Paediatrics (Core Conditions)

Question 1

Asthma

(Acute asthma explanation, assessment, and management, long term management, Use of inhalation devices)

Answer 1

Acute asthma explanation:

Diagnosis:

• Episodic Symptoms
• Wheeze confirmed by healthcare professional
• Diurnal variability
• Atopic history
• Nothing suggesting alternative diagnosis

Assessment:

Diagnosis:

• Episodic Symptoms
• Wheeze confirmed by healthcare professional
• Diurnal variability
• Atopic history
• Nothing suggesting alternative diagnosis

Management:

ON DIAGRAM

Long term management:

ON DIAGRAM

Use of inhalational devices:

Question 2

Bronchiolitis

(Explanation, Dx and management)

Answer 2

Explanation:

• “Inflammation of small airways”*
• 80% cases caused by Respiratory Syncytial Virus (RSV)*
• 90% infants affected are aged 1-9 months old*

Clinical features:

• Coryza
• Dry Cough
• Breathing difficulties
• Poor Feeding
• End-inspiratory crackles
• Wheeze
• Recessions
• Nasal flaring

Diagnosis:

Bronchiolitis is usually a clinical diagnosis

• Measure Pulse Oximetry
• Blood gas or CXR only if concerned about respiratory failure
  
  • Humidified oxygen

Management:

Management is supportive

• CPAP may be used if ventilation is required
  
  • Feeding support – NG feeds or IV fluids

Question 3

Pneumonia

(causative organisms)

Answer 3

**Causative organisms:

• Newborn
  
  1. Bacteria
     
     1. Group B strep
     2. Gram negative enterococci
• Infants and Young Children
  
  1. Viruses
     
     1. RSV
     2. Adenovirus
     3. Rhinovirus
     4. Influenza/Parainfluenza
  2. Bacteria
     
     1. Strep. Pneumoniae
     2. H. Influenzae
     3. Bordatella Pertussis
     4. Chlamydia Trachomatis
• Children over 5
  
  1. Bacteria
     
     1. Mycoplasma Pneumoniae
     2. Streptococcus Pneumoniae
     3. Chlamydia Pneumoniae

Question 4

Cystic fibrosis

(Genetics Presentation)

Answer 4

Presentation:

• Since introduction of the heel prick test, most cases are picked up via Screening
• Neonates – Meconium Ileus (if the first poo is after the first 24 hours of life)
• Children – Frequent infection, failure to thrive, wheeze, cough, steatorrhea
• Resp – recurrent pneumonia, cough, wheeze, bronchiectasis
• Biliary obstruction – cirrhosis
• Pancreatic insufficiency – diabetes (from scarring), steatorrhoea, malabsorption – failure to thrive (dropping off growth chart)
• GI – constipation/obstruction
• Osteoporosis (as micronutrient deficiency as malabsorption)

Question 5

Respiratory parameters

(DOOO IT)

Question 6

Meningitis (causative organisms, presentation, diagnosis)

Answer 6

Causative organisms:

• Most commonly due to viral infection but bacterial meningitis can have severe consequences
• Viral: Enteroviruses, Epstein Barr Virus (EBV), Adenovirus, Mumps

Presentation:

Presentation

• Fever
• Headache
• Vomiting/Poor Feeding
• Drowsiness
• Photophobia
• Hypotonia
• Seizures

Examination Findings

• Purpuric rash (Meningococcal disease)
• Neck stiffness
• Bulging fontanelle
• Back arching
• Brudzinski/kernig sign
• Altered consciousness level
• Shock
• Focal Neurology

Diagnosis:

Investigations

• FBC, CRP
• Coag, U+Es
• LFTs
• Blood glucose
• Blood gas
• Blood Cultures
• Viral PCR
• Lumbar Puncture

Question 7

Otitis media

(presentation, explanation)

Answer 7

Presentation:

Presentation

• Fever
• Ear pain
• Hearling loss
• Loss of appetite
• Generally unwell
• Fever, ear pain, tugging at ears, discharge, preceded by urti, crying, irritable, poor appetite,
• Improve 3-7 days, don’t always need antibiotics unless systemically unwell
• Fluids, paracetamol, ibuprofen
• Tympanic membrane red and bulging, effusion
• Images – inflammation, effusion, perforation
• Glue ear – speech and language - caused by Eustachian tube dysfunction. Eustachina tube shorter in children – more frequent infections. development, hearing
• grommets

Explanation:

• Inflammation of middle ear*
• Otitis media is more common in infants*
• Eustachian tube is shorter, horizontal and functions poorly*
• Usually preceded by URTI*

Question 8

Skin infections

(bacterial:Impetigo, viral: chicken pox)

Answer 8

Bacterial: Impetigo

Impetigo is a skin infection that’s very contagious but not usually serious. It often gets better in 7 to 10 days if you get treatment. Anyone can get it, but it’s very common in young children.

Symptoms & signs:

Impetigo starts with red sores or blisters, but the redness may be harder to see in brown and black skin. The sores or blisters quickly burst and leave crusty, golden-brown patches.

The patches can:

• look a bit like cornflakes stuck to your skin
• get bigger
• spread to other parts of your body
• be itchy
• sometimes be painful
• Sores (non-bullous impetigo) or blisters (bullous impetigo) can start anywhere – but usually on exposed areas like your face and hands.
• The sores or blisters burst and form crusty patches.

Causes:

• Impetigo is caused by bacteria, usually staphylococci organisms.
• You might be exposed to the bacteria that cause impetigo when you come into contact with the sores of someone who’s infected or with items they’ve touched — such as clothing, bed linen, towels and even toys.

Risk factors:

• Factors that increase the risk of impetigo include:
• Age. Impetigo occurs most commonly in children ages 2 to 5.
• Close contact. Impetigo spreads easily within families, in crowded settings, such as schools and child care facilities, and from participating in sports that involve skin-to-skin contact.
• Warm, humid weather. Impetigo infections are more common in warm, humid weather.
• Broken skin. The bacteria that cause impetigo often enter the skin through a small cut, insect bite or rash.
• Other health conditions. Children with other skin conditions, such as atopic dermatitis (eczema), are more likely to develop impetigo. Older adults, people with diabetes or people with a weakened immune system are also more likely to get it.

Complications:

• Impetigo typically isn’t dangerous. And the sores in mild forms of the infection generally heal without scarring.*
• Rarely, complications of impetigo include:*
• Cellulitis. This potentially life-threatening infection affects the tissues underlying the skin and eventually may spread to the lymph nodes and bloodstream.
• Kidney problems. One of the types of bacteria that cause impetigo can also damage the kidneys.
• Scarring. The sores associated with ecthyma can leave scars.

Prevention:

• Keeping skin clean is the best way to keep it healthy. It’s important to wash cuts, scrapes, insect bites and other wounds right away.*
• To help prevent impetigo from spreading to others:*
• Gently wash the affected areas with mild soap and running water and then cover lightly with gauze.
• Wash an infected person’s clothes, linens and towels every day with hot water and don’t share them with anyone else in your family.
• Wear gloves when applying antibiotic ointment and wash your hands thoroughly afterward.
• Cut an infected child’s nails short to prevent damage from scratching.
• Encourage regular and thorough handwashing and good hygiene in general.
• Keep your child with impetigo home until your doctor says they aren’t contagious.

Viral: Chicken Pox

Chickenpox is common and mostly affects children, although you can get it at any age. It usually gets better by itself after 1 to 2 weeks without needing to see a GP. Chickenpox is an infection caused by the varicella-zoster virus. It causes an itchy rash with small, fluid-filled blisters. Chickenpox is highly contagious to people who haven’t had the disease or been vaccinated against it. Today, a vaccine is available that protects children against chickenpox.

Checking if it chickenpox:

1. Chickenpox starts with red spots. They can appear anywhere on the body and might spread or stay in a small area.
2. The spots fill with fluid and become blisters. The blisters may burst.
3. The spots scab over. New spots might appear while others are becoming blisters or forming a scab.

Symptoms

The itchy blister rash caused by chickenpox infection appears 10 to 21 days after exposure to the virus and usually lasts about five to 10 days. Other signs and symptoms, which may appear one to two days before the rash, include:

• Fever
• Loss of appetite
• Headache
• Tiredness and a general feeling of being unwell (malaise)

Once the chickenpox rash appears, it goes through three phases:

• Raised pink or red bumps (papules), which break out over several days
• Small fluid-filled blisters (vesicles), which form in about one day and then break and leak
• Crusts and scabs, which cover the broken blisters and take several more days to heal

New bumps continue to appear for several days, so you may have all three stages of the rash — bumps, blisters and scabbed lesions — at the same time. You can spread the virus to other people for up to 48 hours before the rash appears, and the virus remains contagious until all broken blisters have crusted over.

The disease is generally mild in healthy children. In severe cases, the rash can cover the entire body, and lesions may form in the throat, eyes, and mucous membranes of the urethra, anus and vagina.

Causes

Chickenpox infection is caused by the varicella-zoster virus. It can spread through direct contact with the rash. It can also spread when a person with the chickenpox coughs or sneezes and you inhale the air droplets.

Risk factors

Your risk of becoming infected with the varicella-zoster virus that causes chickenpox is higher if you haven’t already had chickenpox or if you haven’t had the chickenpox vaccine. It’s especially important for people who work in child care or school settings to be vaccinated.

Most people who have had chickenpox or have been vaccinated against chickenpox are immune to chickenpox. A few people can get chickenpox more than once, but this is rare. If you’ve been vaccinated and still get chickenpox, symptoms are often milder, with fewer blisters and mild or no fever.

Complications

Chickenpox is normally a mild disease. But it can be serious and can lead to complications including:

• Bacterial infections of the skin, soft tissues, bones, joints or bloodstream (sepsis)
• Dehydration
• Pneumonia
• Inflammation of the brain (encephalitis)
• Toxic shock syndrome
• Reye’s syndrome in children and teenagers who take aspirin during chickenpox
• Death

Who’s at risk?

People who are at higher risk of chickenpox complications include:

• Newborns and infants whose mothers never had chickenpox or the vaccine
• Adolescents and adults
• Pregnant women who haven’t had chickenpox
• People who smoke
• People whose immune systems are weakened by medication, such as chemotherapy, or by a disease, such as cancer or HIV
• People who are taking steroid medications for another disease or condition, such as asthma

Chickenpox and pregnancy

Low birth weight and limb abnormalities are more common among babies born to women who are infected with chickenpox early in their pregnancy. When a mother is infected with chickenpox in the week before birth or within a couple of days after giving birth, her baby has a higher risk of developing a serious, life-threatening infection.

If you’re pregnant and not immune to chickenpox, talk to your doctor about the risks to you and your unborn child.

Chickenpox and shingles

If you’ve had chickenpox, you’re at risk of a complication called shingles. The varicella-zoster virus remains in your nerve cells after the skin infection has healed. Many years later, the virus can reactivate and resurface as shingles — a painful cluster of short-lived blisters. The virus is more likely to reappear in older adults and people who have weakened immune systems.

The pain of shingles can last long after the blisters disappear. This is called postherpetic neuralgia and can be severe.

The shingles vaccine (Shingrix) is recommended for adults who have had chickenpox. Shingrix is approved and recommended for people age 50 and older, including those who’ve previously received another shingles vaccine (Zostavax). Zostavax, which isn’t recommended until age 60, is no longer sold in the United States.

Prevention

The chickenpox (varicella) vaccine is the best way to prevent chickenpox. Experts from the CDC estimate that the vaccine provides complete protection from the virus for nearly 98% of people who receive both of the recommended doses. When the vaccine doesn’t provide complete protection, it significantly lessens the severity of chickenpox.

The chickenpox vaccine (Varivax) is recommended for:

• Young children. In the United States, children receive two doses of the varicella vaccine — the first between ages 12 and 15 months and the second between ages 4 and 6 years — as part of the routine childhood vaccination schedule.

The vaccine can be combined with the measles, mumps and rubella vaccine, but for some children between the ages of 12 and 23 months, the combination may increase the risk of fever and seizure from the vaccine. Discuss the pros and cons of combining the vaccines with your child’s doctor.

• Unvaccinated older children. Children ages 7 to 12 years who haven’t been vaccinated should receive two catch-up doses of the varicella vaccine, given at least three months apart. Children age 13 or older who haven’t been vaccinated should also receive two catch-up doses of the vaccine, given at least four weeks apart.
• Unvaccinated adults who’ve never had chickenpox and are at high risk of exposure.This includes health care workers, teachers, child care employees, international travelers, military personnel, adults who live with young children and all women of childbearing age.

Adults who’ve never had chickenpox or been vaccinated usually receive two doses of the vaccine, four to eight weeks apart. If you don’t remember whether you’ve had chickenpox or the vaccine, a blood test can determine your immunity.

The chickenpox vaccine isn’t approved for:

• Pregnant women
• People who have weakened immune systems, such as those who are infected with HIV, or people who are taking immune-suppressing medications
• People who are allergic to gelatin or the antibiotic neomycin

Talk to your doctor if you’re unsure about your need for the vaccine. If you’re planning on becoming pregnant, consult with your doctor to make sure you’re up to date on your vaccinations before conceiving a child.

Signs & symptoms

Other symptoms

You might get symptoms before or after the spots appear, including:

• a high temperature
• aches and pains, and generally feeling unwell
• loss of appetite

Chickenpox is very itchy and can make children feel miserable, even if they do not have many spots. Chickenpox is usually much worse in adults.

It’s possible to get chickenpox more than once, although it’s unusual.

Question 9

UTI

(Presentation - babies and children, interpretation of urine investigations, explanation)

Answer 9

Presentation (babies and children):

Presentation is often non specific in infants

Infants

• Fever
• Vomiting
• Lethargy
• Poor feeding
• Irritability

Older children

• Fever
• Dysuria
• Increased frequency
• Abdominal pain
• Vomiting
• Incontinence

Interpretation of urine investigations:

Initial investigations

• Urinalysis
• Urine culture and sensitivity
  
  • E.coli, Klebsiella
• No need for further investigations unless concerns of sepsis

Further investigations are advised after first lab confirmed diagnosis of UTI

• Renal USS
• Micturating Cystorethrogram (MCUG)
• DMSA (dimercaptosuccinic acid) scan

Explanation:

• Bacterial and host factors that predispose to infection
  
  • Infecting organism
    
    • UTI usually the result of bowel flora entering the urinary tract
    • Common organisms:
      
      • Escherichia coli
      • Klebsiella
      • Proteus
        
        • More common in boys than girls
        • Splits urea molecules to ammonia thus, alkalinizing the urine
      • Pseudomonas
        
        • May indicate structural abnormality in urinary tract affecting drainage and more common in children with plastic catheters
      • Streptococcus faecalis
  • Antenatally diagnosed renal or urinary tract abnormality
  • Incomplete bladder emptying
    
    • Contributing factors:
      
      • Infrequent voiding, resulting in bladder enlargement
      • Vulvitis
      • Incomplete micturition with residual postmicturition bladder volumes
      • Obstruction by a loaded rectum from constipation
      • Neuropathic bladder
      • Vesicoureteric reflux
  • Vesiccoureteric reflux (VUR)
    
    • Developmental anomaly of the vesicoureteric junctions
    • The ureters are displaced laterally and enter directly into the bladder rather than at an angle, with shortened or absent intramural course
    • Associate with renal dysplasia
    • Severity varies from reflux into the lower end of an undilated ureter during micturition to the severest form with reflux during bladder filling and voiding with a distended ureter, renal pelvis, clubbed calyces.
    • Is important as:
      
      • Urine returning to bladder from ureters voiding results in incomplete bladder emptying which encourages infection
      • The kidneys may become infected (pyelonephritis) especially if there is intrarenal reflux
      • Bladder voiding pressure is transmitted to the renal papillae which may contribute to renal damage if voiding pressures are high

Question 10

Immunisations

(schedule and illness prevented)

Answer 10

• 6 in 1 vaccine:
  
  • Diphtheria
  • Hepatitis B
  • Hib (haemophilus influenzae type b)
  • Polio
  • Tetanus
  • Whooping cough (pertussis)
• MenB
  
  • Protect you against meningococcal group B bacteria

• 4 in 1 pre-school booster:
  
  • Diphtheria
  • Tetanus
  • Whooping cough
  • Polio
• 3 in 1 teenage booster:
  
  • Tetanus
  • Diphtheria
  • Polio
• MenACWY
  
  • Meningitis
  • Septicaemia

Question 11

Gastroenteritis

(Causative organisms Assessment of dehydration, Fluid and electrolyte explanation and management)

Answer 11

Question 12

Gastro-oesophageal reflux

(assessment and management)

Answer 12

Assessment:

• Functional immaturity of lower oesophageal sphincter
• Predominantly fluid diet
• Mainly Horizontal Posture
• Short intra-abdominal length of oesophagus

Reflux is common in infancy and is usually benign and self-limiting

If it causes significant problems it is termed GORD and is treated

Infants

• Recurrent vomiting or regurgitation after feeds
• Discomfort lying flat after feeds
• Usually well and normal growth

Older Children

• Heartburn
• Epigastric pain
• Vomiting
• Normally diagnosed clinically and no investigations required
• More common in children with cerebral palsy or neurodevelopmental disorders

Management:

Management

• Reassurance – usually resolves by age 1
• Feeding Assessment
• Smaller, more frequent feeding
• Feed thickeners
• Alginate Therapy (Gaviscon)
• 4 week trial of PPI or H₂ Receptor antagonist

Question 13

Coeliac disease

(Presentation)

Answer 13

Presentation:

Presentation

• Malabsorption at 8-24 after weaning
• Faltering growth and buttock wasting
• Abdominal pain and distension
• Abnormal stools
• Non specific GI symptoms
• Anaemia (iron and/or folate deficiency)
• EXTRA*
• Failure to thrive*
• Abdominal pain, diarrhoea, constipation, iron deficiency anaemia, bloating, fatigue*
• Villous atrophy – gluten – image*
• Autoimmune disorder*

Question 14

Obesity in children

(BMI measurement, interventions)

Answer 14

BMI Measurement

• BMI = weight in kg/(height in m)^2
  
  • It is expressed as a BMI centile in relation to age-matched and sex-matched population
• BMI over 91^st centile = overweight
• BMI over 98^th centile = obese
• National measurement programme measures height and weight in children in reception at school (aged 4-5) and year 6 (aged 10-11)
• In the UK more than 1/3 of children are overweight or obese

Interventions:

• Decrease fat intake
• Increase fruit and vegetables
• Reduction in time spent in front of small screens (this appears to be the most effective single factor)
• Increased physical activity and education

Question 15

Faltering weight

(causes)

Answer 15

***Faltering weight gain (causes)

• This is the suboptimal weight gain in infants and young children
• If prolonged and severe, it will result in reduction in height and reduction in head growth which may be associated with delayed development
• Describes the sustained drop down 2 centile spaces

Causes:

• Inadequate intake
  
  • Environmental
    
    • Inadequate availability of food
      
      • Feeding problems (insufficient breast milk/poor technique/incorrect preparation of formula)
      • Insufficient/unsuitable food
      • Lack of regular feeding times
      • Infant difficult to feed e.g. disinterested or resists feeding
      • Problems with budgeting, shopping, cooking food, famine
      • Low socioeconomic status
    • Psychosocial deprivation
      
      • Poor maternal-infant interaction
      • Maternal depression
      • Poor maternal education
    • Neglect or child abuse
      
      • Deliberate underfeeding to generate weight faltering
  • Underlying pathology
    
    • Impaired suck/swallow
      
      • Oro-motor dysfunction, neurological disorder e.g. cerebral palsy
      • Cleft lip
    • Chronic illness leading to anorexia
      
      • Crohn disease
      • Chronic kidney disease
      • Cystic fibrosis
      • Liver disease
• Inadequate retention
  
  • Vomiting, severe gastro-oesophageal reflux
• Malabsorption
  
  • Coeliac disease, cystic fibrosis, cow’s milk protein allergy, cholestatic liver disease, short gut syndrome, post-necrotising enterocolitis
• Failure to utilise nutrients
  
  • Syndromes:
    
    • Chromosomal disorders:
      
      • Down syndrome, intrauterine growth restriction (IUGR),
    • Extreme prematurity
    • Congenital infections
    • Metabolic disorders
      
      • Congenital hypothyroidism
    • Storage disorders
    • Amino and organic acid disorders
• Increased requirements
  
  • Thyrotoxicosis
  • Cystic fibrosis
  • Malignancy
  • Chronic infection (HIV, immune deficiency)
  • Congenital heart disease
  • Chronic kidney disease

Question 16

Hepatomegaly

(causes)

Answer 16

• It is an important sign of heart failure in infants
• Liver in infants is normally palpable 1-2cm below the costal margin

Causes:

• Infection
  
  • Congenital
  • Infectious mononucleosis
  • Hepatitis
  • Malaria
  • Parasitic infection
• Haematological
  
  • Sickle cell anaemia
  • Thalassaemia
• Liver disease
  
  • Chronic active hepatitis
  • Portal hypertension
  • Polycystic disease
• Malignancy
  
  • Leukaemia
  • Lymphoma
  • Neuroblastoma
  • Wilms’ tumour
  • Hepatoblastoma
• Metabolic
  
  • Glycogen and lipid storage disorders
  • Mucopolysaccharidoses
• Cardiovascular
  
  • Heart failure
• Apparent
  
  • Chest hyper expansion from bronchiolitis or asthma

Question 17

Appendicitis

(Presentation and diagnosis)

Answer 17

Presentation:

Signs

• Abdominal pain
  
  • Initially central and colicky
  • Later localises to RIF
• Anorexia
• Vomiting

Signs

• Fever
• Pain aggravated by movement
• Tenderness and guarding in RIF (McBurney’s point)

If unwell, abnormal observations, high temperature ?Perforation

Diagnosis:

Investigations

• Full Blood Count- ↑wcc
• CRP
• Ultrasound Scan

Question 18

Pyloric Stenosis

(Presentation)

Answer 18

Question 19

Childhood development

(normal milestones and developmental assessment)

Answer 19

Normal milestones:

• Concentrate on each field of development (gross motor, vision and fine motor, hearing, speech and language, social, emotional and behavioural)
• 4 Domains of development:
  
  • Gross motor
  • Vision and fine motor
  • Hearing, speech and language
  • Social, emotional and behavioural
• Delays – when a child takes longer to reach certain development milestones than other children their age (usually see in infants, toddlers and pre-schoolers)
• Regression – a process that occurs when a child revisits an earlier stage of development and behaves accordingly (usually seen in school-age and adolescents)
• Global – Affects more than one domain
• Focal – Affects only one domain
• Static –
• Progressive -
• Ask about the sequence of skills achieved as well as those likely to develop in the near future

Gross motor development (median ages)

• Newborn
  
  • Limbs flexed, symmetrical posture
  • Marked head lag on pulling
• 6-8 weeks
  
  • Raises head to 45degree in prone
• 6-8 months
  
  • Sits without support
  • 6 months round back
  • 8 months straight back
• 8-9 months
  
  • Crawling
• 10 months
  
  • Stands independently
  • Cruises around furniture
• 12 months
  
  • Walks unsteadily, broad gait, hands apart
• 15 months
  
  • Walks steadily

Vision and fine motor (median ages)

• 6 weeks
  
  • Follows moving object or face by turning the head
• 4 months
  
  • Reaches out for toys
• 4-6 months
  
  • Palmar grasp
• 7 months
  
  • Transfers toys from one hand to another
• 10 months
  
  • Mature pincer grip
• 16-18 months
  
  • Makes marks with crayon
• 14 months – 4 years
  
  • 18 months – tower of three
  • 2 years – tower of six
  • 2.5 years – tower of eight or a train with 4 bricks
  • 3 years – bridge from a model
  • 4 years – steps (after demonstration)
• 2-5 years
  
  • 2 years – line
  • 3 years – circle
  • 3.5 years – cross
  • 4 years – square
  • 5 years - triangle

Hearing, speech and language (median ages)

• Newborn
  
  • Startles to loud noises
• 3-4 months
  
  • Vocalises alone or when spoken to
  • Coos and laughs
• 7 months
  
  • Turns to soft sounds out of sight
• 7-10 months
  
  • At 7 months sounds used indiscriminately
  • At 10 months sounds used discriminately to parents
• 12 months
  
  • Two or three words other than ‘dada’ or ‘mama’
• 18 months
  
  • 6-10 words
  • Shows 2 parts of body
• 20-24months
  
  • Joins two or more words to make a simple sentence
• 2.5years-3years
  
  • Talks constantly in 3-4 word sentences

Social, emotional and behavioural development (median ages)

• 6 weeks
  
  • Smiles responsively
• 6-8 months
  
  • Puts food in mouth

10-12 months

• Waves bye-bye
• Plays peek a boo
• 12 months
  
  • Drinks from a cup with 2 hands
• 18 months
  
  • Holds spoon and gets food safely to mouth
• 18-24 months
  
  • Symbolic play
• 2 years
  
  • Pulls off some clothing (and when going to toilet)
• 2.5-3 years
  
  • Parallel play
  • Interactive play evolving
  • Takes turns

Red flags:

• Infants (0-1)
  
  • No social smile by 6-8 weeks (vision, fixing & following)
  • Poor tone:
    
    • Lacks head/trunk control à delayed sitting, standing, walking
  • Limb preference
  • Persistent fisting of hands
  • Leg scissoring – difficulty changing nappy
• Toddlers (1-3)
  
  • Not walking or talking by 18 mo (hearing, turns to sounds)
  • Not linking words by 2 yo
• Preschoolers (3-5)
  
  • No collaborative play
  • Language not discernable by non-family
• Regressions at any age

Developmental assessment:

History:

• More fluid structure
• Information gathering FIRST
  
  • Description of concern from parents
  • Timeline
  • General overview of developmental domains
  • Looking for risk factors, changes, triggers
• Red Flags
  
  • Present since birth
  • Weight faltering
  • Dysmorphic features
  • Family history
  • Abnormal antenatal scan
  • Specific developmental red flags as listed on previous slide

Examination:

• Structured play, involve parents!
• Have a plan, go through the domains
• Don’t rely on parent report, but ask if child isn’t cooperating
• Remember neuro + developmental link
  
  • Tone, Power, Reflexes, Coordination
• Give medical context to everyday activities
  
  • Feeding, Playing

Diagnostic reasoning:

• Milestones & Red Flags
• Core Presentations
  
  • Gross motor/Fine motor
  • Social delay
  • Speech and Language
  • Regressions
• 3 Questions
  
  • Is it global or focal?
  • Is it a delay or a regression?
  • Is it static or progressive?
• Core Conditions
  
  • CP
  • Down’s
  • Epilepsy
  • Muscular Dystrophy
  • Safeguarding
  • Autism
  • ADHD

Investigations:

• Bedside
  
  • OBS
  • Ht/Wt
  • Head circumference (important)
• Bloods
  
  • U&E’s
  • FBC
  • Ferritin
  • Creatinine Kinase
  • Genetic studies
    
    • Fragile X
  • Metabolic causes
    
    • Thyroid function
• Imaging
  
  • CT/MRI
• Other
  
  • Vision/Hearing screens
  • Full Neuro assessment
  • Denver Screen
  • Bailey’s screen
  • EEG

Management:

• MDT! – Make it patient specific
  
  • Ask impact questions (How is this affecting day to day life -> sleeping/eating/playing)
• Medications?
• Surgery?
• Help prevent complications
  
  • Constipation
  • Reflux
  • UTI’s
  • Contractures/mobility issues
  • Frequent chest infections

Question 20

Autism spectrum disorder

(Presenting features)

Answer 20

Difficulty by the child understanding and accepting even quite subtle changes can lead to avoidant and often extreme behaviours

Presenting features:

• Impaired social interaction
  
  • Does not seek comfort, share pleasure, form close relationships
  • Prefers own company, no interest or ability in interacting with peers (play or emotions)
  • Gaze avoidance
  • Lack of joint attention
  • Socially and emotionally inappropriate behaviour
  • Does not appreciate that others have thoughts and feelings
  • Lack of appreciation of social cues
• Speech and language disorder
  
  • Delayed development (may be severe)
  • Limited use of gestures and facial expressions
  • Formal pedantic language
  • Monotonous voice
  • Impaired comprehension with over-literal interpretation of speech
  • Echoes questions, repeats instructions, refers to self as ‘you’
  • Can have superficially good expressive speech
• Imposition of routines with ritualistic and repetitive behaviours
  
  • On self and others, with violent temper tantrums if disrupted
  • Unusually stereotypical movements such as hand flapping and tiptoe gate
  • Concrete play
  • Poverty of imagination in play and general activities
  • Peculiar interests and repetitive adherence
  • Restriction in behaviour repertoire
• Comorbidities
  
  • General learning and attention difficulties (about 2/3)
  • Seizures (about ¼ often not till adolescence)
  • Affective disorders
    
    • Anxiety, sleep disturbance
  • Mental health disorders
    
    • Attention deficit and hyperactivity disorder

Question 21

ADHD

(Presenting features)

Answer 21

Child ‘acts before thinking’ and so frequently lashes out or shouts when frustrated

Presenting features:

• Child in undoubtedly overactive in most situations (most in familiar or uninteresting situations)
• Impaired concentration with a short attention span or distractibility
• Unable to sustain attention or persist with tasks
• They cannot control their impulses:
  
  • They manifest disorganised, poorly regulated and excessive activity
• Have difficulty in taking turns or sharing
• Are socially disinhibited
• Butt into people’s conversations and play
• They are fidgety
• Have excessive movements inappropriate to task completion
• Lose possessions
• Short tempers
• Form poor relationships with other children
• Children to poorly at school and lose self-esteem
• Affects more males than females
• Easily distracted and impulsive

Question 22

Congenital Heart Disease

(With or without cyanosis)

Answer 22

There are many types of congenital heart defects. If the defect lowers the amount of oxygen in the body, it is called cyanotic. If the defect doesn’t affect oxygen in the body, it is called acyanotic.

With cyanosis

• Cyanotic heart defects are defects that allow oxygen-rich blood and oxygen-poor blood to mix.*
• In cyanotic heart defects, less oxygen-rich blood reaches the tissues of the body. This results in the development of a bluish tint (cyanosis) to the skin, lips, and nail beds.*
• Cyanotic heart defects include:*
• Tetralogy of Fallot.
• Transposition of the great vessels.
• Pulmonary atresia.
• Total anomalous pulmonary venous return.
• Truncus arteriosus.
• Hypoplastic left heart syndrome.
• Tricuspid valve abnormalities.

Without cyanosis

• Congenital heart defects that don’t normally interfere with the amount of oxygen or blood that reaches the tissues of the body are called acyanotic heart defects. A bluish tint of the skin isn’t common in babies with acyanotic heart defects, although it may occur. If a bluish tint occurs, it often is during activities when the baby needs more oxygen, such as when crying and feeding.*
• Acyanotic congenital heart defects include:*
• Ventricular septal defect (VSD).
• Atrial septal defect (ASD).
• Atrioventricular septal defect.
• Patent ductus arteriosus (PDA).
• Pulmonary valve stenosis.
• Aortic valve stenosis.
• Coarctation of the aorta.

Question 23

Heart murmurs

(Interpretation of findings)

Answer 23

The most common presentation of congenital heart disease is with a heart murmur

Interpretation of findings

• The features of an innocent murmur can be remembered as the 5 S’s:
  
  • ‘InnoSent’ murmur
  • _S_oft
  • _S_ystolic
  • a_S_ymptomatic
  • left _S_ternal edge
• Aortic stenosis
  
  • Aortic stenosis (AS) refers to a tightening of the aortic valve at the origin of the aorta.
  • Aortic stenosis is associated with an ejection systolic murmur heard loudest over the aortic valve. The murmur is described as having a ‘crescendo-decrescendo’ quality (it appears as diamond-shaped on a phonogram). The murmur of aortic stenosis commonly radiates to the carotid arteries.
  • Typical features of an aortic stenosis murmur include:
    
    • Ejection systolic murmur heard loudest over the aortic area
    • Radiates to the carotid arteries
    • Loudest on expiration and when the patient is sitting forwards
  • Other clinical features of aortic stenosis may include:
    
    • Slow rising pulse with narrow pulse pressure
    • Non-displaced, heaving apex beat (if present indicates left ventricular hypertrophy)
    • Reduced or absent S2 (a sign of moderate-severe aortic stenosis)
    • Reverse splitting of S2: aortic valve closes after pulmonary valve (due to the longer time required for blood to exit the left ventricle)
• Mitral regurgitation
  
  • Mitral regurgitation (MR) occurs when there is backflow (regurgitation) of blood from the left ventricle into the left atria (through the mitral valve) during ventricular systole.
  • Mitral regurgitation is associated with a pansystolic murmur heart loudest over the mitral area and radiating to the axilla.
  • Typical features of mitral regurgitation murmur include:
    
    • A pansystolic murmur heard loudest over mitral area
    • Radiation of the murmur to the axilla
    • Heard loudest using the bell of the stethoscope
    • Loudest on expiration in the left lateral decubitus position
  • Other clinical features may include:
    
    • Displaced, hyperdynamic apex beat
• Aortic regurgitation
  
  • Aortic regurgitation (AR) occurs when there is backflow of blood from the aorta into the left ventricle during ventricular diastole.
  • Aortic regurgitation is associated with an early diastolic murmur heard loudest at the left sternal edge
  • Typical features of an aortic regurgitation murmur include:
    
    • Decrescendo early diastolic murmur
    • Heard loudest at left sternal edge (the direction that the turbulent blood flows) sometimes heard loudest over the aortic area
    • Austin Flint murmur: a low pitched rumbling mid-diastolic murmur heard best at the apex. This is caused by the regurgitated blood through the aortic valve mixing with blood from the left atrium, during atrial contraction. An Austin Flint murmur is a sign of severe aortic regurgitation.
  • Other clinical features of aortic regurgitation may include:
    
    • Collapsing pulse (a ‘water hammer pulse’ with wide pulse pressure)
    • Displaced, hyperdynamic apex beat
• Mitral stenosis
  
  • Mitral stenosis (MS) is narrowing of the mitral valve, which results in decreased filling of the left ventricle during systole and increased left atrial pressure (due to incomplete left atrial emptying).
  • Mitral stenosis is associated with a low-pitched, rumbling, mid-diastolic murmur heard loudest over the apex.
  • Typical features of a mitral stenosis murmur include:
    
    • Low-pitched, rumbling mid-diastolic murmur with an opening click (click heard in mid-diastole when the mitral valve opens)
    • Murmur is heard loudest over the apex
    • Loudest in left lateral decubitus position on expiration
  • Other clinical features of mitral stenosis may include:
    
    • A low-volume pulse which may be irregularly, irregular (atrial fibrillation is common in mitral stenosis)
    • Loud first heart sound with tapping apex beat (due to a palpable closing of the mitral valve)
    • A malar flush (plum-red discolouration of the cheeks)
• Mitral valve prolapse
  
  • A mitral valve prolapse occurs when the mitral valve leaflets prolapse into the left atrium during systole.
  • Mitral valve prolapse is associated with a combination of a mid-systolic click and mid to late-systolic murmur.
  • Typical features of a mitral valve prolapse murmur include:
    
    • Mid-systolic click (prolapse of the mitral valve into left atrium)
    • Followed by a mid or late-systolic murmur
    • Heard loudest at the apex
    • Loudest in expiration
• Tricuspid regurgitation
  
  • Tricuspid regurgitation occurs when there is backflow of blood from the right ventricle into the right atrium during ventricular systole. This causes an increase in right atrial pressure and elevated venous pressures.
  • Tricuspid regurgitation is associated with a pansystolic murmur heard loudest over the tricuspid region.
  • Typical features of a tricuspid regurgitation murmur include:
    
    • Pansystolic murmur
    • Heard loudest over the tricuspid region
    • Loudest during inspiration
  • Other clinical features of tricuspid regurgitation may include:
    
    • Large ‘v-waves’ visible in the jugular veins: caused by the right atrial filling of blood against a closed tricuspid valve
    • Visible/palpable hepatic pulsations
    • Signs of right-sided heart failure: right ventricular heave, peripheral oedema, hepatomegaly, ascites
• Pulmonary stenosis
  
  • Pulmonary stenosis (PS) refers to narrowing of the pulmonary valve. It is commonly associated with other congenital heart defects.
  • Typical features of a pulmonary stenosis murmur include:
    
    • Ejection systolic murmur heard loudest over pulmonary area
    • Loudest during inspiration
    • Radiates to left shoulder/left infraclavicular region
    • In severe pulmonary stenosis, the murmur is longer and may obscure the sound of A2
  • Other clinical features of pulmonary stenosis may include:
    
    • Prominent ‘a waves’ in the jugular veins
    • Widely split S2: blood from the ventricles takes longer to pass through a narrow pulmonary valve, so pulmonary valve closure occurs much later than aortic valve closure
    • P2 may be soft and inaudible
    • Right ventricular dilatation can lead to a right ventricular heave, tricuspid regurgitation and peripheral signs of right-sided heart failure (e.g. peripheral oedema, ascites etc)
• Pulmonary regurgitation
  
  • Pulmonary regurgitation (PR) occurs when there is backflow of blood from the pulmonary artery into the right ventricle during ventricular diastole. Pulmonary regurgitation is rare.
  • Pulmonary regurgitation is usually asymptomatic.
  • Typical features of a pulmonary regurgitation murmur include:
    
    • Early decrescendo murmur heard loudest over the left sternal edge
    • Loudest during inspiration
    • Usually due to pulmonary hypertension: known as a Graham Steell murmur when associated with mitral stenosis
• Tricuspid stenosis
  
  • Tricuspid stenosis (TS) refers to narrowing of the tricuspid valve.
  • Tricuspid stenosis is associated with a soft diastolic murmur loudest at 3rd – 4th intercostal space at the left sternal edge
  • Typical features of a tricuspid stenosis murmur include:
    
    • Mid-diastolic murmur (rarely audible)
    • Loudest at 3rd-4th intercostal space at the left sternal edge
    • Loudest during inspiration
  • Other clinical features of tricuspid stenosis may include:
    
    • Raised JVP with giant ‘a waves’
    • Peripheral oedema, ascites

Lesion

Cardiac cycle

Character

Breathing

Location

Radiation

Aortic stenosis

Systolic

Ejection systolic

Expiration

2nd intercostal space right sternal edge

Carotid arteries

Pulmonary stenosis

Systolic

Ejection systolic

Inspiration

2nd intercostal space left sternal edge

Left shoulder/infra-clavicular

Mitral regurgitation

Systolic

Pansystolic

Expiration

Apex

Axilla

Tricuspid regurgitation

Systolic

Pansystolic

Inspiration

Left sternal edge

Mitral valve prolapse

Mid systolic + opening click

Expiration

Apex

Aortic regurgitation

Early diastolic

Decrescendo

Expiration

Left sternal edge (or 2nd intercostal space right sternal edge)

Left sternal edge

Pulmonary regurgitation

Early diastolic

Decrescendo

Inspiration

2nd intercostal space left sternal edge

Mitral stenosis

Mid/late diastolic

Expiration

Apex

Tricuspid stenosis

Mid/late diastolic

Inspiration

Left sternal edge

Question 24

Kawasaki Disease

(Diagnostic Criteria)

Answer 24

Cause:

• Poorly understood – potential viral, environmental or autoimmune.

Diagnostic criteria:

• Fever for >5 days plus 4/5 of:
  
  • Bilateral (non purulent) conjunctivitis
  • Mucous membrane changes
  • Tender cervical lymphadenopathy
  • Polymorphous rash
  • Peripheral changes – oedema/erythema/desquamation

Investigation:

• ASOT, echo, platelets, ESR, CRP

Complications:

• Coronary artery aneurysm -> other cardiac problems.

Management:

• IV Ig (Intra-venous Immunoglobulin)
• High dose aspirin
  
  • Benefit of aspirin in this case outweighs risk of Reye syndrome

Question 25

Febrile Seizures

(Explanation and Management)

Answer 25

Febrile convulsion:

Explanation:

• Seizure with temperature >38C without CNS infection (e.g. meningitis)
• 6 months – 6 years
• Commonest cause of seizures in children
• Mostly benign – treat underlying
• cause! – Supportive management*
• for viral infections*
• Usually tonic-clonic seizures (brief)
• Increase in incidence if have a 1^st degree relative with febrile seizures
• Simple febrile seizures do not cause brain damage
• If >5 mins requires medical management for seizure
• Complex febrile seizures e.g. those which are focal, prolonged or repeated in the same illness -> INCREASE risk of epilepsy

Management:

• Reassurance
  
  • Usually benign
• Should check if bacterial infection e.g. meningitis (neck stiffness and photophobia -> not so common in less that 18 months hence, infection screen e.g. blood culture, urine culture and lumbar puncture for cerebrospinal fluid)
• Fever management
  
  • Antipyretics (paracetamol/ibuprofen), encourage PO fluids, removing XS clothing
• Safety netting information & first aid
  
  • Recovery position, removed hard/sharp objects away, timing
  • 999 if holds breath>30s, convulsion >5mins
  • Signs of worsening underlying infection/sepsis to return
• If >5 mins rescue therapy with buccal midazolam can be supplied
• Causes:*
• Viral infections, OM, tonsillitis, gastroenteritis, post-immunisation

Question 26

Childhood Epilepsy

(Differential Diagnosis, Seizure classification)

Answer 26

Most epilepsy is ‘genetic’

Differential diagnosis

• INFANT
  
  • Cardiac arrhythmias
  • Hyperexplexia
  • Structural cardiac lesion
  • Benign myoclonus of infancy • Paroxysmal dystonia
  • Sandifers syndrome/GOR
  • Benign paroxysmal torticollis • Alternating hemiplegia
  • (Infantile spasms)
  • Self-gratification behaviour
  • Shuddering attacks
  • Benign sleep myoclonus
• TODDLER
  
  • Cardiac arrhythmias
  • Reflex anoxic seizures
  • Cyanotic breath-holding attacks
  • Hyperekplexia
  • Myoclonus
  • Paroxysmal dyskinesias
  • Sandifer syndrome
  • Benign paroxysmal vertigo/torticollis
  • Migraine
  • Cataplexy
  • Akinetic (drop) attacks
  • (Febrile convulsions)
  • Overflow movements
  • Self-gratification behaviour
  • Stereotypies/ritualistic behaviour (e.g. Children with learning difficulties)
  • Head banging
  • Confusional arousal
  • Night terrors
• OLDER CHILD
  
  • Cardiac arrhythmias
  • Neurocardiogenic syncope
  • Reflex anoxic seizures
  • Neurocardiogenic syncope
  • Hyperexplexia
  • Myoclonus
  • TICs
  • Paroxysmal dyskinesias
  • Benign paroxysmal vertigo/torticollis
  • Migraine
  • Eye movement disorders
  • Episodic ataxia
  • Cataplexy
  • Akinetic (drop) attacks
  • Daydreams
  • Hyperventilation panic/anxiety attacks
  • Non epileptic attack disorder
  • Pseudo-syncope or psychogenic syncope
  • Stereotypes/ritualistic behaviour (e.g. Children with learning difficulties)
  • Confusional arousal
  • REM sleep disorders
  • Night terrors

**Seizure classification

• Classification of seizures (ILAE)
  
  • Generalised
    
    • Discharge arises from both hemispheres, includes absence, myoclonic, tonic, tonic-clonic, atonic, may be in combination or in sequence
  • Focal
    
    • Where seizures arise from one or part of one hemisphere
    • Level of consciousness may be retained/lost or evolve into a secondarily generalised tonic-clonic seizure
    • Manifestations will depend on the part of the brain where the discharge originated and moves to:
      
      • Frontal seizures
        
        • Involves motor/pre-motor cortex
        • May lead to clonic movements travel proximally
        • OR seizure with both upper limbs raised high for several seconds
        • Asymmetrical tonic seizures can be seen (bizarre and hypermotor)
      • Temporal lobe seizures
        
        • Present with strange warning feelings: smell and taste abnormalities, distortions in shapes and sounds
        • Lip smacking
        • Plucking at ones clothing
        • Walking in a non-purposeful manner
        • Deja-vu feelings described
        • Consciousness may be impaired
      • Occipital lobe seizures
        
        • Cause stereotyped visual hallucinations
      • Parietal lobe seizures
        
        • Cause contralateral dysaesthesis (altered sensation) or distorted body image

Question 27

Cerebral Palsy

(Cardinal features)

Answer 27

An umbrella term for a permanent disorder of movement and/or posture and of motor function (usually evident from birth) due to a non-progressive abnormality in the developing brain. Motor disturbances usually accompanied by disturbances of cognition, communication, vision, perception, sensation, behaviour, seizure disorder and secondary musculoskeletal problems

• Has many causes, only 10% follow hypoxic-ischaemic encephalopathy
• Usually presents in infancy with abnormal tone and posture, delayed milestones and feeding difficulties

Cardinal features

Children who have CP are identified as at risk in the neonatal period

• Abnormal limb and/or trunk posture and tone in infancy with delayed motor milestones, may be accompanied by slowing of head growth
• Feeding difficulties, with oromotor incoordination, slow feeding, gagging and vomiting
• Abnormal gait once walking is achieved
• Asymmetrical hand functioning before 12 months of age
• Diagnosis is made by clinical examination, particular attention to posture and the pattern of tone in the limbs and trunk, hand functioning and gait*
• Classification:*
• Spastic (90%)
  
  • Bilateral, unilateral, not otherwise specified
• Dyskinetic (6%)
• Ataxic (4%)
• Other

Question 28

Puberty

(Normal sequence and Timings)

Answer 28

• Boys:
  
  • Ave age 12 years
  • 1st sign 4mls testicular volume (from 2mls)
  • Peak height velocity 10-12mls testicular volume (14 years)
• Girls:
  
  • Ave age 10 years
  • 1st sign breast bud development
  • Peak height velocity breast stage 2-3 (12 years)
  • Menarche occurs breast stage 4 ( 11-13 years)
• Abnormal:
  
  • Early <8 years in girls, < 9 years in boys
  • Late 13 years girls, 14 years boys
• Discordant*

NOT INVOLVED BUT CAN ADD…

• Precocious Puberty-Causes
  
  • Early Puberty?, Progressive?, Concordant?
  • True/Central (Gonadotropin dependant)
    
    • Idiopathic
    • CNS tumour
    • Neurofibromatosis
    • Septo-Optic dysplasia
  • False (Gonadotropin independent)
    
    • Peripheral causes
• Innocent Discordant Puberty
  
  • Premature Thelarche (breast development)
    
    • Temporary activation of FSH-Oestridiol axis
    • Self limiting and innocent
    • Girls aged 6/12-3 years
    • Never more than stage 3
    • No other signs puberty
    • Normal growth and bone age
    • Pre-pubertal Gonadotrophin levels
  • Premature Adrenarche
    
    • Normal increase in adrenal androgen release in mid-childhood (6-8 yrs) with maturation zona reticularis
    • Can produce early pubic hair and small growth spurt
    • Care if pubic hair and/or growth continue or if <6yrs
  • Gy naecomastia
    
    • Normal Puberty
    • Obesity
    • Testicular/Germ cell tumours, Kleinfelters)
• Pathological Discordant early puberty
• (False/Gonadotropin independent precious*
• puberty)*
  
  • Androgen Excess
    
    • Congenital adrenal hyperplasia
    • Cushings disease
    • Adrenal neoplasm
  • Breast Development Only
    
    • Ovarian Hyperstimulation
    • Testicular/Germ cell tumours
  • Testosterone excess
    
    • Tumours
    • Testotoxicosis
• Delayed Puberty- Causes
  
  • Constitutional delay in growth and puberty
  • Hypothalamic/Pituitary Disorders (Hypogonadotrophic
• hypogonadism)*
  * Idiopathic
  * Isolated gonadotropin deficiency (Kallmans)
  * Pituitary hormone def- post radiation, chemo, surgery, tumour
  * Chronic ill health/ Anorexia
  
  • Syndromes – Noonans, Prada-Willi
  • Hypergonadotrophic hypogonadism
    
    • Gonadal dysgenesis – Turners, Kleinfelters, XY gonadal dysgenesis
    • Gonad damage – radiation, chemo, vascular accident
• Pathological Discordant Late Puberty
  
  • Inadequate Breast Development
    
    • Gonadal dysgenesis
    • Poland anomaly
  • Inadequate Pubic Hair
    
    • Androgen Insensitivity
    • Adrenal Failure
  • No Menarche
    
    • Polycystic Ovary Syndrome
    • Absent Ovaries/Uterus
    • Imperforate uterus
    • Pregnancy
  • No growth Spurt
    
    • Hypothalamic-pituitary disorders, Skeletal dysplasia

Question 29

Hypothyroidism

(new-born screening programme)

Answer 29

N_ew-born screening programme_

• Newborn screening aims to detect treatable conditions prior to their clinical presentations and allow early treatment to improve outcome
• It is offered to ALL new-born babies on day 5-7 of life with drops of blood from a heelprick collected onto filter paper
• Conditions tested:
  
  • Cystic fibrosis
  • Congenital hypothyroidism
    
    • It is important in screening as:
      
      • It is common
      • Preventable cause of severe learning difficulties
  • Haemoglobinopathies
  • 6 inborn errors of metabolism

Question 30

Short stature

(plotting growth charts, explanation and assessment of growth, causes)

Answer 30

Plotting growth charts

• The growth failure can be identified from the child’s height falling across the centile lines plotted on a height velocity chart. This allows growth failure to be identified whilst the child’s height is still above the 2nd centile
• Two accurate measurements preferable 1 year apart allow the calculation of height velocity in cm/year
  
  • This is plotted at the midpoint in time on a height velocity chart
  • Disadvantage of these calculations is that they are highly dependent on the accuracy of the height measurements and so tend not to be used outside specialist growth clinics

Explanation

• Is defined as a height below the second centile (i.e. 2SDs below the mean)
• Most will be normal, as they just have short parents
  
  • However, the further the child is below the centiles the more likely it is a pathological cause
• Following growth centile lines for length/height, weight and head circumference
  
  • Consider familial, low birth weight, constitutional delay of growth and puberty, syndromes and skeletal dysplasia’s
• Faltering growth with crossing of centile lines?
  
  • Consider endocrine (including therapeutic corticosteroids), nutrition/chronic illness, psychological deprivation
• There may be problems from being teased or bullied at school, low self-esteem, often considered disadvantaged in most competitive sport. Often adults assume they are younger than their true age

Assessment of growth

• Two accurate measurements preferable 1 year apart allow the calculation of height velocity in cm/year
  
  • This is plotted at the midpoint in time on a height velocity chart
  • Disadvantage of these calculations is that they are highly dependent on the accuracy of the height measurements and so tend not to be used outside specialist growth clinics

Causes

• Familial
  
  • Following growth centile within predicted range for parental height
• Severe intrauterine growth restriction or prematurity
  
  • Short from birth (but normal mid-parental height)
• Constitutional delay in growth and puberty
  
  • Short stature accentuated by delayed puberty, delayed bone age
  • Can get GH treatment by 4 years old
• Chromosomal disorder/syndromes (have dysmorphic features)
  
  • Turner
  • Noonan
  • Down
  • Russel-Silver
• Nutritional/long-term illness (common cause)
  
  • Gastrointestinal (coeliac, Crohn’s disease), chronic kidney disease, cystic fibrosis, congenital heart disease
    
    • Falling off height centiles. Weight centile < height centile. Delayed bone age
• Psychosocial deprivation
  
  • Emotional deprivation/neglect
• Endocrine (falling off height centiles. Weight centile > height centile. Ie short and overweight. Marked delayed bone age)
  
  • Hypothyroidism (usually growth failure and excess weight gain)
  • Growth hormone deficiency
  • Corticosteroid excess, Cushing syndrome, iatrogenic
  • IGF-1 deficiency
• Extreme short stature (rare)
• Disproportion
  
  • Skeletal dysplasia – legs > back
  • Storage disorders – back > legs

Question 31

Iron Deficiency Anaemia

(Causes and Presenting features)

Answer 31

Question 32

ITP

(Presentation)

Answer 32

• Most common cause of thrombocytopenia in children.
• Immune destruction of platelets by autoantibodies*
• Presentation*
• Usually presents in children aged 2-10
• Often 1-2 weeks after viral infection
• Petechiae, purpura, superficial bruising
• Epistaxis
• Uncommon to get profuse bleeding
• Diagnosis of exclusion – rule out more sinister causes*
• Acute leukaemia, Aplastic Anaemia*
• Organomegaly
• Lymphadenopathy
• Anaemia or neutropenia

Investigations

• Full Blood Count – low platelets
• Blood Film
• (Bone Marrow Biopsy)

Treatment

• Observation. Self-resolves in 6-8 weeks.
• May need steroids or IV Ig

Question 33

Henoch Schonlein purpura

(presentation)

Answer 33

Presentation:

• Non-Blanching rash (100%)
• Buttocks
• Extensor surfaces of legs/arms
• Painful, swollen joints (60-80%)
• Abdominal pain (80%)
• Haematuria (20-60%)

Question 34

Eczema

(Clinical Features and Management)

Answer 34

Eczema can either be atopic (where there is evidence of IgE antibodies to common allergens) or non-atopic

• Atopic eczema
  
  • Classified as an allergic disease as many affected children have family history of allergy, at least 50% develop allergic diseases and IgE antibodies to common allergens.
• Filaggrin gene mutations have been identified as the key genetic risk factor for eczema development due to impairment of skin barrier function, which then leads to cutaneous sensitisation to inhalant and food allergens
  
  • Meaning that this gene mutation predisposes to food allergy, asthma and hay fever as well as asthma
• Screening by skin prick or IgE blood testing should be considered

Clinical features

• Rashes may itch (pruritus) -> main symptom at all ages and this results in scratching and exacerbation of the rash
• Excoriated areas become erythematous, weeping and crusted
• Distribution of the eruption tends to change with age
  
  • Infants
    
    • Face and scalp predominately affected
  • Older children
    
    • Skin flexures (cubital and popliteal fossae)
    • Frictional areas (e.g. neck, wrists and ankles)

Management

• Avoiding irritants and precipitants
  
  • Avoid soap and biological detergents
  • Clothing next to skin should be pure cotton (AVOID nylon and pure woollen garments)
  • Nails cut short to REDUCE scratching
  • Allergens avoided
• Emollients
  
  • Moistening and softening the skin
  • Applied literately 2 or more times a day and after a bath
  • Ointments preferable to creams when skin is very dry
• Topical corticosteroids
  
  • Used with care
  • Applied to areas 1 or 2 times a day (kept to a minimum)
  • Applied thinly and on face AVOIDED
  • Excessive use can cause thinning of skin as well as systemic side effects
• Immunomodulators
  
  • Tacrolimus ointment
• Occlusive bandages
  
  • Helpful over limbs when scratching is a problem
  • Worn overnight and can be used in the day
• Antibiotics, antiviral agents and antihistamines
  
  • Antibiotics with hydrocortisone can be applied topically
  • Systemic antibiotics used when more widespread bacterial infection
  • Itch suppression with oral antihistamines
• Dietary elimination
  
  • Most common food allergens are egg and cow’s milk
  • Dietary elimination should be carried out with a dietician advice
• Psychosocial support
  
  • Parents and child need advice, help and support from other health professionals.
  • Eczema society provides support and education about the disorder

Question 35

Heal prick and capillary gas(*)

(principles and interpretation(**))

Answer 35

Capillary blood sampling

• Is used when small volumes of blood are necessary for analysis e.g. FBC, blood gas and blood glucose.
• Usually a procedure best suited to neonatal feet but can be used in older children e.g. fingers if venepuncture not possible
• Plantar heal surface outside the medial and lateral limits of the calcaneus bone in the young infant
  
  • Finger or toe of older child
• Procedure:

1. Warm the site to encourage vasodilation and good perfusion
2. Hold foot dorsiflexed
3. Clean with alcohol swab
4. Gently massage the area and occlude blood supply using tourniquet
5. Apply a tiny amount of soft white paraffin -> encourages drop formation
6. Puncture skin and collect drops of blood in sample containers
7. Avoid excess squeezing as falsely cause high K+ levels and haematocrit and bruising
8. Stop excess bleeding with gauze

Interpretation

Heal prick test

• Newborn heal prick screening involves taking a blood sample to find out if your baby has 1 of 9 rare but serious health conditions.
• Most babies won’t have any of these conditions but, for the few who do, the benefits of screening are enormous.
• Early treatment can improve their health, and prevent severe disability or even death.
• When your baby is 5 days old, a healthcare professional will prick their heel and collect 4 drops of blood on a special card.
• You can ease any distress for your baby by cuddling and feeding them, and making sure they’re warm and comfortable.
• Occasionally, the sample may need to be taken when your baby is 6, 7 or 8 days old.
• Conditions it tests for:
  
  1. Sickle cell disease
  2. Cystic fibrosis -> measure immunoreactive trypsinogen
  3. Congenital hypothyroidism -> measure TSH
     
     • Can lead to impaired growth and mental development
  4. Phenylketonuria
     
     • Body is unable to break down a substance called phenylalanine -> builds up in brain and blood
  5. Medium-chain acyl-Co-A dehydrogenase deficiency
     
     • Fat cannot be broken down as usual
  6. Homocystinuria (HCU)
  7. Maple syrup urine disease (MSUD)
  8. Glutaric aciduria type 1 (GA1)
  9. Isovaleric acidaemia (IVA)

Principles of Newborn bloodspot screening

The principles of screening include the following:

• Each condition is a serious disorder.
• The condition occurs with sufficient frequency for screening to be cost-effective.
• A cheap reliable screening test is available.
• Early treatment/intervention is beneficial
• Consequences of non-treatment may be severe.

Question 36

Lumbar puncture (principles and interpretation)

Answer 36

Principles

• To obtain cerebrospinal fluid (CSF)sample for laboratory analysis of for therapeutic CSF drainage in communicating hydrocephalus
• L3-L4 intervertebral space
• Contraindications:
  
  1. Thrombocytopaenia
  2. Coagulation defect
  3. Raised intracranial pressure
  4. Significant cardiorespiratory compromise (as position may risk in cardiorespiratory arrest
  5. Local skin infection
• Procedure:

1. Place child on their side with back along a firm surface
2. Someone experienced hold child
3. Locate L4 spinous process
4. Using a strict antiseptic technique clean area
   
   1. Inject local anaesthetic if >6months
5. Slowly advance needle until the “give” as the dura is penetrated
6. Remove stylet and wait for CSF to drain
   
   1. If not fluid coming out advance slowly and withdraw stylet slowly till CSF fluid drains
7. Allow 3-5 drops of CSF to drain into each bottle
8. To measure CSF pressure attach 3 way-tap before collecting samples and direct fluid into manometer.
9. If CSF drainage -> drain as much CSF as required
10. Remove needle and apply sterile gauze swab with pressure
11. Cover site with adhesive plaster or aerosol dressing

Interpretation

• CSF composition: (normal values)
  
  1. Lymphocytes <5/mm^3
  2. No polymorphs
  3. Protein <0.4g/L
  4. Glucose >2.2mmol/L
  5. Pressure <200mm
• Subarachnoid haemorrhage
  
  1. Xanthochromia (yellow supernatant on spun CSF)
• Raised protein: Meningitis, MS, Guillain-Barre syndrome
• Very raised CSF protein: Spinal block OR severe bacterial meningitis
• CSF in meningitis:
  
  1. Bacterial
     
     • Often turbid
     • Polymorphs
     • Cell count 90-1000 or more
     • <1/2 plasma glucose
     • Protein >1.5
     • Bacteria in smear & culture
  2. Tuberculous
     
     • Appearance: often fibrin web
     • Mononuclear cells
     • Cell count 10-1000
     • <1/2 plasma glucose
     • 1-5g/L protein
     • Bacteria often NONE on smear
  3. Viral
     
     • Appearance: usually clear
     • Mononuclear cells
     • Cell count 50-1000
     • >1/2 plasma glucose
     • <1g/L protein
     • Bacteria often NONE seen or culture

Question 37

Height

(measure plot, interpret and explain)

Question 38

Weight

(measure plot, interpret and explain)

Question 39

Head circumferences (measure plot, interpret and explain)

Question 40

Nappy change (demonstrate)

Question 41

HR, RR, BP, temperature, O2 sats, capillary refill time (measure, interpret and explain)

Question 42

Urinalysis

(interpret and explain to parent/patient)

Question 43

Urine M, C&S

(interpret and explain to parent/patient)

Answer 43

Urine Microscoppy

Urine Culture and sensitivity test