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Paediatrics 1 Flashcards

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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
What is the Moro reflex?
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
26
Outline the neonatal examination - back and spine
Check for midline defects in skin (sacral dimple, tuft of hair, swelling, naevus, discoloration)
27
Outline the neonatal examination - hips
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)
28
What is the Galeazzi sign?
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
29
Outline the neonatal examination - feet
Count toes | Assess foot posture (talipes equino varus)
30
What is talipes equino varus?
Clubfoot Common foot abnormality in which the foot points downward and inward Will resolve, PT
31
What is the most important cause of conjugated hyperbilirubinaemia to diagnose quickly and how can it be identified?
Biliary atresia | Pale stools and dark urine
32
What is biliary atresia?
Blockage in the bile ducts that carry bile from the liver to the gallbladder due to abnormal development
33
What is the most common type of hyperbilirubinaemia and what are its causes?
Unconjugated | Physiological, breast milk jaundice, haemolytic disease, infection, hypothyroidism
34
What is the definition of prolonged jaundice, what is the most common cause and what is the most important cause to identify early?
Visible jaundice persisting >14 days in a term infant and >21 days in a preterm infant Breast feeding Biliary atresia
35
How is prolonged jaundice treated?
Plot serum bilirubin and age on chart to determine if phototherapy or exchange transfusion are needed
36
What are the top 5 causes of respiratory distress in neonates?
``` Transient tachypnoea of the newborn Respiratory distress syndrome Meconium aspiration Pneumothorax Respiratory infection ```
37
Give 5 causes of cyanosis
``` Any cause of respiratory distress Persistent pulmonary hypertension of the newborn Congenital cyanotic heart disease Tracheo-oesophageal fistula Diaphragmatic hernia ```
38
What are the 2 main risk factors for neonatal sepsis?
``` Prolonged or premature rupture of membranes Maternal infection (group B strep) ```
39
Give 2 signs/symptoms of gastrointestinal disorders in neonates
Poor feeding Vomiting Delay in passage of meconium Abdominal distension
40
What is bile stained vomit indicative of?
Intestinal obstruction until proven otherwise
41
Give 5 gastrointestinal disorders in neonates
``` Meconium plug/ileus Duodenal atresia Oesophageal atresia Malrotation with volvulus Hirschpring disease ```
42
What is exomphalos?
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
43
What is gastroschisis?
A birth defect in which a baby's intestines extend outside of the abdomen through a hole next to the umbilicus
44
Give 2 congenital abnormalities of the CNS
``` Neural tube defects Anencephaly Encephalocele Microencephaly Spina bifida ```
45
When does the neural tube usually close?
3 weeks post conception
46
Define anencephaly
NTD Large portion of scalp, skull and cerebral hemispheres do not develop Usually detected antenatally, always fatal
47
Define encephalocele
NTD Protrusion of brain and meninges through midline defect in skull Usually associated with craniofacial abnormalities and/or other cerebral abnormalities
48
Define microcephaly
Small head due to incomplete brain development or arrest of brain growth Present at birth or can develop over years
49
Give 2 causes and 2 signs/symptoms of microcephaly
Causes - genetic, TORCH infections, maternal substance abuse, perinatal hypoxia Symptoms - OFC crossing centiles, shallow sloping forehead, developmental delay, seizures, short stature
50
Name 2 devastating brain malformations
Lissencephaly (smooth) Holoprosencephaly (no hemispheres) Schizencephaly (clefts) Porencephaly (cavities)
51
What is a sacral pit and what is its significance?
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
52
What is a cleft lip/palate?
Failure of maxillary processes to fuse | Can be unilateral/bilateral
53
What is the incidence of cleft lip/palate?
1 in 1000
54
When is cleft lip/palate repaired?
Lip - 3 months | Palate - 6-12 months
55
Give 2 complications of cleft palate
Feeding problems Speech problems Psychological issues Aspiration pneumonia
56
What are periauricular pits?
Dimple/indentation in skin anterior to tragus
57
Why might a neonate with periauricular pits need further investigation?
Weak association with renal abnormalities | Assessed if other dysmorphisms/maternal diabetes/family history/deafness
58
What are preauricular tags?
Skin tags anterior to tragus | Harmless, cosmetic
59
What is a tracheo-oesophageal fistula and how does it present?
Communication between trachea and oesophagus | Coughing/choking during feeding, abdominal distension, recurrent chest infection
60
How is a tracheo-oesophageal fistula diagnosed and treated?
Bronchoscopy and contrast studies of oesophagus | Surgical correction
61
What condition is associated with duodenal atresia?
Down's syndrome
62
What sign on x-ray is indicative of duodenal atresia?
Double bubble
63
Why might surgical repair of exomphalos/gastroschisis need to be done in stages?
Abdomen may be too small to hold the bowel
64
What is hypospadias and when is it repaired?
Urethral opening on underside of penis | 12-18 months
65
What advice should be given to parents of a neonate with hypospadias?
Do not circumcise - foreskin can be used in repair
66
Give 2 symptoms of imperforate anus
Failure to pass meconium Bilious vomiting Abdominal distension
67
What side is most common for a diaphragmatic hernia in neonates?
Left; 90%
68
How is a diaphragmatic hernia identified?
Antenatal US or at birth (scaphoid abdomen, apparent dextrocardia, respiratory distress)
69
What is pulmonary hypoplasia and when is it a problem in neonates?
Incomplete development of the lungs, resulting in decreased number/size of bronchopulmonary segments Complication of surgical repair of diaphragmatic hernia
70
What is achondroplasia and what is its aetiology?
Disorder of bone growth causing dwarfism | Autosomal dominant/spontaneous FGFR3 gene mutation on chromosome 4
71
Give 3 signs of achondroplasia at birth
``` Short limbs Large head Flat midface Frontal bossing Lumbar lordosis Trident hand ```
72
Give 2 complications of achondroplasia
Short stature Talipes equinovarus Hydrocephalus
73
Define polydactyly
>5 finger/toes on any limb
74
Define syndactyly
Webbed fingers/toes
75
What is the incidence of Down's syndrome?
1 in 1000
76
What genetic mechanisms can be involved in Down's syndrome?
Non-disjunction (>90%) Translocation (5%) Mosaicism (1%)
77
What contributes to assessment of risk of Down's syndrome on screening?
Beta-hCG PAPP-A Maternal age Foetal nuchal translucency
78
What testing is offered to mothers who have a positive screening for Down's syndrome and what are the risks of miscarriage of each?
Chorionic villus sampling (1.5%) or amniocentesis (1%)
79
Give 5 facial features of Down's syndrome
``` 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 ```
80
What percentage of children with Down's syndrome will have congenital heart disease and which conditions are most common?
50% Atrioventricular septal defects Ventricular septal defect Tetralogy of Fallot
81
Give 3 gastrointestinal problems that children with Down's syndrome are at increased risk of
``` Hirschprung's disease Duodenal atresia Imperforate anus Umbilical hernia GORD Coeliac disease ```
82
Give 4 features of Down's syndrome on physical examination
``` Generalised hypotonia Short neck with excess skin at nape Brachycephaly Single palmar crease Short hands/fingers Sandal toe gap Poor growth Short stature ```
83
Give 4 neurological complications of Down's syndrome
``` Learning difficulties Hearing impairment Strabismus Cataract Epilepsy Atlanto-axial instability ```
84
Why do children with Down's syndrome often have hearing impairment?
Recurrent otitis media
85
What is strabismus?
A condition in which the eyes do not properly align with each other when looking at an object; squint
86
Give 4 complications of Down's syndrome
``` AML/ALL Hypothyroidism Recurrent respiratory infection Obstructive sleep apnoea Alzheimer's disease ```
87
What is trisomy 18? Give 4 features
``` Edward's syndrome Microcephaly Small chin Low set ears Overlapping fingers Rocker bottom feet VSD/ASD PDA ```
88
What are rocker bottom feet?
Congenital vertical talus | Rare congenital foot deformity in which the sole of a child's foot flexes abnormally in a convex position
89
What is trisomy 13? Give 4 features
``` Patau's syndrome Holoprosencephaly Structural eye defects Polydactyly Cutis aplasia Cardiac defect Renal defects ```
90
What is Turner's syndrome? Give 4 features
``` 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 ```
91
What is Klinefelter's syndrome? Give 4 features
``` XXY Infertility Hypogonadism Micro-orchidism Gynaecomastia Tall stature May have moderate learning difficulties ```
92
What is fragile X syndrome? Give 4 features
``` 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) ```
93
What are the TORCH infections?
Common intrauterine infections ``` Toxoplasmosis Other (syphilis) Rubella CMV Herpes simplex virus ```
94
What are the signs/symptoms of CMV intrauterine infection?
``` Low birth weight Microencephaly Cerebral calcification Hepatosplenomegaly and jaundice Petechiae ```
95
How is intrauterine CMV infection treated?
Gancyclovir
96
What are the risks of CMV intrauterine infection?
``` Hearing loss Mental retardation Psychomotor delay Cerebral palsy Impaired vision ```
97
What are the signs/symptoms of rubella intrauterine infection?
``` Cataracts Microphthalmos Sensorineural hearing loss Thrombocytopenic purpura (blueberry muffin rash) Pulmonary artery stenosis PDA Hepatomegaly ```
98
What are the signs/symptoms of toxoplasmosis intrauterine infection?
``` Hydrocephalus/microcephaly Chorioretinitis Cerebral calcification Cerebral palsy Epilepsy ```
99
Give 4 features of foetal alcohol syndrome
``` 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 ```
100
Give 4 drugs which are teratogenic in pregnancy and 1 adverse effect
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
101
What is Ebstein's anomaly?
Rare heart defect in which the tricuspid valve is not formed properly
102
What is Prader-Willi syndrome?
A complex genetic condition caused by loss of function of genes on chromosome 15 that affects many parts of the body
103
Give 4 features of Prader-Willi syndrome
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
104
Milestones | Gross motor - 6 weeks
Head held steady when pulled to sit Head held steady when in ventral suspension Head lifting in prone position
105
Milestones | Fine motor/vision - 6 weeks
Watching/staring | Fixing and following
106
Milestones | Hearing and speech - 6 weeks
Stills to mother's voice
107
Milestones | Social - 6 weeks
Smiling
108
Milestones | Gross motor - 6-9 months
Pulls self from sitting to standing (6-12m) Rolls over (6m) Cruises (9-14m)
109
Milestones | Fine motor/vision - 6-9 months
Palmar grasp (6m) Forgets fallen objects at 6m and follows at 9m Transfers objects from one hand to the other (7m)
110
Milestones | Hearing and speech - 6-9 months
"Ma" "da" (6m) | Babbling/polysyllables e.g. "dada" "gaga" (9m)
111
Milestones | Social - 6-9 months
Objects to mouth Enjoys baths Stranger aware (9m)
112
Milestones | Gross motor - 1 year
Walking (8-18m) | Rise to sitting position from lying
113
Milestones | Fine motor/vision - 1 year
Casts objects Pincer grip Bangs things together
114
Milestones | Hearing and speech - 1 year
1-3 words with meaning | Turns to own name
115
Milestones | Social - 1 year
Comes when called Co-operates with dressing Drinks from cup Waves bye
116
Milestones | Gross motor - 18 months
Throws toy without falling Climbs stairs holding rail/two feet one step Unsteady run
117
Milestones | Fine motor/vision - 18 months
Scribbles | Builds tower of 3-4 cubes
118
Milestones | Hearing and speech - 18 months
Points to body parts Obeys simple instructions 10 words
119
Milestones | Social - 18 months
Lifts and drinks from cup Spoon feeds self Takes off shoes/socks/hat
120
Milestones | Gross motor - 2/2.5 years
Runs safely Kicks ball Jumps on spot
121
Milestones | Fine motor/vision - 2/2.5 years
Imitates vertical line Builds tower of 6-8 cubes Turns book pages one at a time
122
Milestones | Hearing and speech - 2/2.5 years
>50 words Phrases of 2-3 words Gives own name
123
Milestones | Social - 2/2.5 years
Dry by day No sharing, plays alone Simple imaginative play
124
Milestones | Gross motor - 3/3.5 years
Stands on one leg momentarily Climbs stairs normally Rides tricycle
125
Milestones | Fine motor/vision - 3/3.5 years
Holds pencil properly Builds tower of 9-10 bricks/bridge Copies circle
126
Milestones | Hearing and speech - 3/3.5 years
Gives full name and sex Counts to 10 at least Understands meaning of under/over/in/out
127
Milestones | Social - 3/3.5 years
Pulls pants up and down alone Plays with others Eats with fork and spoon
128
Milestones | Gross motor - 4/5 years
Up and down stairs normally Hops Runs on tiptoe
129
Milestones | Fine motor/vision - 4/5 years
Copies squares and crosses (4y), draws triangle and stick man (5y) Builds tower of >10 blocks Matches and names 4 colours
130
Milestones | Hearing and speech - 4/5 years
Fluent, clear speech | Counts to 20 or more
131
Milestones | Social - 4/5 years
Brushes teeth Shows sense of humour Understands taking turns/sharing Toilet trained (by 4y)
132
What is important to note about a delay in development?
Global (2 or more areas) or specific (1 area alone)
133
What is the difference between global developmental delay and intellectual developmental disability?
In practice the term “global developmental delay” can be used up to age 5, but should then be replace by “ intellectual developmental disability”
134
Give 4 antenatal causes of intellectual developmental disability
Genetic - chromosomal (Down's syndrome), specific (fragile X), neurodegenerative (Rett syndrome), metabolic (PKU), familial Acquired - FAS, drug exposure, rubella, infarct Unknown - dysmorphic, brain malformation
135
Give 4 non-antenatal causes of intellectual developmental disability
Perinatal - intraventricular haemorrhage, hypoxic ischaemia, encephalopathy Postnatal - NAI, RTA, cranial radiotherapy Unknown - psychiatric (autism), neurological (epilepsy, cerebral palsy)
136
What is regression and what is its significance?
Loss of skills already acquired | Red flag - needs investigation/referral to paediatric neurologist
137
Give 3 causes of gross motor delay (e.g. delayed walking)
Cerebral palsy DMD Antenatal stroke Part of global developmental delay (DS)
138
When should a child who is not walking be referred to a paediatrician?
18 months
139
Give 3 causes of speech delay
``` Familial Hearing impairment Poor social interaction/social deprivation ASD DMD Part of global developmental delay (DS) ```
140
What 2 initial things should be done in speech delay?
SALT referral | Hearing test
141
When should solids be introduced to a baby's diet?
6 months
142
When should cow's milk be introduced to a baby's diet?
1 year
143
What is the risk if children exclusively drink milk after 6 months?
IDA
144
Give 2 pointers for managing fussy eaters
Encourage balanced varied diet Disguise veg Take diet history of a typical day Need full fat milk and egg yolk
145
Outline typical sleeping requirements for newborns, 1 year olds and 2 year olds
Newborn - 16 hours 1 year old - 14 hours 2 year old - 12 hours
146
How are sleep problems in young children managed?
Do not stimulate if waking at night Ensure quiet/safe environment Wind down routine before bed Severe may need referral and/or melatonin
147
How are behaviour problems in young children managed?
Listen to and reassure parents Ask about any upheaval/bullying Discourage negative language about the child Consistent approach and routine
148
How should bruising in a very young child be managed?
A child who doesn't walk should not be bruised - child protection issue Accidental bruising occurs on bony prominences, NAI on soft areas
149
Give 3 common problems of growth and puberty in children
``` 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 ```
150
What are the normal phases of growth and puberty?
Infantile phase - conception to 2 years Childhood phase - 2 years until adolescent growth spurt Pubertal phase - from adolescent growth spurt until final height
151
Describe the involvement of growth hormone and thyroxine in the infantile and childhood phases
Infantile - GH and thyroxine independent | Childhood - GH and thyroxine dependent
152
What is the role of oestrogen in early growth?
Stimulates GH and fused epiphyses in both sexes
153
What marks puberty in girls and boys?
Girls - breast development at 11 years | Boys - testicular enlargement at 11.5 years
154
When does menarche occur in girls?
13.5 years
155
When does the adolescent growth spurt reach its peak in boys and girls?
Boys - 14 years | Girls - 12 years
156
How do you calculate mid-parental height and target range for boys?
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
157
How do you calculate mid-parental height and target range for girls?
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
158
How is short/tall stature defined?
Short - >2 SD below mean (below 2.5th/2nd/3rd centile) | Tall - >2 SD above mean (97th/98th)
159
Define precocious puberty
Puberty beginning <8 years in girls and <9 years in boys
160
Define early/advanced puberty
Puberty beginning 8-10 years in girls and 9-11 years in boys
161
Give 4 causes of short stature
``` NIDSCED Normal genetic Constitutional delay in growth/adolescence Intrauterine growth retardation Dysmorphic syndromes Skeletal dysplasia Chronic systemic disease Endocrine disorders Dire social circumstances ```
162
What is weight faltering AKA and what are the 2 types?
Failure to thrive | Organic (e.g. malabsorption, cardiac/renal/respiratory) and non-organic (more common)
163
In absence of other clinical features, what does growth failure in a child indicate?
Growth hormone deficiency
164
What investigation should be done in a child with precocious puberty?
MRI
165
Give 3 typical features of a child with delayed puberty
``` Male Short Young for age Parents not short Bone age delayed ```
166
Give 2 features of GH deficiency
Rare Isolated/with other deficiencies Congenital/acquired
167
What is a craniopharyngioma?
Rare pituitary gland tumour which can cause GH deficiency
168
How is GH deficiency treated?
GH subcutaneous injection every night until final height is reached; may continue into adulthood
169
Give a cause of primary ovarian failure
Turner's syndrome | Total body irradiation
170
Give 1 congenital and 1 acquired cause of primary hypothyroidism
Congenital - thyroid dysgenesis | Acquired - Hashimoto's
171
What is the most common cause of polyuria and polydipsia in preschool children and how can it be managed?
Habit drinking | Banning flavoured drinks
172
Give 4 advantages of breastfeeding for the baby
``` Reduced mortality and morbidity Reduced infection Reduced SIDS Promotes gut development Improved cognitive ability Reduced autoimmune and cardiovascular disease ```
173
By what mechanism do babies draw milk from the breast?
Compression (not sucking)
174
Give 2 advantages of breastfeeding for the mother
Reduced breast and ovarian cancer Reduced diabetes Reduced postnatal depression
175
What are the 2 main types of infant formula milk? Give examples
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
176
When might specialised infant formula be used?
Non-breast fed infant with medical condition (e.g. intolerance/allergy, preterm/weight faltering, enteropathy)
177
What foods should be avoided before 6 months?
Wheat/gluten rich (e.g. bread) Eggs, fish, liver, shellfish Nuts, peanuts, seeds Cow milk, soft/unpasteurised cheese
178
What foods should be avoided before 1 year?
Honey | May be useful to avoid allergenic food - ongoing research
179
What vitamin supplements should be given to babies and when?
Health Start vitamins from 6 months to 4 years (unless drinking >500ml of formula)
180
What is considered as weight faltering/failure to thrive?
Abnormally large drop in weight centile Low BMI Slow height growth
181
Give 3 reasons why infants are more vulnerable to malnutrition
``` High growth rates Low stores Small size Higher levels of activity Higher morbidity Dependence on others for food ```
182
How is BMI calculated in children?
Same as adults but BMI chart needed to interpret
183
Give 3 reasons why a child may become overweight
``` Excess intake relative to expenditure Organic causes exceptionally rare Strong familial tendency Gene environment interaction Single gene defects rare, but polymorphisms common ```
184
Define developmental impairment
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
Give 3 causes of developmental impairment
Prenatal - Down's syndrome, Rett syndrome, PKU, tuberous sclerosis, FAS, rubella, brain malformation Perinatal - intra-ventricular haemorrhage, ischaemic encephalopathy Postnatal - radiotherapy, brain injury
186
Give 6 red flags for development that require assessment by neurology/other senior specialising in development
``` 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
What milestone delays should be referred for assessment?
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
What is the role of child development centres?
See 0-19 year olds where there are concerns about development Based in the local community Aim for early intervention
189
Give 3 professionals who might be involved in a child's health team in the community
``` Community paediatrician PT OT Health visitor SLT CAMHS Specialist nurse ```
190
What 3 domains are affected in ASD?
Social interaction Social communication Repetitive/ritualised behaviour
191
Give 4 symptoms of ASD
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
Define cerebral palsy
Umbrella term for children who have a central (brain) motor deficit which is non-progressive and has been caused in early life
193
Give 3 features suggestive of cerebral palsy
``` Premature Stormy neonatal course Developmental delay (motor) Preference for one hand (weakness) Feeding difficulties Impaired communication Problems with pain and sleep Seizures ```
194
What feeding problems can be encountered in children with cerebral palsy?
Lack of oro-motor skill development Reflux and aspiration pneumonia Poor weight gain Malnutrition
195
What motor impairment problems can be encountered in children with cerebral palsy?
Spasticity Dyskinesia Posture problems Hip dislocation
196
What is CPIPs?
Cerebral palsy in paediatrics surveillance - regular PT and ortho input; assessment and hip x-rays
197
What is nocturnal enuresis?
Bedwetting - involuntary wetting during sleep at least twice a week in children older than 5 years of age
198
What are the 2 types of nocturnal enuresis?
Primary - never achieved continence (+/- daytime symptoms) | Secondary - previously dry for >6 months
199
Give 2 causes of primary bedwetting without daytime symptoms
Lack of sleep arousal Polyuria Small capacity/overactive bladder
200
Give 2 causes of primary bedwetting with daytime symptoms
Overactive bladder Structural abnormalities (e.g. ectopic ureter) Neurological disorders (e.g. neurogenic bladder) Chronic constipation UTI
201
Give 2 causes of secondary bedwetting
``` Diabetes UTI Constipation Inadequate fluid intake Psychological Family problems Environment ```
202
How is bedwetting managed?
``` Investigate cause Explain and don't blame Advise on fluid intake Use rewards Consider alarm Consider desmopressin ```
203
What should be asked in the history of a child with constipation?
``` 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
What should be included in examination of a child with constipation?
Faecal masses in abdomen Anal fissure Rectal exam (should only be done by surgical team if warranted) Spine/muscle/reflexes
205
How is constipation in a child managed?
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
What checks and immunisations are given at birth?
Baby checks, hearing (auditory brainstem response) | BCG (and hepatitis for high risk)
207
What checks are done at 5 days?
Blood spot/heel prick/Guthrie test
208
When is the first midwife appointment after birth?
10-14 days
209
What immunisations are given at 8 weeks?
DTaP/IPV/Hib PCV Rotavirus
210
What immunisations are given at 3 months?
DTaP/IPV/Hib MenC Rotavirus
211
What immunisations are given at 4 months?
DTaP/IPV/Hib | PCV
212
What immunisations are given at 12 months?
Hib | MenC
213
What immunisations are given at 13 months?
MMR | PCV
214
What immunisations are given at 2 years?
Influenza
215
What immunisations are given at 3.5 years?
DTaP/IPV | MMR
216
What 5 core conditions are tested for in the neonatal blood spot test?
``` PKU Congenital hypothyroidism CF Sickle cell disease MCADD (medium chain acyl-CoA dehydrogenase deficiency) ```
217
What 4 rare metabolic disorders are also tested for in the neonatal blood spot test?
Homocysteinuria Maple syrup urine disease Glutaric aciduria type 1 Isovaleric aciduria
218
What differential diagnosis headings should be used in an MSK consultation?
T - tumour, trauma I - infection, inflammation M - mechanical, muscular, metabolic
219
Describe the morphology and growth of long bones in children
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
How can bone age be estimated?
Using radiological features on wrist x-ray due to sequence of ossification of hand and wrist bones
221
Define enthesis
Point of insertion of a tendon/ligament/fascia/joint capsule onto bone; prone to mechanical, growth related and inflammatory stresses
222
What is Gower's sign and what does it suggest?
Using hands to splint legs when rising from sitting | Muscle weakness; classically DMD
223
Give 5 red flag history features of leg pain
``` 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
Give 3 red flag examination features of leg pain
``` Area of tenderness Mass Metaphyseal tenderness (marrow infiltration) Postural shift to minimise pain Neurological features Weight loss, fever, bruising, anaemia ```
225
Give 3 red flag investigation features of leg pain
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
Give 4 history features of benign leg pain
``` Wakes suddenly from sleep with cramp Resolves quickly with massage/pain relief Normal function Often bilateral or moves site May be exercise induced ```
227
What are the top 3 organisms causing septic arthritis?
Staphylococcus aureus Streptococcus pneumoniae Haemophilus influenza
228
Give 4 signs/symptoms of a child with septic arthritis
Joint - extremely painful, hot, swollen, red, pseudoparalysis Fever Headache Other focus of infection - septicaemia, pharyngitis, meningitis, cellulitis
229
What age group needs to be carefully evaluated for septic arthritis and why?
Neonates - only physical sign may be irritability and pseudoparalysis
230
Give 3 differentiating factors between septic arthritis and transient synovitis/reactive arthritis
Pyrexia >38.5 in the last week Inability to weight bear ESR > 40 WBC > 12
231
How is septic arthritis managed?
``` 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
In what 2 ways does osteomyelitis present?
Classic - acutely unwell child, pyrexia, local erythema and tenderness Subacute - recent varicella zoster infection, point tenderness at metaphyses, night pain, limp
233
How is osteomyelitis managed?
``` Blood cultures Bone aspiration (abscess) High dose IV antibiotics Splintage ```
234
Is an x-ray useful in diagnosing osteomyelitis and why?
No | Changes occur late so a normal x-ray does not exclude disease
235
What can cause a more insidious onset of septic arthritis/osteitis and how is this diagnosed?
TB | PCR quicker than cultures (6 weeks)
236
What is the most common cause of joint swelling in children?
Reactive arthritis
237
What causes reactive arthritis and how is it managed?
Viral/bacterial infection | Short lived, self-limiting
238
What are the differential diagnoses for reactive arthritis?
Rheumatic fever HLA B27 associated reactive syndrome Transient synovitis of the hip Discitis
239
Rheumatic fever - cause, signs/symptoms, important labs and management
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
HLA B27 associated reactive syndrome - cause, signs/symptoms and management
Cause - post-enteric/genitourinary infection (shigella, e.coli, salmonella, STI) Signs/symptoms - urethritis, conjunctivitis, plantar fasciitis Management - self-limiting
241
Transient synovitis of the hip - cause, signs/symptoms, important investigations and management
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
Transient synovitis of the hip - cause, signs/symptoms, important investigations and management
Cause - unknown Signs/symptoms - refusing to walk, low grade fever, localised lumbar tenderness Investigation - MRI Management - self-limiting
243
What is juvenile idiopathic arthritis?
Group of conditions all including childhood onset of chronic inflammatory arthritis of unknown aetiology
244
Give 3 features of juvenile idiopathic arthritis
Persistent joint swelling Inflammatory features - early morning stiffness, warmth Asymptomatic chronic anterior uveitis (1/3)
245
Name 2 vasculitis conditions which are more common in children than adults
Henoch-Schonlein purpura | Kawasaki disease
246
Give 4 early features of Kawasaki disease
``` 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
Give 2 late features of Kawasaki disease
``` Coronary artery aneurysms Peeling skin Cardiac ischaemia Myocardial infarction Claudication (other aneurysms) ```
248
How is Kawasaki disease treated?
IVIG
249
Give 2 malignancies of childhood which cause an MSK presentation
Leukaemia - ALL, AML Neuroblastoma Primary bone - Ewing's sarcoma, osteosarcoma
250
What classification system is used for fractures near/involving the growth plate?
Salter-Harris classification
251
What type of physeal fractures need referral to orthopaedics and why?
Salter-Harris type III and IV | Intra-articular - high risk of growth disturbance, need surgery
252
Give 2 fracture types which occur in children but not adults
Buckle fracture Plastic deformation Greenstick fracture
253
How is fracture healing time estimated?
'Age in years + 1' weeks | Physeal fractures heal in 2-3 weeks
254
How should you ensure non-accidental injury is not missed?
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
What is Legg-Calve-Perthes disease?
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
Who most commonly gets Perthes disease? How does it present?
4-8 year old boys | Groin/knee pain, limp, reduced hip abduction and internal rotation
257
Give 3 things associated with SUFE
``` Early adolescence Obesity Hypothyroidism Chronic renal failure Previous radiotherapy Growth hormone therapy ```
258
How does SUFE present?
Insidious onset hip pain referred to knee Limp Externally rotated and shortened leg
259
How is SUFE diagnosed and managed?
X-ray - frog leg position | Surgery - pinning
260
What is a slipped upper femoral epiphysis?
The head of the femur slips off posteriorly for reasons that are not known
261
What is DDH?
Neonatal hip instability Acetabular dysplasia with or without subluxation Frank dislocation of the hip joint
262
What are the main risk factors for DDH?
First degree relative family history Female Breech after 35 weeks Foot deformity
263
What signs are indicative of DDH on newborn hip examination?
``` Presence of risk factors Asymmetrical groin skin creases Leg length discrepancy Reduced hip abduction Barlow (dislocatable) or Ortolani (relocatable) positive ```
264
How is DDH managed?
Baby - splint in abduction using Pavlik harness Older child - cast (closed reduction) or surgery >3 years old - open reduction and osteotomy
265
What is talipes equinovarus?
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
What are the 2 types of clubfoot and how are they treated?
Fixed - Ponseti technique (plaster casts changes weekly, cutting of Achilles, abduction foot orthosis), surgery Positional - stretching
267
What is the most common deformity of the spine in childhood?
Scoliosis
268
Give 2 causes of scoliosis
Leg length discrepancy DMD Cerebral palsy Idiopathic
269
Give 5 red flag features for back pain
``` <4 years old Night pain Functional disability Postural shift >4 week duration Limitation of movement Neurological signs ```
270
How is a normal variant diagnosed?
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
Give 2 examples of normal variants
``` In-toeing Out-toeing Knock knees Bow legs Flat feet Curly toes ```
272
What is Osgood-Schlatter's syndrome?
Common overuse syndrome typically occurring in boys aged 11/12 who are physically active
273
What are the signs/symptoms of Osgood-Schlatter syndrome?
Pain over tibial tuberosity at insertion of patellar ligament Swelling Tenderness
274
What signs/symptoms are indicative of anterior knee pain and how is it managed?
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
What are the 4 MSK components of baby checks?
``` Erb's palsy Supernumerary digits Foot deformities Hip examination for DDH Congenital muscular torticollis ```
276
Give 3 causes of Rickets
``` Vitamin D deficiency Calcium deficiency Hypophosphataemia Vitamin D dependent Hypophosphatasia ```
277
What signs/symptoms are indicative of a pulled elbow and how is it managed?
Crying toddler, refusal to move elbow | Reduction via supination and pronation of the forearm with elbow flexed
278
What signs/symptoms are indicative of a pulled elbow and how is it managed?
Crying toddler, refusal to move elbow | Reduction via supination and pronation of the forearm with elbow flexed
279
What is cerebral palsy?
A dynamic/changing disorder of posture and movement caused by a non-progressive lesion to the developing brain
280
Give 3 causes of cerebral palsy
Antenatal – toxins, teratogens, infection Perinatal – hypoxic insult, sepsis Postnatal – meningitis, trauma
281
Define spastic, dystonic, dyskinetic and ataxic
Spastic – increased tone Dystonic – muscle spasm Dyskinetic – increased activity Ataxic – impaired co-ordination
282
Define tetraplegic, hemiplegic and diplegic
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
Define plegia, paresis and dystonia
Plegia – paralysis Paresis – weakness Dystonia – muscle spasm not dependent on stretch
284
Give 3 co-morbidities in cerebral palsy
``` Epilepsy Learning disability Behaviour problems Feeding problems/GORD Osteoporosis ```
285
How is cerebral palsy managed?
Define cause Support MDT – paediatrician, PT, OT, SLT, dietician, nurse specialist Manage co-morbidities Prevent deformity – PT, botulinum toxin, surgery
286
How much folic acid is advised in pregnancy?
400 micrograms/day 1 month prior to conception onwards
287
What are the signs/symptoms of spina bifida?
Flaccid weakness of lower limbs Absent reflexes Lack of sensation Difficulty walking – varied level
288
What is a myelomeningocele?
Outpouching of the spinal cord and its coverings through a defect in the posterior aspect of the vertebral arches
289
What problems are associated with a myelomeningocele?
``` Mobility Sensation Bladder and bowel function Hydrocephalus Learning difficulties ```
290
What is a Chiari malformation?
Structural defect in the cerebellum, characterized by a downward displacement of one or both cerebellar tonsils through the foramen magnum
291
What is cerebral perfusion pressure?
MAP-ICP
292
What are the clinical signs of raised ICP in an infant/child?
``` Inconsolable crying Irritability Vomiting Headache Tense fontanelles Lethargy Visual disturbance Fluctuating level of consciousness Abnormal pupils Seizure Motor disturbance ```
293
How is raised ICP managed?
``` A-E assessment Tilt patient head up Consider mannitol Treat underlying cause CT scan when stable Surgical decompression ```
294
What is the difference between DMD and Becker muscular dystrophy?
Both mutations in X linked dystrophin gene | In Becker, there is weakness but a significant amount of dystrophin is preserved
295
Give 2 signs/symptoms of muscular dystrophy
``` Muscle weakness Positive Gowers sign Lumbar lordosis Calf muscle hypertrophy Learning problems in some ```
296
What investigations are done in suspected DMD?
``` Creatine kinase (raised) DNA testing for mutation ```
297
What is an epileptic seizure?
An epileptic seizure is a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain
298
Define epilepsy
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
When can a diagnosis of epilepsy no longer be applicable?
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
Give 4 things you'd want to ask about in the history of someone who has suspected epilepsy
``` Witness history Where When What was the patient doing First signs Detailed description Aftermath Timing Video available? ```
301
What are the differential diagnoses for an epileptic seizure?
``` 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
How are childhood epilepsy syndromes diagnosed?
Based on age at onset, seizure type(s), neurological findings, aetiology, EEG features
303
What is positional plagiocephaly?
Condition in which specific areas of an infant's head develop an abnormally flattened shape and appearance
304
How can positional plagiocephaly be prevented/improved?
Encourage playing on stomach Position toys/people/objects of interest on less preferred side Limit time in bouncer/car seat
305
At what age can children experience a febrile convulsion?
6 months - 5 years
306
What is the relationship between febrile seizures and epilepsy?
3% will progress to epilepsy
307
Give 3 signs of respiratory distress
Recession - sternal/subcostal/intercostal Nasal flare Head bobbing Tracheal tug
308
What is Harrison's sulcus?
Bilateral depression on the side of the chest wall along the costal margins where the diaphragm inserts - sign of chronic asthma
309
How should a respiratory examination be ended?
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
Give 4 differentials for an acute cough
``` Upper respiratory tract infection Croup Bronchiolitis Pneumonia Acute exacerbation of asthma Viral induced wheeze Pertussis Inhaled foreign body ```
311
Give 2 differentials for a chronic cough
Asthma Infection GORD Chronic illness (CF, Kartagener syndrome) Extrinsic compression of trachea/bronchus by enlarged heart/glands/tumour
312
Give 2 differentials for acute stridor
``` Croup (acute laryngotracheobronchitis) Acute epiglottitis Bacterial tracheitis Inhaled foreign body Retropharyngeal abscess Acute angioneurotic oedema Vascular rings ```
313
Stridor - age, onset, respiration, cough, drooling, appearance, hypoxia
``` Age - 2-7 years Onset - hours Respiration - laboured Cough - mild Drooling - yes Appearance - pale Hypoxia - frequent ```
314
Croup - age, onset, respiration, cough, drooling, appearance, hypoxia
``` Age - 1-3 years Onset - 1-2 days Respiration - increased Cough - moderate Drooling - no Appearance - anxious Hypoxia - unusual ```
315
Foreign body - age, onset, respiration, cough, drooling, appearance, hypoxia
``` Age - >6 months Onset - sudden Respiration - variable Cough - severe Drooling - no Appearance - normal Hypoxia - variable ```
316
What are the cause, symptoms and treatment for croup?
``` Parainfluenza Hoarse voice, barking cough, stridor Oral dexamethasone (and nebulised adrenaline if severe), do not upset the child ```
317
Give 2 bacterial and 2 viral causes of pneumonia
Bacterial - S.pneumoniae, mycoplasma (5-14 years), group B strep (neonates) Viral - RSV, influenza, parainfluenza
318
What is bronchiolitis?
Acute lower RTI with inflammation of small airways affecting infants
319
What causes bronchiolitis?
RSV (50-90%) Parainfluenza Influenza A Rhinovirus
320
What are the clinical features and course of bronchiolitis?
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
How is bronchiolitis managed?
Oxygen if hypoxic | NG feeds/IV fluids if poor feeding
322
Give 3 pathophysiological features of asthma
``` Triggered (cold weather, exercise, stress, virus) Bronchial hyper-responsiveness Smooth muscle constriction Thickening/oedema of bronchial wall Mucus hypersecretion ```
323
Give 6 important features of the history to illicit in asthma
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
What are the 5 steps of asthma treatments from the BTS?
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
What inhalers and devices are there?
Inhaler - pressurised metered dose inhaler | Devices - spacers, dry powder (>8 years old)
326
Describe the genetics of cystic fibrosis
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
What is CF?
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
What is the role of normal CFTR?
Allows chloride ions out of a mucosal cell and into the lumen; defect causes thickened secretions
329
What does CFTR stand for?
Cystic fibrosis transmembrane conductance regulator
330
What is the principal cause of death in CF?
Lung disease - haemophilus influenzae, staphylococcus aureus
331
What effect does CF have on fertility?
98% males infertile due to congenital bilateral absence of vas deferens Reduced fertility in females due to abnormal cervical mucus
332
What ENT features are associated with CF?
Nasal polyps | Sinusitis
333
What respiratory features are associated with CF?
``` Cough Purulent sputum Pneumonia Bronchiectasis Chest deformity Respiratory failure ```
334
What features of poor growth are associated with CF?
Increased metabolic demand Poor weight gain and FTF Short stature
335
What GI features are associated with CF?
``` 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
What endocrine feature is associated with CF?
Diabetes
337
How is CF diagnosed?
Neonatal screening - immunoreactive trypsin (IRT) levels on blood spot If positive, sent for genetic testing
338
How does CF normally present in neonates?
Meconium ileus Failure to thrive Recurrent chest infection Malabsorption
339
How is CF managed?
``` Daily PT Daily antibiotics (flucloxacillin prophylaxis) Creon Fat soluble vitamin supplements High calorie diet ```
340
How is an exacerbation of CF treated?
Double dose of prophylactic antibiotics Planned 2nd line antibiotics May require admission for IV (portacath may be useful)
341
On cardiovascular examination, what does absence, weakness or delay of femoral pulse compared with right radial or brachial pulse suggest?
Coarctation of the aorta
342
On cardiovascular examination, what does collapsing pulse suggest?
Patent ductus arteriosus
343
What are the 2 types of heave which may be felt during cardiovascular examination of an infant?
Parasternal | Subxiphoid
344
What are the 2 types of thrill which may be felt during cardiovascular examination of an infant?
Precordial | Suprasternal
345
What does a suprasternal thrill suggest?
Aortic stenosis
346
On cardiovascular examination, why is the liver palpated?
Enlarged in heart failure | Percussed to ensure downward displacement is not due to lung hyper-expansion
347
Why is it useful to auscultate between scapulae in a CV exam?
Listen for coarctation
348
What heart sounds may be heard on CV exam?
1st - may be normally split 2nd - normally split (wider on inspiration) 3rd - normal in some 4th - always abnormal
349
How should murmurs be assessed/recorded?
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
How is a blood pressure cuff measured?
Cuff size two-thirds the length of the outer aspect of the upper arm or thigh
351
Give 4 features of an innocent murmur
``` Asymptomatic No thrill/heave Soft systolic murmur Varies with position Localised to one area ```
352
Name 4 acyanotic congenital heart lesions
``` VSD Pulmonary stenosis ASD Coarctation of the aorta PDA ```
353
Name 3 cyanotic congenital heart lesions
Tetralogy of Fallot Transposition of the great arteries Tricuspid atresia Pulmonary atresia
354
Give 3 causes of cyanosis
``` Respiratory Cardiac Seizure Stress (infection, hypoglycaemia, adrenal crises) CNS depression (drugs, trauma, asphyxia) ```
355
Give 3 cardiac causes of cyanosis
Neonatal - TGA, persistent hypertension of the newborn, pulmonary atresia, hypoplastic left heart syndrome Infant - ToF Child - pulmonary HTN
356
Give 3 common causes of cardiac failure
Cardiac - PSA, hypoplastic left heart, coarctation, cardiomyopathy, critical aortic stenosis, ASD, VSD Stress - fever, hypoxia, infection, acidosis Anaemia Fluid overload
357
What chromosomal abnormality is associated with aortic stenosis, coarctation of aorta and bicuspid aortic valve?
Turner's syndrome
358
What chromosomal abnormality is associated with atrioventricular septal defect, VSD, ASD and tetralogy of Fallot?
Down's syndrome
359
What chromosomal abnormality is associated with conotruncal abnormalities?
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
What types of atrial septal defect are there?
``` Patent foramen ovale Ostium secundum defect Ostium primum defect Sinus venosus defect Coronary sinus defect ```
361
Where would an ostium primun defect be found?
Crux of the heart - middle between atria and ventricles
362
Where would an ostium secundum defect be found?
Centre of atrial septum
363
What is the timeline of atrial septal defect?
Asymptomatic in childhood, picked up as incidental murmur -> SOB and arrhythmia later in life
364
How is atrial septal defect treated? What is its prognosis?
Primum/secundum - surgical repair Secundum only - transcatheter device closure Good long term prognosis
365
How are VSDs classified?
Membranous or muscular | Small, moderate or large
366
How are VSDs treated?
Small will spontaneously close | Large will be repaired in first 6 months of life
367
What problems are caused by VSD?
Left ventricular overload Increased pulmonary blood flow Cardiac failure
368
What is PDA associated with?
Prematurity | Rubella
369
Give 2 examination findings in PDA
Bounding femoral pulses | Continuous subclavicular murmur
370
What problems are caused by PDA?
Heart failure | Failure to thrive
371
How is PDA treated?
Neonates - NSAIDs, surgical ligation | Older - device occlusion by cardiac catheter
372
How does coarctation present?
Neonates - collapse, cardiac failure, weak/absent femoral pulses Older - HTN, radio-femoral delay
373
What x-ray features may be seen in coarcation?
Cardiomegaly | Rib notching
374
How is coarctation treated?
Younger - surgery | Older - balloon stent
375
What is the commonest neonatal cyanotic cardiac condition?
TGA
376
How is TGA treated?
Prostaglandins or balloon atrial septostomy - keep PDA to allow mixing of separate circulations Definitive - arterial switch
377
What x-ray feature may be present in TGA?
Egg on string
378
What are the components of tetralogy of Fallot
VSD Right ventricular outflow tract obstruction Overriding aorta Right ventricular hypertrophy
379
In what congenital cardiac condition is polycythaemia characteristic?
ToF
380
What x-ray feature may be present in ToF?
Boot shaped heart with upturned apex
381
How does endocarditis present?
``` Fever Malaise Weight loss Arthralgia Haematuria Splenomegaly Splinter haemorrhages ```
382
How does endocarditis present?
``` Fever Malaise Weight loss Arthralgia Haematuria Splenomegaly Splinter haemorrhages ```
383
Give 3 causes of hepatomegaly
``` Infection - viral, bacterial, fungal, parasitic Congestive cardiac failure Infiltration - neuroblastoma Storage - CF, glycogen storage disease Idiopathic ```
384
Give 3 causes of splenomegaly
``` Malaria Sickle cell Hereditary spherocytosis Thalassaemia Portal HTN Neoplasm ```
385
Give 3 causes of hepatosplenomegaly
``` EBV CMV Portal HTN Leukaemia Lymphoma Thalassaemia Idiopathic ```
386
Give 3 problems caused by reflux
``` Vomiting Distress Apnoea Failure to thrive Aspiration pneumonia ```
387
How much should neonates be feeding for the first few months of their lives?
150ml//kg/day
388
How is reflux treated?
Antacids Omeprazole (Ranitidine)
389
Give 4 causes of rectal bleeding
``` Anal fissure Swallowed blood Gastroenteritis Hiatus hernia Peptic ulcer Meckel's diverticulum Intussusception IBD ```
390
Give 3 risk factors for IBD
``` FH IBD FH thyroid disease/RA Parental smoking Bottle feeding Peri-anal signs ```
391
Give 3 causes of haematemesis
``` Swallowed blood Repeated vomiting Acute gastritis Hiatus hernia Drugs (aspirin, iron) Peptic ulcer Bleeding disorder Oesophageal varices ```
392
What are the signs/symptoms of coeliac disease in infants
Pale and bulky stool Distended abdomen Wasted buttocks
393
What test is used for coeliac disease?
Tissue transglutaminase (TTG-IgA)
394
When is duodenal mucosal biopsy required to diagnose coeliac disease? What will it show?
Patients who have moderately elevated TTG Villous atrophy Crypt hyperplasia Increased intraepithelial lymphocytosis
395
Give 3 causes of acute diarrhoea
``` Rotavirus/enterovirus E.coli/salmonella/campylobacter Staphylococcal toxin (food poisoning) Pneumonia (response to infection) Starvation Intussusception/pelvic appendicitis/Hirschprung's ```
396
Give 3 causes of chronic diarrhoea
``` Toddler's diarrhoea Constipation with overflow Post infectious food intolerance IBD Malabsorption (CF, IBD) ```
397
How is chronic diarrhoea investigated?
``` Stool - culture and sensitivity, C.diff toxin, virology Bloods - FBC, CRP, LFTs, ESR Serum TTG Faecal calprotectin Peri-anal inspection ```
398
Give 3 medical and 3 surgical causes of acute abdominal pain
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
What virus is responsible for 60% of gastroenteritis cases in <2 year olds, especially in winter?
Rotavirus
400
How is gastroenteritis managed?
Rule out surgical/other causes | Assess and manage dehydration - ORS/IV fluids
401
Give 5 clinical signs of dehydration
``` Dry mucous membranes Sunken fontanelles Depressed level of consciousness Sunken eyes Tachypnoea Tachycardia Prolonged CRT Decreased skin turgor Weight loss Oliguria ```
402
How long can viral gastroenteritis last?
2-10 days
403
What questions should be asked in the history of a bruised child?
``` 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
What features should be looked for on examination of a bruised child?
``` 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
What investigations should be done in a bruised child?
FBC Coagulation Other tests depend on examination findings
406
What further investigations/initial management should be done in a bruised child with sepsis?
Blood cultures Infection screen IV antibiotics
407
What further investigations/initial management should be done in a bruised child with major haemorrhage?
Crossmatch Identify source and stop bleeding Administer volume expanders Correct DIC/thrombocytopaenia
408
What further investigations/initial management should be done in a bruised child with DIC?
Blood cultures ``` Antibiotics Fluids Inotropic support Ventilation Correct coagulopathy ```
409
What further investigations should be done in a bruised child with a suspected hereditary coagulation disorder?
Clotting factor assay | Platelet aggregation studies
410
What further investigations should be done in a bruised child with suspected acquired haematological condition (e.g. HSP)?
BP Urinalysis Abdominal USS
411
What further investigations should be done in a bruised child in which NAI is suspected?
Skeletal survey CT (<1 year old) Retinoscopy
412
Give 4 causes of low/abnormal platelets
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
How does ITP present?
``` 1-5 years old Platelets <20 Acute onset bruising/petechiae Epistaxis following viral illness in clinically well child No atypical features on exam ```
414
When would a bone marrow aspirate be indicated in suspected ITP and what would it show?
If atypical signs present or failure to resolve spontaneously Normal megakaryocyte number (peripheral destruction by platelet antibodies)
415
What are the complications of ITP?
Intracranial haemorrhage | Chronic ITP
416
How long does ITP take to resolve?
90% by 6 months
417
How is ITP managed?
Careful observation and avoidance of high impact activities Platelet transfusion if bleeding (will be destroyed rapidly) IVIG Consider steroids (consult haematologist) or splenectomy
418
What is ITP?
Immune thrombocytopaenic purpura - a bleeding disorder in which the immune system destroys platelets, reducing the ability to form clots
419
What is HSP?
Vasculitis caused by deposition of IgA containing immune complexes in capillaries, arterioles and venules
420
How does HSP present?
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
What investigations should be done in suspected HSP?
``` No specific diagnostic test FBC, CRP, ESR Urinalysis BP, abdominal USS Renal/skin biopsy - IgA deposition ```
422
What is the prognosis of HSP?
Usually spontaneously resolves but can recur in young children
423
How is HSP managed?
Supportive - analgesia, monitor renal function/urinalysis/BP, monitor for intussusception
424
Give 4 risk factors for IDA
``` Premature LBW Multiple births Exclusive breastfeeding >6 months Delayed weaning Excessive cow's milk Adolescent female Social deprivation Strict vegan diet ```
425
How is IDA treated?
Iron supplements Iron rich diet Vitamin C (increases absorption) Continue treatment for 3 months after Hb normalises
426
What causes leukaemia?
Ionising radiation | Genetic predisposition - Trisomy 21, Fanconi's anaemia
427
What is the most common type of leukaemia in children?
Acute lymphoblastic leukaemia (ALL)
428
How does leukaemia present?
``` BMF - anaemia, pallor, dyspnoea, increased infection, bruising, epistaxis Bone pain/limp Hepatosplenomegaly Lymphadenopathy Testicular enlargement Cranial nerve palsies Meningism ```
429
How is leukaemia diagnosed?
``` FBC Blood film BM aspirate LP Coagulation U&Es LDH CXR ```
430
Give 3 poor prognostic factors for leukaemia
``` Age <1 or >10 Male T cell lineage WCC >50 at presentation Philadelphia chromosome t(9,22) Failure to rapidly respond to chemotherapy ```
431
How is leukaemia treated?
Multi drug chemotherapy | +/- radiotherapy/bone marrow transplant
432
Name 2 inherited clotting disorders
Haemophilia | Von Willebrand's disease
433
What factor is deficient in haemophilia A?
Factor 8
434
What factor is deficient in haemophilia B?
Factor 9
435
How is haemophilia diagnosed and treated?
Diagnosed - isolated prolonged APTT, specific factor deficiency Treatment - recombinant factor administration IV
436
What is Von Willebrand's disease?
Mostly AD deficiency or abnormality of factor 8 causing reduced platelet adhesion
437
How is VWD diagnosed?
Prolonged APTT Reduced factor 8 No platelet aggregation on Rostocetin co factor assay
438
How is VWD treated?
Desmopressin prophylaxis or recombinant factor 8 for bleeding episodes
439
What questions should be asked in the history of a patient with lymphadenopathy?
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
How should lymphadenopathy be examined?
``` Site Size and number Tenderness Overlying skin changes Fluctuance ```
441
Give 3 features suggestive of malignancy in a patient with lymphadenopathy
``` Supraclavicular or epitrochlear site Associated systemic symptoms Hepatosplenomegaly Other palpable masses Signs of BM infiltration (anaemia, bruising) ```
442
Give 3 malignant causes of lymphadenopathy
``` ALL, AML Lymphoma Hodgkin's disease Neuroblastoma Rhabdomyosarcoma ```
443
Give 3 infectious causes of lymphadenopathy
``` Bacterial lymphadenitis (staph, strep) Viral (URTI, EBV, CMV, HIV, ZVZ) Cat scratch disease (Bartonella henselae) TB Atypical mycobacterium ```
444
Give 3 autoimmune causes of lymphadenopathy
``` Kawasaki's disease JIA SLE Sarcoidosis Drug reaction ```
445
What investigations may be carried out for lymphadenopathy (depending on history and exam findings)?
``` Bloods - FBC and film, ESR, CRP, blood cultures Virology - throat swab, serology Mantoux test Radiology - CXR, USS, CT Surgical - lymph node biopsy ```

Year 5 (10 decks)

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