Pathology Part 1 Flashcards
(273 cards)
1
Q
Achondroplasia
A
An autosomal dominant disorder associated with short stature. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene.
2
Q
Features of Achondroplasia
A
> Short limbs with shortened fingers > Large head with frontal bossing > Narrow foramen magnum > Midface hypoplasia with a flattened nasal bridge > 'Trident' hands > Lumbar lordosis
3
Q
Rhizomelia
A
Short limbs
4
Q
Brachydactyly
A
Shortened fingers
5
Q
Risk factors for Achondroplasia
A
Advancing parental age at the time of conception
6
Q
Treatment for Achondroplasia
A
No specific therapy
Some individuals benefit from limb lengthening procedures - involves application of Ilizarov frames and targeted bone fractures
7
Q
Acute epiglottitis
A
Acute epiglottitis is rare but serious infection characterized by swelling and inflammation of the epiglottis.
8
Q
What is the main cause of Acute epiglottitis?
A
Haemophilus influenzae type B
9
Q
What vaccine has a caused a decrease in Acute epiglottitis?
A
Haemophilus influenzae type B vaccine (HiB vaccine)
10
Q
Features of Acute epiglottitis
A
- rapid onset
- high temperature, generally unwell
- stridor
- drooling of saliva
- ‘tripod’ position: the patient finds it easier to breathe if they are leaning forward and extending their neck in a seated position
11
Q
Stridor
A
A high-pitched sound that is heard best with inspiration. Caused by an obstruction or narrowing in upper airway.
12
Q
Diagnosis of Acute epiglottitis
A
Direct visualization (only by senior/airway trained staff)
13
Q
Why is acute epiglottitis only examined by senior/airway trained staff?
A
Due to the risk of acute airway obstruction
14
Q
Treatment of Acute epiglottitis
A
- Immediate senior involvement
- endotracheal intubation to protect the airway
- Oxygen therapy
- Intravenous antibiotics
15
Q
Acute lymphoblastic leukaemia
A
The most common malignancy affecting children and accounts for 80% of childhood leukaemias.
16
Q
Features of Acute lymphoblastic leukaemia
A
Features of bone marrow failure:
- anaemia: lethargy and pallor
- neutropaenia: frequent or severe infections
- thrombocytopenia: easy bruising, petechiae
17
Q
Additional features of Acute lymphoblastic leukaemia besides bone marrow failure
A
> bone pain > splenomegaly > hepatomegaly > fever is present in up to 50% of new cases > testicular swelling
18
Q
Why is fever a presenting feature in up to 50% of new cases of Acute lymphoblastic leukaemia?
A
Represents infection or constitutional symptom
19
Q
Poor prognostic factors for Acute lymphoblastic leukaemia
A
- age < 2 years or > 10 years
- WBC > 20 * 109/l at diagnosis
- T or B cell surface markers
- non-Caucasian
- male sex
20
Q
What age does testicular torsion usually occur?
A
Most common around puberty
21
Q
What age does irreducible inguinal hernia usually occur?
A
Most common in children < 2 years old
22
Q
What age does epididymitis usually occur?
A
Rare in prepubescent children
23
Q
Alpha-thalassaemia
A
Inherited condition which causes a deficiency of alpha chains in haemoglobin
24
Q
What is the sex determining gene present on the Y chromosome?
A
SRY gene - which causes differentiation of the gonad into a testis
25
What happens if the SRY gene is absent on the Y chromosome?
If absent (i.e. in a female) then the gonads differentiate to become ovaries
26
What is the most common cause of Ambiguous genitalia in newborns?
Congenital adrenal hyperplasia
27
Apgar score
Used to assess the health of a newborn baby
28
What are the categories present in the APGAR score?
```
Pulse
Respiratory effect
Colour
Muscle tone
Reflex irritability
```
29
Acute appendicitis features
1. Central abdominal pain - radiates to the right iliac fossa
2. Low-grade pyrexia
3. Minimal vomiting
30
What age group is acute appendicitis uncommon?
Under 4 years old but in this group often presents with perforation
31
Features of severe asthma attack in children
```
> SpO2 < 92%
> PEF 33-50% best or predicted
> Too breathless to talk or feed
> HR over 125 (>5 years)
> HR over 140 (1-5 years)
> RR over 30 breaths/min (>5 years)
> RR over 40 (1-5 years)
> Use of accessory neck muscles
```
32
Features of Life-threatening asthma attack in children
```
> SpO2 <92%
> PEF <33% best or predicted
> Silent chest
> Poor respiratory effort
> Agitation
> Altered consciousness
> Cyanosis
```
33
Features of Moderate asthma attack in children
> SpO2 > 92%
> No clinical features of severe asthma
> PEF > 50% best or predicted in children >5 years old
34
Management of severe/life-threatening asthma attack in children
Transferred immediately to hospital.
35
Management of mild/moderate asthma attacks in children
1. Give a beta-2 agonist via a spacer (for a child < 3 years use a close-fitting mask)
2. Give 1 puff every 30-60 seconds up to a maximum of 10 puffs
3. If symptoms are not controlled repeat beta-2 agonist and refer to hospital
4. Steroid therapy should be given to all children with an asthma exacerbation - should be given for 3-5 days
36
Asthma management of children 5 to 16 years old
1. Short-acting beta agonist (SABA)
2. SABA + paediatric low-dose ICS
3. SABA + paediatric low-dose ICS + (LTRA)
4. SABA + paediatric low-dose ICS + (LABA)
5. SABA + switch ICS/LABA to a MART, that includes a paediatric low-dose ICS
6. SABA + paediatric moderate-dose ICS + MART
37
Asthma management of children under 5 years old
1. Short-acting beta agonist (SABA)
2. SABA + an 8-week trial of paediatric MODERATE- (ICS)
3. SABA + paediatric low-dose ICS + (LTRA)
4. Stop the LTRA and refer to asthma specialist
38
What should be done after a child under 5 years old has been given a SABA + an 8-week trial of paediatric MODERATE-dose inhaled corticosteroid (ICS) for asthma management?
After 8-weeks stop the ICS and monitor the child's symptoms:
if symptoms did not resolve during the trial period, review whether an alternative diagnosis is likely
if symptoms resolved then reoccurred within 4 weeks of stopping ICS treatment, restart the ICS at a paediatric low dose as first-line maintenance therapy
if symptoms resolved but reoccurred beyond 4 weeks after stopping ICS treatment, repeat the 8‑week trial of a paediatric moderate dose of ICS
39
Maintenance and reliever therapy (MART)
A form of combined ICS and LABA treatment in which a single inhaler, containing both ICS and a fast-acting LABA, is used for both daily maintenance therapy and the relief of symptoms as required
40
What is a low dose paediatric ICS?
<= 200 micrograms budesonide or equivalent = paediatric low dose
41
What is a paediatric moderate dose ICS?
200 micrograms - 400 micrograms budesonide or equivalent = paediatric moderate dose
42
What is a paediatric high dose ICS?
> 400 micrograms budesonide or equivalent= paediatric high dose.
43
ADHD
DSM-V defines ADHD as a condition incorporating features relating to inattention and/or hyperactivity/impulsivity that are persistent. Like many paediatric conditions, there has to be an element of developmental delay.
44
Diagnosis of ADHD by DSM-V criteria
For children up to the age of 16 years, six of these features have to be present; in those aged 17 or over, the threshold is five features.
45
What are the symptoms of Inattention in ADHD?
Does not follow through on instructions
Reluctant to engage in mentally-intense tasks
Easily distracted
Finds it difficult to sustain tasks
Finds it difficult to organise tasks or activities
Often forgetful in daily activities
Often loses things necessary for tasks or activities
Often does not seem to listen when spoken to directly
46
What are the symptoms of Hyperactivity/Impulsivity in ADHD?
Unable to play quietly
Talks excessively
Does not wait their turn easily
Will spontaneously leave seat when expected to sit
Is often 'on the go'
Often interruptive or intrusive to others
Will answer before a question has been finished
WIll run & climb where not appropriate
47
When is drug therapy given in ADHD?
As a last resort and is only available to those aged 5 years or more.
48
Methylphenidate
Drug used in ADHD - A CNS stimulant which primarily acts as a dopamine/norepinephrine reuptake inhibitor.
49
Methylphenidate side effects
Abdominal pain, nausea and dyspepsia.
In children, weight and height should be monitored every 6 months
50
Drugs available for management of ADHD
Methylphenidate
Lisdexamfetamine
Dexamfetamine
51
What should be done before giving drug therapy in ADHD?
All of these drugs are potentially cardiotoxic.
Perform a baseline ECG before starting treatment, and refer to a cardiologist if there is any significant past medical history or family history, or any doubt or ambiguity.
52
Autism spectrum disorder (ASD)
A neurodevelopmental condition characterized by qualitative impairment in social interaction and communication as well as repetitive stereotyped behaviour, interests, and activities. Symptoms are usually present during early childhood, but may be manifested later.
53
Pharmacological interventions for Autism spectrum disorder
SSRIs: helpful to reduce symptoms like repetitive stereotyped behaviour, anxiety, and aggression
Antipsychotic drugs: useful to reduce symptoms like aggression, self-injury.
Methylphenidate: for attention deficit hyperactivity disorder (ADHD).
54
Biliary atresia
Involves either obliteration or discontinuity within the extrahepatic biliary system, which results in an obstruction in the flow of bile.
This results in a neonatal presentation of cholestasis in the first few weeks of life.
55
The three types of Biliary atresia
Type 1
Type 2
Type 3
56
Type 1 Biliary atresia
The proximal ducts are patent, however, the common duct is obliterated
57
Type 2 Biliary atresia
There is atresia of the cystic duct and cystic structures are found in the porta hepatis
58
Type 3 Biliary atresia
There is atresia of the left and right ducts to the level of the porta hepatis, this occurs in >90% of cases of biliary atresia
59
Symptoms of Biliary atresia
Patients typically present in the first few weeks of life with:
> Jaundice extending beyond the physiological two weeks
> Dark urine and pale stools
> Appetite and growth disturbance, however, may be normal in some cases
60
Complications of Biliary atresia
Unsuccessful anastomosis formation
Progressive liver disease
Cirrhosis with eventual hepatocellular carcinoma
61
Definitive management of Biliary atresia
Surgical intervention is the only definitive treatment
62
Investigations for Biliary atresia
```
Serum bilirubin
Liver function tests (LFTs)
Serum alpha 1-antitrypsin
Sweat chloride test
Ultrasound of the biliary tree and liver
Percutaneous liver biopsy with intraoperative cholangioscopy
```
63
Diagnostic markers for Biliary atresia
Total bilirubin may be normal, whereas conjugated bilirubin is abnormally high
Serum bile acids and aminotransferases are usually raised
Ultrasound of the biliary tree and liver: May show distension and tract abnormalities
64
Bronchiolitis
A condition characterised by acute bronchiolar inflammation. Respiratory syncytial virus (RSV) is the pathogen in 75-80% of cases.
65
Causative agent for Bronchiolitis
Respiratory syncytial virus (RSV)
66
Epidemiology of Bronchiolitis
> Most common cause of a serious LRT infection in < 1yr olds.
> Maternal IgG provides protection to newborns against RSV
> Higher incidence in winter
67
Symptoms of Bronchiolitis
> coryzal symptoms precede:
> dry cough
> increasing breathlessness
> wheezing, fine inspiratory crackles (not always present)
> feeding difficulties associated with increasing dyspnoea are often the reason for hospital admission
68
Symptoms requiring immediate referral to hospital (emergency).
1. apnoea (observed or reported)
2. child looks seriously unwell to a professional
3. severe respiratory distress, for example grunting, marked chest recession, or a respiratory rate of over 70 breaths/minute
4. central cyanosis
5. persistent oxygen saturation of less than 92%
69
Investigation for Bronchiolitis
immunofluorescence of nasopharyngeal secretions may show RSV
70
Management of Bronchiolitis
1. Humidified oxygen if the oxygen saturations are persistently < 92%
2. Nasogastric feeding if children cannot take enough fluid/feed by mouth
71
Caput succedaneum
Describes oedema of the scalp at the presenting part of the head, typically the vertex.
This may be due to mechanical trauma of the initial portion of the scalp pushing through the cervix in a prolonged delivery or secondary to the use of ventouse (vacuum) delivery
72
Caput succedaneum features
> Soft, puffy swelling due to localised oedema
> crosses suture lines
> Resolves within days
> Present at birth
73
Cephalohaematoma
Seen as a swelling on the newborns head. It typically develops several hours after delivery and is due to bleeding between the periosteum and skull.
74
How long does it take for a Cephalohaematoma to resolve?
Up to 3 months
75
Most common site for Cephalohaematoma
Parietal region
76
Difference in presentation of Cephalohaematoma and Caput succedaneum
Caput succedaneum - present at birth
| Cephalohaematoma - develops 2-3 hours after birth
77
Features of Cephalohaematoma
> Does not cross suture lines
> Takes months to resolve
> Develops several hours after birth
78
Cerebral palsy
May be defined as a disorder of movement and posture due to a non-progressive lesion of the motor pathways in the developing brain.
79
Causes of Cerebral palsy
Antenatal (80%): e.g. cerebral malformation and congenital infection (rubella, toxoplasmosis, CMV)
Intrapartum (10%): birth asphyxia/trauma
Postnatal (10%): intraventricular haemorrhage, meningitis, head-trauma
80
Cerebral palsy features
1. abnormal tone early infancy
2. delayed motor milestones
3. abnormal gait
4. feeding difficulties
5. learning difficulties (60%)
6. epilepsy (30%)
7. squints (30%)
8. hearing impairment (20%)
81
Chickenpox and Shingles
Chickenpox is caused by primary infection with varicella zoster virus.
Shingles is a reactivation of the dormant virus in dorsal root ganglion
82
Common complications of chickenpox
Secondary bacterial infection of the lesions
Whilst this commonly may manifest as a single infected lesion/small area of cellulitis, in a small number of patients invasive group A streptococcal soft tissue infections may occur resulting in necrotizing fasciitis
83
Complications (rare) for chickenpox
pneumonia
encephalitis
disseminated haemorrhagic chickenpox
arthritis, nephritis and pancreatitis
84
Chickenpox route of transmission
Spread via the respiratory route
Can be caught from someone with shingles
incubation period = 10-21 days
85
Infectivity period for Chicken pox
= 4 days before rash, until 5 days after the rash first appeared*
86
Features of chickenpox
1. fever initially
2. itchy, rash starting on head/trunk before spreading.
3. Initially macular then papular then vesicular
4. systemic upset is usually mild
87
Mumps
Fever, malaise, muscular pain
| Parotitis ('earache', 'pain on eating'): unilateral initially then becomes bilateral in 70%
88
Parotitis
Inflammation of parotid glands - earache and ‘pain on eating'
89
Rubella
Rash: pink maculopapular, initially on face before spreading to whole body,
usually fades by the 3-5 day
Lymphadenopathy: suboccipital and postauricular
90
Erythema infectiosum
Also known as fifth disease or 'slapped-cheek syndrome'
Caused by parvovirus B19
Lethargy, fever, headache
'Slapped-cheek' rash spreading to proximal arms and extensor surfaces
91
Hand, foot and mouth disease
Caused by the coxsackie A16 virus
Mild systemic upset: sore throat, fever
Vesicles in the mouth and on the palms and soles of the feet
92
Patau syndrome (trisomy 13)
Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions
93
Edward's syndrome (trisomy 18)
Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers
94
Micrognathia
A term for a lower jaw that is smaller than normal.
95
Microcephalic
A condition where a baby's head is much smaller than expected.
96
Macrocephaly
The measurement around the widest part of the head) that is greater than the 98th percentile on the growth chart.
97
Pierre-Robin syndrome
Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate
98
Prader-Willi syndrome
Hypotonia
Hypogonadism
Obesity
99
William's syndrome
```
Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis
```
100
Cause of Cleft Lip
Results from failure of the fronto-nasal and maxillary processes to fuse
101
Cause of Cleft palate
Results from failure of the palatine processes and the nasal septum to fuse
102
Most common congenital deformity affecting the orofacial structures
Cleft lip and palate
103
Management of cleft lip and palate
Cleft lip is repaired earlier than cleft palate
| Cleft palates are typically repaired between 6-12 months of age
104
Coeliac disease
Caused by sensitivity to the protein gluten. Repeated exposure leads to villous atrophy which in turn causes malabsorption. Children normally present before the age of 3 years, following the introduction of cereals into the diet
105
Coeliac disease
Caused by sensitivity to the protein gluten. Repeated exposure leads to villous atrophy which in turn causes malabsorption. Children normally present before the age of 3 years, following the introduction of cereals into the diet
106
Coeliac disease
Caused by sensitivity to the protein gluten. Repeated exposure leads to villous atrophy which in turn causes malabsorption.
107
Features of Coeliac disease in children
> failure to thrive
> diarrhoea
> abdominal distension
> older children may present with anaemia
> many cases are not diagnosed to adulthood
108
Diagnosis of Coeliac disease
Jejunal biopsy showing subtotal villous atrophy
anti-endomysial and anti-gliadin antibodies are useful screening tests
109
Antibodies in Coeliac disease
anti-endomysial and anti-gliadin antibodies
110
Antibodies in Coeliac disease
Anti-endomysial and anti-gliadin antibodies
111
Congenital diaphragmatic hernia
It is characterised by the herniation of abdominal viscera into the chest cavity due to incomplete formation of the diaphragm.
112
Pathophysiology of Congenital diaphragmatic hernia
Usually represents a failure of the pleuroperitoneal canal to close completely
113
The most common type of Congenital diaphragmatic hernia
Left-sided posterolateral Bochdalek hernia which accounts for around 85% of cases.
114
Cyanotic congenital heart disease examples
tetralogy of Fallot
transposition of the great arteries (TGA)
tricuspid atresia
115
Acyanotic congenital heart disease examples
```
ventricular septal defects (VSD) - most common, accounts for 30%
atrial septal defect (ASD)
patent ductus arteriosus (PDA)
coarctation of the aorta
aortic valve stenosis
```
116
What are the causes of the three major types of congenital infections?
Rubella, toxoplasmosis and cytomegalovirus
117
Cow's milk protein intolerance/allergy
Both immediate (IgE mediated) and delayed (non-IgE mediated) reactions are seen. The term CMPA is usually used for immediate reactions and CMPI for mild-moderate delayed reactions.
118
Features of Cow's milk protein intolerance/allergy
> regurgitation and vomiting
> diarrhoea
> urticaria, atopic eczema
> 'colic' symptoms: irritability, crying
> wheeze, chronic cough
> rarely angioedema and anaphylaxis may occur
119
Management of Cow's milk protein intolerance/allergy if child is formula fed
1. extensive hydrolysed formula (eHF) milk is the first-line replacement formula for infants with mild-moderate symptoms
2. amino acid-based formula (AAF) in infants with severe CMPA or if no response to eHF
120
Management of Cow's milk protein intolerance/allergy if child is breast fed
1. continue breastfeeding
2. eliminate cow's milk protein from maternal diet.
3. use eHF milk when breastfeeding stops, until 12 months of age and at least for 6 months
121
Croup
Upper respiratory tract infection seen in infants and toddlers. It is characterised by stridor which is caused by a combination of laryngeal oedema and secretions.
122
Causative agent for croup
Parainfluenza viruses account for the majority of cases.
123
Features of croup
1. stridor
2. barking cough (worse at night)
3. fever
4. coryzal symptoms
124
Management of Croup
Single dose of oral dexamethasone (0.15mg/kg) to all children regardless of severity
Prednisolone is an alternative if dexamethasone is not available
125
Mild croup features
Occasional barking cough
No audible stridor at rest
No or mild suprasternal and/or intercostal recession
The child is happy and is prepared to eat, drink, and play
126
Moderate croup features
Frequent barking cough
Easily audible stridor at rest
Suprasternal and sternal wall retraction at rest
No or little distress or agitation
The child can be placated and is interested in its surroundings
127
Severe croup features
Frequent barking cough
Prominent inspiratory stridor at rest
Marked sternal wall retractions
Significant distress and agitation, or lethargy or restlessness (a sign of hypoxaemia)
Tachycardia occurs with more severe obstructive symptoms and hypoxaemia
128
Criteria for immediate referral to hospital for croup
1. < 6 months of age
2. Known upper airway abnormalities (e.g. Laryngomalacia, Down's syndrome)
3. Uncertainty about diagnosis (important differentials include acute epiglottitis, bacterial tracheitis, peritonsillar abscess and foreign body inhalation)
129
Cystic fibrosis (CF)
An autosomal recessive disorder causing increased viscosity of secretions (e.g. lungs and pancreas). It is due to a defect in the cystic fibrosis transmembrane conductance regulator gene (CFTR), which codes a cAMP-regulated chloride channel
130
Organisms which may colonise CF patients
Staphylococcus aureus
Pseudomonas aeruginosa
Burkholderia cepacia*
Aspergillus
131
Diagnosis of CF
Patient's with CF have abnormally high sweat chloride
Normal value < 40 mEq/l, CF indicated by > 60 mEq/l
132
Common features of CF
1. Neonatal period (around 20%): meconium ileus,
2. Prolonged jaundice
3. Recurrent chest infections (40%)
4. Malabsorption (30%): steatorrhoea, failure to thrive
5. Other features (10%): liver disease
133
Management of CF
> Chest physiotherapy and postural drainage.
> High calorie diet, including high fat intake*
> Minimise contact with other CF patients
> Vitamin supplementation
> Pancreatic enzyme supplements taken with meals
> Lung transplantion
134
Developmental referral points
1. doesn't smile at 10 weeks
2. cannot sit unsupported at 12 months
3. cannot walk at 18 months
135
Risk factors for Developmental dysplasia of the hip
```
female sex: 6 times greater risk
breech presentation
positive family history
firstborn children
oligohydramnios
birth weight > 5 kg
congenital calcaneovalgus foot deformity
```
136
Screening for Developmental dysplasia of the hip
The following infants require a routine ultrasound examination
> first-degree family history of hip problems
> breech presentation at or after 36 weeks gestation
> multiple pregnancy
137
Barlow test
attempts to dislocate an articulated femoral head
138
Ortolani test
attempts to relocate a dislocated femoral head
139
Clinical diagnosis of DDH
Barlow test
Ortolani test
Symmetry of leg length
Level of knees when hips and knees are bilaterally flexed
Restricted abduction of the hip in flexion
140
Imaging of DDH
Ultrasound is generally used to confirm the diagnosis if clinically suspected
Infant is > 4.5 months then x-ray is the first line investigation
141
Management of DDH
> Most spontaneously stabilise by 3-6 weeks of age
> Pavlik harness in children younger than 4-5 months
> older children may require surgery
142
Developmental milestones: fine motor and vision at 3 months
Reaches for object
Holds rattle briefly if given to hand
Visually alert, particularly human faces
Fixes and follows to 180 degrees
143
Developmental milestones: fine motor and vision at 6 months
Holds in palmar grasp
Pass objects from one hand to another
Visually insatiable, looking around in every direction
144
Developmental milestones: fine motor and vision at 9 months
Points with finger
| Early pincer
145
Developmental milestones: fine motor and vision at 12 months
Good pincer grip
| Bangs toys together
146
Tower of 2
15 months
147
Tower of 3
18 months
148
Tower of 6
2 years
149
Tower of 9
3 years
150
Circular scribble
18 months
151
Copies vertical line
2 years
152
Copies circle
3 years
153
Copies cross
4 years
154
Copies triangle and square
5 years
155
Looks at book, pats page
15 months
156
Turns pages, several at time
18 months
157
Turns pages, one at time
2 years
158
Reaches for object
Holds rattle briefly if given to hand
Visually alert, particularly human faces
Fixes and follows to 180 degrees
3 months
159
Holds in palmar grasp
Pass objects from one hand to another
Visually insatiable, looking around in every direction
6 months
160
Points with finger
| Early pincer
9 months
161
Good pincer grip
| Bangs toys together
12 months
162
Little or no head lag on being pulled to sit
Lying on abdomen, good head control
Held sitting, lumbar curve
3 months
163
```
Lying on abdomen, arms extended
Lying on back, lifts and grasps feet
Pulls self to sitting
Held sitting, back straight
Rolls front to back
```
6 months
164
Sits without support (Refer at 12 months)
7-8 months
165
Pulls to standing
| Crawls
9 months
166
Cruises
| Walks with one hand held
12 months
167
Walks unsupported (Refer at 18 months)
13-15 months
168
Squats to pick up a toy
18 months
169
Runs
| Walks upstairs and downstairs holding on to rail
2 years
170
Rides a tricycle using pedals
| Walks up stairs without holding on to rail
3 years
171
Hops on one leg
4 years
172
Smiles (Refer at 10 weeks)
6 weeks
173
Laughs
| Enjoys friendly handling
3 months
174
Not shy
6 months
175
Shy
| Takes everything to mouth
9 months
176
May put hand on bottle when being fed
6 months
177
Drinks from cup + uses spoon, develops over 3 month period
12-15 months
178
Competent with spoon, doesn't spill with cup
2 years
179
Uses knife and fork
5 years
180
Helps getting dressed/undressed
12-15 months
181
Takes off shoes, hat but unable to replace
18 months
182
Puts on hat and shoes
2 years
183
Can dress and undress independently except for laces and buttons
4 years
184
Quietens to parents voice
Turns towards sound
Squeals
3 months
185
Double syllables 'adah', 'erleh'
6 months
186
Says 'mama' and 'dada'
| Understands 'no'
9 months
187
Knows and responds to own name
12 months
188
Knows about 2-6 words (Refer at 18 months)
| Understands simple commands - 'give it to mummy'
12-15 months
189
Combine two words
| Points to parts of the body
2 yeares
190
Vocabulary of 200 words
2.5 years
191
Talks in short sentences (e.g. 3-5 words)
Asks 'what' and 'who' questions
Identifies colours
Counts to 10 (little appreciation of numbers though)
3 years
192
Asks 'why', 'when' and 'how' questions
4 years
193
The most common cause of gastroenteritis in children in the UK
Rotavirus
194
Clinical shock
```
Decreased level of consciousness
Cold extremities
Pale or mottled skin
Tachycardia
Tachypnoea
Weak peripheral pulses
Prolonged capillary refill time
Hypotension
```
195
Clinical dehydration management
1. Give 50 ml/kg low osmolarity oral rehydration solution (ORS) solution over 4 hours, plus ORS solution for maintenance, often and in small amounts
2. continue breastfeeding
3. consider supplementing with usual fluids
196
Gastroenteritis
> main risk is severe dehydration
> most common cause is rotavirus
> The diarrhoea may last up to a week
> treatment is rehydration
197
Most common cause for chronic diarrhoea
Cows' milk intolerance
198
Toddler diarrhoea:
Stools vary in consistency, often contain undigested food
199
Causes for chronic diarrhoea in children
> Cows' milk intolerance
> Toddler diarrhoea
> Coeliac disease
> Post-gastroenteritis lactose intolerance
200
Clinical features of Down's syndrome
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Upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, protruding tongue,
Small low-set ears, round/flat face
Flat occiput
Single palmar crease,
Hypotonia
Congenital heart defects
Duodenal atresia
Hirschsprung's disease
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201
Duchenne muscular dystrophy
> progressive proximal muscle weakness from 5 years
> calf pseudohypertrophy
> Gower's sign
> associated with dilated cardiomyopathy
> 30% of patients have intellectual impairment
202
Ebstein's anomaly
A congenital heart defect characterised by low insertion of the tricuspid valve resulting in a large atrium and small ventricle. It is sometimes referred to as 'atrialisation' of the right ventricle.
203
Cause of Ebstein's anomaly
Exposure to lithium in-utero
204
Ebstein's anomaly features
1. cyanosis
2. prominent 'a' wave in the distended jugular venous
3. hepatomegaly
4. tricuspid regurgitation
5. pansystolic murmur, worse on inspiration
6. right bundle branch block → widely split S1 and S2
205
Features of Eczema in children
> Infants the face and trunk often affected
> Younger children - extensor surfaces
> Older children - flexor surfaces, creases face/neck
206
Epstein's pearl
A congenital cyst found in the mouth commonly on hard palate, but may be seen on gums where mistaken it for a tooth. No treatment as they tend to spontaneously resolve over the course of a few weeks.
207
Febrile convulsions
Seizures provoked by fever in otherwise normal children.
208
What age does Febrile convulsions usually affect?
6 months and 5 years
209
Features of Febrile convulsions
1. Occur early in a viral infection as the temperature rises rapidly
2. seizures are usually brief, lasting <5 minutes
3. are most commonly tonic-clonic
210
Management following a seizure
Children who have had a first seizure OR any features of a complex seizure should be admitted to paediatrics
211
Simple seizure
< 15 minutes
Generalised seizure
Typically no recurrence within 24 hours
Should be complete recovery within an hour
212
Complex seizure
15 - 30 minutes
Focal seizure
May have repeat seizures within 24 hours
213
Febrile status epilepticus
> 30 minutes seizure
214
Fraser guidelines
Used to assess if patient who has not yet reached 16 years of age is competent to consent to treatment, for example with respect to contraception
215
Risk factors for GORD in children
preterm delivery
| neurological disorders
216
Features of GORD in children
typically develops before 8 weeks
| vomiting/regurgitation following feeds
217
Complications of GORD in children
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distress
failure to thrive
aspiration
frequent otitis media
in older children dental erosion may occur
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218
Examples of congenital visceral malformations.
Gastroschisis and exomphalos
219
Gastroschisis
Describes a congenital defect in the anterior abdominal wall just lateral to the umbilical cord.
220
Exomphalos
Also known as an omphalocoele - the abdominal contents protrude through the anterior abdominal wall but are covered in an amniotic sac formed by amniotic membrane and peritoneum.
221
Management of Exomphalos
C section is indicated to reduce the risk of sac rupture
A staged repair may be undertaken as primary closure may be difficult due to lack of space/high intra-abdominal pressure
222
Growing pains
Pain presentations, in the absence of any worrying features, are often attributed to 'growing pains'
223
Haemorrhagic disease of the newborn (HDN).
Newborn babies are relatively deficient in vitamin K. This may result in impaired production of clotting factors which in turn can lead to haemorrhagic disease of the newborn (HDN).
224
What is a risk factor for developing Haemorrhagic disease of the newborn (HDN)?
Maternal use of antiepileptics
225
What action is taken to reduce the incidence of Haemorrhagic disease of the newborn (HDN)?
All newborns in the UK are offered vitamin K, either intramuscularly or orally
226
Hand, foot and mouth disease
A self-limiting condition affecting children. Caused by the intestinal viruses of the Picornaviridae family (most commonly coxsackie A16 and enterovirus 71).
227
Clinical features of Hand, foot and mouth disease
1. mild systemic upset: sore throat, fever
2. oral ulcers
3. followed later by vesicles on the palms and soles of the feet
228
Management of Hand, foot and mouth disease
Symptomatic treatment only: hydration and analgesia
Children do not need to be excluded from school
229
Head lice treatment
Treatment is only indicated if living lice are found
Choice of treatments - malathion, wet combing, dimeticone, isopropyl myristate and cyclomethicone
230
Most common cause of primary headache in children
Migraine without aura
231
Migraine management in children
Ibuprofen>paracetamol for pediatric migraine
| Triptans in children >= 12 years but follow-up is required
232
Second most common cause of headache in children
Tension-type headache
233
Diagnosis of Migraine
A >= 5 attacks fulfilling features B to D
B Headache attack lasting 4-72 hours
C Headache has at least two of the following four features:
> bilateral or unilateral (frontal/temporal) location
> pulsating quality
> moderate to severe intensity
> aggravated by routine physical activity
D At least one of the following accompanies headache:
> nausea and/or vomiting
> photophobia and phonophobia
234
Diagnosis of Tension-type headache
A At least 10 previous headache episodes fulfilling features B to D
B Headache lasting from 30 minutes to 7 days
C At least two of the following pain characteristics:
> pressing/tightening (non/pulsating) quality
> mild or moderate intensity
> bilateral location
> no aggravation by routine physical activity
D Both of the following:
> no nausea or vomiting
> photophobia and phonophobia, or one, but not the other is present
235
Otoacoustic emission test
Hearing test for the newborn
236
Hearing test for newborns
Otoacoustic emission test
237
Newborn & infants hearing test
Auditory Brainstem Response test
238
Auditory Brainstem Response test
Newborn & infants hearing test
239
Distraction test
Hearing test in 6-9 month olds
240
Hearing test in 6-9 month olds
Distraction test
241
Hearing test in 18 months-2 years olds
Recognition of familiar objects
242
Recognition of familiar objects
Hearing test in 18 months-2 years olds
243
Pure tone audiometry
Hearing test for >3 year olds
244
Hearing test for >3 year olds
Pure tone audiometry
245
Pathophysiology of Hirschsprung's disease
Parasympathetic neuroblasts fail to migrate from the neural crest to the distal colon → developmental failure of the parasympathetic Auerbach and Meissner plexuses → uncoordinated peristalsis → functional obstruction
246
Hirschsprung's disease
Caused by an aganglionic segment of bowel due to a developmental failure of the parasympathetic Auerbach and Meissner plexuses.
247
What conditions are associated with Hirschsprung's disease?
3 times more common in males
| Down's syndrome
248
Features of Hirschsprung's disease
neonatal period e.g. failure or delay to pass meconium
| older children: constipation, abdominal distension
249
Investigations in Hirschsprung's disease
abdominal x-ray
| rectal biopsy: gold standard for diagnosis
250
Management of Hirschsprung's disease
initially: rectal washouts/bowel irrigation
| definitive management: surgery to affected segment of the colon
251
Gold standard for diagnosis of Hirschsprung's disease
Rectal biopsy
252
Definitive management of Hirschsprung's disease
Surgery to affected segment of the colon
253
Hypospadias
A congenital abnormality of the penis where urethra is not present at tip of penis - which occurs in approximately 3/1,000 male infants.
254
Hypospadias features
> a ventral urethral meatus
> a hooded prepuce
> chordee (ventral curvature of the penis) in more severe forms
> the urethral meatus may open more proximally in the more severe variants.
255
Hypospadias management
Corrective surgery around 12 months of age
256
Most common cause of hypothyroidism in children
Autoimmune thyroiditis
257
Immune (or idiopathic) thrombocytopenic purpura (ITP)
An immune-mediated reduction in the platelet count. Antibodies are directed against the glycoprotein IIb/IIIa or Ib-V-IX complex.
258
Features of Immune (or idiopathic) thrombocytopenic purpura (ITP) in children
> Typically more acute than in adults
> May follow an infection or vaccination
> Self-limiting course over 1-2 weeks
259
Contraindications to live vaccines
pregnancy
| immunosuppression
260
Situations where vaccines should be delayed
febrile illness/intercurrent infection
261
General contraindications to immunisation
Confirmed anaphylactic reaction to a previous dose of a vaccine containing the same antigens
Confirmed anaphylactic reaction to another component contained in the relevant vaccine (e.g. egg protein)
262
What vaccine is given at birth?
BCG should be given if the baby is deemed at risk of tuberculosis (e.g. Tuberculosis in the family in the past 6 months).
263
What vaccines are given at 2 months?
'6-1 vaccine' (diphtheria, tetanus, whooping cough, polio, Hib and hepatitis B)
Oral rotavirus vaccine
Men B
264
The 6-1 vaccine
Contains diphtheria, tetanus, whooping cough, polio, Hib and hepatitis B
265
What vaccines is given at 3 months?
'6-1 vaccine' (diphtheria, tetanus, whooping cough, polio, Hib and hepatitis B)
Oral rotavirus vaccine
PCV
266
What vaccines is given at 4 months?
'6-1 vaccine' (diphtheria, tetanus, whooping cough, polio, Hib and hepatitis B)
Men B
267
What vaccines is given at 12-13 months?
Hib/Men C
MMR
PCV
Men B
268
What vaccines is given at 3-4 years?
'4-in-1 pre-school booster' (diphtheria, tetanus, whooping cough and polio)
MMR
269
What vaccine is given at 12-13 years?
HPV vaccination
270
What vaccines are given at 13-18 years?
3-in-1 teenage booster' (tetanus, diphtheria and polio)
| Men ACWY
271
3-in-1 teenage booster
Contains tetanus, diphtheria and polio
272
MMR
Measles, Mumps, Rubella vaccine
273
Men ACWY
Meningococcal vaccine covering A, C, W and Y serotypes
