Paediatrics 1 Flashcards

1
Q

Give 5 things we want to know about pregnancy and birth during a paediatric history

A
Problems during pregnancy 
Early/on time/late
Problems during birth
Need for SCBU
Birth weight 
Problems with baby checks
Breast feeding 
Immunisations
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2
Q

Give 5 things we want to know about development during a paediatric history

A
Milestones - gross motor, vision and fine motor, hearing and language, social 
Any concerns from parents/nursery/school
Behaviour/temperament 
Sleeping patterns
Eating habits
Bladder and bowel control
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3
Q

Give 5 things we want to know about social history during a paediatric history

A
Draw family tree
Understand how every member is related 
Who does the child live with 
Type of housing
Parental employment/health/smoking/alcohol/mental illness 
School/nursery - enjoyment, friends, progress, sports, attendance 
Other activitues
Social worker involvement
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4
Q

Give 3 things we want to know about family history during a paediatric history

A

Any relevant info
Health burden
Pregnancy/neonatal/childhood deaths
Consanguinity

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5
Q

What 2 measurements are crucial for examining growth and nutrition in babies?

A

Weight

Head circumference

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6
Q

What 3 things should be noted before/during a neonatal examination?

A

Note birth weight, gestational age and head circumference

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7
Q

Outline the neonatal examination - head

A

Head circumference
Shape
Presence of caput succedaneum or cephalohaematoma
Palpation of fontanelle and sutures

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8
Q

Outline the neonatal examination - face

A

Assess for dysmorphic features (e.g. Down’s syndrome)

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9
Q

What are Epstein’s pearls?

A

Small, harmless cysts that form in a newborn’s mouth during the early weeks and months which contain keratin
Resolve spontaneously, no cause for concern

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10
Q

Outline the neonatal examination - mouth and palate

A

Inspection and palpation of palate (cleft)

Presence of Epstein’s pearls or gum cysts

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11
Q

Outline the neonatal examination - eyes

A

Check red reflex (cataracts)

Presence of swollen eyelids or conjunctival haemorrhage

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12
Q

Outline the neonatal examination - colour and skin

A

Plethoric/pale/jaundiced
Check for central cyanosis
Skin rashes - erythema toxicum
Discolouration - capillary/cavernous haemangiomas, port wine stain (nevus flammeus), Mongolion blue spots

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13
Q

What is erythema toxicum?

A

‘Newborn acne’

Occurs in 1st week of life and resolves in 1-2 weeks

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14
Q

What is a nevus flammeus?

A

Port wine stain

Pink/red discolouration of the skin due to capillary malformation which may darken with age and is permanent

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15
Q

What is a haemangioma?

A

Lesion/tumour caused by collection of dilated blood vessels

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16
Q

What is a Mongolion blue spot?

A

Congenital dermal melanocytosis
Flat, blue-gray spots on the buttocks or lower back
Most common in non-Caucasian babies
Most prominent at 1 year, resolve in early childhood

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17
Q

Outline the neonatal examination - arm and hands

A

Posture - any evidence of nerve palsy
Count fingers
Examine palmar creases

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18
Q

Outline the neonatal examination - chest

A

RR and respiratory effort
Listen for air entry
Note any breast engorgement (both sexes)

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19
Q

Outline the neonatal examination - heart

A

Palpate for heaves/thrills
Listen to front and back (murmur)
Feel femoral and brachial pulses (coarctation, PDA)

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20
Q

What does a collapsing pulse in a neonate suggest?

A

Patent ductus arteriosus

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21
Q

Outline the neonatal examination - abdomen

A

Inspect and palpate
Check if meconium has been passed
Check for hernia/masses
Patent anus

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22
Q

What is meconium?

A

Thick, green, tar-like substance that lines a baby’s intestines during pregnancy, typically released in bowel movements after birth

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23
Q

Outline the neonatal examination - genitalia

A

Note abnormalities
Check if urine has been passed
Check presence of testes in the scrotum of males

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24
Q

Outline the neonatal examination - muscle tone and reflexes

A

Observe posture and movement
Pick baby up - when prone, head should lift
Assess Moro, grasp and suck reflexes

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25
Q

What is the Moro reflex?

A

Infantile reflex that is a response to a sudden loss of support and involves three distinct components: spreading out the arms, pulling the arms in and crying

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26
Q

Outline the neonatal examination - back and spine

A

Check for midline defects in skin (sacral dimple, tuft of hair, swelling, naevus, discoloration)

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27
Q

Outline the neonatal examination - hips

A

Observe groin creases
Check leg length is equal
Check hip abduction is symmetrical
Check for reduced but dislocatable hip (Barlow +ve) or dislocated reducible hip (Ortolani +ve)

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28
Q

What is the Galeazzi sign?

A

Assesses for hip dislocation

Flexing an infant’s knees when they are lying down so that the feet touch the surface and the ankles touch the buttocks

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29
Q

Outline the neonatal examination - feet

A

Count toes

Assess foot posture (talipes equino varus)

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30
Q

What is talipes equino varus?

A

Clubfoot
Common foot abnormality in which the foot points downward and inward
Will resolve, PT

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31
Q

What is the most important cause of conjugated hyperbilirubinaemia to diagnose quickly and how can it be identified?

A

Biliary atresia

Pale stools and dark urine

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32
Q

What is biliary atresia?

A

Blockage in the bile ducts that carry bile from the liver to the gallbladder due to abnormal development

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33
Q

What is the most common type of hyperbilirubinaemia and what are its causes?

A

Unconjugated

Physiological, breast milk jaundice, haemolytic disease, infection, hypothyroidism

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34
Q

What is the definition of prolonged jaundice, what is the most common cause and what is the most important cause to identify early?

A

Visible jaundice persisting >14 days in a term infant and >21 days in a preterm infant
Breast feeding
Biliary atresia

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35
Q

How is prolonged jaundice treated?

A

Plot serum bilirubin and age on chart to determine if phototherapy or exchange transfusion are needed

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36
Q

What are the top 5 causes of respiratory distress in neonates?

A
Transient tachypnoea of the newborn 
Respiratory distress syndrome 
Meconium aspiration 
Pneumothorax 
Respiratory infection
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37
Q

Give 5 causes of cyanosis

A
Any cause of respiratory distress 
Persistent pulmonary hypertension of the newborn 
Congenital cyanotic heart disease 
Tracheo-oesophageal fistula 
Diaphragmatic hernia
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38
Q

What are the 2 main risk factors for neonatal sepsis?

A
Prolonged or premature rupture of membranes 
Maternal infection (group B strep)
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39
Q

Give 2 signs/symptoms of gastrointestinal disorders in neonates

A

Poor feeding
Vomiting
Delay in passage of meconium
Abdominal distension

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40
Q

What is bile stained vomit indicative of?

A

Intestinal obstruction until proven otherwise

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41
Q

Give 5 gastrointestinal disorders in neonates

A
Meconium plug/ileus 
Duodenal atresia
Oesophageal atresia
Malrotation with volvulus 
Hirschpring disease
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42
Q

What is exomphalos?

A

Weakness of a baby’s abdominal wall where the umbilical cord joins it which allows the abdominal contents (e.g. bowel and liver) to protrude outside the abdominal cavity where they are contained in a loose sac that surrounds the umbilical cord

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43
Q

What is gastroschisis?

A

A birth defect in which a baby’s intestines extend outside of the abdomen through a hole next to the umbilicus

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44
Q

Give 2 congenital abnormalities of the CNS

A
Neural tube defects
Anencephaly
Encephalocele
Microencephaly
Spina bifida
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45
Q

When does the neural tube usually close?

A

3 weeks post conception

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46
Q

Define anencephaly

A

NTD
Large portion of scalp, skull and cerebral hemispheres do not develop
Usually detected antenatally, always fatal

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47
Q

Define encephalocele

A

NTD
Protrusion of brain and meninges through midline defect in skull
Usually associated with craniofacial abnormalities and/or other cerebral abnormalities

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48
Q

Define microcephaly

A

Small head due to incomplete brain development or arrest of brain growth
Present at birth or can develop over years

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49
Q

Give 2 causes and 2 signs/symptoms of microcephaly

A

Causes - genetic, TORCH infections, maternal substance abuse, perinatal hypoxia
Symptoms - OFC crossing centiles, shallow sloping forehead, developmental delay, seizures, short stature

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50
Q

Name 2 devastating brain malformations

A

Lissencephaly (smooth)
Holoprosencephaly (no hemispheres)
Schizencephaly (clefts)
Porencephaly (cavities)

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51
Q

What is a sacral pit and what is its significance?

A

A, usually benign, dimple or indentation in skin over sacrum
Harmless if base seen or below natal cleft, requires imaging at a later stage if base not visible or above natal cleft as this may indicate spina bifida occulta

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52
Q

What is a cleft lip/palate?

A

Failure of maxillary processes to fuse

Can be unilateral/bilateral

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53
Q

What is the incidence of cleft lip/palate?

A

1 in 1000

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54
Q

When is cleft lip/palate repaired?

A

Lip - 3 months

Palate - 6-12 months

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55
Q

Give 2 complications of cleft palate

A

Feeding problems
Speech problems
Psychological issues
Aspiration pneumonia

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56
Q

What are periauricular pits?

A

Dimple/indentation in skin anterior to tragus

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57
Q

Why might a neonate with periauricular pits need further investigation?

A

Weak association with renal abnormalities

Assessed if other dysmorphisms/maternal diabetes/family history/deafness

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58
Q

What are preauricular tags?

A

Skin tags anterior to tragus

Harmless, cosmetic

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59
Q

What is a tracheo-oesophageal fistula and how does it present?

A

Communication between trachea and oesophagus

Coughing/choking during feeding, abdominal distension, recurrent chest infection

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60
Q

How is a tracheo-oesophageal fistula diagnosed and treated?

A

Bronchoscopy and contrast studies of oesophagus

Surgical correction

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61
Q

What condition is associated with duodenal atresia?

A

Down’s syndrome

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62
Q

What sign on x-ray is indicative of duodenal atresia?

A

Double bubble

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63
Q

Why might surgical repair of exomphalos/gastroschisis need to be done in stages?

A

Abdomen may be too small to hold the bowel

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64
Q

What is hypospadias and when is it repaired?

A

Urethral opening on underside of penis

12-18 months

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65
Q

What advice should be given to parents of a neonate with hypospadias?

A

Do not circumcise - foreskin can be used in repair

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66
Q

Give 2 symptoms of imperforate anus

A

Failure to pass meconium
Bilious vomiting
Abdominal distension

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67
Q

What side is most common for a diaphragmatic hernia in neonates?

A

Left; 90%

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68
Q

How is a diaphragmatic hernia identified?

A

Antenatal US or at birth (scaphoid abdomen, apparent dextrocardia, respiratory distress)

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69
Q

What is pulmonary hypoplasia and when is it a problem in neonates?

A

Incomplete development of the lungs, resulting in decreased number/size of bronchopulmonary segments
Complication of surgical repair of diaphragmatic hernia

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70
Q

What is achondroplasia and what is its aetiology?

A

Disorder of bone growth causing dwarfism

Autosomal dominant/spontaneous FGFR3 gene mutation on chromosome 4

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71
Q

Give 3 signs of achondroplasia at birth

A
Short limbs
Large head
Flat midface
Frontal bossing
Lumbar lordosis
Trident hand
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72
Q

Give 2 complications of achondroplasia

A

Short stature
Talipes equinovarus
Hydrocephalus

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73
Q

Define polydactyly

A

> 5 finger/toes on any limb

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74
Q

Define syndactyly

A

Webbed fingers/toes

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75
Q

What is the incidence of Down’s syndrome?

A

1 in 1000

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76
Q

What genetic mechanisms can be involved in Down’s syndrome?

A

Non-disjunction (>90%)
Translocation (5%)
Mosaicism (1%)

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77
Q

What contributes to assessment of risk of Down’s syndrome on screening?

A

Beta-hCG
PAPP-A
Maternal age
Foetal nuchal translucency

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78
Q

What testing is offered to mothers who have a positive screening for Down’s syndrome and what are the risks of miscarriage of each?

A

Chorionic villus sampling (1.5%) or amniocentesis (1%)

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79
Q

Give 5 facial features of Down’s syndrome

A
Prominent epicanthic folds 
Upwards slanting palpebral fissures 
Brushfield spots (white) on iris 
Protruding tongue
Small mouth 
Small chin 
Flat nose 
Round face 
Small, low set ears
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80
Q

What percentage of children with Down’s syndrome will have congenital heart disease and which conditions are most common?

A

50%
Atrioventricular septal defects
Ventricular septal defect
Tetralogy of Fallot

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81
Q

Give 3 gastrointestinal problems that children with Down’s syndrome are at increased risk of

A
Hirschprung's disease
Duodenal atresia 
Imperforate anus
Umbilical hernia 
GORD
Coeliac disease
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82
Q

Give 4 features of Down’s syndrome on physical examination

A
Generalised hypotonia 
Short neck with excess skin at nape
Brachycephaly 
Single palmar crease
Short hands/fingers 
Sandal toe gap
Poor growth 
Short stature
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83
Q

Give 4 neurological complications of Down’s syndrome

A
Learning difficulties 
Hearing impairment
Strabismus
Cataract
Epilepsy 
Atlanto-axial instability
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84
Q

Why do children with Down’s syndrome often have hearing impairment?

A

Recurrent otitis media

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85
Q

What is strabismus?

A

A condition in which the eyes do not properly align with each other when looking at an object; squint

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86
Q

Give 4 complications of Down’s syndrome

A
AML/ALL
Hypothyroidism 
Recurrent respiratory infection 
Obstructive sleep apnoea 
Alzheimer's disease
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87
Q

What is trisomy 18? Give 4 features

A
Edward's syndrome 
Microcephaly
Small chin 
Low set ears
Overlapping fingers
Rocker bottom feet 
VSD/ASD
PDA
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88
Q

What are rocker bottom feet?

A

Congenital vertical talus

Rare congenital foot deformity in which the sole of a child’s foot flexes abnormally in a convex position

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89
Q

What is trisomy 13? Give 4 features

A
Patau's syndrome 
Holoprosencephaly
Structural eye defects
Polydactyly
Cutis aplasia
Cardiac defect
Renal defects
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90
Q

What is Turner’s syndrome? Give 4 features

A
45XO
Downward turned mouth 
Downward slanting palpebral fissures 
Webbed neck 
Wide spaced nipples
Lymphoedema
Coarctation of the aorta
Streak gonads
Lack of secondary sexual development 
Short stature
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91
Q

What is Klinefelter’s syndrome? Give 4 features

A
XXY
Infertility
Hypogonadism
Micro-orchidism 
Gynaecomastia
Tall stature 
May have moderate learning difficulties
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92
Q

What is fragile X syndrome? Give 4 features

A
FMR1 gene mutation
Long face 
Prominent ears 
Large chin
Learning difficulty 
Macro-orchidism
Connective tissue problems (flat feet, hyperflexibility)
Behavioural characteristics (autistic, hand flapping, ADD)
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93
Q

What are the TORCH infections?

A

Common intrauterine infections

Toxoplasmosis
Other (syphilis)
Rubella
CMV
Herpes simplex virus
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94
Q

What are the signs/symptoms of CMV intrauterine infection?

A
Low birth weight 
Microencephaly 
Cerebral calcification
Hepatosplenomegaly and jaundice
Petechiae
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95
Q

How is intrauterine CMV infection treated?

A

Gancyclovir

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96
Q

What are the risks of CMV intrauterine infection?

A
Hearing loss
Mental retardation
Psychomotor delay
Cerebral palsy
Impaired vision
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97
Q

What are the signs/symptoms of rubella intrauterine infection?

A
Cataracts
Microphthalmos
Sensorineural hearing loss
Thrombocytopenic purpura (blueberry muffin rash)
Pulmonary artery stenosis
PDA
Hepatomegaly
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98
Q

What are the signs/symptoms of toxoplasmosis intrauterine infection?

A
Hydrocephalus/microcephaly 
Chorioretinitis 
Cerebral calcification
Cerebral palsy
Epilepsy
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99
Q

Give 4 features of foetal alcohol syndrome

A
Microcephaly
Facial features - epicanthic folds, low nasal bridge, absent philtrum, thin upper lip, small chin
Cardiac - VSD/ASD
Growth retardation 
Limb abnormalities
Learning difficulties
Behavioural problems
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100
Q

Give 4 drugs which are teratogenic in pregnancy and 1 adverse effect

A

Phenytoin - foetal hydantoin syndrome (cleft palate, craniofacial abnormalities)
Sodium valproate - NTD
Carbamazepine - NTD
Lithium - Ebstein’s anomaly
Warfarin - frontal bossing, nasal hypoplasia
Tetracycline - discolouration of teeth

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101
Q

What is Ebstein’s anomaly?

A

Rare heart defect in which the tricuspid valve is not formed properly

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102
Q

What is Prader-Willi syndrome?

A

A complex genetic condition caused by loss of function of genes on chromosome 15 that affects many parts of the body

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103
Q

Give 4 features of Prader-Willi syndrome

A

Birth - hypotonia, feeding problems, hypogonadism
Later - failure to thrive, scoliosis
Hyperphagia, obesity, developmental delay, learning difficulties
Physical - almond shaped eyes, pale skin, light hair, small hands/feet, hypogonadism

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104
Q

Milestones

Gross motor - 6 weeks

A

Head held steady when pulled to sit
Head held steady when in ventral suspension
Head lifting in prone position

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105
Q

Milestones

Fine motor/vision - 6 weeks

A

Watching/staring

Fixing and following

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106
Q

Milestones

Hearing and speech - 6 weeks

A

Stills to mother’s voice

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107
Q

Milestones

Social - 6 weeks

A

Smiling

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108
Q

Milestones

Gross motor - 6-9 months

A

Pulls self from sitting to standing (6-12m)
Rolls over (6m)
Cruises (9-14m)

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109
Q

Milestones

Fine motor/vision - 6-9 months

A

Palmar grasp (6m)
Forgets fallen objects at 6m and follows at 9m
Transfers objects from one hand to the other (7m)

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110
Q

Milestones

Hearing and speech - 6-9 months

A

“Ma” “da” (6m)

Babbling/polysyllables e.g. “dada” “gaga” (9m)

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111
Q

Milestones

Social - 6-9 months

A

Objects to mouth
Enjoys baths
Stranger aware (9m)

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112
Q

Milestones

Gross motor - 1 year

A

Walking (8-18m)

Rise to sitting position from lying

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113
Q

Milestones

Fine motor/vision - 1 year

A

Casts objects
Pincer grip
Bangs things together

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114
Q

Milestones

Hearing and speech - 1 year

A

1-3 words with meaning

Turns to own name

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115
Q

Milestones

Social - 1 year

A

Comes when called
Co-operates with dressing
Drinks from cup
Waves bye

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116
Q

Milestones

Gross motor - 18 months

A

Throws toy without falling
Climbs stairs holding rail/two feet one step
Unsteady run

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117
Q

Milestones

Fine motor/vision - 18 months

A

Scribbles

Builds tower of 3-4 cubes

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118
Q

Milestones

Hearing and speech - 18 months

A

Points to body parts
Obeys simple instructions
10 words

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119
Q

Milestones

Social - 18 months

A

Lifts and drinks from cup
Spoon feeds self
Takes off shoes/socks/hat

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120
Q

Milestones

Gross motor - 2/2.5 years

A

Runs safely
Kicks ball
Jumps on spot

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121
Q

Milestones

Fine motor/vision - 2/2.5 years

A

Imitates vertical line
Builds tower of 6-8 cubes
Turns book pages one at a time

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122
Q

Milestones

Hearing and speech - 2/2.5 years

A

> 50 words
Phrases of 2-3 words
Gives own name

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123
Q

Milestones

Social - 2/2.5 years

A

Dry by day
No sharing, plays alone
Simple imaginative play

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124
Q

Milestones

Gross motor - 3/3.5 years

A

Stands on one leg momentarily
Climbs stairs normally
Rides tricycle

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125
Q

Milestones

Fine motor/vision - 3/3.5 years

A

Holds pencil properly
Builds tower of 9-10 bricks/bridge
Copies circle

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126
Q

Milestones

Hearing and speech - 3/3.5 years

A

Gives full name and sex
Counts to 10 at least
Understands meaning of under/over/in/out

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127
Q

Milestones

Social - 3/3.5 years

A

Pulls pants up and down alone
Plays with others
Eats with fork and spoon

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128
Q

Milestones

Gross motor - 4/5 years

A

Up and down stairs normally
Hops
Runs on tiptoe

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129
Q

Milestones

Fine motor/vision - 4/5 years

A

Copies squares and crosses (4y), draws triangle and stick man (5y)
Builds tower of >10 blocks
Matches and names 4 colours

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130
Q

Milestones

Hearing and speech - 4/5 years

A

Fluent, clear speech

Counts to 20 or more

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131
Q

Milestones

Social - 4/5 years

A

Brushes teeth
Shows sense of humour
Understands taking turns/sharing
Toilet trained (by 4y)

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132
Q

What is important to note about a delay in development?

A

Global (2 or more areas) or specific (1 area alone)

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133
Q

What is the difference between global developmental delay and intellectual developmental disability?

A

In practice the term “global developmental delay” can be used up to age 5, but should then be replace by “ intellectual developmental disability”

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134
Q

Give 4 antenatal causes of intellectual developmental disability

A

Genetic - chromosomal (Down’s syndrome), specific (fragile X), neurodegenerative (Rett syndrome), metabolic (PKU), familial
Acquired - FAS, drug exposure, rubella, infarct
Unknown - dysmorphic, brain malformation

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135
Q

Give 4 non-antenatal causes of intellectual developmental disability

A

Perinatal - intraventricular haemorrhage, hypoxic ischaemia, encephalopathy
Postnatal - NAI, RTA, cranial radiotherapy
Unknown - psychiatric (autism), neurological (epilepsy, cerebral palsy)

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136
Q

What is regression and what is its significance?

A

Loss of skills already acquired

Red flag - needs investigation/referral to paediatric neurologist

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137
Q

Give 3 causes of gross motor delay (e.g. delayed walking)

A

Cerebral palsy
DMD
Antenatal stroke
Part of global developmental delay (DS)

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138
Q

When should a child who is not walking be referred to a paediatrician?

A

18 months

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139
Q

Give 3 causes of speech delay

A
Familial
Hearing impairment
Poor social interaction/social deprivation 
ASD
DMD
Part of global developmental delay (DS)
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140
Q

What 2 initial things should be done in speech delay?

A

SALT referral

Hearing test

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141
Q

When should solids be introduced to a baby’s diet?

A

6 months

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142
Q

When should cow’s milk be introduced to a baby’s diet?

A

1 year

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143
Q

What is the risk if children exclusively drink milk after 6 months?

A

IDA

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144
Q

Give 2 pointers for managing fussy eaters

A

Encourage balanced varied diet
Disguise veg
Take diet history of a typical day
Need full fat milk and egg yolk

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145
Q

Outline typical sleeping requirements for newborns, 1 year olds and 2 year olds

A

Newborn - 16 hours
1 year old - 14 hours
2 year old - 12 hours

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146
Q

How are sleep problems in young children managed?

A

Do not stimulate if waking at night
Ensure quiet/safe environment
Wind down routine before bed
Severe may need referral and/or melatonin

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147
Q

How are behaviour problems in young children managed?

A

Listen to and reassure parents
Ask about any upheaval/bullying
Discourage negative language about the child
Consistent approach and routine

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148
Q

How should bruising in a very young child be managed?

A

A child who doesn’t walk should not be bruised - child protection issue
Accidental bruising occurs on bony prominences, NAI on soft areas

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149
Q

Give 3 common problems of growth and puberty in children

A
Short/tall stature 
Weight faltering/obesity 
Sexual precocity 
Delayed puberty 
Endocrine disorders
Disorders of HPA
Metabolic disorders
Disorders of sexual development 
Calcium/vit D/phosphate disorders
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150
Q

What are the normal phases of growth and puberty?

A

Infantile phase - conception to 2 years
Childhood phase - 2 years until adolescent growth spurt
Pubertal phase - from adolescent growth spurt until final height

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151
Q

Describe the involvement of growth hormone and thyroxine in the infantile and childhood phases

A

Infantile - GH and thyroxine independent

Childhood - GH and thyroxine dependent

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152
Q

What is the role of oestrogen in early growth?

A

Stimulates GH and fused epiphyses in both sexes

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153
Q

What marks puberty in girls and boys?

A

Girls - breast development at 11 years

Boys - testicular enlargement at 11.5 years

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154
Q

When does menarche occur in girls?

A

13.5 years

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155
Q

When does the adolescent growth spurt reach its peak in boys and girls?

A

Boys - 14 years

Girls - 12 years

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156
Q

How do you calculate mid-parental height and target range for boys?

A

Plot father’s height
Plot mother’s height after adding 12.5cm correction factor
Mid-parental = average of father and corrected mother
Target = mid-parental +/- 8.5cm

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157
Q

How do you calculate mid-parental height and target range for girls?

A

Plot mother’s height
Plot father’s height after subtracting 12.5cm correction factor
Mid-parental = average of mother and corrected father
Target = mid-parental +/- 8.5cm

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158
Q

How is short/tall stature defined?

A

Short - >2 SD below mean (below 2.5th/2nd/3rd centile)

Tall - >2 SD above mean (97th/98th)

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159
Q

Define precocious puberty

A

Puberty beginning <8 years in girls and <9 years in boys

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160
Q

Define early/advanced puberty

A

Puberty beginning 8-10 years in girls and 9-11 years in boys

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161
Q

Give 4 causes of short stature

A
NIDSCED
Normal genetic
Constitutional delay in growth/adolescence
Intrauterine growth retardation 
Dysmorphic syndromes
Skeletal dysplasia
Chronic systemic disease 
Endocrine disorders
Dire social circumstances
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162
Q

What is weight faltering AKA and what are the 2 types?

A

Failure to thrive

Organic (e.g. malabsorption, cardiac/renal/respiratory) and non-organic (more common)

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163
Q

In absence of other clinical features, what does growth failure in a child indicate?

A

Growth hormone deficiency

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164
Q

What investigation should be done in a child with precocious puberty?

A

MRI

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165
Q

Give 3 typical features of a child with delayed puberty

A
Male 
Short
Young for age
Parents not short
Bone age delayed
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166
Q

Give 2 features of GH deficiency

A

Rare
Isolated/with other deficiencies
Congenital/acquired

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167
Q

What is a craniopharyngioma?

A

Rare pituitary gland tumour which can cause GH deficiency

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168
Q

How is GH deficiency treated?

A

GH subcutaneous injection every night until final height is reached; may continue into adulthood

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169
Q

Give a cause of primary ovarian failure

A

Turner’s syndrome

Total body irradiation

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170
Q

Give 1 congenital and 1 acquired cause of primary hypothyroidism

A

Congenital - thyroid dysgenesis

Acquired - Hashimoto’s

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171
Q

What is the most common cause of polyuria and polydipsia in preschool children and how can it be managed?

A

Habit drinking

Banning flavoured drinks

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172
Q

Give 4 advantages of breastfeeding for the baby

A
Reduced mortality and morbidity
Reduced infection 
Reduced SIDS
Promotes gut development
Improved cognitive ability
Reduced autoimmune and cardiovascular disease
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173
Q

By what mechanism do babies draw milk from the breast?

A

Compression (not sucking)

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174
Q

Give 2 advantages of breastfeeding for the mother

A

Reduced breast and ovarian cancer
Reduced diabetes
Reduced postnatal depression

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175
Q

What are the 2 main types of infant formula milk? Give examples

A

Whey (60:40) - closer to breast milk; SMA/Aptamil/Cow & Gate First
Casein (80:20) - closer to cow milk; Aptamil Hungry, SMA Extra Hungry, Cow & Gate Infant Milk for Hungrier Babies

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176
Q

When might specialised infant formula be used?

A

Non-breast fed infant with medical condition (e.g. intolerance/allergy, preterm/weight faltering, enteropathy)

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177
Q

What foods should be avoided before 6 months?

A

Wheat/gluten rich (e.g. bread)
Eggs, fish, liver, shellfish
Nuts, peanuts, seeds
Cow milk, soft/unpasteurised cheese

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178
Q

What foods should be avoided before 1 year?

A

Honey

May be useful to avoid allergenic food - ongoing research

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179
Q

What vitamin supplements should be given to babies and when?

A

Health Start vitamins from 6 months to 4 years (unless drinking >500ml of formula)

180
Q

What is considered as weight faltering/failure to thrive?

A

Abnormally large drop in weight centile
Low BMI
Slow height growth

181
Q

Give 3 reasons why infants are more vulnerable to malnutrition

A
High growth rates
Low stores
Small size
Higher levels of activity
Higher morbidity
Dependence on others for food
182
Q

How is BMI calculated in children?

A

Same as adults but BMI chart needed to interpret

183
Q

Give 3 reasons why a child may become overweight

A
Excess intake relative to expenditure
Organic causes exceptionally rare
Strong familial tendency
Gene environment interaction
Single gene defects rare, but polymorphisms common
184
Q

Define developmental impairment

A

A condition of arrested or incomplete development of the mind, which is especially characterised by impairment of skills which contribute to the overall level of intelligence (e.g. cognitive, language, motor and social abilities)

185
Q

Give 3 causes of developmental impairment

A

Prenatal - Down’s syndrome, Rett syndrome, PKU, tuberous sclerosis, FAS, rubella, brain malformation
Perinatal - intra-ventricular haemorrhage, ischaemic encephalopathy
Postnatal - radiotherapy, brain injury

186
Q

Give 6 red flags for development that require assessment by neurology/other senior specialising in development

A
Regression 
Concerns about vision
Hearing loss
No speech by 18 months 
Suspected cerebral palsy 
Complex disabilities
Head circumference >99.6th or <0.4th or crossed 2 centiles or disproportionate to parents 
Persisting immature patterns of behaviour
Uncertainty
187
Q

What milestone delays should be referred for assessment?

A

Cannot sit unsupported at 12 months
Cannot walk by 18 months (boys) or 2 years (girls)
Can only walk on tip toes
Cannot run by 2.5 years
Does not hold objects by 5 months
Does not reach for objects by 6 months
Does not point at objects of interest by 2 years

188
Q

What is the role of child development centres?

A

See 0-19 year olds where there are concerns about development
Based in the local community
Aim for early intervention

189
Q

Give 3 professionals who might be involved in a child’s health team in the community

A
Community paediatrician 
PT
OT
Health visitor
SLT
CAMHS
Specialist nurse
190
Q

What 3 domains are affected in ASD?

A

Social interaction
Social communication
Repetitive/ritualised behaviour

191
Q

Give 4 symptoms of ASD

A

Poor eye contact
No interest in/difficulty with interacting
Speech unusual/delayed
Restricted behaviours
Follows own agenda
Wants things done in a particular way and has anxiety/tantrum if not
Severe dietary deficiencies

192
Q

Define cerebral palsy

A

Umbrella term for children who have a central (brain) motor deficit which is non-progressive and has been caused in early life

193
Q

Give 3 features suggestive of cerebral palsy

A
Premature 
Stormy neonatal course 
Developmental delay (motor)
Preference for one hand (weakness)
Feeding difficulties 
Impaired communication
Problems with pain and sleep 
Seizures
194
Q

What feeding problems can be encountered in children with cerebral palsy?

A

Lack of oro-motor skill development
Reflux and aspiration pneumonia
Poor weight gain
Malnutrition

195
Q

What motor impairment problems can be encountered in children with cerebral palsy?

A

Spasticity
Dyskinesia
Posture problems
Hip dislocation

196
Q

What is CPIPs?

A

Cerebral palsy in paediatrics surveillance - regular PT and ortho input; assessment and hip x-rays

197
Q

What is nocturnal enuresis?

A

Bedwetting - involuntary wetting during sleep at least twice a week in children older than 5 years of age

198
Q

What are the 2 types of nocturnal enuresis?

A

Primary - never achieved continence (+/- daytime symptoms)

Secondary - previously dry for >6 months

199
Q

Give 2 causes of primary bedwetting without daytime symptoms

A

Lack of sleep arousal
Polyuria
Small capacity/overactive bladder

200
Q

Give 2 causes of primary bedwetting with daytime symptoms

A

Overactive bladder
Structural abnormalities (e.g. ectopic ureter)
Neurological disorders (e.g. neurogenic bladder)
Chronic constipation
UTI

201
Q

Give 2 causes of secondary bedwetting

A
Diabetes
UTI
Constipation
Inadequate fluid intake
Psychological
Family problems 
Environment
202
Q

How is bedwetting managed?

A
Investigate cause 
Explain and don't blame 
Advise on fluid intake
Use rewards 
Consider alarm
Consider desmopressin
203
Q

What should be asked in the history of a child with constipation?

A
Frequency (<4/week)
Bristol stool chart (3/4)
Associated straining/bleeding/soiling 
Previous constipation/anal fissure 
Exclude - symptoms from birth, time meconium passed, ribbon stools, growth, leg weakness, abdominal distention with vomiting
204
Q

What should be included in examination of a child with constipation?

A

Faecal masses in abdomen
Anal fissure
Rectal exam (should only be done by surgical team if warranted)
Spine/muscle/reflexes

205
Q

How is constipation in a child managed?

A

Surgery - meconium ileus, Hirschprung’s
Test for coeliac disease - faltering growth, abdominal distension
Reassure and encourage good bowel habit (diet and fluid intake) - no underlying cause
Movicol disimpaction regime - impaction

206
Q

What checks and immunisations are given at birth?

A

Baby checks, hearing (auditory brainstem response)

BCG (and hepatitis for high risk)

207
Q

What checks are done at 5 days?

A

Blood spot/heel prick/Guthrie test

208
Q

When is the first midwife appointment after birth?

A

10-14 days

209
Q

What immunisations are given at 8 weeks?

A

DTaP/IPV/Hib
PCV
Rotavirus

210
Q

What immunisations are given at 3 months?

A

DTaP/IPV/Hib
MenC
Rotavirus

211
Q

What immunisations are given at 4 months?

A

DTaP/IPV/Hib

PCV

212
Q

What immunisations are given at 12 months?

A

Hib

MenC

213
Q

What immunisations are given at 13 months?

A

MMR

PCV

214
Q

What immunisations are given at 2 years?

A

Influenza

215
Q

What immunisations are given at 3.5 years?

A

DTaP/IPV

MMR

216
Q

What 5 core conditions are tested for in the neonatal blood spot test?

A
PKU
Congenital hypothyroidism
CF
Sickle cell disease 
MCADD (medium chain acyl-CoA dehydrogenase deficiency)
217
Q

What 4 rare metabolic disorders are also tested for in the neonatal blood spot test?

A

Homocysteinuria
Maple syrup urine disease
Glutaric aciduria type 1
Isovaleric aciduria

218
Q

What differential diagnosis headings should be used in an MSK consultation?

A

T - tumour, trauma
I - infection, inflammation
M - mechanical, muscular, metabolic

219
Q

Describe the morphology and growth of long bones in children

A

Diaphysis (shaft) with metaphysis on either end, followed by the physis (growth plate) and then the epiphysis
Cartilaginous epiphysis gradually ossifies until it fuses with the metaphysis

220
Q

How can bone age be estimated?

A

Using radiological features on wrist x-ray due to sequence of ossification of hand and wrist bones

221
Q

Define enthesis

A

Point of insertion of a tendon/ligament/fascia/joint capsule onto bone; prone to mechanical, growth related and inflammatory stresses

222
Q

What is Gower’s sign and what does it suggest?

A

Using hands to splint legs when rising from sitting

Muscle weakness; classically DMD

223
Q

Give 5 red flag history features of leg pain

A
Nocturnal 
Unable to sleep due to unremitting pain 
Deep boring pain unresponsive to simple pain relief 
Loss of/altered function 
Unilateral and focused
Persists during the day 
Persists every night 
Age - adolescents (bone tumours), any age (leukaemia), pre-school (neuroblastoma)
224
Q

Give 3 red flag examination features of leg pain

A
Area of tenderness
Mass 
Metaphyseal tenderness (marrow infiltration)
Postural shift to minimise pain 
Neurological features 
Weight loss, fever, bruising, anaemia
225
Q

Give 3 red flag investigation features of leg pain

A

Bone tumour - x-ray changes
ALL - signs of marrow failure and infiltration on FBC/film
Neuroblastoma - marrow infiltration, metastatic tumour on imaging, urinary VMAs and HVAs

226
Q

Give 4 history features of benign leg pain

A
Wakes suddenly from sleep with cramp
Resolves quickly with massage/pain relief 
Normal function 
Often bilateral or moves site 
May be exercise induced
227
Q

What are the top 3 organisms causing septic arthritis?

A

Staphylococcus aureus
Streptococcus pneumoniae
Haemophilus influenza

228
Q

Give 4 signs/symptoms of a child with septic arthritis

A

Joint - extremely painful, hot, swollen, red, pseudoparalysis
Fever
Headache
Other focus of infection - septicaemia, pharyngitis, meningitis, cellulitis

229
Q

What age group needs to be carefully evaluated for septic arthritis and why?

A

Neonates - only physical sign may be irritability and pseudoparalysis

230
Q

Give 3 differentiating factors between septic arthritis and transient synovitis/reactive arthritis

A

Pyrexia >38.5 in the last week
Inability to weight bear
ESR > 40
WBC > 12

231
Q

How is septic arthritis managed?

A
A-E assessment and resuscitation if unwell
Urgent aspiration (GA) with microscopy, gram stain, culture and sensitivity
Blood cultures (2 minimum)
High dose IV antibiotics
232
Q

In what 2 ways does osteomyelitis present?

A

Classic - acutely unwell child, pyrexia, local erythema and tenderness
Subacute - recent varicella zoster infection, point tenderness at metaphyses, night pain, limp

233
Q

How is osteomyelitis managed?

A
Blood cultures 
Bone aspiration (abscess) 
High dose IV antibiotics 
Splintage
234
Q

Is an x-ray useful in diagnosing osteomyelitis and why?

A

No

Changes occur late so a normal x-ray does not exclude disease

235
Q

What can cause a more insidious onset of septic arthritis/osteitis and how is this diagnosed?

A

TB

PCR quicker than cultures (6 weeks)

236
Q

What is the most common cause of joint swelling in children?

A

Reactive arthritis

237
Q

What causes reactive arthritis and how is it managed?

A

Viral/bacterial infection

Short lived, self-limiting

238
Q

What are the differential diagnoses for reactive arthritis?

A

Rheumatic fever
HLA B27 associated reactive syndrome
Transient synovitis of the hip
Discitis

239
Q

Rheumatic fever - cause, signs/symptoms, important labs and management

A

Cause - streptococcal infection
Signs/symptoms - carditis, arthritis, neurological features (Syndeham’s chorea), rash (erythema marginatum)
Labs - raised ESR/ASO titre/DNase B
Management - penicillin (and life-long penicillin prophylaxis)

240
Q

HLA B27 associated reactive syndrome - cause, signs/symptoms and management

A

Cause - post-enteric/genitourinary infection (shigella, e.coli, salmonella, STI)
Signs/symptoms - urethritis, conjunctivitis, plantar fasciitis
Management - self-limiting

241
Q

Transient synovitis of the hip - cause, signs/symptoms, important investigations and management

A

Cause - idiopathic, preceded by infection
Signs/symptoms - hip pain, limp, flexed and externally rotated hip, referred knee pain
Investigation - USS, mildly raised WCC/ESR
Management - analgesia, resolved in 1 week

242
Q

Transient synovitis of the hip - cause, signs/symptoms, important investigations and management

A

Cause - unknown
Signs/symptoms - refusing to walk, low grade fever, localised lumbar tenderness
Investigation - MRI
Management - self-limiting

243
Q

What is juvenile idiopathic arthritis?

A

Group of conditions all including childhood onset of chronic inflammatory arthritis of unknown aetiology

244
Q

Give 3 features of juvenile idiopathic arthritis

A

Persistent joint swelling
Inflammatory features - early morning stiffness, warmth
Asymptomatic chronic anterior uveitis (1/3)

245
Q

Name 2 vasculitis conditions which are more common in children than adults

A

Henoch-Schonlein purpura

Kawasaki disease

246
Q

Give 4 early features of Kawasaki disease

A
High and persistent fever >39.5 for 5 days
Rash
Red palms, soles and perineum
Miserable (reflecting aseptic meningeal irritation)
Mucositis
Non-purulent conjunctivitis
Arthritis
High platelet count
Lymphadenopathy
High acute phase response
247
Q

Give 2 late features of Kawasaki disease

A
Coronary artery aneurysms
Peeling skin
Cardiac ischaemia
Myocardial infarction 
Claudication (other aneurysms)
248
Q

How is Kawasaki disease treated?

A

IVIG

249
Q

Give 2 malignancies of childhood which cause an MSK presentation

A

Leukaemia - ALL, AML
Neuroblastoma
Primary bone - Ewing’s sarcoma, osteosarcoma

250
Q

What classification system is used for fractures near/involving the growth plate?

A

Salter-Harris classification

251
Q

What type of physeal fractures need referral to orthopaedics and why?

A

Salter-Harris type III and IV

Intra-articular - high risk of growth disturbance, need surgery

252
Q

Give 2 fracture types which occur in children but not adults

A

Buckle fracture
Plastic deformation
Greenstick fracture

253
Q

How is fracture healing time estimated?

A

‘Age in years + 1’ weeks

Physeal fractures heal in 2-3 weeks

254
Q

How should you ensure non-accidental injury is not missed?

A

Consider in every child
Take accurate history
Examine child by undressing fully
Inform a senior about any concerns
Refer concerns of sexual abuse urgently to child protection
Ensure child is safe before leaving them
Consider other children in the family

255
Q

What is Legg-Calve-Perthes disease?

A

Necrosis of part of the femoral capital epiphysis, a growth disturbance in the physeal and articular cartilage which can lead to deformity of the femoral head and degenerative joint disease

256
Q

Who most commonly gets Perthes disease? How does it present?

A

4-8 year old boys

Groin/knee pain, limp, reduced hip abduction and internal rotation

257
Q

Give 3 things associated with SUFE

A
Early adolescence
Obesity
Hypothyroidism
Chronic renal failure 
Previous radiotherapy 
Growth hormone therapy
258
Q

How does SUFE present?

A

Insidious onset hip pain referred to knee
Limp
Externally rotated and shortened leg

259
Q

How is SUFE diagnosed and managed?

A

X-ray - frog leg position

Surgery - pinning

260
Q

What is a slipped upper femoral epiphysis?

A

The head of the femur slips off posteriorly for reasons that are not known

261
Q

What is DDH?

A

Neonatal hip instability
Acetabular dysplasia with or without subluxation
Frank dislocation of the hip joint

262
Q

What are the main risk factors for DDH?

A

First degree relative family history
Female
Breech after 35 weeks
Foot deformity

263
Q

What signs are indicative of DDH on newborn hip examination?

A
Presence of risk factors 
Asymmetrical groin skin creases
Leg length discrepancy 
Reduced hip abduction
Barlow (dislocatable) or Ortolani (relocatable) positive
264
Q

How is DDH managed?

A

Baby - splint in abduction using Pavlik harness
Older child - cast (closed reduction) or surgery
>3 years old - open reduction and osteotomy

265
Q

What is talipes equinovarus?

A

Clubfoot - deformity of the ankle (tal) and foot (pes) which results in the heel pointing downwards (equinus) and inwards (varus) and the sole pointing medially

266
Q

What are the 2 types of clubfoot and how are they treated?

A

Fixed - Ponseti technique (plaster casts changes weekly, cutting of Achilles, abduction foot orthosis), surgery
Positional - stretching

267
Q

What is the most common deformity of the spine in childhood?

A

Scoliosis

268
Q

Give 2 causes of scoliosis

A

Leg length discrepancy
DMD
Cerebral palsy
Idiopathic

269
Q

Give 5 red flag features for back pain

A
<4 years old 
Night pain 
Functional disability 
Postural shift
>4 week duration
Limitation of movement 
Neurological signs
270
Q

How is a normal variant diagnosed?

A

5 S’s - if a child presents with a symmetrical deformity, with no symptoms, underlying systemic illness or skeletal dysplasia and there is no stiffness on examination then it is likely that they have a normal variant

271
Q

Give 2 examples of normal variants

A
In-toeing
Out-toeing
Knock knees
Bow legs
Flat feet
Curly toes
272
Q

What is Osgood-Schlatter’s syndrome?

A

Common overuse syndrome typically occurring in boys aged 11/12 who are physically active

273
Q

What are the signs/symptoms of Osgood-Schlatter syndrome?

A

Pain over tibial tuberosity at insertion of patellar ligament
Swelling
Tenderness

274
Q

What signs/symptoms are indicative of anterior knee pain and how is it managed?

A

Pain at front of knee, may radiate to back, aggravated by squatting/climbing stairs/flexing knee, tenderness over patella
Activity modification to avoid precipitating factors, quadriceps strengthening exercise

275
Q

What are the 4 MSK components of baby checks?

A
Erb's palsy 
Supernumerary digits 
Foot deformities 
Hip examination for DDH
Congenital muscular torticollis
276
Q

Give 3 causes of Rickets

A
Vitamin D deficiency 
Calcium deficiency 
Hypophosphataemia
Vitamin D dependent 
Hypophosphatasia
277
Q

What signs/symptoms are indicative of a pulled elbow and how is it managed?

A

Crying toddler, refusal to move elbow

Reduction via supination and pronation of the forearm with elbow flexed

278
Q

What signs/symptoms are indicative of a pulled elbow and how is it managed?

A

Crying toddler, refusal to move elbow

Reduction via supination and pronation of the forearm with elbow flexed

279
Q

What is cerebral palsy?

A

A dynamic/changing disorder of posture and movement caused by a non-progressive lesion to the developing brain

280
Q

Give 3 causes of cerebral palsy

A

Antenatal – toxins, teratogens, infection
Perinatal – hypoxic insult, sepsis
Postnatal – meningitis, trauma

281
Q

Define spastic, dystonic, dyskinetic and ataxic

A

Spastic – increased tone
Dystonic – muscle spasm
Dyskinetic – increased activity
Ataxic – impaired co-ordination

282
Q

Define tetraplegic, hemiplegic and diplegic

A

Tetraplegic – all 4 limbs; lesion to both hemispheres (e.g. global hypoxic ischaemic injury)
Hemiplegic – 1 side of the body; lesion to one hemisphere (e.g. antenatal stroke)
Diplegic – lower limbs; lesion of white matter at back of brain (e.g. periventricular leukomalacia in prematurity)

283
Q

Define plegia, paresis and dystonia

A

Plegia – paralysis
Paresis – weakness
Dystonia – muscle spasm not dependent on stretch

284
Q

Give 3 co-morbidities in cerebral palsy

A
Epilepsy
Learning disability 
Behaviour problems 
Feeding problems/GORD
Osteoporosis
285
Q

How is cerebral palsy managed?

A

Define cause
Support
MDT – paediatrician, PT, OT, SLT, dietician, nurse specialist
Manage co-morbidities
Prevent deformity – PT, botulinum toxin, surgery

286
Q

How much folic acid is advised in pregnancy?

A

400 micrograms/day 1 month prior to conception onwards

287
Q

What are the signs/symptoms of spina bifida?

A

Flaccid weakness of lower limbs
Absent reflexes
Lack of sensation
Difficulty walking – varied level

288
Q

What is a myelomeningocele?

A

Outpouching of the spinal cord and its coverings through a defect in the posterior aspect of the vertebral arches

289
Q

What problems are associated with a myelomeningocele?

A
Mobility 
Sensation
Bladder and bowel function 
Hydrocephalus
Learning difficulties
290
Q

What is a Chiari malformation?

A

Structural defect in the cerebellum, characterized by a downward displacement of one or both cerebellar tonsils through the foramen magnum

291
Q

What is cerebral perfusion pressure?

A

MAP-ICP

292
Q

What are the clinical signs of raised ICP in an infant/child?

A
Inconsolable crying 
Irritability 
Vomiting 
Headache 
Tense fontanelles
Lethargy
Visual disturbance 
Fluctuating level of consciousness 
Abnormal pupils
Seizure 
Motor disturbance
293
Q

How is raised ICP managed?

A
A-E assessment 
Tilt patient head up 
Consider mannitol 
Treat underlying cause 
CT scan when stable 
Surgical decompression
294
Q

What is the difference between DMD and Becker muscular dystrophy?

A

Both mutations in X linked dystrophin gene

In Becker, there is weakness but a significant amount of dystrophin is preserved

295
Q

Give 2 signs/symptoms of muscular dystrophy

A
Muscle weakness
Positive Gowers sign 
Lumbar lordosis 
Calf muscle hypertrophy 
Learning problems in some
296
Q

What investigations are done in suspected DMD?

A
Creatine kinase (raised)
DNA testing for mutation
297
Q

What is an epileptic seizure?

A

An epileptic seizure is a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain

298
Q

Define epilepsy

A

Epilepsy is a disease of the brain defined by any of the following conditions:
1. At least two unprovoked seizures occurring more than 24 hours apart
2. One unprovoked seizure and a probability of further seizures similar to the
general recurrence risk after two unprovoked seizures (approximately 75% or more)
3. At least two seizures in a setting of reflex epilepsy

299
Q

When can a diagnosis of epilepsy no longer be applicable?

A

If it was an age-dependent epilepsy syndrome and the child has now passed the applicable age
If the patient has been seizure free for at least 10 years off medications

300
Q

Give 4 things you’d want to ask about in the history of someone who has suspected epilepsy

A
Witness history 
Where 
When 
What was the patient doing 
First signs 
Detailed description 
Aftermath 
Timing 
Video available?
301
Q

What are the differential diagnoses for an epileptic seizure?

A
Syncopes and anoxic seizures (faints and abnormal movements associated with faints)
Psychological/behavioural disorders
Derangements of the sleep process
Paroxysmal movement disorders
Migraine equivalents
Miscellaneous neurological events
302
Q

How are childhood epilepsy syndromes diagnosed?

A

Based on age at onset, seizure type(s), neurological findings, aetiology, EEG features

303
Q

What is positional plagiocephaly?

A

Condition in which specific areas of an infant’s head develop an abnormally flattened shape and appearance

304
Q

How can positional plagiocephaly be prevented/improved?

A

Encourage playing on stomach
Position toys/people/objects of interest on less preferred side
Limit time in bouncer/car seat

305
Q

At what age can children experience a febrile convulsion?

A

6 months - 5 years

306
Q

What is the relationship between febrile seizures and epilepsy?

A

3% will progress to epilepsy

307
Q

Give 3 signs of respiratory distress

A

Recession - sternal/subcostal/intercostal
Nasal flare
Head bobbing
Tracheal tug

308
Q

What is Harrison’s sulcus?

A

Bilateral depression on the side of the chest wall along the costal margins where the diaphragm inserts - sign of chronic asthma

309
Q

How should a respiratory examination be ended?

A

Palpate liver edge
Plot child’s height and weight on growth chart
Offer to do an ENT exam and check cervical lymph nodes
Offer to measure PEFR in >5 year olds

310
Q

Give 4 differentials for an acute cough

A
Upper respiratory tract infection 
Croup
Bronchiolitis
Pneumonia 
Acute exacerbation of asthma
Viral induced wheeze
Pertussis 
Inhaled foreign body
311
Q

Give 2 differentials for a chronic cough

A

Asthma
Infection
GORD
Chronic illness (CF, Kartagener syndrome)
Extrinsic compression of trachea/bronchus by enlarged heart/glands/tumour

312
Q

Give 2 differentials for acute stridor

A
Croup (acute laryngotracheobronchitis)
Acute epiglottitis
Bacterial tracheitis
Inhaled foreign body
Retropharyngeal abscess
Acute angioneurotic oedema
Vascular rings
313
Q

Stridor - age, onset, respiration, cough, drooling, appearance, hypoxia

A
Age - 2-7 years
Onset - hours
Respiration - laboured
Cough - mild
Drooling - yes
Appearance - pale 
Hypoxia - frequent
314
Q

Croup - age, onset, respiration, cough, drooling, appearance, hypoxia

A
Age - 1-3 years
Onset - 1-2 days
Respiration - increased
Cough - moderate
Drooling - no
Appearance - anxious
Hypoxia - unusual
315
Q

Foreign body - age, onset, respiration, cough, drooling, appearance, hypoxia

A
Age - >6 months
Onset - sudden
Respiration - variable
Cough - severe
Drooling - no
Appearance - normal 
Hypoxia - variable
316
Q

What are the cause, symptoms and treatment for croup?

A
Parainfluenza
Hoarse voice, barking cough, stridor 
Oral dexamethasone (and nebulised adrenaline if severe), do not upset the child
317
Q

Give 2 bacterial and 2 viral causes of pneumonia

A

Bacterial - S.pneumoniae, mycoplasma (5-14 years), group B strep (neonates)
Viral - RSV, influenza, parainfluenza

318
Q

What is bronchiolitis?

A

Acute lower RTI with inflammation of small airways affecting infants

319
Q

What causes bronchiolitis?

A

RSV (50-90%)
Parainfluenza
Influenza A
Rhinovirus

320
Q

What are the clinical features and course of bronchiolitis?

A

Cough, dyspnoea, hyperinflation, recession, fine crepitations, wheeze
5 day incubation, 1-3 days of coryza, lower RTI symptoms between day 3-5, total 7-21 days

321
Q

How is bronchiolitis managed?

A

Oxygen if hypoxic

NG feeds/IV fluids if poor feeding

322
Q

Give 3 pathophysiological features of asthma

A
Triggered (cold weather, exercise, stress, virus)
Bronchial hyper-responsiveness
Smooth muscle constriction 
Thickening/oedema of bronchial wall 
Mucus hypersecretion
323
Q

Give 6 important features of the history to illicit in asthma

A

Wheeze, cough, nocturnal cough, triggers, SOB, chest tightness
Age of onset
Severity - number of admissions, steroids
Current medication
Family/personal history of atopy
Days off school
Damp in house

324
Q

What are the 5 steps of asthma treatments from the BTS?

A

1 - mild intermittent; SABA
2 - add regular inhaled steroid preventer BD
3 - add LABA (> 5 year olds), increase inhaled steroids
4 - consider leukotriene receptor antagonist
5 - continuous/frequent use of oral steroids

325
Q

What inhalers and devices are there?

A

Inhaler - pressurised metered dose inhaler

Devices - spacers, dry powder (>8 years old)

326
Q

Describe the genetics of cystic fibrosis

A

Autosomal recessive disorder
1 in 25 Caucasian people carry the gene
Mutation in CFTR gene (commonly Delta F508) on chromosome 7 which causes abnormal CFTR protein

327
Q

What is CF?

A

Multisystem disorder of exocrine gland function involving multiple organ systems including lungs, pancreas, sinuses and reproductive tract, resulting in chronic respiratory infections and pancreatic enzyme insufficiency

328
Q

What is the role of normal CFTR?

A

Allows chloride ions out of a mucosal cell and into the lumen; defect causes thickened secretions

329
Q

What does CFTR stand for?

A

Cystic fibrosis transmembrane conductance regulator

330
Q

What is the principal cause of death in CF?

A

Lung disease - haemophilus influenzae, staphylococcus aureus

331
Q

What effect does CF have on fertility?

A

98% males infertile due to congenital bilateral absence of vas deferens
Reduced fertility in females due to abnormal cervical mucus

332
Q

What ENT features are associated with CF?

A

Nasal polyps

Sinusitis

333
Q

What respiratory features are associated with CF?

A
Cough 
Purulent sputum
Pneumonia
Bronchiectasis
Chest deformity
Respiratory failure
334
Q

What features of poor growth are associated with CF?

A

Increased metabolic demand
Poor weight gain and FTF
Short stature

335
Q

What GI features are associated with CF?

A
Pancreatic insufficiency
Distal intestinal obstruction syndrome
Meconium ileus at birth (15%)
Biliary stasis and liver cirrhosis 
Poor fat absorption causing deficiency in fat soluble vitamins (ADEK)
Steatorrhoea 
Rectal prolapse
336
Q

What endocrine feature is associated with CF?

A

Diabetes

337
Q

How is CF diagnosed?

A

Neonatal screening - immunoreactive trypsin (IRT) levels on blood spot
If positive, sent for genetic testing

338
Q

How does CF normally present in neonates?

A

Meconium ileus
Failure to thrive
Recurrent chest infection
Malabsorption

339
Q

How is CF managed?

A
Daily PT
Daily antibiotics (flucloxacillin prophylaxis)
Creon 
Fat soluble vitamin supplements 
High calorie diet
340
Q

How is an exacerbation of CF treated?

A

Double dose of prophylactic antibiotics
Planned 2nd line antibiotics
May require admission for IV (portacath may be useful)

341
Q

On cardiovascular examination, what does absence, weakness or delay of femoral pulse compared with right radial or brachial pulse suggest?

A

Coarctation of the aorta

342
Q

On cardiovascular examination, what does collapsing pulse suggest?

A

Patent ductus arteriosus

343
Q

What are the 2 types of heave which may be felt during cardiovascular examination of an infant?

A

Parasternal

Subxiphoid

344
Q

What are the 2 types of thrill which may be felt during cardiovascular examination of an infant?

A

Precordial

Suprasternal

345
Q

What does a suprasternal thrill suggest?

A

Aortic stenosis

346
Q

On cardiovascular examination, why is the liver palpated?

A

Enlarged in heart failure

Percussed to ensure downward displacement is not due to lung hyper-expansion

347
Q

Why is it useful to auscultate between scapulae in a CV exam?

A

Listen for coarctation

348
Q

What heart sounds may be heard on CV exam?

A

1st - may be normally split
2nd - normally split (wider on inspiration)
3rd - normal in some
4th - always abnormal

349
Q

How should murmurs be assessed/recorded?

A

Loudness - grade 1- 6; presence of a thrill = graded >4
Timing - systolic, diastolic or continuous
Duration - ejection, mid or pansystolic
Site - loudest point
Radiation (e.g. back in coarctation)

350
Q

How is a blood pressure cuff measured?

A

Cuff size two-thirds the length of the outer aspect of the upper arm or thigh

351
Q

Give 4 features of an innocent murmur

A
Asymptomatic
No thrill/heave
Soft systolic murmur
Varies with position
Localised to one area
352
Q

Name 4 acyanotic congenital heart lesions

A
VSD
Pulmonary stenosis 
ASD
Coarctation of the aorta
PDA
353
Q

Name 3 cyanotic congenital heart lesions

A

Tetralogy of Fallot
Transposition of the great arteries
Tricuspid atresia
Pulmonary atresia

354
Q

Give 3 causes of cyanosis

A
Respiratory 
Cardiac
Seizure 
Stress (infection, hypoglycaemia, adrenal crises)
CNS depression (drugs, trauma, asphyxia)
355
Q

Give 3 cardiac causes of cyanosis

A

Neonatal - TGA, persistent hypertension of the newborn, pulmonary atresia, hypoplastic left heart syndrome
Infant - ToF
Child - pulmonary HTN

356
Q

Give 3 common causes of cardiac failure

A

Cardiac - PSA, hypoplastic left heart, coarctation, cardiomyopathy, critical aortic stenosis, ASD, VSD
Stress - fever, hypoxia, infection, acidosis
Anaemia
Fluid overload

357
Q

What chromosomal abnormality is associated with aortic stenosis, coarctation of aorta and bicuspid aortic valve?

A

Turner’s syndrome

358
Q

What chromosomal abnormality is associated with atrioventricular septal defect, VSD, ASD and tetralogy of Fallot?

A

Down’s syndrome

359
Q

What chromosomal abnormality is associated with conotruncal abnormalities?

A

Di George syndrome

Tetralogy of Fallot, truncus arteriosus, interrupted aortic arch type B, transposition of the great arteries, double-outlet right ventricle, double-outlet left ventricle, anatomically corrected malposition of the great arteries

360
Q

What types of atrial septal defect are there?

A
Patent foramen ovale
Ostium secundum defect
Ostium primum defect
Sinus venosus defect
Coronary sinus defect
361
Q

Where would an ostium primun defect be found?

A

Crux of the heart - middle between atria and ventricles

362
Q

Where would an ostium secundum defect be found?

A

Centre of atrial septum

363
Q

What is the timeline of atrial septal defect?

A

Asymptomatic in childhood, picked up as incidental murmur -> SOB and arrhythmia later in life

364
Q

How is atrial septal defect treated? What is its prognosis?

A

Primum/secundum - surgical repair
Secundum only - transcatheter device closure
Good long term prognosis

365
Q

How are VSDs classified?

A

Membranous or muscular

Small, moderate or large

366
Q

How are VSDs treated?

A

Small will spontaneously close

Large will be repaired in first 6 months of life

367
Q

What problems are caused by VSD?

A

Left ventricular overload
Increased pulmonary blood flow
Cardiac failure

368
Q

What is PDA associated with?

A

Prematurity

Rubella

369
Q

Give 2 examination findings in PDA

A

Bounding femoral pulses

Continuous subclavicular murmur

370
Q

What problems are caused by PDA?

A

Heart failure

Failure to thrive

371
Q

How is PDA treated?

A

Neonates - NSAIDs, surgical ligation

Older - device occlusion by cardiac catheter

372
Q

How does coarctation present?

A

Neonates - collapse, cardiac failure, weak/absent femoral pulses
Older - HTN, radio-femoral delay

373
Q

What x-ray features may be seen in coarcation?

A

Cardiomegaly

Rib notching

374
Q

How is coarctation treated?

A

Younger - surgery

Older - balloon stent

375
Q

What is the commonest neonatal cyanotic cardiac condition?

A

TGA

376
Q

How is TGA treated?

A

Prostaglandins or balloon atrial septostomy - keep PDA to allow mixing of separate circulations
Definitive - arterial switch

377
Q

What x-ray feature may be present in TGA?

A

Egg on string

378
Q

What are the components of tetralogy of Fallot

A

VSD
Right ventricular outflow tract obstruction
Overriding aorta
Right ventricular hypertrophy

379
Q

In what congenital cardiac condition is polycythaemia characteristic?

A

ToF

380
Q

What x-ray feature may be present in ToF?

A

Boot shaped heart with upturned apex

381
Q

How does endocarditis present?

A
Fever
Malaise 
Weight loss
Arthralgia 
Haematuria
Splenomegaly 
Splinter haemorrhages
382
Q

How does endocarditis present?

A
Fever
Malaise 
Weight loss
Arthralgia 
Haematuria
Splenomegaly 
Splinter haemorrhages
383
Q

Give 3 causes of hepatomegaly

A
Infection - viral, bacterial, fungal, parasitic 
Congestive cardiac failure 
Infiltration - neuroblastoma 
Storage - CF, glycogen storage disease 
Idiopathic
384
Q

Give 3 causes of splenomegaly

A
Malaria
Sickle cell 
Hereditary spherocytosis
Thalassaemia 
Portal HTN
Neoplasm
385
Q

Give 3 causes of hepatosplenomegaly

A
EBV
CMV
Portal HTN
Leukaemia
Lymphoma
Thalassaemia
Idiopathic
386
Q

Give 3 problems caused by reflux

A
Vomiting 
Distress
Apnoea
Failure to thrive
Aspiration pneumonia
387
Q

How much should neonates be feeding for the first few months of their lives?

A

150ml//kg/day

388
Q

How is reflux treated?

A

Antacids
Omeprazole
(Ranitidine)

389
Q

Give 4 causes of rectal bleeding

A
Anal fissure 
Swallowed blood 
Gastroenteritis
Hiatus hernia
Peptic ulcer 
Meckel's diverticulum
Intussusception 
IBD
390
Q

Give 3 risk factors for IBD

A
FH IBD
FH thyroid disease/RA
Parental smoking 
Bottle feeding 
Peri-anal signs
391
Q

Give 3 causes of haematemesis

A
Swallowed blood 
Repeated vomiting 
Acute gastritis 
Hiatus hernia 
Drugs (aspirin, iron) 
Peptic ulcer 
Bleeding disorder 
Oesophageal varices
392
Q

What are the signs/symptoms of coeliac disease in infants

A

Pale and bulky stool
Distended abdomen
Wasted buttocks

393
Q

What test is used for coeliac disease?

A

Tissue transglutaminase (TTG-IgA)

394
Q

When is duodenal mucosal biopsy required to diagnose coeliac disease? What will it show?

A

Patients who have moderately elevated TTG
Villous atrophy
Crypt hyperplasia
Increased intraepithelial lymphocytosis

395
Q

Give 3 causes of acute diarrhoea

A
Rotavirus/enterovirus
E.coli/salmonella/campylobacter 
Staphylococcal toxin (food poisoning) 
Pneumonia (response to infection)
Starvation 
Intussusception/pelvic appendicitis/Hirschprung's
396
Q

Give 3 causes of chronic diarrhoea

A
Toddler's diarrhoea 
Constipation with overflow 
Post infectious food intolerance 
IBD
Malabsorption (CF, IBD)
397
Q

How is chronic diarrhoea investigated?

A
Stool - culture and sensitivity, C.diff toxin, virology 
Bloods - FBC, CRP, LFTs, ESR
Serum TTG
Faecal calprotectin 
Peri-anal inspection
398
Q

Give 3 medical and 3 surgical causes of acute abdominal pain

A

Medical - infection (gastroenteritis, pneumonia, mesenteric adenitis, UTI), constipation, HSP, nephritis, DKA, sickle cell, lead poisoning
Surgical - appendicitis, intussusception, volvulus, strangulated hernia, testicular/ovarian torsion

399
Q

What virus is responsible for 60% of gastroenteritis cases in <2 year olds, especially in winter?

A

Rotavirus

400
Q

How is gastroenteritis managed?

A

Rule out surgical/other causes

Assess and manage dehydration - ORS/IV fluids

401
Q

Give 5 clinical signs of dehydration

A
Dry mucous membranes 
Sunken fontanelles
Depressed level of consciousness
Sunken eyes 
Tachypnoea 
Tachycardia
Prolonged CRT 
Decreased skin turgor 
Weight loss
Oliguria
402
Q

How long can viral gastroenteritis last?

A

2-10 days

403
Q

What questions should be asked in the history of a bruised child?

A
Spontaneous vs following injury 
Acute or chronic problem 
Mucosal bleeding (thrombocytopaenia, Von Willebrand)
Internal bleeding (clotting deficiency)
Recent infection (leukaemia, BMF, ITP)
DH (acquired aplastic anaemia) 
FH
404
Q

What features should be looked for on examination of a bruised child?

A
Signs of systemic infection/raised ICP/trauma/anaemia
Site, number and severity of bruises 
Mucosal bleeding 
Hepatosplenomegaly 
Lymphadenopathy 
Painful swollen joints 
Congenital abnormalities 
Consider NAI - ophthalmic exam
405
Q

What investigations should be done in a bruised child?

A

FBC
Coagulation
Other tests depend on examination findings

406
Q

What further investigations/initial management should be done in a bruised child with sepsis?

A

Blood cultures
Infection screen

IV antibiotics

407
Q

What further investigations/initial management should be done in a bruised child with major haemorrhage?

A

Crossmatch
Identify source and stop bleeding

Administer volume expanders
Correct DIC/thrombocytopaenia

408
Q

What further investigations/initial management should be done in a bruised child with DIC?

A

Blood cultures

Antibiotics 
Fluids 
Inotropic support 
Ventilation 
Correct coagulopathy
409
Q

What further investigations should be done in a bruised child with a suspected hereditary coagulation disorder?

A

Clotting factor assay

Platelet aggregation studies

410
Q

What further investigations should be done in a bruised child with suspected acquired haematological condition (e.g. HSP)?

A

BP
Urinalysis
Abdominal USS

411
Q

What further investigations should be done in a bruised child in which NAI is suspected?

A

Skeletal survey
CT (<1 year old)
Retinoscopy

412
Q

Give 4 causes of low/abnormal platelets

A

Malignancy - leukaemia, lymphoma
BMF - aplastic anaemia, Fanconi’s anaemia
Inherited - Glanzman’s thrombasthenia, Wiskott Aldrich syndrome, TAR syndrome, Bernard Soulier, congenital amegakaryocytic thrombocytopenia
Microangiopathic haemolytic anaemia - HUS, congenital thrombotic thrombocytopenia
ITP

413
Q

How does ITP present?

A
1-5 years old 
Platelets <20 
Acute onset bruising/petechiae 
Epistaxis following viral illness in clinically well child 
No atypical features on exam
414
Q

When would a bone marrow aspirate be indicated in suspected ITP and what would it show?

A

If atypical signs present or failure to resolve spontaneously
Normal megakaryocyte number (peripheral destruction by platelet antibodies)

415
Q

What are the complications of ITP?

A

Intracranial haemorrhage

Chronic ITP

416
Q

How long does ITP take to resolve?

A

90% by 6 months

417
Q

How is ITP managed?

A

Careful observation and avoidance of high impact activities
Platelet transfusion if bleeding (will be destroyed rapidly)
IVIG
Consider steroids (consult haematologist) or splenectomy

418
Q

What is ITP?

A

Immune thrombocytopaenic purpura - a bleeding disorder in which the immune system destroys platelets, reducing the ability to form clots

419
Q

What is HSP?

A

Vasculitis caused by deposition of IgA containing immune complexes in capillaries, arterioles and venules

420
Q

How does HSP present?

A

Skin - purpura over extensor surface of lower limbs and buttocks
Joints - non-erosive arthritis of the ankles/knees/elbows
GI - colicky abdominal pain, nausea and vomiting, blood and mucus PR, possible intussusception
Renal - haematuria, proteinuria, HTN

421
Q

What investigations should be done in suspected HSP?

A
No specific diagnostic test 
FBC, CRP, ESR
Urinalysis
BP, abdominal USS
Renal/skin biopsy - IgA deposition
422
Q

What is the prognosis of HSP?

A

Usually spontaneously resolves but can recur in young children

423
Q

How is HSP managed?

A

Supportive - analgesia, monitor renal function/urinalysis/BP, monitor for intussusception

424
Q

Give 4 risk factors for IDA

A
Premature 
LBW
Multiple births
Exclusive breastfeeding >6 months 
Delayed weaning 
Excessive cow's milk
Adolescent female 
Social deprivation 
Strict vegan diet
425
Q

How is IDA treated?

A

Iron supplements
Iron rich diet
Vitamin C (increases absorption)
Continue treatment for 3 months after Hb normalises

426
Q

What causes leukaemia?

A

Ionising radiation

Genetic predisposition - Trisomy 21, Fanconi’s anaemia

427
Q

What is the most common type of leukaemia in children?

A

Acute lymphoblastic leukaemia (ALL)

428
Q

How does leukaemia present?

A
BMF - anaemia, pallor, dyspnoea, increased infection, bruising, epistaxis 
Bone pain/limp 
Hepatosplenomegaly 
Lymphadenopathy 
Testicular enlargement 
Cranial nerve palsies 
Meningism
429
Q

How is leukaemia diagnosed?

A
FBC 
Blood film 
BM aspirate 
LP
Coagulation 
U&amp;Es
LDH
CXR
430
Q

Give 3 poor prognostic factors for leukaemia

A
Age <1 or >10
Male
T cell lineage 
WCC >50 at presentation
Philadelphia chromosome t(9,22)
Failure to rapidly respond to chemotherapy
431
Q

How is leukaemia treated?

A

Multi drug chemotherapy

+/- radiotherapy/bone marrow transplant

432
Q

Name 2 inherited clotting disorders

A

Haemophilia

Von Willebrand’s disease

433
Q

What factor is deficient in haemophilia A?

A

Factor 8

434
Q

What factor is deficient in haemophilia B?

A

Factor 9

435
Q

How is haemophilia diagnosed and treated?

A

Diagnosed - isolated prolonged APTT, specific factor deficiency
Treatment - recombinant factor administration IV

436
Q

What is Von Willebrand’s disease?

A

Mostly AD deficiency or abnormality of factor 8 causing reduced platelet adhesion

437
Q

How is VWD diagnosed?

A

Prolonged APTT
Reduced factor 8
No platelet aggregation on Rostocetin co factor assay

438
Q

How is VWD treated?

A

Desmopressin prophylaxis or recombinant factor 8 for bleeding episodes

439
Q

What questions should be asked in the history of a patient with lymphadenopathy?

A

Timing
Rate of progression
Site - localised/generalised
Associated symptoms - cough, coryza, sore throat, trauma
Systemic features suggesting malignancy - fever, night sweats, weight loss, pruritis, malaise

440
Q

How should lymphadenopathy be examined?

A
Site
Size and number 
Tenderness
Overlying skin changes 
Fluctuance
441
Q

Give 3 features suggestive of malignancy in a patient with lymphadenopathy

A
Supraclavicular or epitrochlear site 
Associated systemic symptoms 
Hepatosplenomegaly 
Other palpable masses 
Signs of BM infiltration (anaemia, bruising)
442
Q

Give 3 malignant causes of lymphadenopathy

A
ALL, AML 
Lymphoma
Hodgkin's disease 
Neuroblastoma 
Rhabdomyosarcoma
443
Q

Give 3 infectious causes of lymphadenopathy

A
Bacterial lymphadenitis (staph, strep)
Viral (URTI, EBV, CMV, HIV, ZVZ)
Cat scratch disease (Bartonella henselae)
TB
Atypical mycobacterium
444
Q

Give 3 autoimmune causes of lymphadenopathy

A
Kawasaki's disease 
JIA
SLE
Sarcoidosis
Drug reaction
445
Q

What investigations may be carried out for lymphadenopathy (depending on history and exam findings)?

A
Bloods - FBC and film, ESR, CRP, blood cultures 
Virology - throat swab, serology
Mantoux test
Radiology - CXR, USS, CT
Surgical - lymph node biopsy