired suck/swallow - inadequate intake - cleft palate, neuro-motor dysfunction, CP

cardiac disease - breathlessness during feeding

malabsorption - Coeliac, CF, food intolerance, short gut syndrome

chronic illness - renal, liver, cardiac disease

excessive calorie loss - vomiting, protein enteropathy

increased caloried requirement - malignancy, throtoxicosis, CF

chromosomal abnormalities - Down’s

194
Q

how would you manage a child who is failing to thrive

A

full history - social factor focus

Examine - heart murmur, abdo distension, cough

bloods - FBC, U&E, CRP/ESRm, Coeliac screen, TFT

CXR and swab - CF

195
Q

how do you approach treating failure to thrive

A

increase parental support
paediatric dietician
SALT
specialist for paediatric problem (CF - resp)
social services
nursery placement
hospital admission
organic - identify and treat cause

196
Q

what is the most common surgical cause of acute abdo pain

A

appendicitis

uncommon under the age of 3

197
Q

what is the most common cause of intestinal obstruction in neonatal period

A

intussusception

between 2 months-2 years

usually at ileocaecal valve

198
Q

what are the causes of acute abdo pain in children

A

acute appendicitis

non-specific and mesenteric adenitis

intussusception

Meckel’s

malrotation

Medical cause - Lower lobe pneumonia, DKA, hepatitis, pyelonephritis

Boys - testicular torsion or strangulated hernia

199
Q

what are the symptosm of acute appendicitis

A

abdo pain - intially central colicky and then localise to RIF

anorexia

vomiting (normally only a few times)

200
Q

what are the signs of acute appendicitis

A

flushed face with bad breath

low grade fever

abdo pain aggravted by movement

persistent tenderness with guarding at RIF (McBurney’s)

Rebound tenderness

Rosving’s signs - LIF pressure = RIF pain

201
Q

what is the clinical presentation of non-specific abdominal pain and mesenteric adenitis

A

non specific abdo pain = pain resolves in 24-48 hours

pain less severe than appendicitis

tenderness (and position) variable

often accompanied by URTI and cervical lymphadenopathy

202
Q

what is the clinical presentation of intussusception

A

paroxsymal, severe, colicky pain

child become pale and draws up legs during pain

sausage shaped mass on abdo palpation

inconsolable crying

passage of RED CURRANT JELLY STOOLS

abdo distension

shock

vomiting

203
Q

what is the clinical presentation of Meckel’s diverticulum

A

severe rectal bleeding - neither bright red or true melena

can present as intussusception

can present as volvulus (bowel obsturction)

can present as diverticulitits which mimics appendicitis

204
Q

how does malrotation present

A

usually presents in first 1-3 days of life with intestinal obstruction

may present at any age with volvulus causing obsruction and ischaemic bowel

clinical features:
- bile or blood stained vomit
- abdo pain
- tenderness - from peritonitis or ischaemic bowel

often associated with exopthalmous and congenital diaphragmatic hernia

205
Q

what is the gold standard diagnosis for appendicitis

A

CT abdo

206
Q

how is a deifinitive diagnosis of mesenteric adenitis made

A

laparotomy or laparoscopy showing normal appendix and large mesenteric lymph nodes

207
Q

what is the gold standard diagnosis for intussusception

A

USS - target sign

others - AXR - distended small bowel and no gas distally

208
Q

how would you investigate suspected malrotation

A

urgent upper GI contrast study

need to do whenever there is blood or bile stain vomiting

209
Q

how do you treat appendicitis

A

appendicetomy

210
Q

how do you treat NSAP and mesenteric adenitis

A

leave alone

in some - appendicetomy may be done is symptoms persist and mesenteric adenitis can be definitley diagnosed

211
Q

how do you treat intussusception

A

aggressive fluid resus

reduction via air enema - USS guidance

laparotomy if above does not work

212
Q

how do you treat Meckel’s diverticulum

A

fluid resus

surgical resection

213
Q

how do you treat malrotation

A

urgent surgical correction

214
Q

how do you define recurrent abdo pain

A

recurrent pain, sufficient to interrupt normal activities

lasting for at least 3 months

215
Q

what are the causes of recurrent abdo pain in paediatrics

A

GI - IBS, constipation, non-ulcer dyspepsia, abdo migraine, gastritis, PUD, IBD, malrotation, coeliacs

gynae - dysmenorrhoea, ovarian cysts, PID, pregnancy

liver - hepatitis

pancreatitis

UTI

psychological - bullying, abuse, stress

216
Q

what is the clinical presentation of IBS

A

change of bowel habit

sensation of intra-abdo events (bloating)

pain - often worse before and relieved by defecation

mucousy stools

bloating

feeling incomplete defecation

constipation/diarrhoea/mixed

217
Q

how does non-ulcer dyspepsia present

A

epigastric pain

postprandial vomiting

belching

bloating

early satiety

heartburn

218
Q
A

Phase 3A medicine (5 decks)

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