Paediatrics Flashcards

(851 cards)

1
Q

What percentage of children are affected by eczema?

A

15-20%

Eczema is becoming more common among children.

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2
Q

At what age does eczema typically present?

A

Before 2 years

Around 50% of children clear eczema by 5 years of age.

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3
Q

What percentage of children clear eczema by 10 years of age?

A

75%

This indicates a significant improvement as children grow older.

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4
Q

List the features of eczema.

A
  • Itchy, erythematous rash
  • Repeated scratching may exacerbate affected areas
  • In infants, the face and trunk are often affected
  • In younger children, eczema often occurs on the extensor surfaces
  • In older children, flexor surfaces and creases of the face and neck are affected

These features help in identifying eczema in children.

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5
Q

What should be avoided in the management of eczema?

A

Irritants

Avoiding irritants is crucial for effective management.

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6
Q

What is the recommended amount of simple emollients to be prescribed for eczema?

A

250g / week

Emollients should be prescribed in a ratio of 10:1 with topical steroids.

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7
Q

When using topical steroids, how should emollients be applied?

A

Emollient first, wait 30 minutes before topical steroid

This ensures better absorption and effectiveness.

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8
Q

Which type of cream soaks into the skin faster: creams or ointments?

A

Creams

This can influence the choice of formulation for treatment.

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9
Q

How can emollients become contaminated?

A

Fingers inserted into pots

Many brands offer pump dispensers to prevent contamination.

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10
Q

What is wet wrapping in the context of eczema management?

A

Large amounts of emollient (and sometimes topical steroids) applied under wet bandages

This method can enhance the effectiveness of the treatment.

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11
Q

In severe cases of eczema, what medication may be used?

A

Oral ciclosporin

This is typically reserved for more severe cases.

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12
Q

What is scarlet fever a reaction to?

A

Erythrogenic toxins produced by Group A haemolytic streptococci (usually Streptococcus pyogenes)

It is more common in children aged 2 - 6 years, with peak incidence at 4 years.

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13
Q

How is scarlet fever spread?

A
  • Inhaling or ingesting respiratory droplets
  • Direct contact with nose and throat discharges

Especially during sneezing and coughing.

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14
Q

What is the incubation period for scarlet fever?

A

2-4 days

Symptoms typically present after this period.

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15
Q

List the typical symptoms of scarlet fever.

A
  • Fever (lasting 24 to 48 hours)
  • Malaise
  • Headache
  • Nausea/vomiting
  • Sore throat
  • ‘Strawberry’ tongue
  • Rash
  • Fine punctate erythema (‘pinhead’)

The rash generally appears first on the torso and spares the palms and soles.

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16
Q

What does the rash in scarlet fever often feel like?

A

Rough ‘sandpaper’ texture

It is often more obvious in the flexures.

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17
Q

What is the management for scarlet fever?

A
  • Oral penicillin V for 10 days
  • Azithromycin for patients with penicillin allergy

Children can return to school 24 hours after commencing antibiotics.

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18
Q

True or false: Scarlet fever is a notifiable disease.

A

TRUE

This means that cases must be reported to health authorities.

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19
Q

What is the most common complication of scarlet fever?

A

Otitis media

Other complications include rheumatic fever and acute glomerulonephritis.

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20
Q

When does rheumatic fever typically occur after scarlet fever infection?

A

20 days after infection

It is a serious complication that can arise from untreated scarlet fever.

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21
Q

When does acute glomerulonephritis typically occur after scarlet fever infection?

A

10 days after infection

This is another potential complication of scarlet fever.

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22
Q

What are some invasive complications of scarlet fever?

A
  • Bacteraemia
  • Meningitis
  • Necrotizing fasciitis

These are rare but may present acutely with life-threatening illness.

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23
Q

What is the medical term for Osgood-Schlatter disease?

A

tibial apophysitis

This condition is commonly seen in sporty teenagers.

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24
Q

What are the symptoms of Osgood-Schlatter disease?

A
  • Pain
  • Tenderness
  • Swelling over the tibial tubercle

These symptoms typically occur in active adolescents.

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25
What is the most common presentation of **neonatal sepsis**?
Respiratory distress (approximately 85%) ## Footnote Symptoms include grunting, nasal flaring, tachypnoea, and use of accessory respiratory muscles.
26
What are the **two categories** of neonatal sepsis?
* Early-onset sepsis (EOS) * Late-onset sepsis (LOS) ## Footnote EOS occurs within 72 hours of birth, while LOS occurs between 7-28 days of life.
27
What is the **incidence** of neonatal sepsis?
1-5 per 1000 live births ## Footnote Term neonates: 1-2 per 1000 live births; Late pre-term infants: 5 per 1000 live births.
28
What are the **most common causes** of neonatal sepsis?
* Group B streptococcus (GBS) * Escherichia coli ## Footnote These account for approximately two thirds of neonatal sepsis cases.
29
What are some **risk factors** for neonatal sepsis?
* Previous baby with GBS infection * Current GBS colonisation * Intrapartum temperature ≥38ºC * Membrane rupture ≥18 hours * Premature birth (<37 weeks) * Low birth weight (<2.5kg) * Maternal chorioamnionitis ## Footnote Approximately 85% of neonatal sepsis cases are in premature neonates.
30
What percentage of neonatal sepsis cases present with **apnoea**?
40% ## Footnote Other symptoms include tachycardia, lethargy, jaundice, seizures, and poor feeding.
31
What is the **sensitivity** of blood culture for diagnosing neonatal sepsis?
Around 90% ## Footnote Two blood cultures are usually recommended to distinguish from contamination.
32
What is the **first-line antibiotic regimen** for suspected or confirmed neonatal sepsis?
* Intravenous benzylpenicillin * Gentamicin ## Footnote Alternative antibiotics may be needed based on local resistance patterns.
33
True or false: **C-reactive protein (CRP)** is useful for diagnosing neonatal sepsis.
FALSE ## Footnote CRP is not useful for diagnosis but helps guide management and monitor progress.
34
What should be monitored 18-24 hours after presentation in neonates given antibiotics?
C-reactive protein (CRP) ## Footnote This helps to monitor ongoing progress and guide duration of therapy.
35
What is the typical duration of antibiotic treatment for **culture-proven sepsis** in neonates?
Approximately 10 days ## Footnote Duration may vary based on ongoing investigations and clinical picture.
36
What type of virus is **measles**?
RNA paramyxovirus ## Footnote Measles is one of the most infectious known viruses.
37
How is **measles** primarily spread?
Aerosol transmission ## Footnote Measles is infective from prodrome until 4 days after the rash starts.
38
What is the **incubation period** for measles?
10-14 days ## Footnote This is the time from exposure to the onset of symptoms.
39
List the **features** of the prodromal phase of measles.
* Irritable * Conjunctivitis * Fever * Koplik spots ## Footnote Koplik spots are white spots ('grain of salt') on the buccal mucosa that typically develop before the rash.
40
Describe the **rash** associated with measles.
* Starts behind ears * Spreads to the whole body * Discrete maculopapular rash becoming blotchy & confluent * Desquamation may occur after a week ## Footnote The rash typically spares the palms and soles.
41
What percentage of patients with measles experience **diarrhoea**?
Around 10% ## Footnote Diarrhoea is one of the complications associated with measles.
42
What is the main approach to the **management** of measles?
Mainly supportive ## Footnote Admission may be considered in immunosuppressed or pregnant patients.
43
What is the most common **complication** of measles?
Otitis media ## Footnote It is important to monitor for complications during and after the illness.
44
What is the most common cause of **death** associated with measles?
Pneumonia ## Footnote Pneumonia can occur as a serious complication of measles.
45
What is **subacute sclerosing panencephalitis**?
Very rare complication of measles ## Footnote It may present 5-10 years following the illness.
46
What should be offered to a child who is not immunized against measles if they come into contact with the virus?
MMR vaccine ## Footnote The vaccine should be given within 72 hours to develop vaccine-induced measles antibody more rapidly than natural infection.
47
What is **transient synovitis** sometimes referred to as?
irritable hip ## Footnote It generally presents as acute hip pain following a recent viral infection.
48
What is the **commonest cause** of hip pain in children?
Transient synovitis ## Footnote The typical age group affected is 3-8 years.
49
List the **features** of transient synovitis.
* Limp/refusal to weight bear * Groin or hip pain * Low-grade fever (present in a minority) * High fever raises suspicion of other causes ## Footnote High fever may indicate conditions such as septic arthritis.
50
What does NICE suggest when a child presents with a **limp**?
* Fever is a red flag for urgent specialist assessment * Monitoring in primary care is possible with a presumptive diagnosis ## Footnote This applies if the child is aged 3-9 years, well, afebrile, mobile but limping, and has had symptoms for less than 72 hours.
51
True or false: **Transient synovitis** is self-limiting and requires only rest and analgesia.
TRUE ## Footnote It typically resolves on its own without the need for invasive treatments.
52
What is the **compression:ventilation ratio** for lay rescuers in paediatric basic life support?
30:2 ## Footnote This ratio applies to infants and children (not neonates).
53
What is the **compression:ventilation ratio** for healthcare professionals in paediatric basic life support?
15:2 ## Footnote This ratio is used by responders with a duty to respond.
54
Define an **infant** in terms of age.
A child under 1 year of age ## Footnote This definition is crucial for applying paediatric BLS principles.
55
Define a **child** in terms of age.
Aged 1 year until the onset of puberty ## Footnote This age definition is important for paediatric BLS.
56
List the first three steps in the **paediatric BLS algorithm**.
* Ensure safety * Check responsiveness * Shout for help ## Footnote These steps are critical for initiating the BLS process.
57
What should you do after checking responsiveness in the paediatric BLS algorithm?
Open the airway ## Footnote This is followed by looking, listening, and feeling for normal breathing.
58
How long should you look, listen, and feel for **normal breathing**?
No more than 10 seconds ## Footnote Quick assessment is vital to determine the next steps.
59
What is the first action to take if there are no signs of life in a child?
Commence CPR ## Footnote This is crucial if unsure or absent signs of life are observed.
60
What pulse checks should be performed for **infants**?
* Brachial pulse * Femoral pulse ## Footnote Pulse checks should only be done if trained and should not delay CPR.
61
What pulse checks should be performed for **children**?
* Femoral pulse * Carotid pulse ## Footnote These checks are part of the assessment process if trained.
62
What is the recommended **chest compression rate** for paediatric BLS?
100–120 per minute ## Footnote Maintaining this rate is essential for effective CPR.
63
What is the **compression depth** for infants during CPR?
Approximately 4 cm ## Footnote This depth is crucial for effective compressions.
64
What is the **compression depth** for children during CPR?
Approximately 5 cm ## Footnote This depth ensures adequate blood circulation during compressions.
65
What is the preferred **compression technique** for infants?
Two-thumb encircling technique ## Footnote This method is recommended for healthcare professionals.
66
If unable to use the preferred technique for infants, what should be used?
Two fingers on the lower half of the sternum ## Footnote This is an alternative method for performing compressions.
67
How often should the rescuer performing compressions change?
Every 2 minutes if possible ## Footnote This helps maintain the quality of CPR.
68
What should be done with chest compressions during CPR?
* Minimise interruptions * Ensure full chest recoil between compressions ## Footnote These practices enhance the effectiveness of CPR.
69
When should you attach and use an **AED** during paediatric BLS?
As soon as available, using paediatric pads/settings if appropriate ## Footnote Early defibrillation is critical in cardiac emergencies.
70
What is **Roseola infantum** also known as?
exanthem subitum, occasionally sixth disease ## Footnote It is a common disease of infancy caused by the human herpes virus 6 (HHV6).
71
What is the **incubation period** for Roseola infantum?
5-15 days ## Footnote It typically affects children aged 6 months to 2 years.
72
List the **features** of Roseola infantum.
* high fever lasting a few days * maculopapular rash * Nagayama spots (papular enanthem on the uvula and soft palate) * febrile convulsions (10-15%) * diarrhoea and cough ## Footnote These symptoms are commonly associated with the disease.
73
True or false: **School exclusion** is needed for children with Roseola infantum.
FALSE ## Footnote Children do not need to be excluded from school.
74
What are some **other possible consequences** of HHV6 infection?
* aseptic meningitis * hepatitis ## Footnote These conditions can arise from the infection but are less common.
75
What is **hypospadias**?
A congenital abnormality of the penis occurring in approximately 3/1,000 male infants ## Footnote It has a significant genetic element, with a risk of around 5-15% for further male children.
76
What are the **characteristics** of hypospadias?
* Ventral urethral meatus * Hooded prepuce * Chordee (ventral curvature of the penis) in severe forms * Urethral meatus may open more proximally in severe variants ## Footnote 75% of the openings are distally located.
77
What is the **incidence** of associated conditions with hypospadias?
* Cryptorchidism (present in 10%) * Inguinal hernia ## Footnote Hypospadias most commonly occurs as an isolated disorder.
78
What is the recommended **management** for hypospadias once identified?
* Refer infants to specialist services * Corrective surgery typically performed around 12 months of age * Ensure the child is not circumcised prior to surgery ## Footnote The foreskin may be used in the corrective procedure.
79
True or false: In boys with very distal disease, **treatment may be needed**.
FALSE ## Footnote No treatment may be needed in boys with very distal disease.
80
What is the **typical age** for corrective surgery for hypospadias?
Around 12 months of age ## Footnote This timing is crucial for effective management.
81
What may parents notice if **hypospadias** is missed during the newborn check?
An abnormal urine stream ## Footnote This can be an indicator of the condition.
82
What is the **age group** typically affected by **slipped capital femoral epiphysis**?
10-15 years ## Footnote This condition is primarily seen in children within this age range.
83
What demographic is more commonly affected by **slipped capital femoral epiphysis**?
* Obese children * Boys ## Footnote The condition is classically observed in these groups.
84
What is the characteristic **displacement** of the femoral head in **slipped capital femoral epiphysis**?
Postero-inferiorly ## Footnote This displacement is a key feature of the condition.
85
What are common **symptoms** of **slipped capital femoral epiphysis**?
* Hip pain * Groin pain * Medial thigh pain * Knee pain * Loss of internal rotation of the leg in flexion ## Footnote These symptoms may present acutely or chronically.
86
What percentage of cases of **slipped capital femoral epiphysis** are bilateral?
20% ## Footnote Bilateral slips can occur in a significant minority of cases.
87
What imaging views are **diagnostic** for **slipped capital femoral epiphysis**?
AP and lateral (typically frog-leg) views ## Footnote These imaging techniques are essential for diagnosis.
88
What is the typical **management** for **slipped capital femoral epiphysis**?
Internal fixation: typically a single cannulated screw placed in the centre of the epiphysis ## Footnote This surgical intervention aims to stabilize the femoral head.
89
What are potential **complications** of **slipped capital femoral epiphysis**?
* Osteoarthritis * Avascular necrosis of the femoral head * Chondrolysis * Leg length discrepancy ## Footnote These complications can arise if the condition is not managed properly.
90
What is the **triad** of the **shaken baby syndrome**?
* Retinal haemorrhages * Subdural haematoma * Encephalopathy ## Footnote These three conditions are commonly associated with the effects of shaking an infant.
91
What is the **triad** of symptoms associated with **shaken baby syndrome**?
* Retinal haemorrhages * Subdural haematoma * Encephalopathy ## Footnote These symptoms are indicative of the syndrome caused by the intentional shaking of a child aged 0-5 years.
92
Shaken baby syndrome is caused by the **intentional shaking** of a child aged _______.
0-5 years old ## Footnote This age range is critical as children are particularly vulnerable to injury from shaking.
93
True or false: The diagnosis of **shaken baby syndrome** is universally accepted among physicians.
FALSE ## Footnote There is controversy among physicians regarding whether the mechanism of injury is definitively intentional shaking.
94
What difficulty arises in the courts regarding **shaken baby syndrome** cases?
Difficulty in convicting suspects ## Footnote This is often due to the controversy surrounding the diagnosis and the mechanism of injury.
95
What is **Meckel's diverticulum**?
A congenital diverticulum of the small intestine ## Footnote It is a remnant of the omphalomesenteric duct and contains ectopic ileal, gastric, or pancreatic mucosa.
96
What is the **Rule of 2s** in relation to Meckel's diverticulum?
* Occurs in 2% of the population * Is 2 feet from the ileocaecal valve * Is 2 inches long ## Footnote These characteristics help in the identification and understanding of Meckel's diverticulum.
97
List common **presentations** of Meckel's diverticulum.
* Abdominal pain mimicking appendicitis * Rectal bleeding * Intestinal obstruction ## Footnote Meckel's diverticulum is the most common cause of painless massive GI bleeding requiring a transfusion in children aged 1 to 2 years.
98
True or false: Meckel's diverticulum is usually **asymptomatic**.
TRUE ## Footnote While it can be asymptomatic, it may present with abdominal pain, rectal bleeding, or intestinal obstruction.
99
What investigation should be considered for a child with Meckel's diverticulum who is haemodynamically stable?
'Meckel's scan' using 99m technetium pertechnetate ## Footnote This scan has an affinity for gastric mucosa and helps in the diagnosis.
100
What are the management options for symptomatic Meckel's diverticulum?
* Wedge excision * Formal small bowel resection and anastomosis ## Footnote Removal is indicated if the diverticulum has a narrow neck or is symptomatic.
101
What is the **pathophysiology** of Meckel's diverticulum?
Attachment between the vitellointestinal duct and yolk sac disappears at 6 weeks gestation ## Footnote The tip is free in the majority of cases and is associated with various anomalies.
102
What is the **arterial supply** of Meckel's diverticulum?
Omphalomesenteric artery ## Footnote This artery supplies the diverticulum and is important in its vascularization.
103
What type of mucosa typically lines Meckel's diverticulum?
Ileal mucosa ## Footnote Ectopic gastric mucosa can occur, increasing the risk of peptic ulceration.
104
What is the new term for **congenital dislocation of the hip** (CDH)?
Developmental dysplasia of the hip (DDH) ## Footnote DDH affects around 1-3% of newborns.
105
List the **risk factors** for developmental dysplasia of the hip (DDH).
* Female sex: 6 times greater risk * Breech presentation * Positive family history * Firstborn children * Oligohydramnios * Birth weight > 5 kg * Congenital calcaneovalgus foot deformity ## Footnote DDH is slightly more common in the left hip, and around 20% of cases are bilateral.
106
Which infants require a **routine ultrasound examination** for DDH?
* First-degree family history of hip problems in early life * Breech presentation at or after 36 weeks gestation * Multiple pregnancy ## Footnote All infants are screened at both the newborn check and the six-week baby check using the Barlow and Ortolani tests.
107
What does the **Barlow test** attempt to do?
Attempts to dislocate an articulated femoral head ## Footnote The Ortolani test attempts to relocate a dislocated femoral head.
108
What does the **Ortolani test** attempt to do?
Attempts to relocate a dislocated femoral head ## Footnote Other important factors include symmetry of leg length and level of knees when hips and knees are bilaterally flexed.
109
What imaging technique is generally used to confirm the diagnosis of DDH if clinically suspected?
Ultrasound ## Footnote If the infant is > 4.5 months, then x-ray is the first line investigation.
110
What is the management for developmental dysplasia of the hip and the most common in unstable hips in infants?
Management most unstable hips will spontaneously stabilise by 3-6 weeks of age Pavlik harness (dynamic flexion-abduction orthosis) in children younger than 4-5 months older children may require surgery ## Footnote A Pavlik harness is used in children younger than 4-5 months, while older children may require surgery.
111
What is the **commonest cause** of respiratory distress in the newborn period?
Transient tachypnoea of the newborn (TTN) ## Footnote TTN is caused by delayed resorption of fluid in the lungs.
112
Transient tachypnoea of the newborn (TTN) is more common following **__________**.
caesarean sections ## Footnote This is possibly due to the lung fluid not being 'squeezed out' during the passage through the birth canal.
113
What may a **chest x-ray** show in cases of transient tachypnoea of the newborn?
* Hyperinflation of the lungs * Fluid in the horizontal fissure ## Footnote These findings are indicative of TTN.
114
What is the typical **management** for transient tachypnoea of the newborn?
* Observation * Supportive care * Supplementary oxygen may be required ## Footnote Management focuses on maintaining oxygen saturations.
115
Transient tachypnoea of the newborn usually settles within **__________**.
1-2 days ## Footnote This condition is typically self-limiting.
116
What is the most likely diagnosis for a child who is well, afebrile, and has had symptoms for less than 72 hours?
Transient synovitis ## Footnote Recent viral infection is a risk factor. NICE guidelines recommend considering this diagnosis for patients aged 3-9 years with specific symptoms.
117
What is the management recommendation for transient synovitis?
* Simple analgesia * Good safety net advice * Follow-up to ensure resolution of symptoms ## Footnote These measures help in monitoring and managing the condition effectively.
118
True or false: **Juvenile idiopathic arthritis** is a likely diagnosis for a child with acute symptoms lasting less than 72 hours.
FALSE ## Footnote Juvenile idiopathic arthritis is characterized by arthritis lasting at least 6 weeks, not consistent with acute presentation.
119
What is **Osgood-Schlatter disease**?
An overuse injury causing anterior knee pain in adolescents ## Footnote It is not consistent with the acute presentation described in this case.
120
What is the classic triad of symptoms for **reactive arthritis**?
* Conjunctivitis * Urethritis * Arthritis ## Footnote This triad is useful to remember for exams, though not always clinically observed.
121
What is **slipped upper femoral epiphysis**?
Displacement of the proximal femoral epiphysis from the metaphysis ## Footnote It should be considered in children aged 10-19 years presenting with a limp, making it less likely in this case.
122
What is **Perthes' disease**?
A degenerative condition affecting the hip joints of children, typically between the ages of 4-8 years ## Footnote It is due to avascular necrosis of the femoral head, specifically the femoral epiphysis.
123
What causes **Perthes' disease**?
Impaired blood supply to the femoral head causing bone infarction ## Footnote This leads to degeneration of the hip joint.
124
Perthes' disease is **how many times** more common in boys?
5 times more common ## Footnote Around 10% of cases are bilateral.
125
List the **features** of Perthes' disease.
* Hip pain: develops progressively over a few weeks * Limp * Stiffness and reduced range of hip movement * X-ray: early changes include widening of joint space, later changes include decreased femoral head size/flattening ## Footnote These features help in identifying the condition.
126
What is the primary method for **diagnosing** Perthes' disease?
Plain x-ray ## Footnote Technetium bone scan or magnetic resonance imaging may be used if normal x-ray and symptoms persist.
127
What are the potential **complications** of Perthes' disease?
* Osteoarthritis * Premature fusion of the growth plates ## Footnote These complications can arise if the condition is not managed properly.
128
What are the **stages** of Catterall staging for Perthes' disease?
* Stage 1: Clinical and histological features only * Stage 2: Sclerosis with or without cystic changes and preservation of the articular surface * Stage 3: Loss of structural integrity of the femoral head * Stage 4: Loss of acetabular integrity ## Footnote Each stage indicates the progression and severity of the disease.
129
What is the **management** strategy for Perthes' disease?
* To keep the femoral head within the acetabulum: cast, braces * If less than 6 years: observation * Older: surgical management with moderate results * Operate on severe deformities ## Footnote Management varies based on age and severity of the condition.
130
What is the **prognosis** for Perthes' disease?
Most cases will resolve with conservative management ## Footnote Early diagnosis improves outcomes.
131
What is the prevalence of **cow's milk protein intolerance/allergy (CMPI/CMPA)** in children?
3-6% ## Footnote Typically presents in the first 3 months of life in formula-fed infants.
132
In which type of infants is **cow's milk protein intolerance/allergy** rarely seen?
Exclusively breastfed infants ## Footnote Most cases occur in formula-fed infants.
133
What are the two types of reactions associated with **cow's milk protein allergy**?
* Immediate (IgE mediated) * Delayed (non-IgE mediated) ## Footnote CMPA is used for immediate reactions, while CMPI is used for mild-moderate delayed reactions.
134
List the common **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 ## Footnote Symptoms can vary in severity.
135
What is the primary method for **diagnosing** cow's milk protein intolerance/allergy?
Clinical diagnosis ## Footnote Improvement with cow's milk protein elimination is a key indicator.
136
What **investigations** can be conducted for cow's milk protein intolerance/allergy?
* Skin prick/patch testing * Total IgE and specific IgE (RAST) for cow's milk protein ## Footnote These tests help confirm the diagnosis.
137
What is the first-line **replacement formula** for infants with mild-moderate symptoms of cow's milk protein allergy?
Extensive hydrolysed formula (eHF) ## Footnote This is recommended for formula-fed infants.
138
What should be used for infants with **severe CMPA** or if there is no response to eHF?
Amino acid-based formula (AAF) ## Footnote This is suitable for severe cases.
139
What is the management approach for **breastfed infants** suspected of having cow's milk protein intolerance?
* Continue breastfeeding * Eliminate cow's milk protein from maternal diet * Consider calcium supplements for breastfeeding mothers ## Footnote Use eHF milk when breastfeeding stops, until 12 months of age.
140
What is the **prognosis** for children with cow's milk protein intolerance?
* CMPI usually resolves in most children * 55% of children with IgE mediated intolerance will be milk tolerant by age 5 * Most children with non-IgE mediated intolerance will be milk tolerant by age 3 ## Footnote A challenge is often performed in a hospital setting due to the risk of anaphylaxis.
141
What is **Hand, foot and mouth disease** primarily caused by?
Intestinal viruses of the **Picornaviridae** family (most commonly **coxsackie A16** and **enterovirus 71**) ## Footnote This disease is very contagious and typically occurs in outbreaks at nurseries.
142
List the **clinical features** of Hand, foot and mouth disease.
* Mild systemic upset: sore throat, fever * Oral ulcers * Vesicles on the palms and soles of the feet ## Footnote These symptoms develop in a sequence, starting with systemic upset and progressing to oral ulcers and then vesicles.
143
What type of treatment is recommended for Hand, foot and mouth disease?
Symptomatic treatment only: general advice about hydration and analgesia ## Footnote There is no specific antiviral treatment for this self-limiting condition.
144
True or false: Children with Hand, foot and mouth disease need to be excluded from school.
FALSE ## Footnote Children do not need to be excluded from school, but those who are unwell should stay home until they feel better.
145
What should you do if you suspect a **large outbreak** of Hand, foot and mouth disease?
Contact the **HPA** ## Footnote The Health Protection Agency advises contacting them in case of suspected large outbreaks.
146
What are **Gastroschisis** and **exomphalos** examples of?
Congenital visceral malformations ## Footnote Both conditions involve defects in the abdominal wall.
147
Describe **Gastroschisis**.
A congenital defect in the anterior abdominal wall just lateral to the umbilical cord ## Footnote This condition allows abdominal contents to protrude outside the body.
148
What is the management protocol for **Gastroschisis** after delivery?
* Vaginal delivery may be attempted * Newborns should go to theatre as soon as possible after delivery, e.g. within 4 hours ## Footnote Timely surgical intervention is crucial for the newborn.
149
What is another name for **exomphalos**?
Omphalocoele ## Footnote This condition involves abdominal contents protruding through the abdominal wall.
150
In **exomphalos**, how are the abdominal contents covered?
By an amniotic sac formed by amniotic membrane and peritoneum ## Footnote This covering differentiates it from gastroschisis.
151
List some **associations** with **exomphalos**.
* Beckwith-Wiedemann syndrome * Down's syndrome * Cardiac and kidney malformations ## Footnote These associations highlight the potential for other congenital issues.
152
What is the indicated management for **exomphalos** to reduce the risk of sac rupture?
Caesarean section ## Footnote This method is preferred to avoid complications during delivery.
153
What may be necessary if primary closure of **exomphalos** is difficult?
A staged repair ## Footnote This approach allows for gradual closure as the infant grows.
154
What happens to the sac during the staged repair of **exomphalos**?
The sac is allowed to granulate and epithelialise over the coming weeks/months ## Footnote This forms a 'shell' that helps protect the contents.
155
When can the shell from **exomphalos** be removed?
When the sac contents can fit within the abdominal cavity ## Footnote At this point, the abdomen can be closed.
156
What percentage of children typically experience **cow's milk protein intolerance/allergy (CMPI/CMPA)**?
3-6% ## Footnote CMPI/CMPA usually presents in the first 3 months of life in formula-fed infants.
157
What are the two types of reactions associated with **cow's milk protein allergy**?
* Immediate (IgE mediated) * Delayed (non-IgE mediated) ## Footnote CMPA is used for immediate reactions, while CMPI is used for mild-moderate delayed reactions.
158
List some **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 ## Footnote These symptoms can vary in severity.
159
How is the **diagnosis** of cow's milk protein intolerance/allergy often made?
* Clinical improvement with cow's milk protein elimination * Skin prick/patch testing * Total IgE and specific IgE (RAST) for cow's milk protein ## Footnote Diagnosis may involve a combination of clinical assessment and specific tests.
160
What is the **first-line replacement formula** for infants with mild-moderate symptoms of CMPA?
Extensive hydrolysed formula (eHF) ## Footnote This is recommended for formula-fed infants experiencing symptoms.
161
What should be used for infants with **severe CMPA** or if there is no response to eHF?
Amino acid-based formula (AAF) ## Footnote AAF is suitable for infants with severe reactions.
162
What is the recommended management for **breastfed infants** with CMPA?
* Continue breastfeeding * Eliminate cow's milk protein from maternal diet * Consider prescribing calcium supplements for breastfeeding mothers * Use eHF milk when breastfeeding stops, until 12 months of age and at least for 6 months ## Footnote This approach helps manage the infant's intolerance while maintaining breastfeeding.
163
What is the **prognosis** for children with cow's milk protein intolerance/allergy?
* CMPI usually resolves in most children * 55% of children with IgE mediated intolerance will be milk tolerant by age 5 * Most children with non-IgE mediated intolerance will be milk tolerant by age 3 ## Footnote A challenge may be performed in a hospital setting due to the risk of anaphylaxis.
164
What is **acute epiglottitis**?
A rare but serious infection caused by Haemophilus influenzae type B ## Footnote Prompt recognition and treatment are essential as airway obstruction may develop.
165
True or false: **Acute epiglottitis** is now more common in adults in the UK due to the immunisation programme.
TRUE ## Footnote It was generally considered a disease of childhood.
166
What has caused the **incidence of epiglottitis** to decrease?
The introduction of the Hib vaccine ## Footnote This vaccine has significantly reduced the occurrence of the disease.
167
List the **features** of acute epiglottitis.
* Rapid onset * High temperature, generally unwell * Stridor * Drooling of saliva * 'Tripod' position ## Footnote The 'tripod' position helps the patient breathe easier by leaning forward and extending their neck.
168
How is **diagnosis** of acute epiglottitis made?
By direct visualisation (only by senior/airway trained staff) ## Footnote X-rays may be done to check for foreign bodies; a lateral view shows swelling of the epiglottis ('thumb sign').
169
What does a **lateral view** in acute epiglottitis show?
Swelling of the epiglottis - the 'thumb sign' ## Footnote This is in contrast to croup, which shows subglottic narrowing ('steeple sign').
170
What is the **management** for acute epiglottitis?
* Immediate senior involvement * Endotracheal intubation if necessary * Do NOT examine the throat * Oxygen * Intravenous antibiotics ## Footnote Senior staff must be involved to provide emergency airway support.
171
Fill in the blank: If acute epiglottitis is suspected, do NOT examine the _______ due to the risk of acute airway obstruction.
throat ## Footnote This precaution is crucial to prevent worsening the patient's condition.
172
What does **DDH** stand for?
Developmental dysplasia of the hip ## Footnote DDH is gradually replacing the term 'congenital dislocation of the hip' (CDH) and affects around 1-3% of newborns.
173
List the **risk factors** for developmental dysplasia of the hip (DDH).
* Female sex: 6 times greater risk * Breech presentation * Positive family history * Firstborn children * Oligohydramnios * Birth weight > 5 kg * Congenital calcaneovalgus foot deformity ## Footnote These factors increase the likelihood of DDH in newborns.
174
DDH is slightly more common in which **hip**?
Left hip ## Footnote Around 20% of cases are bilateral.
175
Which infants require a routine **ultrasound examination** for DDH?
* First-degree family history of hip problems in early life * Breech presentation at or after 36 weeks gestation * Multiple pregnancy ## Footnote All infants are screened at both the newborn check and the six-week baby check using the Barlow and Ortolani tests.
176
What does the **Barlow test** attempt to do?
Dislocate an articulated femoral head ## Footnote This test is part of the clinical examination for DDH.
177
What does the **Ortolani test** attempt to do?
Relocate a dislocated femoral head ## Footnote This test is also part of the clinical examination for DDH.
178
What imaging technique is generally used to confirm the diagnosis of DDH if clinically suspected?
Ultrasound ## Footnote If the infant is > 4.5 months, then x-ray is the first line investigation.
179
What is the management for most unstable hips in infants?
Spontaneously stabilise by 3-6 weeks of age ## Footnote A Pavlik harness is used in children younger than 4-5 months, while older children may require surgery.
180
What is the **commonest cause** of respiratory distress in the newborn period?
Transient tachypnoea of the newborn (TTN) ## Footnote TTN is characterized by delayed resorption of fluid in the lungs.
181
Transient tachypnoea of the newborn (TTN) is more common following **__________**.
caesarean sections ## Footnote This is possibly due to the lung fluid not being 'squeezed out' during the passage through the birth canal.
182
What might a **chest x-ray** show in cases of transient tachypnoea of the newborn?
* Hyperinflation of the lungs * Fluid in the horizontal fissure ## Footnote These findings are indicative of TTN.
183
What is the general **management** for transient tachypnoea of the newborn?
* Observation * Supportive care * Supplementary oxygen may be required ## Footnote Management focuses on maintaining oxygen saturations.
184
Transient tachypnoea of the newborn usually settles within **__________**.
1-2 days ## Footnote This condition is typically self-limiting.
185
What type of allergy is described in the text?
**mild-to-moderate, non-IgE mediated cow's milk protein allergy** ## Footnote This condition typically resolves with dietary exclusion.
186
By what age do most children outgrow a **cow's milk protein allergy**?
**by the age of three** ## Footnote This is a common outcome for children with this condition.
187
When can reintroduction of cow's milk protein be considered after dietary exclusion?
**from 9-12 months of age, or after 6 months of exclusion** ## Footnote Timing for reintroduction is crucial for managing the allergy.
188
What is the **milk ladder**?
**a structured, stepwise approach to reintroducing cow's milk protein** ## Footnote It starts with well-cooked products and progresses to less-cooked forms.
189
What is the first step in the **milk ladder**?
**products where the milk protein is well-cooked and less allergenic** ## Footnote An example is a malted milk biscuit.
190
What is the final step in the **milk ladder**?
**fresh milk** ## Footnote This is the least processed form of cow's milk protein.
191
Is the **milk ladder** a recommended approach for reintroducing cow's milk protein?
**Yes** ## Footnote It is the standard, guideline-recommended approach for this presentation.
192
What is **Croup**?
A form of upper respiratory tract infection in infants and toddlers characterized by stridor ## Footnote Caused by laryngeal oedema and secretions, primarily due to parainfluenza viruses.
193
What is the **peak incidence age** for Croup?
6 months - 3 years ## Footnote Croup is more common in the autumn.
194
List the **features** of Croup.
* Stridor * Barking cough (worse at night) * Fever * Coryzal symptoms ## Footnote These symptoms are indicative of Croup in affected infants and toddlers.
195
What is **Acute epiglottitis**?
A rare but serious infection caused by Haemophilus influenzae type B ## Footnote Prompt recognition and treatment are essential due to the risk of airway obstruction.
196
At what age does **epiglottitis** generally occur?
Between 2 and 6 years ## Footnote The incidence has decreased since the introduction of the Hib vaccine.
197
List the **features** of Acute epiglottitis.
* Rapid onset * Unwell, toxic child * Stridor * Drooling of saliva ## Footnote These features indicate a serious condition requiring immediate medical attention.
198
What are the symptoms of an **Inhaled foreign body**?
Symptoms depend on the site of impaction ## Footnote Features include sudden onset of coughing, choking, vomiting, and stridor.
199
What is **Laryngomalacia**?
A congenital abnormality of the larynx ## Footnote It causes collapse during inspiration due to softening of the cartilage.
200
At what age do infants typically present with **Laryngomalacia**?
4 weeks of age ## Footnote It usually self-resolves before 2 years of age.
201
What are the **features** of Laryngomalacia?
* Stridor ## Footnote It should be suspected in an otherwise well infant with noisy breathing.
202
What condition most often affects **preterm infants** treated with supplemental oxygen and ventilation?
Bronchopulmonary dysplasia ## Footnote This condition is a significant concern in neonatal care.
203
What is the purpose of **Kocher's criteria**?
To assess the probability of septic arthritis in children ## Footnote It uses specific parameters to evaluate risk.
204
List the **four parameters** used in Kocher's criteria.
* Non-weight bearing * Fever >38.5ºC * WCC >12 * 10^9/L * ESR >40mm/hr ## Footnote Each parameter contributes to the assessment of septic arthritis probability.
205
What does **0 points** indicate in Kocher's criteria?
Very low risk ## Footnote This score reflects a minimal likelihood of septic arthritis.
206
What is the probability of septic arthritis with **1 point** according to Kocher's criteria?
3% probability ## Footnote This indicates a low risk of septic arthritis.
207
What probability of septic arthritis is associated with **2 points**?
40% probability ## Footnote This score suggests a moderate risk of septic arthritis.
208
What is the probability of septic arthritis with **3 points**?
93% probability ## Footnote This indicates a high risk of septic arthritis.
209
What does **4 points** signify in Kocher's criteria?
99% probability of septic arthritis ## Footnote This score indicates an extremely high likelihood of septic arthritis.
210
What is **Osteochondritis dissecans**?
A condition where small segments of articular cartilage and bone come loose into the joint due to reduced blood supply ## Footnote It typically affects older children and presents with a more insidious onset.
211
Osteochondritis dissecans is characterized by the loosening of what two components in the joint?
* Articular cartilage * Bone ## Footnote This condition is linked to reduced blood supply to these areas.
212
True or false: Osteochondritis dissecans primarily affects adults.
FALSE ## Footnote It tends to present in older children.
213
What is the typical onset of **Osteochondritis dissecans**?
More insidious ## Footnote This means the symptoms develop gradually rather than suddenly.
214
What vaccine is recommended at **birth** if risk factors are present?
BCG ## Footnote The BCG vaccine is given if the baby is deemed at risk of tuberculosis.
215
At **8 weeks**, which vaccines are included in the **'6-1 vaccine'**?
* Diphtheria * Tetanus * Whooping cough * Polio * Hib * Hepatitis B ## Footnote The '6-1 vaccine' combines multiple immunisations into one.
216
What vaccine is given at **12 weeks** alongside the **'6-1 vaccine'**?
* Men B vaccine * Oral rotavirus vaccine ## Footnote The Men B vaccine is part of the immunisation schedule at this age.
217
At **16 weeks**, which additional vaccine is administered with the **'6-1 vaccine'**?
PCV ## Footnote PCV stands for Pneumococcal Conjugate Vaccine.
218
What vaccines are given at **12 months**?
* MMRV vaccine * PCV booster * Men B booster ## Footnote The MMRV vaccine covers measles, mumps, rubella, and varicella.
219
At **18 months**, which vaccine is administered?
6-in-1 vaccine ## Footnote This is a continuation of the immunisation schedule.
220
What vaccine is recommended annually for children aged **2-15 years**?
Flu vaccine ## Footnote The flu vaccine is given every year to help protect against influenza.
221
At **3 years and 4 months**, which booster vaccine is given?
'4-in-1 pre-school booster' ## Footnote This booster includes diphtheria, tetanus, whooping cough, and polio.
222
What vaccine is administered to children aged **12-13 years**?
HPV vaccination ## Footnote HPV stands for Human Papilloma Vaccine.
223
What vaccines are included in the **'3-in-1 teenage booster'** for ages **13-18 years**?
* Tetanus * Diphtheria * Polio ## Footnote This booster is important for maintaining immunity.
224
What does **Men ACWY** vaccine cover?
Meningococcal vaccine covering A, C, W and Y serotypes ## Footnote This vaccine is important for preventing meningococcal disease.
225
Causes of new born respiratory distress?
The most likely cause of the baby's respiratory distress is transient tachypnoea of the newborn. This condition is characterized by rapid breathing, grunting, and mild intercostal recession. It occurs due to delayed clearance of fetal lung fluid after birth. The risk factors include elective Caesarean section without labour and maternal diabetes. Oxygen saturations of 95-96% on air are consistent with this diagnosis, as they are typically normal or mildly reduced. Transient tachypnoea of the newborn usually resolves within 24-48 hours with supportive care. Surfactant deficient lung disease, also known as respiratory distress syndrome (RDS), is less likely in this case. RDS typically presents with more severe respiratory distress, including tachypnoea, nasal flaring, and audible expiratory grunting. Additionally, it is more common in preterm infants born before 37 weeks gestation due to insufficient surfactant production. Congenital pneumonia could present similarly to transient tachypnoea of the newborn; however, it is less likely in this scenario because there are no risk factors for infection such as prolonged rupture of membranes or maternal fever during labour. Moreover, oxygen saturations would be expected to be lower if the baby had pneumonia. Persistent pulmonary hypertension of the newborn (PPHN) occurs when there is a failure to transition from fetal circulation to postnatal circulation. PPHN presents with severe hypoxia and cyanosis that does not improve with supplemental oxygen administration. The oxygen saturations, in this case, do not support a diagnosis of PPHN. Finally, pulmonary hypoplasia refers to the underdevelopment of the lungs and can occur due to various causes such as oligohydramnios or congenital diaphragmatic hernia. Pulmonary hypoplasia typically presents with severe respiratory distress and poor oxygenation, making it less likely in this case where the baby has only mild intercostal recession and near-normal oxygen saturations.
226
Head lice (also known as pediculosis capitis or 'nits') is a common condition in children caused by the parasitic insect Pediculus capitis
which lives on and among the hair of the scalp of humans.
227
Head lice are small insects that live only on humans
they feed on our blood. Eggs are grey or brown and about the size of a pinhead. The eggs are glued to the hair
228
Head lice are spread by direct head-to-head contact and therefore tend to be more common in children because they play closely together. They cannot jump
fly or swim! When newly infected
229
fine-toothed combing of wet or dry hair
diagnosis of lice
230
Management
treatment is only indicated if living lice are found, a choice of treatments should be offered - malathion, wet combing, chemical insecticide (Malathion)
231
household contacts of patients with head lice do not need to be treated unless they are also affected
232
School exclusion is not advised for children with head liceThere are three main treatment options for head lice: physical insecticides (such as dimeticone)
233
What is **Haemophilia A**?
A genetic bleeding disorder caused by a lack of clotting factor VIII ## Footnote It results in improper blood clotting.
234
What is the role of **clotting factor VIII**?
A protein needed to form blood clots ## Footnote Without enough of it, bleeding lasts longer than normal.
235
What causes **Haemophilia A**?
A mutation in the **F8 gene** on the X chromosome ## Footnote It is X-linked recessive.
236
True or false: **Haemophilia A** mostly affects females.
FALSE ## Footnote It mostly affects males; females are usually carriers.
237
What are common **symptoms** of Haemophilia A?
* Easy bruising * Frequent nosebleeds * Bleeding after cuts, dental work, or surgery * Bleeding into joints * Internal bleeding in severe cases * Spontaneous bleeding in severe cases ## Footnote Symptoms depend on the level of factor VIII.
238
What are the **types of Haemophilia A** by severity?
* Mild: 5–40% of normal * Moderate: 1–5% * Severe: <1% ## Footnote Severity affects the frequency and type of bleeding.
239
What is the treatment for **Haemophilia A**?
* Factor VIII replacement therapy * Desmopressin (DDAVP) for mild cases * Preventive (prophylactic) treatment * Newer therapies like gene therapy ## Footnote There is no permanent cure yet, but it can be managed.
240
With proper treatment, many people with **Haemophilia A** can live _______.
normal lives ## Footnote Management of the condition allows for a good quality of life.
241
In **X-linked recessive inheritance**, who is primarily affected?
Only males ## Footnote An exception is patients with Turner's syndrome, who have only one X chromosome.
242
In X-linked recessive disorders, who transmits the disorder?
Heterozygote females (carriers) ## Footnote Male-to-male transmission is not seen.
243
What is the chance of each male child of a heterozygous female carrier being affected?
50% ## Footnote Each female child of a heterozygous female carrier has a 50% chance of being a carrier.
244
True or false: Affected males can have affected sons.
FALSE ## Footnote Affected males can only have unaffected sons and carrier daughters.
245
What is the likelihood of an affected father having children with a heterozygous female carrier?
Extremely rare ## Footnote However, in certain Afro-Caribbean communities, G6PD deficiency is relatively common.
246
What condition can homozygous females with clinical manifestations of the enzyme defect be seen in?
G6PD deficiency ## Footnote This is particularly noted in certain Afro-Caribbean communities.
247
what is Kawasaki disease?
Kawasaki disease is a type of vasculitis which is predominately seen in children. Whilst Kawasaki disease is uncommon it is important to recognise as it may cause potentially serious complicationsincluding coronary artery aneurysms.
248
What are the Features of Kawasaki disease?
high-grade fever which lasts for > 5 days. Fever is characteristically resistant to antipyretics, conjunctival injection, bright red cracked lips, strawberry tongue, cervical lymphadenopathy, red plams of the hand and the soles of the feet which later peel-desquamation
249
Kawasaki disease is a clinical diagnosis as there is no specific diagnostic test. What is the Management
high-dose aspirin, Kawasaki disease is one of the few indications for the use of aspirin in children. Due to the risk of Reye's syndrome aspirin is normally contraindicated in children, intravenous immunoglobulinm, echocardiogram (rather than angiography) is used as the initial screening test for coronary artery aneurysms
250
Complications of Kawasaki disease?
coronary artery aneurysm
251
At **3 months**, what is a major gross motor milestone regarding head control?
Little or no head lag on being pulled to sit ## Footnote Also, good head control while lying on abdomen and lumbar curve when held sitting.
252
What can a child do at **6 months** in terms of gross motor skills?
* Lying on abdomen, arms extended * Lying on back, lifts and grasps feet * Pulls self to sitting * Held sitting, back straight * Rolls front to back ## Footnote These milestones indicate significant development in strength and coordination.
253
At **7-8 months**, what is a key gross motor milestone?
Sits without support ## Footnote Refer at 12 months for further milestones.
254
What gross motor skills are typically achieved by **9 months**?
* Pulls to standing * Crawls ## Footnote Crawling is a common precursor to walking.
255
At **12 months**, what are the expected gross motor milestones?
* Cruises * Walks with one hand held ## Footnote Cruising involves moving while holding onto furniture or other supports.
256
What gross motor milestone is expected at **13-15 months**?
Walks unsupported ## Footnote Refer at 18 months for further milestones.
257
At **18 months**, what gross motor skill can a child perform?
Squats to pick up a toy ## Footnote This indicates improved balance and coordination.
258
What are the gross motor milestones for a **2-year-old**?
* Runs * Walks upstairs and downstairs holding on to rail ## Footnote These skills show increased mobility and confidence.
259
At **3 years**, what gross motor skill is typically developed?
Rides a tricycle using pedals ## Footnote This milestone reflects coordination and strength.
260
What can a **3-year-old** do regarding stairs?
Walks up stairs without holding on to rail ## Footnote This indicates improved balance and independence.
261
At **4 years**, what is a significant gross motor milestone?
Hops on one leg ## Footnote This skill demonstrates balance and coordination.
262
True or false: The majority of children crawl on all fours before walking.
TRUE ## Footnote Some children may 'bottom-shuffle', which is a normal variant and runs in families.
263
What is the **most common inherited cause** of intellectual disability?
Fragile X syndrome ## Footnote It is also a common genetic cause of autism spectrum disorder.
264
Fragile X syndrome is caused by a mutation in the **_______** gene on the X chromosome.
FMR1 ## Footnote The FMR1 gene normally produces a protein called FMRP, important for brain development.
265
What happens when the **CGG trinucleotide repeat** in the FMR1 gene exceeds 200?
The gene becomes silenced ## Footnote This stops production of FMRP, leading to learning and developmental problems.
266
What is the **inheritance pattern** of Fragile X syndrome?
X-linked dominant ## Footnote More severe in males due to having only one X chromosome.
267
True or false: Females with Fragile X syndrome always exhibit severe symptoms.
FALSE ## Footnote Females may have milder symptoms due to having two X chromosomes.
268
List common **developmental features** of Fragile X syndrome.
* Intellectual disability * Delayed speech * Learning difficulties * Autism-like behaviors * ADHD ## Footnote These features are often observed in affected individuals.
269
What are some **physical features** of Fragile X syndrome that often become clearer after puberty?
* Long, narrow face * Large ears * Prominent jaw * Macroorchidism * Joint hypermobility ## Footnote Features in females range from normal to mild.
270
How can **diagnosis** of Fragile X syndrome be made antenatally?
* Chorionic villus sampling * Amniocentesis ## Footnote Diagnosis can also involve analysis of the number of CGG repeats using restriction endonuclease digestion and Southern blot analysis.
271
What is the **treatment** approach for Fragile X syndrome?
* Early educational intervention * Speech and behavioral therapy * Medications for ADHD or anxiety ## Footnote There is no cure for Fragile X syndrome.
272
What does the **FMR1 gene** normally produce?
FMRP FMR1 = Fragile Mental Retardation 1 (gene) FMRP = Fragile Mental Retardation Protein ⚠️ Note: The term “mental retardation” is outdated and no longer used clinically. Today we say intellectual disability, but the gene name remains the same for historical reasons. ## Footnote FMRP is important for brain development.
273
What system was introduced by the **2007 NICE Feverish illness in children guidelines** for risk stratification?
Traffic light system ## Footnote These guidelines were modified in a 2013 update.
274
What should be recorded in all **febrile children**?
* Temperature * Heart rate * Respiratory rate * Capillary refill time ## Footnote Signs of dehydration should also be assessed.
275
How should temperature be measured in children under **4 weeks**?
With an electronic thermometer in the axilla ## Footnote For older children, an electronic/chemical dot thermometer or an infra-red tympanic thermometer can be used.
276
What does a **green** risk stratification indicate?
* Normal colour * Responds normally to social cues * Strong normal cry/not crying * Normal skin and eyes ## Footnote Indicates low risk for serious illness.
277
What does an **amber** risk stratification indicate?
* Pallor reported by parent/carer * Not responding normally to social cues * Tachycardia: >160 beats/minute (age <12 months) * Age 3-6 months, temperature >=39ºC ## Footnote Indicates intermediate risk; further assessment may be needed.
278
What does a **red** risk stratification indicate?
* Pale/mottled/ashen/blue * No response to social cues * Weak, high-pitched or continuous cry * Age <3 months, temperature >=38°C ## Footnote Indicates high risk; urgent referral to a paediatric specialist is required.
279
What should be done if a child is categorized as **green**?
Managed at home with appropriate care advice ## Footnote Includes information on when to seek further help.
280
What is included in a **safety net** for children categorized as amber?
* Verbal or written information on warning symptoms * Follow-up appointment * Liaison with other healthcare professionals ## Footnote Ensures parents have access to further healthcare if needed.
281
What should be done if a child is categorized as **red**?
Refer child urgently to a paediatric specialist ## Footnote This is critical for high-risk cases.
282
True or false: **Oral antibiotics** should be prescribed to children with fever without apparent source.
FALSE ## Footnote Antibiotics should not be prescribed in such cases.
283
If pneumonia is suspected but the child is not going to be referred to hospital, what is the protocol regarding a **chest x-ray**?
A chest x-ray does not need to be routinely performed ## Footnote This applies if the child is not being referred.
284
What does **intussusception** describe?
The invagination of one portion of the bowel into the lumen of the adjacent bowel ## Footnote Most commonly occurs around the ileo-caecal region.
285
Which age group is most commonly affected by **intussusception**?
Infants between 6-18 months old ## Footnote Boys are affected twice as often as girls.
286
List the **features** of intussusception.
* Intermittent, severe, crampy, progressive abdominal pain * Inconsolable crying * Drawing knees up and turning pale during paroxysm * Vomiting * Bloodstained stool - 'red-currant jelly' (late sign) * Sausage-shaped mass in the right upper quadrant ## Footnote These features are characteristic signs of intussusception in infants.
287
What is the **investigation of choice** for intussusception?
Ultrasound ## Footnote It may show a target-like mass.
288
What is the first-line **management** for intussusception in children?
Reduction by air insufflation under radiological control ## Footnote This method is now widely used compared to the traditional barium enema.
289
True or false: Surgery is performed if reduction by air insufflation fails or if the child shows signs of **peritonitis**.
TRUE ## Footnote Surgery is necessary in these cases.
290
What percentage of **pre-school children** experience an episode of wheeze before 18 months?
25% ## Footnote Wheeze is extremely common in pre-school children.
291
What is one of the most common diagnoses made on **paediatric wards**?
Viral-induced wheeze ## Footnote There is ongoing debate regarding the classification and management of wheeze in this age group.
292
The **European Respiratory Society Task Force** classifies pre-school wheeze into which two groups?
* Episodic viral wheeze * Multiple trigger wheeze ## Footnote This classification helps in understanding the triggers and management of wheeze in children.
293
Define **episodic viral wheeze**.
Wheezes only during viral upper respiratory tract infections (URTI) and symptom-free in between episodes ## Footnote This type of wheeze is not associated with an increased risk of asthma later in life.
294
Define **multiple trigger wheeze**.
Wheezes triggered by viral URTIs and other factors such as exercise, allergens, and cigarette smoke ## Footnote A proportion of children with this type may develop asthma.
295
What should parents who are smokers be encouraged to do regarding their children's **wheeze**?
Stop smoking ## Footnote This is an important management step for children's respiratory health.
296
What is the **first-line treatment** for episodic viral wheeze?
* Short acting beta 2 agonists (e.g. salbutamol) * Anticholinergic via a spacer ## Footnote Treatment for episodic viral wheeze is symptomatic only.
297
What is the next step in treatment for **episodic viral wheeze** after first-line therapy?
* Intermittent leukotriene receptor antagonist (montelukast) * Intermittent inhaled corticosteroids * Both ## Footnote Oral prednisolone has little role in children who do not require hospital treatment.
298
For **multiple trigger wheeze**, what is the typical trial treatment duration for inhaled corticosteroids or leukotriene receptor antagonists?
4-8 weeks ## Footnote This trial helps determine the effectiveness of the treatment for the child.
299
By what age do the majority of children achieve **day and night time continence**?
3 or 4 years of age ## Footnote This is a typical developmental milestone for children.
300
Define **enuresis**.
Involuntary discharge of urine by day or night in a child aged 5 years or older ## Footnote This occurs in the absence of congenital or acquired defects of the nervous system or urinary tract.
301
What are the two types of **nocturnal enuresis**?
* Primary: child has never achieved continence * Secondary: child has been dry for at least 6 months before ## Footnote Understanding the type of enuresis is important for management.
302
List possible **underlying causes/triggers** for enuresis.
* Constipation * Diabetes mellitus * UTI if recent onset ## Footnote Identifying these causes is crucial for effective management.
303
What general advice is recommended for managing enuresis?
* Fluid intake * Toileting patterns: encourage to empty bladder regularly during the day and before sleep * Lifting and waking * Reward systems (e.g. Star charts) ## Footnote These strategies can help improve continence in children.
304
What do NICE guidelines recommend for reward systems in enuresis management?
Should be given for agreed behaviour rather than dry nights ## Footnote For example, using the toilet to pass urine before sleep.
305
What is an **enuresis alarm**?
A device with sensor pads that sense wetness ## Footnote It is generally first-line for children and has a high success rate.
306
When is **desmopressin** particularly indicated?
For short-term control (e.g. for sleepovers) or if an enuresis alarm has been ineffective ## Footnote It may also be used if the alarm is not acceptable to the family.
307
At **3 months**, what are the major speech and hearing developmental milestones?
* Quietens to parents' voice * Turns towards sound * Squeals ## Footnote These milestones indicate early auditory and vocal responses in infants.
308
At **6 months**, what speech milestone is typically observed?
Double syllables 'adah', 'erleh' ## Footnote This reflects the beginning of babbling and vocal experimentation.
309
At **9 months**, what are two key speech milestones?
* Says 'mama' and 'dada' * Understands 'no' ## Footnote These milestones show early word recognition and comprehension.
310
At **12 months**, what does a child typically know and respond to?
* Knows and responds to own name * Understands simple commands - 'give it to mummy' ## Footnote This indicates growing recognition and comprehension of language.
311
Between **12-15 months**, how many words does a child typically know?
About 2-6 words ## Footnote It is advised to refer to the child's vocabulary at **18 months**.
312
At **2 years**, what are two speech milestones a child typically achieves?
* Combine two words * Points to parts of the body ## Footnote This shows the beginning of sentence formation and body awareness.
313
At **2½ years**, what is the typical vocabulary size of a child?
200 words ## Footnote This reflects significant language development and vocabulary expansion.
314
At **3 years**, what are some speech milestones a child typically reaches?
* Talks in short sentences (e.g. 3-5 words) * Asks 'what' and 'who' questions * Identifies colours * Counts to 10 ## Footnote These milestones indicate more complex language use and cognitive development.
315
At **4 years**, what types of questions does a child typically ask?
* 'why' * 'when' * 'how' ## Footnote This reflects curiosity and the ability to engage in more complex conversations.
316
What is **Turner's syndrome**?
A chromosomal disorder affecting around 1 in 2,500 females ## Footnote Caused by the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes.
317
Turner's syndrome is denoted as _______ or _______.
45,XO or 45,X ## Footnote These notations indicate the chromosomal makeup associated with Turner's syndrome.
318
List some **features** of Turner's syndrome.
* Short stature * Shield chest, widely spaced nipples * Webbed neck * Bicuspid aortic valve (15%) * Coarctation of the aorta (5-10%) * Primary amenorrhoea * Cystic hygroma (often diagnosed prenatally) * High-arched palate * Short fourth metacarpal * Multiple pigmented naevi * Lymphoedema in neonates (especially feet) ## Footnote These features can vary in presentation among individuals with Turner's syndrome.
319
What are the most serious **long-term health problems** for women with Turner's syndrome?
* Increased risk of aortic dilatation * Aortic dissection ## Footnote Regular monitoring in adult life for these complications is an important component of care.
320
What is the common **renal abnormality** associated with Turner's syndrome?
Horseshoe kidney ## Footnote This is the most common renal abnormality found in individuals with Turner's syndrome.
321
True or false: **Hypothyroidism** is much more common in Turner's syndrome.
TRUE ## Footnote Individuals with Turner's syndrome have a higher incidence of hypothyroidism.
322
What happens to **gonadotrophin levels** in Turner's syndrome?
They will be elevated ## Footnote Elevated gonadotrophin levels are a characteristic finding in Turner's syndrome.
323
There is an increased incidence of **autoimmune disease** in Turner's syndrome, especially _______.
Autoimmune thyroiditis ## Footnote Crohn's disease is also noted to have increased incidence among individuals with Turner's syndrome.
324
What are **febrile convulsions**?
Seizures provoked by fever in otherwise normal children ## Footnote Typically occur between the ages of 6 months and 5 years and are seen in 3% of children.
325
When do febrile convulsions typically occur during a **viral infection**?
Early as the temperature rises rapidly ## Footnote Seizures are usually brief, lasting less than 5 minutes.
326
What type of seizure is most commonly associated with **febrile convulsions**?
Tonic-clonic ## Footnote These seizures are typically brief and last less than 5 minutes.
327
What are the **types of febrile convulsion**?
* Simple * Complex * Febrile status epilepticus ## Footnote Each type varies in duration and recurrence.
328
Define **simple febrile convulsion**.
Less than 15 minutes, generalized seizure, typically no recurrence within 24 hours ## Footnote Should have complete recovery within an hour.
329
Define **complex febrile convulsion**.
15 - 30 minutes, focal seizure, may have repeat seizures within 24 hours ## Footnote Recovery may vary.
330
Define **febrile status epilepticus**.
More than 30 minutes ## Footnote This type requires immediate medical attention.
331
What should be done following a **seizure** in a child?
Admit to paediatrics if it's the first seizure or has features of a complex seizure ## Footnote Ongoing management is crucial.
332
What should parents do if a seizure lasts more than **5 minutes**?
Phone for an ambulance ## Footnote Regular antipyretics have not been shown to reduce the chance of a febrile seizure.
333
What medication may be considered for **recurrent febrile convulsions**?
Benzodiazepine rescue medication ## Footnote Should only be started on the advice of a specialist.
334
What is the overall risk of further **febrile convulsion**?
1 in 3 ## Footnote This risk varies based on several factors.
335
List the **risk factors** for developing epilepsy after febrile convulsions.
* Family history of epilepsy * Complex febrile seizures * Background of neurodevelopmental disorder ## Footnote Children with no risk factors have a 2.5% risk of developing epilepsy.
336
What is the risk of developing epilepsy if children have all three risk factors?
Much higher, e.g., 50% ## Footnote This highlights the importance of monitoring children with febrile convulsions.
337
What does **meconium aspiration syndrome** refer to?
Respiratory distress in the newborn due to meconium in the trachea ## Footnote It occurs in the immediate neonatal period.
338
In which type of deliveries is **meconium aspiration syndrome** more common?
Post-term deliveries ## Footnote Rates of up to 44% are reported in babies born after 42 weeks.
339
What are the potential causes of **respiratory distress** in meconium aspiration syndrome?
* Maternal hypertension * Pre-eclampsia * Chorioamnionitis * Smoking * Substance abuse ## Footnote These factors are associated with higher rates of meconium aspiration syndrome.
340
True or false: **Meconium aspiration syndrome** can cause severe respiratory distress.
TRUE ## Footnote The condition can lead to significant respiratory complications in newborns.
341
What are the **contraindications to lumbar puncture** in children with suspected meningitis?
* Signs of raised ICP * Focal neurological signs * Papilloedema * Significant bulging of the fontanelle * Disseminated intravascular coagulation * Signs of cerebral herniation ## Footnote For patients with meningococcal septicaemia, a lumbar puncture is contraindicated.
342
In patients with **meningococcal septicaemia**, what should be obtained instead of a lumbar puncture?
* Blood cultures * PCR for meningococcus ## Footnote A lumbar puncture is contraindicated in these cases.
343
What is the recommended **antibiotic treatment** for children under 3 months with meningitis?
* IV amoxicillin (or ampicillin) * IV cefotaxime ## Footnote These antibiotics are crucial for managing bacterial meningitis in young children.
344
What is the recommended **antibiotic treatment** for children over 3 months with meningitis?
* IV cefotaxime (or ceftriaxone) ## Footnote These antibiotics are effective for treating bacterial meningitis in older children.
345
What does NICE advise regarding the use of **corticosteroids** in children younger than 3 months?
Against giving corticosteroids ## Footnote Dexamethasone should be considered if specific CSF findings are present.
346
Under what conditions should **dexamethasone** be considered in children with meningitis?
* Frankly purulent CSF * CSF white blood cell count > 1000/microlitre * Raised CSF white blood cell count with protein concentration > 1 g/litre * Bacteria on Gram stain ## Footnote These conditions indicate a severe infection where corticosteroids may be beneficial.
347
What is the management step for treating **shock** in children with meningitis?
Treat with colloid ## Footnote Fluids are essential in managing shock in these patients.
348
What is a critical aspect of **cerebral monitoring** in children with meningitis?
Mechanical ventilation if respiratory impairment ## Footnote Monitoring is essential to manage potential complications effectively.
349
What is the preferred antibiotic for **prophylaxis of contacts** in cases of meningococcal disease?
Ciprofloxacin ## Footnote Ciprofloxacin is now preferred over rifampicin for prophylaxis.
350
What is the typical age of presentation for **flat feet (pes planus)**?
All ages ## Footnote Typically resolves between the ages of 4-8 years. Orthotics are not recommended; parental reassurance is appropriate.
351
What is a common sign of **flat feet (pes planus)**?
Absent medial arch on standing ## Footnote This condition typically resolves between the ages of 4-8 years.
352
What are the possible causes of **in toeing** in children during their 1st year?
* Metatarsus adductus * Internal tibial torsion * Femoral anteversion ## Footnote 90% of cases resolve spontaneously; severe/persistent cases may require serial casting.
353
What is the typical resolution age for **internal tibial torsion**?
Resolves in the vast majority ## Footnote This condition is one of the causes of in toeing in children.
354
What is the typical age of presentation for **out toeing**?
All ages ## Footnote Common in early infancy and usually resolves by the age of 2 years, typically due to external tibial torsion.
355
What is the typical resolution age for **bow legs (genu varum)**?
Typically resolves by the age of 4-5 years ## Footnote This condition presents with increased intercondylar distance during the 1st-2nd year.
356
What is the typical age of presentation for **knock knees (genu valgum)**?
3rd-4th year ## Footnote This condition presents with increased intermalleolar distance and typically resolves spontaneously.
357
What intervention may be appropriate for **out toeing** if it doesn't resolve?
Intervention may be appropriate ## Footnote If it doesn't resolve, it increases the risk of patellofemoral pain.
358
What is **pyloric stenosis**?
A condition caused by hypertrophy of the circular muscles of the pylorus ## Footnote Typically presents in the second to fourth weeks of life with vomiting.
359
What is the **incidence** of pyloric stenosis?
4 per 1,000 live births ## Footnote It is 4 times more common in males.
360
What percentage of infants with pyloric stenosis have a **positive family history**?
10-15% ## Footnote First-borns are more commonly affected.
361
What type of vomiting is associated with pyloric stenosis?
'Projectile' vomiting, typically 30 minutes after a feed ## Footnote Constipation and dehydration may also be present.
362
What may be palpable in the upper abdomen of a patient with pyloric stenosis?
A palpable mass ## Footnote This is often associated with the condition.
363
What metabolic condition may result from persistent vomiting in pyloric stenosis?
Hypochloraemic, hypokalaemic alkalosis ## Footnote This occurs due to loss of gastric acid.
364
What is the most common method for **diagnosing** pyloric stenosis?
Ultrasound ## Footnote This imaging technique is typically used to confirm the diagnosis.
365
What is the **management** procedure for pyloric stenosis?
Ramstedt pyloromyotomy ## Footnote This surgical procedure is performed to relieve the obstruction.
366
What is the most likely **causative agent** of bacterial pneumonia in children?
S. pneumoniae ## Footnote This bacterium is commonly responsible for pneumonia cases in pediatric patients.
367
In what year did the **British Thoracic Society** publish guidelines on the management of community acquired pneumonia in childhood?
2011 ## Footnote These guidelines provide a framework for treating pneumonia in children.
368
What is the **first-line treatment** for all children with pneumonia?
Amoxicillin ## Footnote This antibiotic is recommended as the initial therapy for pediatric pneumonia.
369
When should **macrolides** be added to pneumonia treatment?
* If there is no response to first-line therapy * If mycoplasma or chlamydia is suspected ## Footnote Macrolides are used to target specific bacterial infections when necessary.
370
What is recommended for pneumonia associated with **influenza**?
Co-amoxiclav ## Footnote This combination antibiotic is suggested for treating pneumonia in the context of influenza infection.
371
At what age can a **young person** be treated as an adult and presumed to have capacity to decide?
16 years or older ## Footnote A young person at this age can make their own medical decisions.
372
Under what age may children have capacity to decide based on their understanding?
Under 16 years ## Footnote Capacity to decide depends on the child's ability to understand what is involved.
373
What can authorize treatment for a **competent child** who refuses it?
* A person with parental responsibility * The court ## Footnote This authorization must be in the child's best interests.
374
What are the **Fraser Guidelines** requirements for providing contraceptives to patients under 16 years of age?
* The young person understands the professional's advice * The young person cannot be persuaded to inform their parents * The young person is likely to begin or continue having sexual intercourse * Without treatment, their physical or mental health is likely to suffer * Their best interests require contraceptive advice or treatment ## Footnote All these requirements must be fulfilled for contraceptive provision.
375
What does the term **Fraser competency** refer to?
Contraception ## Footnote It is used when discussing the provision of contraceptives to minors.
376
What does the term **Gillick competency** refer to?
General issues of consent in children ## Footnote This term is often used interchangeably with Fraser competency.
377
True or false: In Scotland, those with parental responsibility can authorize procedures a competent child has refused.
FALSE ## Footnote In Scotland, a competent child's refusal cannot be overridden by parental authority.
378
Who debunked the rumors regarding **Victoria Gillick** and the use of her name?
Recent investigations ## Footnote The rumors about her removing permission or applying copyright have been proven false.
379
What is **hypotonia** commonly referred to as?
floppiness ## Footnote Hypotonia may be central in origin or related to nerve and muscle problems.
380
An acutely ill child may be hypotonic on examination due to conditions such as _______.
septicaemic ## Footnote This indicates that hypotonia can be a sign of serious underlying health issues.
381
Hypotonia associated with **encephalopathy** in the newborn period is most likely caused by _______.
hypoxic ischaemic encephalopathy ## Footnote This condition occurs due to a lack of oxygen to the brain.
382
Name a **central cause** of hypotonia.
* Down's syndrome * Prader-Willi syndrome * hypothyroidism * cerebral palsy ## Footnote In cerebral palsy, hypotonia may precede the development of spasticity.
383
List two **neurological and muscular problems** that can cause hypotonia.
* spinal muscular atrophy * spina bifida * Guillain-Barre syndrome * myasthenia gravis * muscular dystrophy * myotonic dystrophy ## Footnote These conditions affect muscle strength and control.
384
What is **patent ductus arteriosus** classified as?
A form of congenital heart defect ## Footnote Generally classed as 'acyanotic', but can lead to late cyanosis in lower extremities if uncorrected.
385
What is the connection in **patent ductus arteriosus**?
Between the pulmonary trunk and descending aorta ## Footnote Usually closes with the first breaths due to increased pulmonary flow.
386
What are common **features** of patent ductus arteriosus?
* Left subclavicular thrill * Continuous 'machinery' murmur * Large volume, bounding, collapsing pulse * Wide pulse pressure * Heaving apex beat ## Footnote These features are indicative of the condition.
387
What is the management recommendation for **preterm infants** with patent ductus arteriosus?
Initial expectant supportive care ## Footnote Spontaneous closure often occurs; pharmacological closure is recommended if hemodynamically significant PDA remains.
388
What pharmacological agents are used for **closure** of patent ductus arteriosus in preterm infants?
* Ibuprofen * Indomethacin * Paracetamol ## Footnote These inhibit prostaglandin synthesis and are given to the infant, not the mother.
389
What are the **indications for closure** of patent ductus arteriosus in term infants and children?
* Moderate or large PDA * Prior episode of endocarditis * Small audible PDA ## Footnote Transcatheter PDA closure is preferred over pharmacological therapy in these cases.
390
What is the technique recommended for **closure** of patent ductus arteriosus in term infants?
Transcatheter PDA closure ## Footnote Pharmacological therapy (ibuprofen/indomethacin) is not effective in term infants.
391
What is the role of **prostaglandin E1** in relation to patent ductus arteriosus?
Keeps the duct open until after surgical repair ## Footnote Useful if the PDA is associated with another congenital heart defect amenable to surgery.
392
What is the common presentation in General Practice for children complaining of **pain in the legs**?
'Growing pains' ## Footnote This term is a misnomer as the pains are often not related to growth; the current term used is 'benign idiopathic nocturnal limb pains of childhood'.
393
In what age range do **growing pains** typically occur?
3-12 years ## Footnote Growing pains are equally common in boys and girls.
394
List the **features of growing pains**.
* Never present at the start of the day after waking * No limp * No limitation of physical activity * Systemically well * Normal physical examination * Motor milestones normal * Symptoms are often intermittent and worse after vigorous activity ## Footnote These features help differentiate growing pains from other causes of leg pain.
395
What is the **Apgar score** used for?
To assess the clinical condition of a newborn immediately after birth ## Footnote It helps determine whether the baby needs immediate medical attention.
396
When does NICE recommend assessing the **Apgar score**?
At 1 and 5 minutes after birth ## Footnote If the score is less than 7 at 5 minutes, assessment continues every 5 minutes for up to 20 minutes.
397
What does the acronym **APGAR** stand for?
* Activity (muscle tone) * Pulse (heart rate) * Grimace (reflex irritability) * Appearance (skin colour) * Respiratory effort ## Footnote This acronym helps healthcare professionals recall each component of the assessment.
398
What is the **score** for 'Active movement' in the Apgar assessment?
2 ## Footnote This indicates good muscle tone.
399
What does a score of **0–3** on the Apgar scale indicate?
Critically low – requires immediate resuscitation ## Footnote This score range signifies a need for urgent medical intervention.
400
What does a score of **4–6** on the Apgar scale indicate?
Moderately low – may require medical support ## Footnote This score suggests that the newborn may need additional care.
401
What does a score of **7–10** on the Apgar scale indicate?
Generally reassuring – good adaptation to extrauterine life ## Footnote This score range reflects a healthy newborn.
402
Fill in the blank: The Apgar score assesses **Activity**, **Pulse**, **Grimace**, **Appearance**, and _______.
Respiratory effort ## Footnote These components are critical for evaluating a newborn's health.
403
What is the **score** for 'Flaccid' in the Apgar assessment?
0 ## Footnote This indicates absent muscle tone.
404
What does **infantile colic** describe?
A common and benign set of symptoms in young infants ## Footnote Characterized by excessive crying and pulling-up of the legs, often worse in the evening.
405
Infantile colic typically occurs in infants less than _______ months old.
3 ## Footnote It is a condition seen in young infants.
406
Up to **what percentage** of infants experience infantile colic?
20% ## Footnote This indicates that it is a relatively common condition.
407
Is the exact cause of **infantile colic** known?
No ## Footnote The cause is unknown, but it is a self-limiting condition.
408
Infantile colic usually resolves by _______ months.
5 ## Footnote This indicates that the condition is typically temporary.
409
True or false: NICE recommends the use of **simeticone** or **lactase** drops for treating infantile colic.
FALSE ## Footnote NICE does not recommend the use of these drops.
410
What is **Transposition of the great arteries** (TGA)?
A form of cyanotic congenital heart disease ## Footnote TGA is caused by the failure of the aorticopulmonary septum to spiral during septation.
411
What maternal condition increases the risk of **Transposition of the great arteries**?
Diabetes ## Footnote Children of diabetic mothers are at an increased risk of TGA.
412
Name the **basic anatomical changes** in TGA.
* Aorta leaves the right ventricle * Pulmonary trunk leaves the left ventricle ## Footnote These changes result in improper circulation of blood.
413
List the **clinical features** of Transposition of the great arteries.
* Cyanosis * Tachypnoea * Loud single S2 * Prominent right ventricular impulse * 'Egg-on-side' appearance on chest x-ray ## Footnote These features help in the clinical diagnosis of TGA.
414
What is the initial **management** for Transposition of the great arteries?
Maintenance of the ductus arteriosus with prostaglandins ## Footnote This is crucial to ensure some mixing of oxygenated and deoxygenated blood.
415
What is the **definite treatment** for Transposition of the great arteries?
Surgical correction ## Footnote Surgical intervention is necessary to correct the anatomical defect.
416
What can **congenital heart disease** cause in relation to bronchiolitis?
More severe bronchiolitis ## Footnote This indicates a potential complication where congenital heart disease exacerbates the severity of bronchiolitis.
417
What is the purpose of **antenatal checks** in child health surveillance in the UK?
* Ensure intrauterine growth * Check for maternal infections (e.g. HIV) * Ultrasound scan for fetal abnormalities * Blood tests for Neural Tube Defects ## Footnote These checks are crucial for monitoring the health of both the mother and the fetus.
418
What is included in the **newborn health checks**?
* Clinical examination of newborn * Newborn Hearing Screening Programme (e.g. oto-acoustic emissions test) * Personal Child Health Record given to mother ## Footnote These checks help to identify any immediate health concerns in newborns.
419
What tests are performed during the **first month** of a child's life?
* Heel-prick test (day 5-9) for hypothyroidism, PKU, metabolic diseases, cystic fibrosis, MCADD * Midwife visit up to 4 weeks* ## Footnote The heel-prick test screens for several serious conditions, while midwife visits are intended for ongoing support.
420
What happens during the **following months** after birth?
* Health visitor input * GP examination at 6-8 weeks * Routine immunisations ## Footnote These steps are essential for ongoing health monitoring and vaccination.
421
What is the **pre-school health check** program in the UK?
National orthoptist-led programme for pre-school vision screening to be introduced ## Footnote This program aims to identify vision problems early in children.
422
What ongoing checks are part of child health surveillance?
* Monitoring of growth * Monitoring of vision * Monitoring of hearing * Health professionals' advice on immunisations, diet, accident prevention ## Footnote These ongoing checks ensure that children continue to develop healthily.
423
What are the core reviews mandated by the **Healthy Child Programme** in the UK?
* 5-14 days (newborn) * 6-8 weeks * 9-12 months * 2-2.5 years ## Footnote These reviews are critical for assessing the child's development and health at key stages.
424
What percentage of **7-year-olds** have experienced at least one headache?
up to 50 per cent ## Footnote This statistic highlights the prevalence of headaches in young children.
425
What percentage of **15-year-olds** have experienced at least one headache?
up to 80 per cent ## Footnote This indicates a significant increase in headache prevalence during adolescence.
426
Before puberty, headaches are equally common in **boys and girls**. What is the ratio of female preponderance after puberty?
3:1 ## Footnote This reflects a strong increase in migraine prevalence among females post-puberty.
427
What is the most common cause of **primary headache** in children?
Migraine without aura ## Footnote This type of migraine is prevalent among pediatric populations.
428
According to the International Headache Society, how many attacks must a child have to fulfill the criteria for **paediatric migraine without aura**?
>= 5 attacks ## Footnote This is a key criterion for diagnosing migraine in children.
429
What is the duration of a **headache attack** to meet the criteria for paediatric migraine?
4-72 hours ## Footnote This duration is critical for classification as a migraine attack.
430
Name at least two features that must accompany a headache to meet the criteria for **paediatric migraine**.
* Nausea and/or vomiting * Photophobia and phonophobia ## Footnote These features help differentiate migraines from other headache types.
431
What is considered more effective for **paediatric migraine**, ibuprofen or paracetamol?
ibuprofen ## Footnote This suggests a preferred choice for acute management of migraines in children.
432
What is the only licensed **triptan** for children aged 12 years and older?
sumatriptan nasal spray ## Footnote This triptan has proven efficacy but may be poorly tolerated by young patients.
433
What are some **side effects** of triptans?
* Tingling * Heat * Heaviness/pressure sensations ## Footnote These side effects can affect patient compliance with treatment.
434
What are the first-line **preventatives** for migraine in children according to the GOSH website?
* Pizotifen * Propranolol ## Footnote These medications are recommended despite limited evidence.
435
What is the second most common cause of **headache** in children?
Tension-type headache (TTH) ## Footnote This type of headache is prevalent after migraines.
436
According to the IHS, how many previous headache episodes must a child have to meet the criteria for **Tension-type headache (TTH)**?
At least 10 previous headache episodes ## Footnote This is a diagnostic criterion for TTH.
437
What is the duration of a **TTH** headache?
30 minutes to 7 days ## Footnote This duration helps distinguish TTH from other headache types.
438
Name at least two **pain characteristics** of TTH.
* Pressing/tightening quality * Mild or moderate intensity ## Footnote These characteristics help in diagnosing TTH.
439
True or false: Tension-type headaches are aggravated by routine physical activity.
FALSE ## Footnote TTH does not typically worsen with physical activity.
440
What must be absent for a headache to be classified as **Tension-type headache (TTH)**?
* No nausea or vomiting * Photophobia and phonophobia, or one, but not the other is present ## Footnote These criteria help differentiate TTH from migraines.
441
What are the **presenting features** of cystic fibrosis during the neonatal period?
* Meconium ileus * Prolonged jaundice ## Footnote Around 20% of patients present with these features during the neonatal period.
442
What percentage of cystic fibrosis patients experience **recurrent chest infections**?
40% ## Footnote This is one of the common presenting features of cystic fibrosis.
443
What are the **malabsorption** features associated with cystic fibrosis?
* Steatorrhoea * Failure to thrive ## Footnote Approximately 30% of patients experience these malabsorption issues.
444
What are some **other features** of cystic fibrosis that occur in patients?
* Liver disease-about 10% * Short stature * Diabetes mellitus * Delayed puberty * Rectal prolapse * Nasal polyps * Male infertility * Female subfertility ## Footnote These features can vary among patients.
445
True or false: Around **5%** of cystic fibrosis patients are diagnosed after the age of 18 years.
TRUE ## Footnote Many patients are identified during newborn screening or early childhood.
446
What is **cerebral palsy** defined as?
A disorder of movement and posture due to a non-progressive lesion of the motor pathways in the developing brain ## Footnote It affects 2 in 1,000 live births and is the most common cause of major motor impairment.
447
What percentage of cerebral palsy cases are caused by **antenatal** factors?
80% ## Footnote Examples include cerebral malformation and congenital infections like rubella, toxoplasmosis, and CMV.
448
What are the **three main causes** of cerebral palsy?
* Antenatal (80%) * Intrapartum (10%) * Postnatal (10%) ## Footnote Intrapartum causes include birth asphyxia/trauma, while postnatal causes include intraventricular hemorrhage, meningitis, and head trauma.
449
List possible **manifestations** of cerebral palsy.
* Abnormal tone in early infancy * Delayed motor milestones * Abnormal gait * Feeding difficulties ## Footnote Children may also experience associated non-motor problems.
450
What percentage of children with cerebral palsy experience **learning difficulties**?
60% ## Footnote Other associated non-motor problems include epilepsy (30%), squints (30%), and hearing impairment (20%).
451
What is the most common **classification** of cerebral palsy?
Spastic (70%) ## Footnote Subtypes include hemiplegia, diplegia, or quadriplegia, characterized by increased tone resulting from damage to upper motor neurons.
452
What type of cerebral palsy is caused by damage to the **basal ganglia** and the substantia nigra?
Dyskinetic ## Footnote This type is characterized by athetoid movements and oro-motor problems.
453
What type of cerebral palsy is associated with damage to the **cerebellum**?
Ataxic ## Footnote This type presents with typical cerebellar signs.
454
What is a key aspect of **management** for children with cerebral palsy?
A multidisciplinary approach ## Footnote Treatments for spasticity include oral diazepam, oral and intrathecal baclofen, botulinum toxin type A, orthopedic surgery, and selective dorsal rhizotomy.
455
Fill in the blank: Treatments for spasticity include **_______**, oral and intrathecal baclofen, botulinum toxin type A, orthopedic surgery, and selective dorsal rhizotomy.
oral diazepam ## Footnote A comprehensive management plan is essential for children with chronic conditions like cerebral palsy.
456
At **3 months**, what are the fine motor and vision developmental milestones?
* Reaches for object * Holds rattle briefly if given to hand * Visually alert, particularly human faces * Fixes and follows to 180 degrees ## Footnote These milestones indicate early engagement with the environment and visual tracking abilities.
457
At **6 months**, what fine motor skills are typically observed?
* Holds in palmar grasp * Pass objects from one hand to another * Visually insatiable, looking around in every direction ## Footnote This stage shows increased hand coordination and visual exploration.
458
At **9 months**, what are the key fine motor and vision milestones?
* Points with finger * Early pincer ## Footnote Pointing indicates communication development, while the early pincer grasp shows fine motor skill advancement.
459
At **12 months**, what fine motor skills should a child demonstrate?
* Good pincer grip * Bangs toys together ## Footnote These skills reflect improved dexterity and the ability to manipulate objects.
460
At **15 months**, how many blocks should a child be able to stack?
Tower of 2 ## Footnote This milestone indicates the beginning of constructive play.
461
At **18 months**, what is the expected tower height a child can build?
Tower of 3 ## Footnote This reflects growing fine motor skills and hand-eye coordination.
462
At **2 years**, how many blocks should a child be able to stack?
Tower of 6 ## Footnote This milestone shows significant improvement in fine motor skills.
463
At **3 years**, what is the expected tower height a child can build?
Tower of 9 ## Footnote This indicates advanced fine motor skills and spatial awareness.
464
At **18 months**, what drawing milestone is typically achieved?
Circular scribble ## Footnote This represents the beginning of creative expression through drawing.
465
At **2 years**, what drawing skill should a child be able to copy?
Copies vertical line ## Footnote This milestone indicates developing control over writing instruments.
466
At **3 years**, what shape should a child be able to copy?
Copies circle ## Footnote This shows further development in fine motor skills and shape recognition.
467
At **4 years**, what is a drawing milestone for children?
Copies cross ## Footnote This indicates increased precision in drawing and understanding of shapes.
468
At **5 years**, what shapes should a child be able to copy?
* Copies square * Copies triangle ## Footnote Mastery of these shapes reflects advanced fine motor skills.
469
At **15 months**, what is a child's interaction with books?
* Looks at book, pats page ## Footnote This shows early interest in reading and exploration of books.
470
At **18 months**, how does a child typically interact with pages of a book?
Turns pages, several at a time ## Footnote This indicates developing fine motor skills and curiosity about stories.
471
At **2 years**, how does a child turn pages in a book?
Turns pages, one at a time ## Footnote This reflects improved dexterity and understanding of book handling.
472
What is considered **abnormal** regarding hand preference before 12 months?
Hand preference before 12 months is abnormal ## Footnote It may indicate cerebral palsy or other developmental issues.
473
What is the **classical definition** of nephrotic syndrome?
* Proteinuria (> 1 g/m^2 per 24 hours) * Hypoalbuminaemia (< 25 g/l) * Oedema ## Footnote These three features are essential for the diagnosis of nephrotic syndrome.
474
What is the **peak incidence age** for nephrotic syndrome in children?
Between 2 and 5 years of age ## Footnote This age range is when nephrotic syndrome is most commonly diagnosed in children.
475
What condition accounts for around **80% of nephrotic syndrome cases** in children?
Minimal change glomerulonephritis ## Footnote This condition is often associated with a good prognosis.
476
What is the typical **response rate** to high-dose oral steroids in nephrotic syndrome cases?
Around 90% ## Footnote Most children with nephrotic syndrome respond well to steroid treatment.
477
List the **other features** associated with nephrotic syndrome.
* Hyperlipidaemia * Hypercoagulable state (due to loss of antithrombin III) * Predisposition to infection (due to loss of immunoglobulins) ## Footnote These features can complicate the clinical picture of nephrotic syndrome.
478
What are the **innocent murmurs** heard in children?
* Ejection murmurs * Venous hums * Still's murmur ## Footnote These murmurs are typically benign and often resolve without intervention.
479
What causes **ejection murmurs** in children?
Turbulent blood flow at the outflow tract of the heart ## Footnote Ejection murmurs are common and usually harmless.
480
What is a **venous hum**?
Turbulent blood flow in the great veins returning to the heart, heard as a continuous blowing noise just below the clavicles ## Footnote Venous hums are typically benign and can be observed in children.
481
Describe **Still's murmur**.
Low-pitched sound heard at the lower left sternal edge ## Footnote Still's murmur is a common innocent murmur in children.
482
List the **characteristics of an innocent ejection murmur**.
* Soft-blowing murmur in the pulmonary area or short buzzing murmur in the aortic area * May vary with posture * Localised with no radiation * No diastolic component * No thrill * No added sounds (e.g. clicks) * Asymptomatic child * No other abnormality ## Footnote These characteristics help differentiate innocent murmurs from pathological ones.
483
What is the **traffic light system** introduced by the 2007 NICE guidelines for feverish illness in children under 5 years?
* Green - low risk * Amber - intermediate risk * Red - high risk ## Footnote This system is used for risk stratification of children presenting with a fever.
484
What should be recorded in all **febrile children**?
* Temperature * Heart rate * Respiratory rate * Capillary refill time ## Footnote Signs of dehydration should also be assessed.
485
How should temperature be measured in children under **4 weeks**?
With an electronic thermometer in the axilla ## Footnote For older children, an electronic/chemical dot thermometer or an infra-red tympanic thermometer can be used.
486
What does a **green** risk stratification indicate?
* Normal colour * Responds normally to social cues * Content/smiles * Stays awake or awakens quickly * Strong normal cry/not crying ## Footnote This indicates low risk for the child.
487
What does an **amber** risk stratification indicate?
* Pallor reported by parent/carer * Not responding normally to social cues * No smile * Wakes only with prolonged stimulation * Decreased activity ## Footnote This indicates intermediate risk for the child.
488
What does a **red** risk stratification indicate?
* Pale/mottled/ashen/blue * No response to social cues * Appears ill to a healthcare professional * Does not wake or if roused does not stay awake * Weak, high-pitched or continuous cry ## Footnote This indicates high risk for the child.
489
What is the management for a child classified as **green**?
Managed at home with appropriate care advice ## Footnote Includes information on when to seek further help.
490
What should be done if a child is classified as **amber**?
* Provide parents with a safety net * Refer to a paediatric specialist for further assessment ## Footnote A safety net includes verbal or written information on warning symptoms.
491
What is the action for a child classified as **red**?
Refer child urgently to a paediatric specialist ## Footnote This indicates immediate medical attention is required.
492
True or false: **Oral antibiotics** should be prescribed to children with fever without apparent source.
FALSE ## Footnote Antibiotics should not be prescribed in such cases.
493
If pneumonia is suspected but the child is not referred to hospital, a **chest x-ray** does not need to be routinely performed.
TRUE ## Footnote This is a key point in the management of febrile children.
494
If a child with a **limp/hip pain** has a fever, they should be referred for _______ assessment.
same-day ## Footnote This is important even if a diagnosis of transient synovitis is suspected.
495
What is the **previously called** name for neonatal blood spot screening?
Guthrie test or 'heel-prick test' ## Footnote This screening is performed at 5-9 days of life.
496
At what age is **neonatal blood spot screening** performed?
5-9 days of life ## Footnote This test is crucial for early detection of certain conditions.
497
Name one of the **conditions** currently screened for in neonatal blood spot screening.
* Congenital hypothyroidism * Cystic fibrosis * Sickle cell disease * Phenylketonuria * Medium chain acyl-CoA dehydrogenase deficiency (MCADD) * Maple syrup urine disease (MSUD) * Isovaleric acidaemia (IVA) * Glutaric aciduria type 1 (GA1) * Homocystinuria (pyridoxine unresponsive) (HCU) ## Footnote These conditions are critical for early intervention and management.
498
True or false: **Neonatal blood spot screening** is performed at birth.
FALSE ## Footnote The screening is conducted at 5-9 days of life, not at birth.
499
What is **Immune thrombocytopenia (ITP)**?
An immune-mediated reduction in the platelet count ## Footnote Antibodies are directed against the glycoprotein IIb/IIIa or Ib-V-IX complex. It is an example of a type II hypersensitivity reaction.
500
ITP in children is typically more **acute** than in which group?
Adults ## Footnote ITP in children may follow an infection or vaccination.
501
List the **features** of ITP in children.
* Bruising * Petechial or purpuric rash * Bleeding (less common, typically epistaxis or gingival bleeding) ## Footnote These features help in identifying ITP in pediatric patients.
502
What does a **full blood count** in ITP typically demonstrate?
Isolated thrombocytopenia ## Footnote This finding is crucial for diagnosing ITP.
503
When is a **bone marrow examination** required in ITP?
If there are atypical features such as: * Lymph node enlargement/splenomegaly * High/low white cells * Failure to resolve/respond to treatment ## Footnote These atypical features may indicate other underlying conditions.
504
True or false: **ITP** usually requires treatment in children.
FALSE ## Footnote ITP resolves in around 80% of children within 6 months, with or without treatment.
505
What advice is given to children with ITP regarding activities?
Avoid activities that may result in trauma (e.g. team sports) ## Footnote This precaution helps prevent bleeding complications.
506
What are the **treatment options** for very low platelet counts (< 10 * 10^9/L) or significant bleeding in ITP?
* Oral/IV corticosteroid * IV immunoglobulins * Platelet transfusions (temporary measure) ## Footnote Platelet transfusions are used in emergencies but are soon destroyed by circulating antibodies.
507
What condition is associated with a **distended abdomen** and the passage of **red current jelly stool**?
intussusception ## Footnote This condition typically occurs in older children aged 5 months to 12 months.
508
In the case of **intussusception**, what is the likely initial investigation?
ultrasound scan ## Footnote The ultrasound scan may show a target sign.
509
What is **Phenylketonuria (PKU)** characterized by?
* Can’t break down phenylalanine * Phenylalanine builds up * Can cause brain damage if untreated ## Footnote Clues include musty-smelling urine, fair skin, and developmental delay.
510
What is the problem associated with **Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)**?
* Can’t burn medium-chain fats for energy * Low blood sugar (hypoglycemia) during fasting or illness ## Footnote Clues include vomiting, lethargy, and it can be life-threatening if not fed regularly.
511
What is the effect of **Maple syrup urine disease (MSUD)**?
* Can’t break down branched-chain amino acids * Amino acids build up → toxic to the brain ## Footnote Clues include urine smells like maple syrup, poor feeding, vomiting, and lethargy.
512
What is the problem in **Isovaleric acidaemia (IVA)**?
* Can’t break down leucine properly * Build-up of isovaleric acid → toxic to the body ## Footnote Clues include smelly “sweaty feet” odor, vomiting, and lethargy.
513
What does **Glutaric aciduria type 1 (GA1)** prevent the breakdown of?
* Lysine * Hydroxylysine * Tryptophan ## Footnote Effect includes build-up of glutaric acid → damages brain, especially basal ganglia. Clues include large head, weak muscles, and risk of sudden dystonic movements after illness.
514
What is the effect of **Homocystinuria (HCU, pyridoxine unresponsive)**?
* Can’t break down homocysteine * Homocysteine builds up → affects eyes, skeleton, blood vessels, brain ## Footnote Clues include marfanoid habitus, lens dislocation, risk of blood clots, and learning difficulties.
515
What is **patent ductus arteriosus**?
A form of congenital heart defect ## Footnote Generally classed as 'acyanotic', but can lead to late cyanosis in lower extremities if uncorrected.
516
What is the **connection** in patent ductus arteriosus?
Between the pulmonary trunk and descending aorta ## Footnote The ductus arteriosus usually closes with the first breaths due to increased pulmonary flow.
517
What are the **common risk factors** for patent ductus arteriosus?
* Premature babies * Born at high altitude * Maternal rubella infection in the first trimester ## Footnote These factors increase the likelihood of developing PDA.
518
What are the **clinical features** of patent ductus arteriosus?
* Left subclavicular thrill * Continuous 'machinery' murmur * Large volume, bounding, collapsing pulse * Wide pulse pressure * Heaving apex beat ## Footnote These features help in the diagnosis of PDA.
519
What is the initial management recommendation for **preterm infants** with patent ductus arteriosus?
Initial expectant supportive care ## Footnote Spontaneous closure often occurs, so early pharmacologic therapy is not always necessary.
520
What pharmacological agents are used for **pharmacological closure** of patent ductus arteriosus?
* Ibuprofen * Indomethacin * Paracetamol ## Footnote These inhibit prostaglandin synthesis and are given to the infant, not the mother.
521
What are the **indications for closure** in term infants and children with patent ductus arteriosus?
* Moderate or large PDA * Prior episode of endocarditis * Small audible PDA ## Footnote Closure is typically done using transcatheter PDA closure rather than pharmacological therapy.
522
What is the role of **prostaglandin E1** in the context of patent ductus arteriosus?
Keeps the duct open until after surgical repair ## Footnote This is particularly useful if PDA is associated with another congenital heart defect amenable to surgery.
523
What is the **most common malignancy** affecting children?
Acute lymphoblastic leukaemia (ALL) ## Footnote ALL accounts for 80% of childhood leukaemias.
524
At what age is the **peak incidence** of Acute lymphoblastic leukaemia (ALL)?
2–5 years of age ## Footnote Boys are affected slightly more commonly than girls.
525
List the **predictable features** of bone marrow failure in ALL.
* Anaemia: lethargy and pallor * Neutropenia: frequent or severe infections * Thrombocytopenia: easy bruising, petechiae ## Footnote These features arise due to bone marrow failure.
526
What are some **other features** of Acute lymphoblastic leukaemia (ALL)?
* Bone pain (secondary to bone marrow infiltration) * Splenomegaly * Hepatomegaly * Fever (present in up to 50% of new cases) * Testicular swelling ## Footnote Fever may represent infection or a constitutional symptom.
527
What percentage of ALL cases are classified as **common ALL**?
75% ## Footnote Common ALL is characterized by the presence of CD10 and a pre-B phenotype.
528
What are the **types of Acute lymphoblastic leukaemia (ALL)**?
* Common ALL (75%) * T-cell ALL (20%) * B-cell ALL (5%) ## Footnote Each type has distinct characteristics and prevalence.
529
List the **poor prognostic factors** for Acute lymphoblastic leukaemia (ALL).
* Age < 2 years or > 10 years * WBC > 20 * 10^9/l at diagnosis * T or B cell surface markers * Non-white ethnicity * Male sex ## Footnote These factors can negatively impact the prognosis of ALL.
530
What does a **full blood count** typically show in ALL?
* Leucocytosis or sometimes normal/low WBC * Anaemia * Thrombocytopenia ## Footnote These findings are indicative of bone marrow involvement.
531
What is the purpose of a **bone marrow biopsy** in ALL?
Confirms diagnosis and allows immunophenotyping ## Footnote It is essential for accurate diagnosis and treatment planning.
532
What is assessed through a **lumbar puncture** in ALL?
CNS involvement ## Footnote This test helps evaluate if the leukaemia has affected the central nervous system.
533
What is the primary **management** strategy for Acute lymphoblastic leukaemia (ALL)?
Chemotherapy ## Footnote Management includes induction, consolidation, and maintenance phases.
534
What is the aim of the **induction phase** in ALL treatment?
Achieve remission ## Footnote This phase lasts 4-6 weeks and involves specific chemotherapy drugs.
535
List the drugs used in the **induction phase** of ALL treatment.
* Vincristine * Steroids * L-asparaginase * Anthracyclines ## Footnote These drugs are critical for achieving remission.
536
What are some **complications** of the induction phase in ALL treatment?
* Tumour lysis syndrome * Myelosuppression * Steroid effects ## Footnote These complications can arise during the treatment process.
537
What is the aim of the **consolidation phase** in ALL treatment?
Eradicate residual disease ## Footnote This phase may last weeks to months.
538
List the drugs used in the **consolidation phase** of ALL treatment.
* High-dose methotrexate * Vincristine * Mercaptopurine * Intrathecal chemotherapy for CNS prophylaxis ## Footnote These drugs help to eliminate any remaining cancer cells.
539
What are some **complications** of the consolidation phase in ALL treatment?
* Methotrexate toxicity * Haemorrhagic cystitis * Neurotoxicity ## Footnote These complications can occur due to the aggressive nature of the treatment.
540
What is the aim of the **maintenance phase** in ALL treatment?
Prevent relapse ## Footnote This phase lasts 2-3 years.
541
List the drugs used in the **maintenance phase** of ALL treatment.
* Mercaptopurine * Methotrexate * Vincristine/steroid pulses ## Footnote These drugs are used to maintain remission and prevent relapse.
542
What are some **complications** of the maintenance phase in ALL treatment?
* Hepatotoxicity * Myelosuppression * Poor adherence ## Footnote These complications can affect the long-term management of the disease.
543
What is included in **supportive care** for ALL management?
* Blood product support * Infection prophylaxis ## Footnote Supportive care is crucial for managing side effects and complications.
544
What treatment may be considered in **selected high-risk cases** of ALL?
Haematopoietic stem cell transplantation ## Footnote This option is reserved for patients with poor prognostic factors.
545
What is the **most common cause** of cyanotic congenital heart disease?
Tetralogy of Fallot (TOF) ## Footnote TOF typically presents at around 1-2 months, although it may not be detected until the baby is 6 months old.
546
What are the **four characteristic features** of Tetralogy of Fallot?
* Ventricular septal defect (VSD) * Right ventricular hypertrophy * Right ventricular outflow tract obstruction (pulmonary stenosis) * Overriding aorta ## Footnote TOF results from anterior malalignment of the aorticopulmonary septum.
547
The severity of the **right ventricular outflow tract obstruction** determines what?
The degree of cyanosis and clinical severity ## Footnote This is a critical factor in assessing the condition of patients with TOF.
548
What are **tet spells** in unrepaired TOF infants?
* Episodic hypercyanotic spells * Tachypnoea * Severe cyanosis * Possible loss of consciousness ## Footnote Tet spells typically occur when an infant is upset, in pain, or has a fever.
549
True or false: A **right-to-left shunt** occurs in Tetralogy of Fallot.
TRUE ## Footnote This shunt is caused by the right ventricular outflow tract obstruction.
550
What type of murmur is associated with **pulmonary stenosis** in TOF?
Ejection systolic murmur ## Footnote The VSD usually does not cause a murmur.
551
What percentage of patients with TOF may have a **right-sided aortic arch**?
25% ## Footnote This is a notable anatomical variation seen in some patients.
552
What does a **chest x-ray** typically show in patients with TOF?
'Boot-shaped' heart ## Footnote This radiographic finding is characteristic of Tetralogy of Fallot.
553
What does an **ECG** show in patients with Tetralogy of Fallot?
Right ventricular hypertrophy ## Footnote This finding is consistent with the structural changes in the heart.
554
How is the **surgical repair** of TOF typically undertaken?
In two parts ## Footnote This approach is common in managing the condition surgically.
555
What medication may help with **cyanotic episodes** in TOF patients?
Beta-blockers ## Footnote These can reduce infundibular spasm during cyanotic episodes.
556
At birth, what is the more common lesion than TOF?
Transposition of the great arteries ## Footnote Patients with TOF generally present later, around 1-2 months.
557
Attention Deficit Hyperactivity Disorder
558
March 2018 saw NICE issue new guidance around recognising and managing attention deficit hyperactivity disorder (ADHD). This condition can inflict significant morbidity on a child's life and thus has consequences into adulthood
making good diagnosis and treatment vital.
559
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. For children up to the age of 16 years
560
Epidemiology
561
ADHD has a UK prevalence of 2.4%
about twice that of autism
562
Most children are diagnosed between the ages of 3 and 7;
563
There is a possible genetic component.
564
Diagnostic Features
565
Inattention Hyperactivity/Impulsivity
566
Does not follow through on instructions Unable to play quietly
567
Reluctant to engage in mentally-intense tasks Talks excessively
568
Easily distracted Does not wait their turn easily
569
Finds it difficult to sustain tasks Will spontaneously leave their seat when expected to sit
570
Finds it difficult to organise tasks or activities Is often 'on the go'
571
Often forgetful in daily activities Often interruptive or intrusive to others
572
Often loses things necessary for tasks or activities Will answer prematurely
before a question has been finished
573
Often does not seem to listen when spoken to directly WIll run and climb in situations where it is not appropriate
574
Management
575
NICE stipulates a holistic approach to treating ADHD that isn't entirely reliant on therapeutics. Following presentation
a ten-week 'watch and wait' period should follow to observe whether symptoms change or resolve. If they persist then referral to secondary care is required. This is normally to a paediatrician with a special interest in behavioural disorders
576
Drug therapy should be seen as a last resort and is only available to those aged 5 years or more. Patients with mild/moderate symptoms can usually benefit from their parents attending education and training programmes. For those who fail to respond
or whose symptoms are severe
577
Methylphenidate is first line in children and should initially be given on a six-week trial basis. It is a CNS stimulant which primarily acts as a dopamine/norepinephrine reuptake inhibitor. Side-effects include abdominal pain
nausea and dyspepsia. In children
578
If there is inadequate response
switch to lisdexamfetamine;
579
Dexamfetamine should be started in those who have benefited from lisdexamfetamine
but who can't tolerate its side effects.
580
In adults:
581
Methylphenidate or lisdexamfetamine are first-line options;
582
Switch between these drugs if no benefit is seen after a trial of the other.
583
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
584
Like most psychiatric conditions
whether adult or paediatric
585
What is the scientific name for **threadworms**?
Enterobius vermicularis ## Footnote Threadworms are sometimes called pinworms.
586
In which population is **threadworm infestation** extremely common?
Children in the UK ## Footnote Infestation occurs after swallowing eggs present in the environment.
587
What percentage of **threadworm infestations** are asymptomatic?
90% ## Footnote Possible features include perianal itching and vulval symptoms in girls.
588
What is a common symptom of **threadworm infestation**?
* Perianal itching, particularly at night * Vulval symptoms in girls ## Footnote These symptoms may indicate the presence of threadworms.
589
How is the diagnosis of **threadworm infestation** typically made?
Applying Sellotape to the perianal area and sending it for microscopy ## Footnote This method helps to see the eggs.
590
What is the first-line treatment for **children over 6 months** with threadworm infestation?
Mebendazole ## Footnote A single dose is given unless infestation persists.
591
What does the **CKS** recommend for managing threadworm infestation?
* A combination of anthelmintic * Hygiene measures for all household members ## Footnote This approach helps to prevent reinfestation.
592
What is **Impetigo**?
A bacterial infection affecting exposed skin areas, resulting in a vesicular eruption with a 'golden crust' ## Footnote Typically affects areas like the mouth's and nostril's border.
593
What is the characteristic appearance of **Impetigo**?
Vesicular eruption with an erythematous border evolving into a 'golden crust' ## Footnote Commonly seen in exposed skin areas.
594
What condition is characterized by **widespread blistering** involving oral and genital mucosa?
Pemphigus vulgaris ## Footnote An autoimmune condition.
595
True or false: The findings of a **symmetrical dry rash** involving the extensor aspects of the limbs are more indicative of **eczema** than **Pemphigus vulgaris**.
TRUE ## Footnote The findings do not align with Pemphigus vulgaris.
596
What is the typical presentation of **psoriasis**?
Plaque and silvery scale ## Footnote Rarely affects infants and may be a differential in treatment-refractory seborrhoeic dermatitis.
597
What condition is caused by **mite infection**?
Scabies ## Footnote Results in a generalized, intensely pruritic eruption in infants.
598
What are the common areas affected by **Scabies**?
* Volar aspect of the wrist * Periumbilical region * Interdigital webspace ## Footnote Scabies presents with evidence of linear burrowing and lesions associated with papules.
599
The patient's findings of a **symmetrical dry rash** involving the extensor aspects of the limbs are more consistent with _______.
eczema ## Footnote This finding is not typical for conditions like Impetigo or Scabies.
600
What is the progression of **Varicella (Chickenpox)** rash?
* Macules (flat spots) * Papules (raised bumps) * Vesicles (blisters) * Crust over ## Footnote The rash is itchy and associated with constitutional symptoms such as fever, headache, and general malaise.
601
What does **Herpes Simplex Virus (HSV)** cause?
* Painful vesicular lesions * Around the mouth (cold sores) * Genital area ## Footnote HSV can lead to significant discomfort and is highly contagious.
602
What is **Herpes Zoster (Shingles)** a reactivation of?
Chickenpox virus (varicella zoster) ## Footnote It leads to painful vesicles along a nerve dermatome.
603
What can cause **Contact Dermatitis**?
* Allergens * Irritants (like poison ivy) ## Footnote It can cause vesicles as a skin reaction.
604
What is the cause of **Hand, Foot, and Mouth Disease**?
Enteroviruses ## Footnote It leads to vesicular lesions on the hands, feet, and inside the mouth.
605
What type of infection is **Impetigo**?
Bacterial infection ## Footnote It can cause vesicular lesions and often leads to a honey-colored crust when the blisters break.
606
Where does the rash from **Chickenpox** typically start?
Centrally (face, scalp, or torso) ## Footnote The rash spreads to the extremities and starts as a macular rash.
607
What is a key characteristic of the rash in **Hand, Foot, and Mouth Disease**?
Typically appears on the oral mucosa, hands, and feet ## Footnote The rash is not typically itchy and may extend to the buttocks.
608
What is a significant differential diagnosis for a child with an unvaccinated status presenting with a rash?
Measles ## Footnote Measles produces a maculopapular rash that starts on the face and does not become vesicular.
609
What does **Roseola infantum** produce?
* Maculopapular rash * Starts centrally and spreads ## Footnote It is preceded by several days of high fever and is most common in children under 2 years of age.
610
What is a notable feature of the rash caused by **Rubella**?
* Mildly itchy maculopapular rash * Starts on the face (often behind the ears) ## Footnote The rash does not become vesicular and is typically associated with conjunctivitis and lymphadenopathy.
611
What should be done for children with **severe or life-threatening asthma**?
Transfer immediately to hospital ## Footnote This is critical to ensure the child's safety and proper medical intervention.
612
In children aged **2 to 5 years**, what indicates a **moderate attack** of asthma?
SpO2 > 92% and no clinical features of severe asthma ## Footnote Monitoring SpO2 levels is essential for assessing the severity of the attack.
613
In children aged **2 to 5 years**, what indicates a **severe attack** of asthma?
* SpO2 < 92% * Too breathless to talk or feed * Heart rate > 140/min * Respiratory rate > 40/min * Use of accessory neck muscles ## Footnote These signs require immediate attention and potential hospitalization.
614
In children aged **2 to 5 years**, what indicates a **life-threatening attack** of asthma?
* SpO2 < 92% * Silent chest * Poor respiratory effort * Agitation * Altered consciousness * Cyanosis ## Footnote These symptoms are critical and indicate a severe emergency.
615
For children greater than **5 years of age**, what should be attempted during an asthma attack?
Measure PEF in all children > 5 years ## Footnote Peak Expiratory Flow (PEF) measurements help assess the severity of the attack.
616
In children aged **greater than 5 years**, what indicates a **moderate attack** of asthma?
SpO2 > 92% and PEF > 50% best or predicted ## Footnote This indicates that the child's asthma is under better control.
617
In children aged **greater than 5 years**, what indicates a **severe attack** of asthma?
* SpO2 < 92% * PEF 33-50% best or predicted * Can't complete sentences in one breath or too breathless to talk or feed * Heart rate > 125/min * Respiratory rate > 30/min * Use of accessory neck muscles ## Footnote These signs require urgent medical evaluation.
618
In children aged **greater than 5 years**, what indicates a **life-threatening attack** of asthma?
* SpO2 < 92% * PEF < 33% best or predicted * Silent chest * Poor respiratory effort * Altered consciousness * Cyanosis ## Footnote Immediate medical intervention is necessary for these symptoms.
619
What is the **bronchodilator therapy** for children with mild to moderate acute asthma?
* Give a beta-2 agonist via a spacer * For a child < 3 years, use a close-fitting mask * Give 1 puff every 30-60 seconds up to a maximum of 10 puffs * If symptoms are not controlled, repeat beta-2 agonist and refer to hospital ## Footnote This therapy helps to relieve acute asthma symptoms.
620
What **steroid therapy** should be given to all children with an asthma exacerbation?
Treatment should be given for 3-5 days ## Footnote Steroids help reduce inflammation and improve breathing.
621
What is the usual **prednisolone dose** for children aged **2 - 5 years**?
* 20 mg od * 1-2 mg/kg od (max 40mg) ## Footnote Dosing may vary based on specific guidelines.
622
What is the usual **prednisolone dose** for children **greater than 5 years**?
* 30 - 40 mg od * 1-2 mg/kg od (max 40mg) ## Footnote Proper dosing is crucial for effective treatment.
623
What is the **immediate treatment** for acute asthma in children?
* 2-6 puffs of salbutamol * Nebulizer every 20 minutes for 1 hour ## Footnote This treatment is a **SABA** (Short-Acting Beta-Agonist) approach.
624
What should be administered if **SpO₂** is less than 94%?
Oxygen ## Footnote The target is to achieve **94-98% saturation**.
625
What type of medication is recommended for **moderate to severe attacks** of asthma?
Systemic steroids (oral prednisolone) ## Footnote These are crucial for managing inflammation during severe episodes.
626
In severe asthma attacks, what additional medication should be considered?
Ipratropium bromide ## Footnote This medication can be particularly beneficial in severe cases.
627
What is essential to do after initial treatment for asthma in children?
Monitor closely; escalate care if symptoms worsen or do not improve ## Footnote Continuous assessment is vital for effective management.
628
When should a follow-up occur after managing acute asthma in children?
Within 24-48 hours ## Footnote A clear **asthma action plan** should also be provided during follow-up.
629
What percentage of children typically experience **cow's milk protein intolerance/allergy (CMPI/CMPA)**?
3-6% ## Footnote CMPI/CMPA usually presents in the first 3 months of life in formula-fed infants.
630
What are the two types of reactions associated with **cow's milk protein allergy (CMPA)**?
* Immediate (IgE mediated) * Delayed (non-IgE mediated) ## Footnote CMPA is used for immediate reactions, while CMPI is used for mild-moderate delayed reactions.
631
List some **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 ## Footnote These symptoms can vary in severity and presentation.
632
What is the **first-line replacement formula** for infants with mild-moderate symptoms of cow's milk protein intolerance/allergy?
Extensive hydrolysed formula (eHF) ## Footnote This is recommended for formula-fed infants experiencing symptoms.
633
What should breastfeeding mothers do if their baby has **cow's milk protein intolerance/allergy**?
Eliminate cow's milk protein from maternal diet ## Footnote Consider prescribing calcium supplements to prevent deficiency while excluding dairy.
634
True or false: **Cow’s Milk Protein Intolerance (CMPI)** is an allergic reaction.
FALSE ## Footnote CMPI is an intolerance to the proteins in cow’s milk, not an immune-mediated allergic reaction.
635
What are the symptoms of **non-IgE-mediated intolerance** to cow's milk protein?
* Discomfort * Bloating * Diarrhea ## Footnote Symptoms typically occur after milk consumption and do not trigger an immune response.
636
What is **lactose intolerance** often mistaken for, and what causes it?
Cow's Milk Protein Intolerance (CMPI) ## Footnote Lactose intolerance is due to a lack of the enzyme lactase, leading to symptoms like bloating and gas.
637
What are the common symptoms of **IgE-mediated CMPA**?
* Hives * Swelling (angioedema) * Wheezing * Anaphylaxis (in severe cases) * Vomiting * Diarrhea ## Footnote Symptoms can occur immediately after milk ingestion.
638
What are the common symptoms of **non-IgE-mediated CMPA**?
* Eczema * Abdominal pain * Diarrhea or blood in stools * Failure to thrive or poor weight gain ## Footnote Symptoms may be delayed and can be more difficult to diagnose.
639
What is the **prognosis** for children with cow's milk protein intolerance/allergy?
* CMPI usually resolves in most children * 55% of children with IgE mediated intolerance will be milk tolerant by age 5 * Most children with non-IgE mediated intolerance will be milk tolerant by age 3 ## Footnote A challenge is often performed in a hospital setting due to the risk of anaphylaxis.
640
What are the **key features** of **Patau syndrome (trisomy 13)**?
* Microcephalic * Small eyes * Cleft lip/palate * Polydactyly * Scalp lesions ## Footnote Patau syndrome is characterized by severe developmental issues.
641
What are the **key features** of **Edward's syndrome (trisomy 18)**?
* Micrognathia * Low-set ears * Rocker bottom feet * Overlapping of fingers ## Footnote Edward's syndrome is associated with high mortality rates in infancy.
642
What are the **key features** of **Fragile X syndrome**?
* Learning difficulties * Macrocephaly * Long face * Large ears * Macro-orchidism ## Footnote Fragile X syndrome is the most common inherited cause of intellectual disability.
643
What are the **key features** of **Noonan syndrome**?
* Webbed neck * Pectus excavatum * Short stature * Pulmonary stenosis ## Footnote Noonan syndrome can affect both males and females and is often associated with congenital heart defects.
644
What are the **key features** of **Pierre-Robin syndrome**?
* Micrognathia * Posterior displacement of the tongue * Cleft palate ## Footnote This syndrome may lead to upper airway obstruction due to tongue positioning.
645
What are the **key features** of **Prader-Willi syndrome**?
* Hypotonia * Hypogonadism * Obesity ## Footnote Prader-Willi syndrome is characterized by insatiable appetite leading to obesity.
646
What are the **key features** of **William's syndrome**?
* Short stature * Learning difficulties * Friendly, extrovert personality * Transient neonatal hypercalcaemia * Supravalvular aortic stenosis ## Footnote William's syndrome is often associated with cardiovascular issues.
647
What are the **key features** of **Cri du chat syndrome**?
* Characteristic cry * Feeding difficulties and poor weight gain * Learning difficulties * Microcephaly * Micrognathism * Hypertelorism ## Footnote The name 'Cri du chat' translates to 'cry of the cat' due to the distinctive cry of affected infants.
648
True or false: **Pierre-Robin syndrome** has many similarities with **Treacher-Collins syndrome**.
TRUE ## Footnote One key difference is that Treacher-Collins syndrome is autosomal dominant, often with a family history.
649
What is **osteosarcoma** characterized by?
* Unexplained lump * Unexplained bone pain * Unexplained swelling ## Footnote Osteosarcoma is rare but important to rule out in diagnoses.
650
What are the typical symptoms of **juvenile rheumatoid arthritis**?
* Fever * Rash * Symmetrical joint pain * Swelling ## Footnote These symptoms often present together in juvenile rheumatoid arthritis cases.
651
Define **osteochondritis dissecans**.
A joint disorder where cracks form in the articular cartilage and underlying subchondral bone, causing joint pain, locking, and swelling. ## Footnote This condition can significantly affect joint function.
652
What is a **bipartite patella**?
A condition where the kneecap is formed of 2 separate bones, usually asymptomatic. ## Footnote It is often discovered incidentally during imaging for other issues.
653
What is the **Otoacoustic emission test** used for in newborns?
Testing all newborns as part of the Newborn Hearing Screening Programme ## Footnote A computer-generated click is played through a small earpiece; the presence of a soft echo indicates a healthy cochlea.
654
When is the **Auditory Brainstem Response test** performed?
If the otoacoustic emission test is abnormal ## Footnote This test may be done for newborns and infants.
655
What age group undergoes the **Distraction test**?
6-9 months ## Footnote Performed by a health visitor and requires two trained staff.
656
What does the **Recognition of familiar objects** test involve for children aged 18 months to 2.5 years?
Uses familiar objects like teddy or cup ## Footnote Simple questions are asked, e.g., 'where is the teddy?'.
657
What type of tests are performed for children older than **2.5 years**?
* Performance testing * Speech discrimination tests ## Footnote Speech discrimination tests use similar-sounding objects, e.g., Kendall Toy test, McCormick Toy Test.
658
At what age is **Pure tone audiometry** typically done?
> 3 years ## Footnote This is done at school entry in most areas of the UK.
659
What is included in the **Personal Child Health Records** for hearing assessment?
A questionnaire for parents asking 'Can your baby hear you?' ## Footnote This helps gather information about the child's hearing ability.
660
Women who are between **16-32 weeks pregnant** are offered which vaccine?
pertussis vaccine ## Footnote This vaccine is typically part of the diphtheria, pertussis, and tetanus vaccination.
661
At what point in her pregnancy can a patient be offered the **influenza vaccine**?
at any point of her pregnancy ## Footnote The influenza vaccine is recommended regardless of the stage of pregnancy.
662
What is the purpose of offering the **pertussis vaccine** to pregnant women?
* Provide maternal antibodies to the fetus * Prevent the spreading of pertussis ## Footnote Pertussis can cause severe illness and death in a newborn.
663
What is **Laryngomalacia** characterized by?
Floppy larynx that collapses during inspiration ## Footnote It presents as inspiratory stridor in infants typically aged between 4-6 weeks.
664
At what age does **Laryngomalacia** typically present?
4-6 weeks ## Footnote Symptoms usually resolve without intervention by 18-24 months.
665
What type of stridor is associated with **Laryngomalacia**?
Inspiratory stridor ## Footnote It leads to a high-pitched noise that worsens in supine positions and during feeding.
666
What percentage of cases of congenital stridor does **Laryngomalacia** account for?
60-70% ## Footnote It affects both sexes equally.
667
What are the **types** of Laryngomalacia?
* Type 1: tightening of the aryepiglottic folds * Type 2: redundant tissue in the supraglottic region * Type 3: associated with other disorders ## Footnote Type 3 may include neuromuscular weakness or gastro-oesophageal reflux disease.
668
What are common **features** of Laryngomalacia?
* Inspiratory stridor: high-pitched and crowing * Symptoms increase in severity during the first 8 months * Rare respiratory distress, failure to thrive, and cyanosis ## Footnote Stridor is usually intermittent, occurring in specific positions or situations.
669
What **investigations** should be conducted for Laryngomalacia?
* Monitor oxygen saturation * Blood gases if desaturation occurs * Laryngoscopy and bronchoscopy if severe features or diagnostic difficulty ## Footnote These investigations are only indicated in specific circumstances.
670
What is the typical **management** for Laryngomalacia?
* 99% resolve spontaneously by 18-24 months * Symptomatic relief by hyperextending the neck * Surgical intervention for severe respiratory distress ## Footnote Surgical options may include tracheostomy, laryngoplasty, excision of redundant mucosa, laser epiglottopexy, or laser division of the aryepiglottic folds.
671
True or false: **Vocal cord paralysis** typically involves both inspiratory and expiratory sounds.
TRUE ## Footnote It may also be associated with weak cry or hoarseness, which are not described in the case of Laryngomalacia.
672
Fill in the blank: **Subglottic stenosis** would generally present with __________ stridor.
biphasic stridor ## Footnote This includes both inspiratory and expiratory stridor along with more severe signs of respiratory distress.
673
What condition is characterized by a **congenital blockage of nasal passages**?
Choanal atresia ## Footnote It results in difficulty breathing through the nose rather than isolated inspiratory stridor.
674
What condition is characterized by **inspiratory stridor** in infants typically aged between 4-6 weeks?
Laryngomalacia ## Footnote This condition is characterized by a floppy larynx that collapses during inspiration, leading to a high-pitched noise.
675
Laryngomalacia often worsens in which positions?
* Supine positions * During feeding ## Footnote It usually resolves without intervention by 18-24 months.
676
True or false: **Tracheomalacia** involves weakness of the tracheal walls leading to **inspiratory stridor**.
FALSE ## Footnote Tracheomalacia leads to expiratory stridor rather than inspiratory stridor.
677
Which condition typically involves both **inspiratory and expiratory sounds** and may be associated with weak cry or hoarseness?
Vocal cord paralysis ## Footnote These symptoms are not described in the scenario presented.
678
What type of stridor would **subglottic stenosis** generally present with?
Biphasic stridor ## Footnote This condition is associated with more severe signs of respiratory distress, which are absent in this case.
679
True or false: **Choanal atresia** results in isolated **inspiratory stridor**.
FALSE ## Footnote It results in difficulty breathing through the nose rather than isolated inspiratory stridor, especially since symptoms improve when crying.
680
What is **Hirschsprung's disease** caused by?
An aganglionic segment of bowel due to a developmental failure of the parasympathetic Auerbach and Meissner plexuses ## Footnote Occurs in 1 in 5,000 births and is an important differential diagnosis in childhood constipation.
681
What is the **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 ## Footnote This sequence leads to the symptoms associated with the disease.
682
Hirschsprung's disease is **3 times more common** in which gender?
Males ## Footnote It is also associated with Down's syndrome.
683
Possible presentations of Hirschsprung's disease in the **neonatal period** include _______.
Failure or delay to pass meconium ## Footnote Older children may present with constipation and abdominal distension.
684
What are the **investigations** used for diagnosing Hirschsprung's disease?
* Abdominal x-ray * Rectal biopsy: gold standard for diagnosis ## Footnote These investigations help confirm the diagnosis.
685
What is the **initial management** for Hirschsprung's disease?
Rectal washouts/bowel irrigation ## Footnote Definitive management involves surgery to the affected segment of the colon.
686
What is **Wilms' nephroblastoma**?
One of the most common childhood malignancies ## Footnote Typically presents in children under 5 years of age, with a median age of 3 years.
687
Name one **syndrome** associated with Wilms' tumour.
* Beckwith-Wiedemann syndrome * WAGR syndrome * hemihypertrophy ## Footnote WAGR syndrome includes Aniridia, Genitourinary malformations, and mental Retardation.
688
What is the most common **presenting feature** of Wilms' tumour?
Abdominal mass ## Footnote Other features may include painless haematuria and flank pain.
689
What percentage of Wilms' tumour cases are **unilateral**?
95% ## Footnote Metastases are found in 20% of patients, most commonly in the lung.
690
What is the **management** for Wilms' tumour?
* Nephrectomy * Chemotherapy * Radiotherapy if advanced disease ## Footnote Prognosis is good, with an 80% cure rate.
691
True or false: **Metastases** in Wilms' tumour are commonly found in the liver.
FALSE ## Footnote Metastases are most commonly found in the lung.
692
What should be arranged within **48 hours** for children with an unexplained enlarged abdominal mass?
Paediatric review ## Footnote This is crucial as it may indicate possible Wilms' tumour.
693
What is a common **symptom** of Wilms' tumour besides abdominal mass?
* Painless haematuria * Flank pain * Anorexia * Fever ## Footnote These symptoms may vary among patients.
694
What genetic mutation is associated with about one-third of Wilms' tumour cases?
Loss-of-function mutation in the **WT1 gene** on chromosome 11 ## Footnote This mutation is significant in the development of the tumour.
695
What is **pyloric stenosis** characterized by?
* Projectile non bile stained vomiting at 4-6 weeks of life * Diagnosis made by test feed or USS * Treatment: Ramstedt pyloromyotomy (open or laparoscopic) ## Footnote Occurs more frequently in males and has a 5-10% family history in parents.
696
True or false: **Acute appendicitis** is common in children under 3 years.
FALSE ## Footnote When it occurs in this age group, it may present atypically.
697
What are the symptoms of **intussusception**?
* Colicky pain * Diarrhoea and vomiting * Sausage-shaped mass * Red jelly stool ## Footnote Typically occurs in infants aged 6-9 months and involves telescoping bowel.
698
What is a key feature of **intestinal malrotation**?
* High caecum at the midline * Complicated by volvulus * Diagnosis made by upper GI contrast study and USS * Treatment: laparotomy or Ladd's procedure ## Footnote May be associated with conditions like exomphalos and congenital diaphragmatic hernia.
699
What is **Hirschsprung's disease** characterized by?
* Absence of ganglion cells from myenteric and submucosal plexuses * Occurs in 1/5000 births * Diagnosis via full-thickness rectal biopsy * Treatment: rectal washouts and anorectal pull-through procedure ## Footnote Symptoms include delayed passage of meconium and abdominal distension.
700
What are the associated conditions with **oesophageal atresia**?
* Tracheo-oesophageal fistula * Polyhydramnios * VACTERL associations ## Footnote May present with choking and cyanotic spells following aspiration.
701
What is the typical presentation of **meconium ileus**?
* Delayed passage of meconium * Abdominal distension * Majority have cystic fibrosis ## Footnote X-Rays may not show a fluid level; PR contrast studies may dislodge meconium plugs.
702
What is a key symptom of **biliary atresia**?
* Jaundice > 14 days * Increased conjugated bilirubin ## Footnote Requires an urgent Kasai procedure for treatment.
703
What is the main risk factor for **necrotising enterocolitis**?
Prematurity ## Footnote Early features include abdominal distension and passage of bloody stools; treatment involves total gut rest and TPN.
704
What is **Prader-Willi Syndrome**?
A genetic disorder caused by loss of function of genes on the paternal chromosome 15 (15q11-q13) ## Footnote Usually due to paternal deletion, maternal uniparental disomy, or imprinting defects.
705
What is the **incidence** of Prader-Willi Syndrome?
~1 in 10,000–30,000 live births ## Footnote Both sexes are equally affected.
706
What is the central dysfunction in the **pathophysiology** of Prader-Willi Syndrome?
Hypothalamic dysfunction ## Footnote Affects satiety, leading to hyperphagia.
707
What are the **genetic mechanisms** associated with Prader-Willi Syndrome?
* Paternal deletion (70%) * Maternal uniparental disomy (25%) * Imprinting defect (5%) ## Footnote Paternal deletion results in missing paternal genes, while maternal uniparental disomy has two maternal copies with no paternal genes.
708
What are the **neonatal clinical features** of Prader-Willi Syndrome?
* Hypotonia (“floppy baby”) * Weak cry * Poor sucking * Feeding difficulties * Poor weight gain ## Footnote These features are evident in the neonatal period.
709
At what age does **hyperphagia** typically begin in Prader-Willi Syndrome?
~2–4 years old ## Footnote This can lead to excessive weight gain and obesity risk.
710
What are some **characteristic facial features** of Prader-Willi Syndrome?
* Almond-shaped eyes * Narrow forehead * Thin upper lip * Downturned mouth ## Footnote These features are often observed in affected individuals.
711
What are the **endocrine/metabolic** features of Prader-Willi Syndrome?
* Growth hormone deficiency * Hypogonadism * Hypothyroidism (sometimes) * Insulin resistance / obesity complications ## Footnote These features contribute to short stature and reduced muscle mass.
712
What are some **behavioral/neuropsychiatric** features of Prader-Willi Syndrome?
* Temper tantrums * Stubbornness * Obsessive-compulsive behaviors * Sleep disturbances * Daytime sleepiness ## Footnote These behaviors can significantly impact daily life.
713
What type of **investigations** are used for Prader-Willi Syndrome?
* Genetic testing: FISH or methylation analysis for 15q11-q13 region * Hormone studies: GH, sex hormones, thyroid function * Sleep studies: if suspicion of sleep apnea ## Footnote These tests help confirm the diagnosis and assess related issues.
714
What does **multidisciplinary care** for Prader-Willi Syndrome include?
* Nutritional: strict diet control * Endocrine: growth hormone therapy * Behavioral/Psychosocial: structured environment * Complications: monitor for obesity, sleep apnea, osteoporosis ## Footnote This approach is essential for effective management.
715
What is the **prognosis** for individuals with Prader-Willi Syndrome?
Lifespan can be near normal with careful management ## Footnote Mainly limited by obesity-related complications; early interventions improve growth, muscle tone, cognition, and behavior.
716
Fill in the blank: **Floppy baby** → feeding problems → _______ → obesity.
hyperphagia ## Footnote This sequence highlights the progression of symptoms in Prader-Willi Syndrome.
717
What is the **key genetic cause** of Prader-Willi Syndrome?
Paternal deletion or uniparental disomy 15q11-q13 ## Footnote Understanding the genetic basis is crucial for diagnosis and management.
718
What is a key point in the **management** of Prader-Willi Syndrome?
Multidisciplinary: diet, GH therapy, behavioral support ## Footnote Effective management requires collaboration among various healthcare professionals.
719
What are the **most common fractures** associated with child abuse?
* Radial * Humeral * Femoral ## Footnote These fractures are often indicators of potential child abuse.
720
List common **fractures in paediatrics** not associated with non-accidental injury (NAI).
* Distal radial * Elbow * Clavicular * Tibial ## Footnote These fractures typically occur in children without the implication of abuse.
721
Children may disclose **abuse themselves**. Name other factors that point towards child abuse.
* Story inconsistent with injuries * Repeated attendances at A&E departments * Delayed presentation * Child with a frightened, withdrawn appearance - 'frozen watchfulness' ## Footnote These factors can help identify potential cases of child abuse.
722
Possible **physical presentations** of child abuse include:
* Bruising * Fractures: particularly metaphyseal, posterior rib fractures or multiple fractures at different stages of healing * Torn frenulum * Burns or scalds * Failure to thrive * Sexually transmitted infections e.g. Chlamydia, Gonorrhoea, Trichomonas ## Footnote These presentations can indicate abuse and warrant further investigation.
723
What is the **most likely cause** of paediatric arrest?
hypoxia ## Footnote The most common cause of paediatric arrest is a respiratory arrest.
724
What is the **number one cause** of painless massive GI bleeding requiring a transfusion in children between the ages of 1 and 2 years?
Meckels diverticulum ## Footnote This condition is significant in pediatric emergency medicine due to its potential severity.
725
What is **acute epiglottitis**?
A rare but serious infection caused by Haemophilus influenzae type B ## Footnote Prompt recognition and treatment are essential as airway obstruction may develop.
726
In which population was **epiglottitis** traditionally considered a disease?
Childhood ## Footnote In the UK, it is now more common in adults due to the immunisation programme.
727
What has caused the **incidence of epiglottitis** to decrease?
The introduction of the Hib vaccine ## Footnote This vaccine has significantly reduced cases of epiglottitis.
728
List the **features** of acute epiglottitis.
* Rapid onset * High temperature, generally unwell * Stridor * Drooling of saliva * 'Tripod' position ## Footnote The 'tripod' position is when the patient leans forward and extends their neck to breathe easier.
729
How is **diagnosis** of acute epiglottitis made?
By direct visualisation, only by senior/airway trained staff ## Footnote X-rays may be done to check for foreign bodies.
730
What does a **lateral view** in acute epiglottitis show?
Swelling of the epiglottis - the 'thumb sign' ## Footnote This is in contrast to the 'steeple sign' seen in croup.
731
What is the **management** for acute epiglottitis?
* Immediate senior involvement * Endotracheal intubation if necessary * Do NOT examine the throat * Oxygen * Intravenous antibiotics ## Footnote Senior staff should perform direct visualisation and intubation if needed.
732
True or false: You should examine the throat of a patient suspected of having **acute epiglottitis**.
FALSE ## Footnote Examining the throat may lead to acute airway obstruction.
733
In children, urinary tract infections (UTI) are more common in **boys** until what age?
3 months ## Footnote After 3 months, the incidence of UTI is substantially higher in girls.
734
What percentage of **girls** will have a UTI in childhood?
At least 8% ## Footnote For boys, the percentage is at least 2%.
735
What are the **presentation features** of UTI in infants?
* Poor feeding * Vomiting * Irritability ## Footnote Presentation varies by age group.
736
What are the **presentation features** of UTI in younger children?
* Abdominal pain * Fever * Dysuria ## Footnote Presentation varies by age group.
737
What are the **presentation features** of UTI in older children?
* Dysuria * Frequency * Haematuria ## Footnote Presentation varies by age group.
738
What features may suggest an **upper UTI**?
* Temperature > 38ºC * Loin pain/tenderness ## Footnote These features indicate a more severe infection.
739
According to NICE guidelines, when should a urine sample be checked in a child?
* If there are symptoms or signs suggestive of a UTI * With unexplained fever of 38°C or higher * With an alternative site of infection but who remain unwell ## Footnote Urine should be tested after 24 hours at the latest.
740
What is the **preferred method** for urine collection in children?
Clean catch ## Footnote If not possible, urine collection pads should be used.
741
What collection methods are **not suitable** for urine collection?
* Cotton wool balls * Gauze * Sanitary towels ## Footnote Invasive methods like suprapubic aspiration should only be used if non-invasive methods are not possible.
742
What should be done for **infants less than 3 months old** with UTI?
Refer immediately to a paediatrician ## Footnote This is crucial for proper management.
743
Children aged more than 3 months old with an **upper UTI** should be considered for what?
Admission to hospital ## Footnote If not admitted, oral antibiotics should be given for 7-10 days.
744
What oral antibiotics are typically given for **children aged more than 3 months old** with a lower UTI?
* Trimethoprim * Nitrofurantoin * Cephalosporin * Amoxicillin ## Footnote Treatment duration is usually for 3 days according to local guidelines.
745
What should parents be advised if their child remains unwell after **24-48 hours** of treatment?
Bring the children back ## Footnote This ensures proper follow-up and management.
746
Is **antibiotic prophylaxis** given after the first UTI?
No ## Footnote It should be considered with recurrent UTIs.
747
What is the target temperature range for **therapeutic cooling** in neonates with hypoxic injury?
33.5 - 34.5ºC ## Footnote This cooling should occur within a six-hour window of the hypoxia-inducing event.
748
What is the primary purpose of **therapeutic cooling**?
Reduce the risk of ischaemic injury to tissues ## Footnote It is particularly used after cardiac arrest, traumatic brain injury, or neonatal hypoxic-ischaemic encephalopathy.
749
List the **mechanisms of action** of therapeutic cooling.
* Reduction of Metabolic Rate * Inhibition of Apoptosis * Reduction of Inflammatory Response * Decreased Free Radical Production ## Footnote These mechanisms help in preserving cellular integrity and reducing tissue damage.
750
What are the **indications** for therapeutic cooling?
* Cardiac Arrest * Neonatal Hypoxic-Ischaemic Encephalopathy * Traumatic Brain Injury ## Footnote These conditions can benefit from therapeutic cooling to improve outcomes.
751
What are the **methods of induction** for therapeutic cooling?
* Surface Cooling * Endovascular Cooling * Cold Fluid Infusion ## Footnote These methods vary in invasiveness and application.
752
What is the typical **duration** for maintaining therapeutic cooling?
24-72 hours ## Footnote This is followed by a gradual rewarming period.
753
What should be continuously monitored during **therapeutic cooling**?
* Core temperature * Blood pressure * Heart rate * Cardiac output ## Footnote Close monitoring is essential due to potential complications from hypothermia.
754
True or false: **Therapeutic cooling** can lead to increased susceptibility to infections.
TRUE ## Footnote The immune response is suppressed at lower temperatures, increasing infection risk.
755
What are some **complications** associated with therapeutic cooling?
* Bradycardia * Arrhythmias * Hypotension * Coagulopathy * Infection * Electrolyte Imbalance * Shivering ## Footnote These complications require careful management during the cooling process.
756
How should the **rewarming phase** of therapeutic cooling be conducted?
Slowly, at a rate of 0.25-0.5°C per hour ## Footnote This approach minimizes risks such as electrolyte imbalances and rebound hyperthermia.
757
What is the **common cause** of hypoglycaemia in normal term babies during the first 24 hours of life?
Utilisation of alternate fuels like ketones and lactate ## Footnote This allows them to manage low blood sugar without significant sequelae.
758
What is the **agreed definition** of neonatal hypoglycaemia used in many guidelines?
< 2.6 mmol/L ## Footnote There is no universally accepted definition, but this figure is commonly referenced.
759
Transient hypoglycaemia in the first hours after birth is considered **common**. True or False?
TRUE ## Footnote Many newborns experience transient hypoglycaemia shortly after birth.
760
List **causes** of persistent/severe hypoglycaemia in neonates.
* Preterm birth (< 37 weeks) * Maternal diabetes mellitus * IUGR * Hypothermia * Neonatal sepsis * Inborn errors of metabolism * Nesidioblastosis * Beckwith-Wiedemann syndrome ## Footnote These conditions can lead to more serious hypoglycaemia in newborns.
761
What are some **features** of neonatal hypoglycaemia?
* May be asymptomatic * Autonomic changes * Jitteriness * Irritable * Tachypnoea * Pallor * Neuroglycopenic symptoms * Poor feeding/sucking * Weak cry * Drowsy * Hypotonia * Seizures * Apnoea * Hypothermia ## Footnote Symptoms can vary widely, and some may not present any symptoms.
762
What is the **management** for asymptomatic neonatal hypoglycaemia?
* Encourage normal feeding (breast or bottle) * Monitor blood glucose ## Footnote This approach is suitable for cases where the newborn is not showing symptoms.
763
What should be done for **symptomatic** or very low blood glucose in neonates?
* Admit to the neonatal unit * Intravenous infusion of 10% dextrose ## Footnote This is critical for managing more severe cases of hypoglycaemia.
764
What is the **preferred term** for juvenile chronic arthritis?
Juvenile idiopathic arthritis (JIA) ## Footnote JIA describes arthritis occurring in individuals under 16 years old lasting more than 6 weeks.
765
What is another name for **systemic onset JIA**?
Still's disease ## Footnote Systemic onset JIA is a specific type of juvenile idiopathic arthritis.
766
List the **features** of systemic onset JIA.
* Pyrexia * Salmon-pink rash * Lymphadenopathy * Arthritis * Uveitis * Anorexia and weight loss ## Footnote These features are characteristic of systemic onset juvenile idiopathic arthritis.
767
True or false: **Rheumatoid factor** is usually positive in systemic onset JIA.
FALSE ## Footnote Rheumatoid factor is typically negative in systemic onset juvenile idiopathic arthritis.
768
What may be positive in **oligoarticular JIA**?
ANA ## Footnote Antinuclear antibodies (ANA) may be positive, especially in cases of oligoarticular juvenile idiopathic arthritis.
769
What is the **common term** for hypoglycaemia in newborns?
Neonatal hypoglycaemia ## Footnote Normal term babies often experience hypoglycaemia in the first 24 hours of life without any sequelae.
770
What figure is commonly used in guidelines to define **neonatal hypoglycaemia**?
< 2.6 mmol/L ## Footnote There is no universally agreed definition of neonatal hypoglycaemia.
771
What are some **causes** of persistent/severe hypoglycaemia in newborns?
* Preterm birth (< 37 weeks) * Maternal diabetes mellitus * IUGR * Hypothermia * Neonatal sepsis * Inborn errors of metabolism * Nesidioblastosis * Beckwith-Wiedemann syndrome ## Footnote These conditions can lead to more serious cases of hypoglycaemia in newborns.
772
List some **features** of neonatal hypoglycaemia.
* May be asymptomatic * Autonomic changes * Jitteriness * Irritable * Tachypnoea * Pallor * Neuroglycopenic symptoms * Poor feeding/sucking * Weak cry * Drowsy * Hypotonia * Seizures * Apnoea * Hypothermia ## Footnote Symptoms can vary widely among affected newborns.
773
True or false: **Transient hypoglycaemia** in the first hours after birth is common.
TRUE ## Footnote It is often seen in normal term babies.
774
What is the management for **asymptomatic** neonatal hypoglycaemia?
* Encourage normal feeding (breast or bottle) * Monitor blood glucose ## Footnote This approach is taken when the newborn is not showing symptoms.
775
What should be done for **symptomatic** or very low blood glucose in newborns?
* Admit to the neonatal unit * Intravenous infusion of 10% dextrose ## Footnote This management is necessary to address more severe cases of hypoglycaemia.
776
What is the most common cause of **napkin rash**?
Irritant dermatitis ## Footnote Caused by the irritant effect of urinary ammonia and faeces; creases are characteristically spared.
777
What type of **napkin rash** is characterized by an erythematous rash involving flexures and has characteristic satellite lesions?
Candida dermatitis ## Footnote Typically presents with an erythematous rash and satellite lesions.
778
What is **seborrhoeic dermatitis** in the context of napkin rash?
Erythematous rash with flakes ## Footnote May be coexistent with a scalp rash.
779
Which less common cause of napkin rash is characterized by an erythematous scaly rash also present elsewhere on the skin?
Psoriasis ## Footnote Less common compared to other types of dermatitis.
780
What is a key characteristic of **atopic eczema** related to napkin rash?
Other areas of the skin will also be affected ## Footnote This condition can present alongside napkin rash.
781
What type of nappies are preferable for managing **napkin rash**?
Disposable nappies ## Footnote Preferable to towel nappies for hygiene and comfort.
782
What is a recommended management strategy for **napkin rash**?
* Expose napkin area to air when possible * Apply barrier cream (e.g. Zinc and castor oil) * Use mild steroid cream (e.g. 1% hydrocortisone) in severe cases ## Footnote These strategies help in managing and preventing further irritation.
783
What should be done for suspected **candidal nappy rash**?
Use a topical imidazole ## Footnote Cease the use of a barrier cream until the candida has settled.
784
What does **DSM-V** define ADHD as?
A condition incorporating features relating to inattention and/or hyperactivity/impulsivity that are persistent ## Footnote Developmental delay must be present for diagnosis.
785
What is the **UK prevalence** of ADHD?
2.4% ## Footnote This prevalence is about twice that of autism and is more common in boys than in girls (M:F 4:1).
786
At what ages are most children diagnosed with **ADHD**?
Between the ages of 3 and 7 ## Footnote Diagnosis typically occurs during early childhood.
787
List the **diagnostic features** 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 ## Footnote These features must be persistent for diagnosis.
788
List the **diagnostic features** of hyperactivity/impulsivity in ADHD.
* Unable to play quietly * Talks excessively * Does not wait their turn easily * Will spontaneously leave their seat when expected to sit * Is often 'on the go' * Often interruptive or intrusive to others * Will answer prematurely, before a question has been finished * Will run and climb in situations where it is not appropriate ## Footnote These features also need to be persistent for diagnosis.
789
What is the **initial management** approach for ADHD according to NICE?
A holistic approach that includes a ten-week 'watch and wait' period ## Footnote This period is to observe whether symptoms change or resolve before considering further action.
790
When should a referral to **secondary care** be made for ADHD?
If symptoms persist after the 'watch and wait' period ## Footnote Referrals are typically to a paediatrician with a special interest in behavioural disorders or to CAMHS.
791
What is the first-line drug therapy for children with ADHD?
Methylphenidate ## Footnote It should be given on a six-week trial basis and is a CNS stimulant.
792
What are the **side effects** of Methylphenidate?
* Abdominal pain * Nausea * Dyspepsia ## Footnote Weight and height should be monitored every 6 months in children.
793
What should be performed before starting treatment with ADHD medications?
A baseline ECG ## Footnote This is important due to the potential cardiotoxicity of these drugs.
794
True or false: Drug therapy for ADHD should be the first option for treatment.
FALSE ## Footnote Drug therapy should be seen as a last resort and is only available to those aged 5 years or more.
795
What is the **genetic component** associated with ADHD?
There is a possible genetic component ## Footnote This suggests that ADHD may run in families.
796
What should be considered if there is inadequate response to Methylphenidate?
Switch to lisdexamfetamine ## Footnote If lisdexamfetamine is not tolerated, dexamfetamine may be considered.
797
What is the **age threshold** for ADHD diagnosis features?
Six features for children up to 16 years; five features for those aged 17 or over ## Footnote This distinction is important for accurate diagnosis.
798
What karyotype is associated with **Klinefelter's syndrome**?
47, XXY ## Footnote Klinefelter's syndrome is characterized by the presence of an extra X chromosome.
799
List the **features** of **Klinefelter's syndrome**.
* Often taller than average * Lack of secondary sexual characteristics * Small, firm testes * Infertile * Gynaecomastia * Elevated gonadotrophin levels ## Footnote Gynaecomastia is associated with an increased incidence of breast cancer.
800
How is **Klinefelter's syndrome** diagnosed?
Chromosomal analysis ## Footnote Diagnosis involves analyzing the chromosomes to confirm the karyotype.
801
What is **Kallman's syndrome** a recognized cause of?
Delayed puberty secondary to hypogonadotrophic hypogonadism ## Footnote It is usually inherited as an X-linked recessive trait.
802
What is a key feature of **Kallman's syndrome** often noted in questions?
Lack of smell (anosmia) ## Footnote This is observed in boys with delayed puberty.
803
List the **features** of **Kallman's syndrome**.
* Delayed puberty * Hypogonadism * Cryptorchidism * Anosmia * Low sex hormone levels * Inappropriately low/normal LH and FSH levels * Typically normal or above average height ## Footnote Cleft lip/palate and visual/hearing defects may also be present.
804
What condition is **Androgen insensitivity syndrome** associated with?
End-organ resistance to testosterone ## Footnote This leads to genotypically male children (46XY) having a female phenotype.
805
What is the new term for **testicular feminisation syndrome**?
Complete androgen insensitivity syndrome ## Footnote This term reflects the complete resistance to androgens.
806
List the **features** of **Androgen insensitivity syndrome**.
* Primary amenorrhoea * Undescended testes causing groin swellings * Breast development due to conversion of testosterone to oestradiol ## Footnote These features are indicative of the condition's effects on sexual development.
807
How is **Androgen insensitivity syndrome** diagnosed?
Buccal smear or chromosomal analysis ## Footnote Diagnosis reveals the 46XY genotype.
808
What is the management for **Androgen insensitivity syndrome**?
* Counselling to raise the child as female * Bilateral orchidectomy * Oestrogen therapy ## Footnote Bilateral orchidectomy is recommended due to increased risk of testicular cancer from undescended testes.
809
What vaccine does the **UK childhood flu immunisation programme** offer to children aged 2-15 years?
intranasal live attenuated influenza vaccine (LAIV) ## Footnote This vaccine is provided annually to eligible children.
810
Is a **4-year-old child** eligible for the LAIV?
Yes ## Footnote The child is within the age range of 2-15 years.
811
Is **well-controlled asthma** a contraindication to receiving LAIV?
No ## Footnote Children with asthma are actually a priority group for flu vaccination.
812
Should vaccination be deferred if the child has recovered from a **recent mild upper respiratory tract infection**?
No ## Footnote The child is currently well, so there is no need to defer vaccination.
813
Why is **LAIV** preferred over injectable vaccines in children?
* Provides better mucosal immunity * More acceptable to children and parents ## Footnote These factors contribute to the preference for LAIV in pediatric vaccination.
814
What is **surfactant deficient lung disease (SDLD)** also known as?
Respiratory distress syndrome ## Footnote Previously referred to as hyaline membrane disease.
815
What causes **surfactant deficient lung disease (SDLD)**?
Insufficient surfactant production and structural immaturity of the lungs ## Footnote Commonly seen in premature infants.
816
How does the risk of **SDLD** change with gestation?
* Decreases with gestation * 50% of infants born at 26-28 weeks * 25% of infants born at 30-31 weeks ## Footnote The risk is significantly higher in earlier gestational ages.
817
What are some **other risk factors** for SDLD?
* Male sex * Diabetic mothers * Caesarean section * Second born of premature twins ## Footnote These factors increase the likelihood of developing SDLD.
818
What are the **clinical features** of SDLD?
* Tachypnoea * Intercostal recession * Expiratory grunting * Cyanosis ## Footnote These features are common to respiratory distress in newborns.
819
What does a **chest x-ray** typically show in cases of SDLD?
'Ground-glass' appearance with an indistinct heart border ## Footnote This characteristic finding helps in diagnosing SDLD.
820
What is a key **management** strategy for preventing SDLD during pregnancy?
Maternal corticosteroids to induce fetal lung maturation ## Footnote This treatment helps improve lung development in premature infants.
821
What are some **treatment options** for SDLD?
* Oxygen * Assisted ventilation * Exogenous surfactant given via endotracheal tube ## Footnote These interventions are critical for managing infants with SDLD.
822
Who should urgently assess **acute limps** in patients under 3 years?
Secondary care paediatric teams ## Footnote This assessment is crucial to rule out **septic arthritis** or **traumatic injury**.
823
True or false: Normal observations in patients with **septic arthritis** are always reassuring.
FALSE ## Footnote Septic arthritis can present in patients who are otherwise well, making normal observations not necessarily reassuring.
824
Urinary tract infections (UTI) are more common in **boys** until what age?
3 months ## Footnote After 3 months, the incidence is substantially higher in girls.
825
What percentage of **girls** will have a UTI in childhood?
At least 8% ## Footnote For boys, the percentage is at least 2%.
826
Presentation of UTI in **infants** includes which symptoms?
* Poor feeding * Vomiting * Irritability ## Footnote Symptoms vary by age group.
827
Presentation of UTI in **younger children** includes which symptoms?
* Abdominal pain * Fever * Dysuria ## Footnote Dysuria refers to painful urination.
828
Presentation of UTI in **older children** includes which symptoms?
* Dysuria * Frequency * Haematuria ## Footnote Haematuria is the presence of blood in urine.
829
Features suggesting an **upper UTI** include a temperature greater than what?
> 38ºC ## Footnote Other features include loin pain or tenderness.
830
According to NICE guidelines, urine samples should be checked if there are symptoms suggestive of a **UTI** or with unexplained fever of what temperature?
38°C or higher ## Footnote Urine should be tested after 24 hours at the latest.
831
What is the **preferred method** for urine collection in children?
Clean catch ## Footnote If not possible, urine collection pads should be used.
832
Which methods are **not suitable** for urine collection?
* Cotton wool balls * Gauze * Sanitary towels ## Footnote Invasive methods like suprapubic aspiration should only be used if non-invasive methods are not possible.
833
Infants less than **3 months old** with a UTI should be referred to whom?
A paediatrician ## Footnote Immediate referral is critical for this age group.
834
Children aged more than **3 months old** with an upper UTI should be considered for what?
Admission to hospital ## Footnote If not admitted, oral antibiotics should be given for 7-10 days.
835
What oral antibiotics are typically given for a **lower UTI** in children older than 3 months?
* Trimethoprim * Nitrofurantoin * Cephalosporin * Amoxicillin ## Footnote Treatment duration is usually for 3 days.
836
Parents should be asked to bring children back if they remain unwell after how many hours?
24-48 hours ## Footnote This is crucial for monitoring treatment effectiveness.
837
Antibiotic prophylaxis is not given after the first UTI but should be considered with what?
Recurrent UTIs ## Footnote This approach helps manage future infections.
838
When should an **ultrasound scan** be organized for infants under 6 months?
During acute admission when there are signs of an atypical UTI ## Footnote This is crucial for early diagnosis and management.
839
What are the **features of atypical UTI** in infants?
* Seriously ill * Poor urine flow * Abdominal or bladder mass * Raised creatinine * Septicaemia * Failure to respond to treatment with suitable antibiotics within 48 hours * Infection with non-E. coli organisms ## Footnote These features indicate a more serious condition requiring immediate attention.
840
True or false: **Raised white blood cells** alone are sufficient to equate an infection with septicaemia.
FALSE ## Footnote Raised white blood cells on their own do not confirm septicaemia.
841
Is **abdominal pain** a definitive indicator of atypical UTI?
No ## Footnote Abdominal pain is a general feature of UTI, but not necessarily indicative of atypical UTI.
842
What is the **sweat test** used for in diagnosing **cystic fibrosis**?
Measures sweat chloride levels ## Footnote Patients with CF have abnormally high sweat chloride levels.
843
What is the normal sweat chloride value in mEq/l?
< 40 mEq/l ## Footnote A value greater than 60 mEq/l indicates cystic fibrosis.
844
What sweat chloride level indicates **cystic fibrosis**?
> 60 mEq/l ## Footnote This level is indicative of cystic fibrosis in patients.
845
Name a cause of **false positive** sweat tests.
* Malnutrition * Adrenal insufficiency * Glycogen storage diseases * Nephrogenic diabetes insipidus * Hypothyroidism * Hypoparathyroidism * G6PD * Ectodermal dysplasia ## Footnote These conditions can lead to inaccurately high sweat chloride levels.
846
What is the most common reason for **false negative** sweat tests?
Skin oedema ## Footnote Often due to hypoalbuminaemia/hypoproteinaemia secondary to pancreatic exocrine insufficiency.
847
In **Testicular torsion**, what is usually absent?
Cremaster reflex ## Footnote This is a key diagnostic clue for testicular torsion.
848
What is the required treatment for **Testicular torsion**?
Urgent surgery ## Footnote Immediate intervention is necessary to prevent complications.
849
In **Epididymitis**, what is usually present?
Cremaster reflex ## Footnote This indicates a different condition compared to testicular torsion.
850
What sign indicates that pain improves with testicular elevation in **Epididymitis**?
Prehn sign ## Footnote This sign helps differentiate epididymitis from testicular torsion.
851
An **absent reflex** may suggest what type of spinal cord injury?
L1–L2 spinal cord injury ## Footnote This is relevant in the context of upper vs lower motor neuron lesions.