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Paediatrics Pt. 3 Flashcards

1
Q

What is Trisomy 21?

A
  • Third extra non-sex (autosomal) chromosome 21. Normally homologous pair
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2
Q

What is the aetiology of trisomy 21?

A
  • Non-dysjunction at meiosis (95%): Extra maternal chromosome: karyotype 47XX + 21 or 47XY + 21. Increased incidence of trisomy 21 2 to non-dysjunction with increasing maternal age, especially >35 years and is independent of paternal age.
  • Robertsonian translocation (4%): Chromosome 21 usually translocated onto chromosome 14.
  • Mosaicism (1%): Some cells normal, some trisomy 21 due to non-dysjunction during mitosis after fertilisation; usually less severely affected.
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3
Q

What is the epidemiology of trisomy 21?

A
  • 1/700 live births. Most common genetic cause of learning difficulties. Second affected child is 1/200 if >35 and double the age-specific rate if <35
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4
Q

What are signs and symptoms of trisomy 21?

A
  • Most cases of Down syndrome are now diagnosed
    antenatally (see Investigations).
  • General: Neonatal hypotonia, short stature.
  • Developmental: Mild–moderate learning disability (IQ 25–70, with social skills exceeding other intellectual functions).
  • Craniofacial: Microcephaly, brachycephaly (shortness of skull), round face, epicanthic folds, upward sloping palpebral fissures, protruding tongue, flat nasal bridge, small ears, excess skin at back of neck, atlantoaxial instability.
  • Eyes: Strabismus, nystagmus, Brushfield spots in iris, cataracts.
  • Limbs: Fifth finger clinodactyly, single palmar crease, wide gap between first and second
    toes, hyperflexible joints in infants.
  • CVS: Murmurs dependent on congenital heart disease, arrhythmias, signs of heart failure.
  • GI: Constipation.
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5
Q

What are the investigations for trisomy 21?

A
  • Antenatal screening: Maternal age combined with the ‘triple test’ at 19/40 on maternal
    serum: AFP (decreased), unconjugated oestriol (decreased) and b-hCG (decreased).
  • Confirmation of diagnosis: amniocentesis or chorionic villus sampling, postnatal chromosomal analysis.
  • Screening for complications: Echocardiography, TFTs, hearing and vision tests.
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6
Q

What is the management of trisomy 21?

A
  • Multidisciplinary approach: Parental education and support, genetic counselling, IQ testing with appropriate educational input.
  • Medical: Antibiotics in recurrent respiratory infections, thyroid hormone for hypothyroidism.
  • Surgical: Congenital heart defects, oesophageal/duodenal atresia.
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7
Q

What are the complications of trisomy 21?

A
  • Decreased fertility. 15 x increased risk of leukaemia; transient myeloproliferative disorder and AML (mutations in the haematopoietic transcription factor
    gene, GATA1).
  • Increased incidence of Alzheimer’s disease by 40 years (amyloid protein coding gene located on chromosome 21).
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8
Q

What is the prognosis of trisomy 21?

A
  • Antenatal: 75% of trisomy 21 spontaneously abort.
  • Childhood: 15–20% of Down syndrome children die <5 years, usually due to severe congenital heart disease.
  • Adulthood: 50% survive longer than 50 years but undergo premature ageing.
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9
Q

What is Edwards syndrome?

A
  • Trisomy 18
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10
Q

What is the epidemiology of Edwards syndrome?

A
  • 1 in 8000
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11
Q

What are the clinical features of Edwards syndrome?

A
  • Low birthweight
  • Small mouth and chin
  • Flexed, overlapping fingers
  • ‘Rocker-bottom’ feet
  • Cardiac and renal malformations
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12
Q

How is Edwards syndrome diagnosed?

A
  • Detected by ultrasound scan during second trimester of pregnancy
  • Confirmed by amniocentesis and chromosome analysis
  • Can also be diagnosed on non-invasive prenatal testing (NIPT)
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13
Q

What is Patau syndrome?

A
  • Trisomy 13
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14
Q

What is the epidemiology of Patau syndrome?

A
  • 1 in 14000
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15
Q

What are the clinical features of Patau syndrome?

A
  • Structural defect of brain
  • Scalp defects
  • Small eyes (micropthalmia) and other eye defects
  • Cleft lip and palate
  • Polydactyly
  • Cardiac and renal malformations
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16
Q

How is Patau syndrome diagnosed?

A
  • Ultrasound scan during second trimester of pregnancy
  • Confirmed by amniocentesis and chromosome analysis
  • Can also be diagnosed on non-invasive prenatal testing (NIPT)
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17
Q

What is the prognosis of Edwards and Patau syndrome?

A
  • Most babies die in infancy
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18
Q

What is Klinefelter syndrome?

A
  • Chromosome 47, XXY
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19
Q

What is the epidemiology of Klinefelter syndrome?

A
  • 1-2 per 1000 live-born males
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20
Q

What are the clinical features of Klinefelter syndrome?

A
  • Infertility- most common presentation
  • Hypogonadism with small testes
  • Pubertal development may appear normal (some males benefit from testosterone therapy)
  • Gynaecomastia in adolescence
  • Tall stature
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21
Q

How is Klinefelter syndrome diagnosed?

A
  • Chromosome analysis
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22
Q

What is Turner syndrome?

A
  • 45, X
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23
Q

What is the epidemiology of Turner syndrome?

A
  • 1 in 2500 live-born females
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24
Q

What are the clinical features of Turner syndrome?

A
  • Lymphoedema of hands and feet in neonate, which may persist
  • Spoon-shaped nails
  • Short stature- a cardinal feature
  • Neck webbing or thick neck
  • Congenital heart defects (particularly coarctation of the aorta
  • Ovarian dysgenesis resulting in infertility, although pregnancy may be possible with IVF using donated ova
  • Hypothyroidism
  • Renal anomalies
  • Recurrent otitis media
  • Normal intellectual function in most cases
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25
Q

How is Turner syndrome detected?

A
  • Antenatal ultrasound

- Fetal oedema of neck, hands or feet or a cystic hygroma may be identified

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26
Q

How is Turner syndrome managed?

A
  • Growth hormone therapy
  • Oestrogen replacement for development of secondary sexual characteristics at the same time of puberty (but infertility persists)
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27
Q

What are the clinical features of Prader-Willi syndrome?

A
  • Character face
  • Hypotonia
  • Neonatal feeding difficulties
  • Faltering growth in infancy
  • Obesity in later childhood
  • Hypogonadism
  • Developmental delay
  • Learning difficulties
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28
Q

What are the clinical features of Noonan syndrome?

A
  • Characteristic facies
  • Occasional mild learning difficulties
  • Short webbed necke with trident hair line
  • Pectus excavatum
  • Short stature
  • Congenital heart disease (especially pulmonary stenosis, atrial septal defect)
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29
Q

What is congenital adrenal hyperplasia?

A
  • Inherited disorder of adrenal steroidogenesis
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30
Q

What is the aetiology of congenital adrenal hyperplasia?

A
  • Autosomal recessive genetic defect in the cytochrome P450 (CYP) protein enzymes involved with adrenal steroidogenesis
  • Resultant decreased levels of cortisol +/- aldosterone and increased levels of precursor adrenocortical hormones cause symptoms (e.g. increased deoxycorticosterone leads to sodium retention/HT at supraphysiological levels)
  • Phenotypical variance: Occult (clinically asymptomatic disease), non-classic (adolescence/adulthood mild form) and classic (severe infantile adrenal insufficiency +/- salt wasting and virilisation). 21-hydroxylase deficiency: Salt wasting/simple virilising/non-classic
  • Enzyme deficiency: 21-hydroxylase (90%), 11b-hydroxylase deficiency (5%) and 17a-hydroxylase deficiency (5%).
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31
Q

What is the epidemiology of CAH?

A
  • 1/10,000 (21-hydroxylase deficiency), 1/100,000 (11b-hydroxylase and 17a-hydroxylase deficiency).
  • Racial predilection; increased with Ashkenzai Jews and Yupik of Alaska.
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32
Q

What are signs and symptoms of CAH?

A
  • Male classic: Salt-losing crisis; occurs with severe 21-hydroxylase deficiency. Males present <1/12 old as genitalia are normal therefore diagnosis delayed. 2 to decreased aldosterone.
    Symptoms: failure to thrive, recurrent vomiting, sweating, dehydration, hyponatraemia,
    hyperkalaemia, hypotension and coma rapidly followed by death
  • Male non-classic: Early development of 2 characteristics (pubic hair and phallic enlargement) and accelerated growth and “skeletal maturation”
  • Female classic: Ambiguous genitalia; clitoromegaly, fused labia at birth.
  • Female non-classic: Virilisation: acne, hirsutism, accelerated growth, “skeletal maturation.
  • 17a-hydroxylase deficiency: increased 11-deoxycorticosterone (mineralocorticoid), decreased androgens causing HT and decreased Na+, increased K+. Males present with ambiguous or female genitalia, females with absence of 2 characteristics at puberty.
  • May present as a salt-losing crisis in a neonate. When older, develop HT +/- decreased K+ as increased mineralocorticoid sensitivity with age
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33
Q

What are the investigations for CAH?

A
  • Bloods: 17-hydroxyprogesterone (increased in 21-hydroxylase deficiency and 11b-hydroxylase deficiency), testosterone, increased basal ACTH, LH, FSH, U&E.
  • ACTH stimulation test: Inappropriately elevated 17-hydroxyprogesterone levels after
    IM ACTH.
  • Pelvic ultrasound: Presence of uterus/polycystic ovary syndrome/renal anomaly.
  • Karyotyping and molecular genetics: Mutation location and chromosomal sex
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34
Q

What is the management of CAH?

A
  • Acute salt-losing crisis: IV 0.9% NaCl (20 ml/kg) over first hour and repeated as necessary, dextrose and hydrocortisone, monitor for hypoglycaemia.
  • Medical: Glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) replacement. NaCl supplementation PRN. Doses of steroids should be increased when unwell. Prednisolone +/- dexamethasone can also be used.
  • Surgical: Ambiguous genitalia. With female patient, possible clitoral regression followed by vaginoplasty after birth.
  • Counselling: Genetic with antenatal screening. Psychological counselling for parents and child.
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35
Q

What are the complications of CAH?

A
  • Decreased Female fertility.
  • Male development of adrenal rests/tissue in the testicles.
  • Short stature (premature epiphyseal closure 2 to steroid therapy).
  • Steroid side effects
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36
Q

What is the prognosis of CAH?

A
  • Good if diagnosed early.

- Undiagnosed infants may die from salt-losing crises (diagnosed as pyloric stenosis/gastroenteritis)

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37
Q

What is constipation?

A
  • A delay or difficulty in defaecation, present for >2/52 and sufficient to cause significant distress
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38
Q

What is the aetiology of constipation?

A
  • Functional: 90–95% of cases; idiopathic as nil underlying medical condition 2 to vicious cycle of pain on defaecation and retention.
  • Slow transit constipation (STC): Causes intractable symptoms and normally refractory to
    medical management.
  • Nutritional: Cow’s milk protein allergy, inadequate fluid intake, malnutrition, high refined carbohydrate and protein diet or a low-fibre diet.
  • Organic (rare): Gastrointestinal anomalies; Hirschsprung’s disease, anorectal stenotic
    lesions, anal fissures. Spinal/neuromuscular disease. Hypothyroidism.
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39
Q

What is the epidemiology of constipation?

A
  • Extremely common; 3–5% of outpatient consultations and 35% of gastroenterology consultations.
  • Peak incidence 2–4 years of age.
  • M : F (prepuberty), F>M (postpuberty)
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40
Q

What are symptoms of constipation?

A
  • Detailed history including diet and social setting, onset of constipation.
  • Passage of meconium >24 hours at birth –> Hirschsprung’s disease.
  • Infants have a wide normal range of stool frequency, depending on type of milk (breastfeeding/formula) and amount of solids
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41
Q

What are signs of constipation?

A
  • General:
    • Abdominal distension
    • Palpable stools
    • Presence of sacral dimples/pits.
  • Digital rectal examination: Anus position on perineum, presence of fissures/fistulae/stool/mass, anal wink and sensation, size of anal canal/rectum.
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42
Q

What are the investigations for constipation?

A
  • Radiology: AXR is not helpful in the initial assessment.
  • Anorectal manometry: Delineating child’s defaecation dynamics, evidence of megarectum, exclusion of ultra-short segment Hirschsprung’s disease.
  • Radionuclear transit scintography: Identifies slow colonic transit. May also be done with plain AXR after ingestion of different shaped markers
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43
Q

What is the management of constipation?

A
  • Exclude red flag symptoms
  • Reassure that underlying causes of constipation have been excluded
  • Laxatives - may have to be taken for several months
  • Check for faecal impaction - if present, recommend disimpaction regimen
  • Start maintenance laxative treatment if impaction is not present/has been treated
  • Advice behavioural interventions (scheduled toileting, bowel habit diary, reward system)
  • Diet and lifestyle advice (adequate fluid intake)
  • Follow up to assess adherence and response to treatment
  • Read Laz Notes
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44
Q

What are complications of constipation?

A
  • Faecal overload
  • Overflow incontinence
  • Encopresis
  • Secondary emotional and behavioural difficulties
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45
Q

What is the prognosis of constipation?

A
  • 50% recover within 1 year and 65–70% recover within 2 years; the remainder require regular laxative therapy +/- have encopresis.
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46
Q

What is Croup? (Acute laryngotracheobronchitis)

A
  • Progressive spread of inflammation down the respiratory tract starting at the larynx, followed by trachea and bronchi 2 to a viral infection.
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47
Q

What is the aetiology of Croup?

A
  • Parainfluenza virus is the most common cause

- Other viruses can produce a similar picture, such as RSV, influenza, rhinoviruses.

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48
Q

What is the epidemiology of Croup?

A
  • Children from 6 months to 5 years old.

- Occurs in the winter months and children may have repeated episodes

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49
Q

What are the symptoms of Croup?

A
  • Coryza: Symptoms preceded by 1–3 days of coryza + /- fever.
  • Laryngitis: Barking, croupy cough and hoarse voice.
  • Tracheitis: Onset of stridor (seal-like yelp) 1–2 days after cough.
  • Bronchitis: Increased respiratory effort as infection spreads down bronchial tree.
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50
Q

What are the signs of Croup?

A

Signs from 0 - 3

  • Stridor: None, When agitated, At rest, Severe, Inspiratory/Expiratory
  • Recession: None, Mild subcostal, Moderate/tracheal tug, Severe with marked use of accessory muscles
  • Colour: Normal, Normal, Dusky, Central cyanosis
  • Level of consciousness: Normal, Restless when disturbed, Anxious when agitated, Lethargy when drowsy
  • Mild <= 3 signs, moderate 4-5 signs, severe >5 signs
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51
Q

What are the investigations for croup?

A
  • Croup is clinical diagnosis so bloods are seldom done
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52
Q

What is the management of croup?

A
  • If hospital admission is NOT required:
    • Single dose of oral dexamethasone (0.15 mg/kg) to be taken immediately
  • ADVICE
    • Resolves after 48 hours
    • Seek medical attention if stridor continues, skin between the ribs is pulling in, if the child is restless or agitated
    • Call an ambulance if very pale, blue or grey for more than a few seconds, unusually sleepy or unresponsive, having a lot of trouble breathing or generally unwell
    • Paracetamol or ibuprofen for fever and distress
    • Advise good fluid intake
    • Advise parents to check the child regularly during the night
  • Croup causing chest recession at rest:
    • Oral dexamethasone OR oral prednisolone OR nebulised steroids (budesonide)
    • These will reduce the severity and duration of croup and reduce the need for hospitalisation
  • SEVERE upper airways obstruction:
    • Nebulised adrenaline with oxygen by face mask
    • Causes rapid but transient improvement
    • Children should be closely monitored
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53
Q

What are complications of croup?

A
  • Upper airway obstruction may be fatal
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54
Q

What is the prognosis of croup?

A
  • Duration usually 2–3 days
  • Occasionally 2–3 weeks
  • 2–5% of children hospitalised for croup require intubation
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55
Q

What is cystic fibrosis?

A
  • AR condition characterised by
    • Recurrent lung infections
    • Malabsorption
    • Failure to thrive
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56
Q

What is the aetiology of cystic fibrosis?

A
  • Common genotype (70-80%): Phenylalanine deletion at position F508 results in defective chromosome at 7q.
  • There are >= 900 mutations of this gene
  • Defective gene codes for abnormal CFTR in the cell membrane
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57
Q

What is the epidemiology of cystic fibrosis?

A
  • 1/2500 live births

- 1/25 carrier rate in Caucasians

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58
Q

What are presenting symptoms of cystic fibrosis?

A
  • Neonatal: Meconium ileus (bowel obstruction by thick meconium)
  • Infancy: recurrent chest infections, steatorrhea, failure to thrive, developmental delay
  • Older children: Asthma, allergy bronchopulmonary aspergillosis (episodic wheeze, low grade fever, brown sputum), recurrent sinusitis
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59
Q

What are signs of cystic fibrosis?

A
  • Signs of malnutrition: decreased Muscle mass, protuberant abdomen.
  • Respiratory: Hyperinflation (air trapping), coarse crepitations, expiratory rhonchi.
  • Others: Jaundice, early digital clubbing, nasal polyps, rectal prolapse.
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60
Q

What are investigations for cystic fibrosis?

A
  • Sweat test (gold standard): Sweat Cl of >50 mmol/L and Na of >60 mmol/L by pilocarpine iontophoresis, weight of sweat >100 mg on 2 occasions.
  • Lung function: Obstructive picture with air trapping and hyperinflation (decreased FEV1 and increased TLC)
  • Guthrie’s test: increased Serum immunoreactive trypsin (all UK newborns are now screened).
  • Antenatal tests: First trimester CVS (95% sensitivity). Second trimester decreased intestinal ALP in amniotic fluid (90% sensitivity).
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61
Q

What is the general management of cystic fibrosis?

A
  • Patients should have annual review of their condition AND at least one other review per year by the specialist cystic fibrosis MDT, in addition to reviews by local paediatric teams
  • Members of the MDT (all should be specialists in CF):
    • Paediatrician
    • Nurses
    • Physiotherapists
    • Dieticians
    • Pharmacists
    • Clinical psychologists
    • Social worker (provide support for people with CF and their families regarding employment, education, help adjusting to the condition, benefits, respite care)
  • Respiratory Management
  • Infection Management
  • Nutritional Management
  • Psychological Management
  • Teenage and Adults Management
  • Recent developments
    • The development of CFTR potentiators (ivacaftor) and CFTR correctors (Lumicaftor) have potential to improve outcomes in CF
    • Potentiators helps restore function of CFTR in class III and class IV mutations
    • Correctors partially restore CFTR number in class II defects
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62
Q

What is the respiratory management of cystic fibrosis?

A
  • Pulmonary Monitoring
    • Review CHILDREN every 8 weeks
    • Review ADULTS every 3 months
    • At each review:
      • Perform a clinical assessment (including history, physical examination and exploration of medication adherence)
    • Measure SpO2
    • Take respiratory secretion samples for investigation
    • Spirometry
  • Airway clearance techniques
    • Offer training for parents and carers (involve physiotherapist)
    • These techniques should be done at least twice per day
    • Regularly assess effectiveness and technique
    • Consider non-invasive ventilation in patients who are unable to sufficiently clear their airways using conventional techniques
  • Mucoactive agents
    • Offer in patients with CF who have clinical evidence of lung disease
    • First-line: rhDNase
    • If clinical response with rhDNase is inadequate, consider BOTH rhDNase AND hypertonic saline
    • Consider mannitol dry powder inhalation for children who cannot use the above agents
  • New Agents
    • Lumacaftor and Ivacaftor are new agents known as potentiators and correctors that may be effective in treating CF caused by the F508 mutation
  • Regular exercise is beneficial and should be encouraged
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63
Q

What is the infection management of cystic fibrosis?

A
  • Common infections in CF patients
    • Staphylococcus aureus
    • Pseudomonas aeruginosa
    • Burkholderia cepacia complex
    • Haemophilus influenzae
    • Non-tuberculous mycobacteria
    • Aspergillus fumigatus
  • Prophylactic antibiotics (usually flucloxacillin) and additional oral antibiotics for any increase in symptoms or lung decline
  • Persistent symptoms require prompt and vigorous IV therapy to limit lung damage, usually given for 14 days via a PIC line
  • Chronic Pseudomonas infection is associated with a more rapid decline in lung function
    • This can be slowed by the use of daily nebulised anti-pseudomonal antibiotics
  • Regular azithromycin (macrolide) decreases respiratory exacerbations, probably due to an immunomodulatory effect
  • Bilateral sequential lung transplantation is the only therapeutic option for end-stage CF lung disease
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64
Q

What is the nutritional management of cystic fibrosis?

A
  • Oral enteric-coated pancreatic replacement therapy (with meals and snacks to account for pancreatic insufficiency)
  • High-calorie diet (recommended intake is 150% of normal)- overnight feeding via a gastrostomy may be used
  • Need fat-soluble vitamin supplements
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65
Q

What is the psychological management of cystic fibrosis?

A
  • Review the mental health and wellbeing of the patient and their family members
  • Support: Cystic Fibrosis Trust
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66
Q

What is the teenage and adult management of cystic fibrosis?

A
  • As the life expectancy of CF has increased, other complications have come to the forefront
  • Diabetes mellitus is increasingly common due to decreasing pancreatic endocrine function
  • About 1/3 of adolescent patients will have evidence of liver disease, with hepatomegaly on liver palpation, abnormal LFTs or an abnormal ultrasound
  • Regular ursodeoxycholic acid to improve flow of bile may be useful
  • RARELY, the liver disease could progress to cirrhosis, portal hypertension and liver failure
  • Liver transplant may be necessary
  • Distal Intestinal Obstruction Syndrome
    • Viscid mucofaeculent material obstructs the bowel
    • Usually cleared by a combination of oral laxatives
  • As the disease progresses in adolescents and adults, there may be an increase in chest infections, as well as complications such as pneumothorax and life-threatening haemoptysis
  • Females have normal fertility and should be able to tolerate pregnancy well
  • Males are virtually always infertile but can father children through intracytoplasmic sperm injection
  • The psychological impact of this disease is immense, so the CF team should provide emotional and psychological support
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67
Q

What are complications of cystic fibrosis?

A
  • Respiratory: Bronchiectasis, cor pulmonale, pneumothorax, haemoptysis.
  • GI: Cirrhosis, portal hypertension, distal intestinal obstruction syndrome; viscid mucofaeculent material obstructs the bowel.
  • Endocrine: DM, decreased fertility. 99% of males are infertile due to obstruction and abnormal development of vas deferens. Females are often subfertile but there have been many successful pregnancies
  • Psychological/behavioural problems: Due to compromised lifestyle and morbidity
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68
Q

What is the prognosis of cystic fibrosis?

A
  • Median survival 40 years.

- Children with Pseudomonas colonization have a 2–3-fold increased mortality over 8 years

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69
Q

What is global developmental delay?

A
  • A significant delay (>2 SD) in >2 areas of development (motor, speech/language, cognition, social/personal, and activities of daily living) in child <5 years of age.
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70
Q

What is the aetiology of global developmental delay?

A
  • In many cases no cause is found. A review of 261 GDD children <5 years identified a cause in 38%:
    1. Intrapartum asphyxia (22%)
    2. Cerebral dysgenesis (16%)
    3. Chromosome abnormalities (13%): Down, fragile X syndrome
    4. Genetic syndromes (11%): tuberous sclerosis, Angelman/Prader-Willi syndrome
    5. Psychosocial deprivation (11%)
    6. Term periventricular leucomalacia (9%)
    7. Fetal alcohol syndrome (6%).
  • Other causes: Metabolic (congenital hypothyroidism, phenylketonuria), traumatic brain injury, lead poisoning, congenital infections (rubella, CMV), child abuse.
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71
Q

What are features in the history of global developmental delay?

A
  • Consanguinity
  • Antenatal and birth history
  • Maternal alcohol/substance abuse in pregnancy,
  • Family history of development delay/chromosomal abnormality,
  • Social history.
  • Assess whether child has developmental delay, arrest or regression
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72
Q

What are signs of global developmental delay?

A
  • Growth parameters (head circumference), physical/neurological examination, developmental assessment (schedule of growing skills, Bailey or Griffith scales).
  • Fragile X: Large ears, narrow facies, strabismus, macro-orchidism, gaze aversion.
  • Tuberous sclerosis: Ash leaf macules (depigmentation), adenoma sebaceum (facial
    angiofibromas) , shagreen patch over the sacrum/back.
  • Angelman syndrome: Strabismus, hypopigmented skin and eyes, prominent mandible, wide mouth, wide-spaced teeth.
  • Prader-Willi syndrome: Obesity, almond-shaped eyes, narrow forehead, down-turned mouth, small hands and feet.
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73
Q

What are investigations for global developmental delay?

A
  • Diagnostic
    1. Chromosomal analysis and fragile X screening
  1. TFTs (hypothyroid now rare since neonatal screening)
  2. Neuroimaging: especially in children with microcephaly (congenital infection, metabolic disorders) or macrocephaly (fragile X, hydrocephaly)
  3. Metabolic testing: especially if developmental regression; plasma and urinary amino and organic acids, acid/base, plasma VLCFA, lyzosomal enzyme analysis, ammonia
  4. EEG: seizure activity or developmental regression (epileptic encephalopathy, Rett syndrome)
    - Co-morbidities: Echocardiogram, spinal X-ray.
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74
Q

What is the management of global development delay?

A
  • Multidisciplinary team approach: Co-ordinated by a community paediatrician.
  • Educational input: Mainstream school/SENCO or special needs school
  • Assessment of vision and hearing:
    • Therapist input: SALT, physiotherapy, occupational therapy.
    • Orthopaedic referral: Scoliosis or muscle spasticity/contractures.
    • Treatment of co-morbidity: Physical and mental health problems.
    • Genetic counselling: Screening in future pregnancies
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75
Q

What are complications of global developmental delay?

A
  • Depends on the aetiology.

- Psychological/emotional: may result in aggressive or self-injurious behaviour

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76
Q

What is the prognosis of global developmental delay?

A
  • Varies with the degree of learning impairment.
  • Early input of resources can encourage child to attain milestones with the appropriate support and learning environment.
  • Most children with GDD are dependent on parents/carers for support in activities of daily living.
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77
Q

What is developmental dysplasia of the hip?

A
  • Abnormal growth of the hip resulting in dislocation or instability
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78
Q

What is the aetiology of developmental dysplasia of the hip?

A
  • Multifactorial;
  • Racial association
  • Intrauterine positioning
  • Gender
  • Ligamentous laxity.
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79
Q

What is the epidemiology of developmental dysplasia of the hip?

A
  • 1–2/1000; M : F = 1 : 4. Caucasians > Asians
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80
Q

What features in the history of DDH?

A
  • Family history

- Any risk factors

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81
Q

What are the examinations for DDH?

A
  • DDH examined for routinely in newborn checks. With a relaxed child, the hip and knee are flexed to 90, examiner’s thumbs placed on the medial proximal thigh, and long fingers placed over the greater trochanter
  • Ortolani manoeuvre: Contralateral hip is held still while the thigh of the hip being tested is abducted and gently pulled anteriorly. With a þve Ortolani test, the femoral head glides over the ridge of pathological hypertrophic acetabular cartilage into the acetabulum. A palpable clunk occurs with the reduction. Therefore manoeuvre relocates a dislocated hip
  • Barlow manoeuvre: The hip is adducted while pushing the thigh posteriorly. With a +ve
    Barlow test, the femoral head is dislocated posteriorly from the acetabulum. Dislocation is confirmed by performing the Ortolani manoeuvre to relocate the hip. Therefore manoeuvre dislocates an unstable hip.
  • Other physical signs: Decreased abduction on the affected side, standing or walking with external
    rotation, and asymmetry; leg positions, leg length, gluteal thigh or labral skin folds.
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82
Q

What are investigations for DDH?

A
  • USS hip: Reveals relationship between femoral head and acetabulum, existence of any acetabular dysplasia. High false +ve rate in infants <6 weeks.
  • X-ray hip: >4 months (2 views: adduction and abduction).
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83
Q

What is the management of DDH?

A
  • Supportive: Pavlik harness abduction splints until age 5–6 months. USS monitoring.
  • Surgical correction: Late diagnosis (>6 months): preoperative traction (2–3 weeks) then closed reduction (arthrography guided). Surgical release of the hip adductor longus and iliopsoas muscles may be required. >18 months: open reduction with femoral þ / pelvic osteotomy may be required to correct severe deformities.
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84
Q

What are complications of DDH?

A
  • Iatrogenic: Skin irritation from reduction devices, 1–5% incidence of avascular necrosis of the femoral head with Pavlik harness splinting.
  • Long-term: Osteoarthritis of hip.
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85
Q

What is the prognosis of DDH?

A
  • Pavlik harness has good results <6/12. Increased age at diagnosis = worse outcome.
  • Untreated, can be severely disabling.
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86
Q

What is diabetes (type 1)?

A
  • Chronic metabolic disorder characterised by hyperglycaemia secondary to an absolute or relative deficiency of insulin secretion.
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87
Q

What is the aetiology of diabetes (type 1)?

A
  • Insulin production in the pancreas by the b-cell of the islets of Langerhans is disrupted by their absence or destruction. There is a strong genetic influence (50%
    concordance in monozygotic twins).
  • Autoimmune: 85% of patients have circulating islet cell antibodies; majority directed against glutamic acid decarboxylase (GAD) within pancreatic b-cells.
  • Environmental: Viral infections initiate or modify the autoimmune process (mumps, rubella, coxsackie B4, increased with cow’s milk protein exposure in infancy, increased with late vitamin D supplementation
  • Non-type 1 paediatric diabetes: Neonatal diabetes (transient/permanent), maturity-onset diabetes of youth (MODY), obesity-associated paediatric type 2.
88
Q

What is the epidemiology of diabetes (type 1)?

A
  • Increasing paediatric incidence: 15/10,000/yr.
  • Peaks at ages 4–6 years and 10–14 years (most common).
  • Racial and geographical variation. M > F.
89
Q

What are features of the history and examination for diabetes (type 1)?

A
  • General: Polyuria (nocturnal enuresis/persistently wet nappies/nappy rash), polydipsia, weight loss, recurrent infections, necrobiosis lipoidica (well-demarcated, red atrophic area, usually on lower leg), blurred vision, fatigue.
  • Diabetic ketoacidosis (DKA): Abdominal pain, vomiting, dehydration, drowsiness progressing to coma, Kussmaul breathing (rapid deep breathing) 2 to acidosis, acetone smelling breath.
  • Hypoglycaemia (2 to insulin treatment): Sweating, tremor, palpitations, irritability. Late (progressive) symptoms seizures, coma
90
Q

What are investigations for T1DM?

A
  • Urinalysis: Ketonuria, glycosuria.
  • Bloods: Random plasma glucose >11.0 mmol/l or fasting >7.0 mmol/l. HbA1c >7.5%. Islet
    cell antibodies.
  • DKA: Low blood bicarbonate, decreased pH, heavy ketonuria.
  • Hypoglycaemia: Plasma glucose <2.5 mmol/l.
91
Q

What is long term management of T1DM?

A
  • Aims
    • Normal growth and development
    • Maintaining a normal home and school life
    • Good diabetes control
    • Encouraging self-reliance
    • Anticipating and minimising hypoglycaemia
    • Maintain HbA1c < 48 mmol/mol
  • Management at school
    • An individualised care plan should be produced by the parents, diabetes team and the school
    • This should include:
      • Dietary needs
      • What to do if the child becomes hypoglycaemic or unconscious
  • Short-term goals are a more appropriate way to comply with their treatment
  • Transfer from paediatric to adult care should be done in a step-by-step manner with the provision of joint clinics
  • NOTE: there are now specialist periconceptional clinics which help women control their blood glucose when they are planning a pregnancy
92
Q

What is the management of T1DM?

A
  • Diet
    • Advise to eat a healthy, balanced diet
    • Match insulin doses to carbohydrate intake
    • Recommend high complex carbohydrate intake and modest fat content
    • Recommend high fibre intake
  • Blood Glucose Monitoring
    • Regular measurement of blood glucose is needed to adjust the insulin regimen and learn how changes in lifestyle, food and exercise affect control
    • AIM: maintain blood glucose as close to normal as possible
    • More than 5 tests per day should be done at times of changes in routine (e.g. illness)
    • Continuous glucose monitoring sensors are available and enable the detection of asymptomatic episodes and nocturnal hypoglycaemia
    • Blood ketone testing should be performed during illness or when control is poor to try to avoid severe ketoacidosis
    • HbA1c is a good measure of glycaemic control over the past 6-12 weeks and should be checked at least 4 times per year
      • TARGET: < 48 mmol/mol (6.5%)
93
Q

What is the management of hypoglycaemia?

A
  • IV glucose infusion (max 5 ml/kg of 10% glucose bolus followed by 10% glucose infusion) or orally
  • Avoid giving excess glucose because it is hypertonic and could cause cerebral oedema
  • IM glucagon can be given if there is a delay in obtaining IV access
  • Steroids may be required if there is possible pituitary or adrenal dysfunction
94
Q

What is the management of DKA?

A
  • Appropriate fluid resuscitation with IV normal saline
    >
  • Insulin sliding scale: short-acting soluble insulin via syringe driver (0.25 units/kg/h)
    >
  • Hourly U&Es –> K+ replacement on passing urine (plasma K+ falls as K+ enters cells with treatment)
    >
  • Switch to IV dextrose when glucose levels fall to 12 mmol/1
95
Q

What are complications of T1DM?

A
  • Acute: Hypoglycaemia, hyperglycaemia and DKA.
  • Chronic:
    • Microvascular
      • retinopathy,
      • neuropathy,
      • nephropathy
      • cataracts)
    • Macrovascular
      • ischaemic heart disease
      • hypertension
      • CVA disease
96
Q

What is the prognosis of T1DM?

A
  • Depends on quality of glycaemic control. Increased morbidity and mortality with DKA.
97
Q

What is encopresis?

A
  • Inappropriate passing of faeces at >4 years
98
Q

What is the aetiology of encopresis?

A
  • Retentive encopresis: Most common; 2 to functional constipation (constipation not associated with abnormality/medication use). Constipation > progressive rectal distension and stretching of the internal/external anal sphincters (IAS/EAS) > chronic rectal distension and loss of normal defaecation sensation.
  • Non-retentive faecal soiling: Occurs without constipation.
  • Emotional: May have an impact although not primarily a behavioural problem. Low self-esteem, parent–child conflict results from the disorder rather than being causative.
99
Q

What is the epidemiology of encopresis?

A
  • 1–3/100
  • (age dependent; 4 yrs = 3/100, >10yrs = 1–2/100)
  • M : F = 4 : 1.
100
Q

What are features in the history of encopresis?

A
  • Detailed history from child and carer important: stooling/sensation/constipation.
  • Children on average are symptomatic for 5 years prior to presentation.
  • Nocturnal encopresis uncommon.
101
Q

What are signs of encopresis?

A
  • Abdominal: Distension or palpable stool.
  • Digital rectal examination: Anal fissures or tears. Stool around perianal region. Anal sphincter may appear lax secondary to massive rectal distension and relaxation of the IAS. Normal anal wink and sensation. Rectum normally filled with soft stool.
102
Q

What are investigations of encopresis?

A
  • Anorectal manometry: Delineating child’s defaecation dynamics, evidence of megarectum, exclusion of ultra-short segment Hirschsprung’s disease.
  • Radionuclear transit scintography: Identifies slow colonic transit. May also be done with plain AXR after ingestion of different shaped markers
103
Q

What is the management of encopresis?

A
  • Medical: Constipation management with diet control. Colonic evacuation (disimpaction) may be required before laxatives. Laxative (e.g. Sennakot) at night encourages a motion in the morning after breakfast (gastrocolic reflex). Movicol is a commonly used medication. An enema programme may also be initiated.
  • Behavioural strategies: Regularly scheduled toileting, maintenance of a symptom diary and an age-appropriate incentive scheme.
  • Parental and child education: Reinforce good behaviour, including encouragement during periods of relapse. Exploration of the child’s self-perception and its relationship with soiling; behavioural programmes can help the child to recognise their own body signals
  • Biofeedback training: Children with chronic encopresis have paradoxical constriction of their EAS (anismus) during attempted defaecation; biofeedback training allows EAS relaxation during active straining.
  • Surgical intervention: Antegrade continence enema (ACE) either proximally (pACE or Mallone procedure) or distally (dACE). Allows the administration of enemas directly into the caecum or the distal colon to treat constipation causing retentive encopresis.
104
Q

What are complications of encopresis?

A
  • Low self-esteem with associated social acceptance problems.
105
Q

What is the prognosis of encopresis?

A
  • Depends on the underlying cause.

- Unusual for encopresis to persist beyond middle teenage years.

106
Q

What is nocturnal enuresis?

A
  • The involuntary passage of urine during sleep after the age when continence is anticipated.
107
Q

What is the aetiology of nocturnal enuresis?

A
  • General: May be primary (never achieved night-time continence) or secondary (recurrence having been dry
    for >6/12).
    • Monosymptomatic (absence of daytime voiding symptoms) and non-monosymptomatic (subtle
      daytime symptoms).
  • Developmental: Immature bladder control (with daytime frequency), disorder affecting arousal from sleep.
  • Environmental: Stress, family break-up, maternal separation, moving house, birth of a younger sibling, hospital attendance.
  • Abuse: Sexual, physical, emotional.
  • Structural: Decreased bladder capacity, congenital anomalies (ectopic ureter/posterior urethral valves/urethral diverticulum/congenital stricture).
  • Medical: Urinary tract infections, constipation, epilepsy, occult spina bifida, diabetes mellitus/insipidus, hyperthyroidism, neurogenic bladder.
108
Q

What is the epidemiology of enuresis?

A
  • M:F = 2 : 1.

- Decreased incidence with increased age: 7 year olds (M 9%, F 6%), 10 year olds (M 7%, F 3%).

109
Q

What are features in the history of enuresis?

A
  • General: Fluid/diet intake, voiding diary (objective documentation of voiding patterns/bowel movements), FHx, parental/child attitudes.
  • Medical: Symptoms of low functional bladder capacity (frequency/nocturia), urgency, daytime incontinence, ? clothes/bedding change, thirst, polyuria.
  • Social assessment: Family stresses? Indication of sexual abuse?
110
Q

What are signs of enuresis?

A
  • Hard stool in the abdomen
  • Patulous anus (wide gaping anal orifice)
  • Absence of anal wink
  • Cutaneous stigmata of spinal dysraphism (dimple above cleft/midline pigmentation/hair tuft)
  • Full neurological examination (for presence of a possible neuropathic bladder).
111
Q

What are investigations for enuresis?

A
  • Urine: MC&S and specific gravity (increased with decreased fluid intake).
  • Imaging: Bladder USS (pre-voiding capacity/wall thickness/residual volume).
112
Q

What is the management of enuresis?

A
  • General: Exclude other causes
  • Supportive: Parental and child encouragement. Non-punitive approach important
  • Behavioural therapy (>5 years): Star charts for dry nights; 20% response. Achieving good bladder and bowel habits. Easy access to toilet (esp. at school). Good fluid intake. Increased physical activity. Regular voiding (2 hourly).
  • Enuresis alarms (>6 years): 60% response. Use audio to waken child once wet. Increases awareness and ensures good bladder habits. Will respond in first month if successful, 3–6/12 continuous therapy, discontinue once dry for several months.
  • Medication: Desmopressin (synthetic antidiuretic hormone); decreased O/N urine production
    (Cochrane review evidence). Oxybutynin and tolterodine (anticholinergic medications);
    Increased bladder capacity and decreased detrusor overactivity. Imipramine and other tricyclics have
    good results but seldom used (S/E; mood changes and sleep disturbances).
  • Therapy sequence: Supportive/behavioural therapy > enuresis alarms > desmopressin > other medications.
113
Q

What are complications of enuresis?

A
  • Low self-esteem, depression, decreased social interactions
114
Q

What is the prognosis of enuresis?

A
  • Resolves on its own in 15% per year.
  • Majority will improve or resolve with combination therapy.
  • 1% of adults continue to require medications.
  • Also dependent on underlying co-morbidity.
115
Q 
What is a febrile seizure?
What is a 
  - simple febrile seizure?
  - complex febrile seizure?
  - Febrile status epilepticus?
A
  • Seizure associated with fever occurring in a child between 6 months and 5 years.
  • Febrile seizures usually arise from infection, inflammation outside the CNS in an otherwise neurologically normal child.
  • Does include seizures due to meningitis/encephalitis
  • Simple febrile seizure: Isolated, brief, generalised clonic/tonic-clonic seizure.
  • Complex febrile seizure: >15 minutes, focal features, repeat seizure within the same illness or incomplete recovery from seizure <1 hour
  • Febrile status epilepticus: Duration >30 min (up to 5% present as status epilepticus).
116
Q

What is the aetiology of febrile seizures?

A
  • Genetic: >50% concordance rate in monozygotic twins, family history of febrile seizures.
117
Q

What are features in the history for febrile seizures?

A
  • Determine the cause of the fever: viral URTI, otitis media, pneumonia, UTI or gastroenteritis.
  • Febrile seizures may occur after immunisation (not a contraindication to future immunisation with the same vaccine).
118
Q

How are febrile seizures examined?

A
  • Assess cause of fever: respiratory distress, ENT examination.
  • Exclude signs of CNS infection:
    • Meningitis: Strongly consider in febrile child <12 months old.
    • Encephalitis: Change in behaviour, persistent drowsiness or irritability.
119
Q

What are investigations of febrile seizures?

A
  • MSU
  • CXR
  • LP (if suspicion of meningitis/encephalitis), contraindicated if focal neurology or signs of increased ICP.
  • Bloods:
    • Glucose
    • U&Es
    • WCC
    • CRP
    • blood cultures as appropriate.
120
Q

What is the management of febrile seizures?

A
  • Protect them from injury (cushion their head)
  • Remove harmful objects nearby
  • Do NOT restrain or put anything in their mouth
  • When the seizure stops, check their airway and put them in the recovery position
  • If the seizure lasts > 5 mins:
    • Rectal diazepam repeated once after 5 mins if the seizure hasn’t stopped
    • OR one dose of buccal midazolam
  • Recommended dose of rectal diazepam:
    • < 1 month = 1.25-2.5 mg
    • 1 month - 1 year = 5 mg
    • 2-11 years = 5-10 mg
  • Recommended dose of buccal midazolam:
    • < 6 months = 300 mcg/kg of body weight (max 2.5 mg)
    • 6 months - 11 months = 2.5 mg
    • 1-4 years = 5 mg
    • 5-9 years = 7.5 mg
  • Call an ambulance, if 10 mins after the first dose
    • Seizure has NOT stopped
    • Child has ongoing twitching
    • Another seizure has started before the child has regained consciousness
  • Measure blood glucose if the child cannot be roused or is convulsing
121
Q

What is the management after a febrile seizure?

A
  • Identify and manage the cause of the fever
    • Urgently admit any child with suspected meningococcal disease
    • Use the NICE traffic light system to assess the likelihood of serious illness in a child with a fever
  • Arrange immediate hospital assessment by a paediatrician if:
    • First febrile seizure or if second seizure in a child who has not been assessed before
    • Diagnostic uncertainty about the cause of the seizure
    • Seizure lasted > 15 mins
    • Focal features during the seizure
    • Seizure recurred in the same febrile illness (or within 24 hours)
    • Incomplete recovery after 1 hour
    • < 18 months old
    • No serious clinical findings but is currently taking antibiotics
    • Parents are anxious and feel that they cannot cope
    • Suspected cause of the fever (e.g. pneumonia)
  • All other children can be managed at home
122
Q

What is the management of febrile seizures that can be managed at home?

A
  • Inform parents about febrile convulsions
    • They are NOT the same as epilepsy
    • The risk of epilepsy in the future is only slightly higher than the general population
    • Short-lasting seizures are NOT harmful to the child
    • 1/3 children will have another febrile convulsion
  • Advise parents about what to do when a seizure occurs
    • Protect them from injury
    • Do not restrain or put anything in their mouth
    • Check the airway and place in the recovery position when the seizure stops (explain that the child might be drowsy for up to an hour)
    • Seek medical advice if the seizure lasts < 5 mins, call an ambulance if it lasts > 5 mins
  • Advise parents about managing fever
    • Reducing fever does NOT prevent recurrence
    • Explain when and how to use paracetamol or ibuprofen
    • Advise about maintaining adequate fluid intake
    • Advise on when to seek prolonged symptoms
  • Advise parents to carry on with routine immunisations
  • Do NOT prescribe drugs to manage or prevent future seizures
  • Arrange follow-up
123
Q

What are complications of febrile seizures?

A
  • Mesial-temporal sclerosis is associated with prolonged febrile status epilepticus (>90 min)
124
Q

What is the prognosis of febrile seizures?

A
  • Recurrence: One-third of children will experience a recurrence.
  • Risk factors for recurrence include <18 months, family history of febrile seizures or epilepsy, complex febrile seizure and day care nursery attendance (increased frequency of febrile episodes).
  • Developmental sequelae: No subsequent deficit in cognitive ability/school performance.
  • Epilepsy: 1–2% will develop epilepsy; “ risk if family history of epilepsy, neurodevelopmental abnormality or complex febrile seizure.
  • Mortality: Low even in febrile status epilepticus.
125
Q

What is a fracture?

A
  • Disruption in the integrity and continuity of bone associated with soft tissue injury
126
Q

What is the aetiology of a fracture?

A
  • Trauma
  • Greenstick: Bone bends and breaks due to stronger fibrous periosteum in children.
  • Pathological: Bone weakness due to disease (congenital, malignancy).
  • Salter-Harris classification: Epiphyseal injuries: involve growth plate, types I–V depending on involvement of the physis, metaphysis and epiphysis
127
Q

What is the epidemiology of a fracture?

A
  • Common
  • M>F.
  • Incidence increased with age.
  • Majority secondary to sports and leisure activities, minority secondary to assaults, RTAs, pathological causes.
128
Q

What are features in the history for a fracture?

A
  • How did the injury happen?
  • Additionally, where, time elapsed, force, possibility of glass contamination, associated head injury, medications, previous injury or fractures and SHx.
  • Low threshold for suspecting NAI.
129
Q

What are signs of a fracture?

A
  • Closed fracture: Pallor and swelling over fracture site, obvious deformity
  • Open fracture: Bleeding and bruising over fracture, associated soft tissue injury
  • Neurovascular status: Assess for distal numbness, tingling, paralysis or loss of pulse
  • Musculoskeletal examination: Examine joint above and below for crepitus, effusion and pain.
  • Tuning fork test: Exacerbates pain over small stress fractures
130
Q

What are the investigations for a fracture?

A
  • X-ray: Rule of 2s: 2 views (frontal/lateral), 2 joints. Repeat 7–14/7 later in fracture clinic if fracture not immediately apparent.
  • MRI: May be required to assess ligamentous/soft tissue injury
  • Bone scan: Occasionally required to exclude stress fractures.
131
Q

What is the management for a fracture?

A
  • Initial: Resuscitation, analgesia, stabilisation with splints.
  • Closed reduction: Manipulation under anaesthetic (MUA)
  • Open reduction and internal fixation: Adequate exposure before fracture is reduced using wires, plates, screws or nails.
  • External fixation: Avoids soft tissues that are adjacent to the fracture.
  • Immobilisation: With plaster casts, braces or splints attached from joint above to joint below to allow healing. Traction by application of tension aligns ends of fracture.
  • Physiotherapy: Prevents contractures and loss of function.
132
Q

What are complications of fractures?

A
  • Short term: Neurovascular damage, malunion, non-union, delayed union of the fracture, infection (cellulitis/osteomyelitis), thromboembolic events (DVT, PE), avascular necrosis (scaphoid, femur), psychological impact of disabling condition.
  • Medium term: Compartment syndrome
  • Long term: Fractures involving the growth plate may arrest growth. Fractures involving joint surfaces may lead to arthritis.
133
Q

What is the prognosis of fractures?

A
  • Typically upper limb fractures require 3–4 weeks

- And lower limb 6–8 weeks to heal (depends on site of fracture and health of child).

134
Q

What is conjunctivitis?

A
  • Mucoid/purulent discharge from the eye.
135
Q

What is the aetiology of conjunctivitis?

A
  • Newborn: blocked lacrimal duct.
  • Infectious cause:
    1. Staphylococcus aureus/epidermidis, Streptococcus pneumoniae, Strep. viridans
      2. Chlamydia trachomatis; vertical transmission most common
      3. Neisseria gonorrhoeae; ophthalmia neonatorum
      4. Viral: adenovirus; exclude herpes simplex conjunctivitis (HSV).
  • Allergic cause: Vernal keratoconjunctivitis (VKC): chronic allergic inflammation
136
Q

What is the epidemiology of conjunctivitis?

A
  • Sticky eye in the newborn: 1% live births.

- VKC: rare.

137
Q

What are signs and symptoms of conjunctivitis?

A
  • Newborn: Present within the first week of life; mild mucoid discharge with no overt conjunctival inflammation. Non-canalised lacrimal duct may persist until 1 year.

Infectious
- Staphylococcal/streptococcal organisms: Mild presentation; may present with lid oedema, conjunctival injection, chemosis (swelling/oedema of the conjunctiva) and/or discharge.

  • Gonococcal: Usually presents on day 1, bilateral purulent conjunctivitis, associated with marked lid oedema and chemosis. May also present with rhinitis, stomatitis, arthritis or meningitis.
  • Chlamydial: Incubation period is 5–14 days. Presentation ranges from mild hyperaemia with scant mucoid discharge to lid swelling chemosis and pseudomembrane formation. May present with pneumonitis, pharyngitis, otitis media.
  • Viral: Usually presents as a unilateral red watery eye. May become purulent.
  • VKC: Classically presents with stringy white discharge in spring (tree-pollen sensitivity) but may be perennial. Itchy +++ . Giant papillae are classically visualised in the upper tarsal conjunctiva.
138
Q

What are investigations for conjunctivitis?

A
  • Not usually required for sticky eye of the newborn. If needs cleaning >4 hours need to screen for infection. In older child check visual acuity.
  • Microsopy, culture and sensitivity: Swab any discharge.
  • Chlamydial culture: If treatment is contemplated prior to results, chlamydial swab should also be taken and sent in virus transport medium.
  • Viral swab: PCR/culture for HSV if clinical suspicion.
  • Skin prick test/specific IgE: If VKC is suspected.
  • Intraocular pressure measurement: In long-term topical steroid use for VKC
139
Q

What is the management of conjunctivitis?

A
  • Sticky eye of the newborn: Regular saline cleaning
  • Empirical treatment; Chloramphenicol eye drops/ointment 4 hourly.
    1. Staphylococcus/Streptococcus: chloramphenicol eye drops/ointment.
    2. N. gonorrhoeae: IV benzylpenicillin.
    3. Chlamydia: oral erythromycin.
    4. HSV: topical antiviral and IV aciclovir.
  • Prevention: Antenatal treatment of maternal and paternal STDs.
  • Notification: Ophthalmia neonatorum is a notifiable disease.
  • VKC: Topical mast cell stabilisers, antihistamines and steroids.
140
Q

What are complications of conjunctivitis?

A
  • HSV: Corneal ulceration.
  • Gonococcal: Corneal ulceration, abscess, perforation.
  • Chlamydia: Inversion of the eyelids, irritation, corneal infections and scarring. All can lead to blindness.
141
Q

What is the prognosis of conjunctivitis?

A
  • Good with prompt investigation and treatment.
142
Q

What is delayed puberty?

A
  • When there are no signs of secondary sexual characteristics by age of 14 years
143
Q

What is the aetiology of delayed puberty?

A
  • Puberty: Acquisition of secondary sexual characteristics with an associated growth spurt and attainment of reproductive function
  • Due to central defect (e.g. hypogonadotrophic hypogonadism)
    1. Anorexia nervosa
    2. Excessive exercise
    3. Chronic illness
    4. Kallmann’s syndrome
  • Due to failure of gonadal function (e.g. hypergonadotrophic hypogonadism)
    1. Caused by gonadal failure (it does NOT respond to gonadotrophins)
    2. Associated with Turner syndrome and XX gonadal dysgenesis
    3. Premature ovarian failure can occur at any age (may be idiopathic, autoimmune, metabolic, or following chemo/radiotherapy in childhood)
    4. Associated with delayed puberty and primary amenorrhoea
144
Q

What is the epidemiology of delayed puberty?

A
  • Physiological or constitutional delay: 1/200

- Sex: M > F.

145
Q

What are symptoms of delayed puberty?

A
  • Symptoms of chronic disease (failure to thrive, lethargy)

- Elicit FHx and SHx.

146
Q

How do you examine delayed puberty?

A
  • General: Full examination to detect any indication of underlying disease, neurological signs (fundi, visual fields), dysmorphic features.
  • Testicular size: Orchidometer: 4ml at 10–14 years, 12ml at 12–17 years.
147
Q

What are the tanner stages of puberty?

A

Male Genital Stages

  1. Preadolescent
  2. Lengthening of the penis
  3. Increased length and circumference
  4. Glans penis, scrotal darkening
  5. Adult gentalia

Female Breast Stages

  1. Prepubertal
  2. Breast bud
  3. Juvenile smooth contour
  4. Areola/nipple project above breast
  5. Same shape nipple and breast

Pubic hair changes in males and females
1. Preadolescent, no sexual hair
2. Long downy hair along labia/base of penis
3. Dark, coarser, curlier hair
4. Filling out towards adult distribution
5. Adult in quantity and type, medial thigh
spread

148
Q

What are investigations for delayed puberty?

A
  • Bloods: TFTs, LH/FSH/androgen/oestrogen levels.
  • Karyotype: Chromosomal abnormalities.
  • Radiology: Bone age, USS pelvis: uterine size and endometrial thickness.
149
Q

What is the management of delayed puberty?

A
  • General: Treat underlying cause. Hormone treatment (patient and family’s choice)
  • Females: Oestrogen replacement therapy (treatment of choice). Administration PO or transdermally. After 12–18/12 of unopposed oestrogen therapy or after vaginal bleeding occurs, progesterone should be added.
  • Males: Hormonal replacement with intramuscular testosterone.
150
Q

What are complications of delayed puberty?

A
  • Complications of individual conditions

- Psychosocial complications including poor self-esteem, decreased academic performance and socialising with peers.

151
Q

What is the prognosis of delayed puberty?

A
  • Dependent on underlying pathology
152
Q

What is precocious puberty? (complete)

A
  • Early onset of puberty
    • Females: Primary pubertal changes <8 years or menarche <10 years.
    • Males: Primary pubertal changes <9 years.
153
Q

What is the aetiology of precocious puberty? (complete)

A 
- Central precocious puberty: Physiological normal pubertal development that is chronologically early. It results from hypothalamic GnRH-stimulated episodic
gonadotrophin secretion (increased LH > FSH).
  1. Idiopathic: there is often no demonstrable underlying pathology (especially in females).
  2. CNS dysfunction secondary to:
    • Hypothalamic hamartoma: most common type of CNS tumour that causes precocious puberty. It is a congenital malformation consisting of nerve tissue mass
      containing GnRH neurosecretory neurons
    • Destruction from tumours: craniopharyngioma, ganglioneuroma
    • Destruction from space-occupying lesions: arachnoid cysts
    • Hydrocephalus
    • Infection: brain abscess, encephalitis, meningitis
    • Head trauma.
  • Peripheral precocious puberty: Pubertal development resulting from stimulation by a hormone other than hypothalamic GnRH, i.e. gonadotrophin-independent. May result from:
  1. Inappropriate sex steroid synthesis 2 to:
    • Congenital adrenal hyperplasia
    • Tumours: adrenal, ovarian (granulosa cell), testicular (Leydig cell)
    • McCune–Albright syndrome: characterised by hyperpigmented lesions similar to cafe-au-lait spots, polyostotic fibrous dysplasia and several endocrine disorders such as precocious puberty, toxic multinodular goitre and amenorrhoea-galactorrhoea.
  2. Exogenous sex steroids: OCPs, topical oestrogens and overuse of vaginal oestrogen (used in labial adhesions).
154
Q

What is the epidemiology of precocious puberty (complete)?

A
  • F > M. Females are more likely to have idiopathic cause.
  • Up to 8% of white and 25% of black girls in the United States exhibited breast development or pubic hair and therefore this group suggested that definitions should be decreased to <7 for Caucasian girls and <6 for Afro-Caribbean girls.
  • Males are more likely to have organic cause.
  • Central is more common than peripheral.
155
Q

What are signs and symptoms of precocious puberty (complete)?

A
  • General: Early pubertal changes Must perform full cranial and peripheral nerve examination to identify intracranial pathology.
  • Specific: Signs specific to individual syndromes, e.g. hyperpigmented lesions in McCune–Albright syndrome.
156
Q

What are investigations of precocious puberty (complete)?

A
  • Bloods: LH/FSH/testosterone/oestrogen/LHRH levels.
  • Radiology:
    1. CT +/- MRI brain if neurological cause suspected
      178 PRECOCIOUS PUBERTY (COMPLETE)
    2. USS of the uterus and ovaries or testes
    3. Wrist X-ray: for assessment of bone age
157
Q

What is the management of precocious puberty (complete)?

A
  • Involve specialist paediatric endocrinologist
  • Manage organic causes
  • In idiopathic central precocious puberty, indications for treatment include the child’s age of onset and rate of pubertal development
158
Q

What are complications of precocious puberty (complete)?

A
  • Early bone maturation and reduced eventual adult height.
  • Potential psychological problems.
  • Possible presence of an intracranial/gonadal
    tumour or other serious problem.
159
Q

What is the prognosis of precocious puberty (complete)?

A
  • Depends on aetiology: removal of exogenous sex steroids versus large unresectable cerebral tumours.
160
Q

What is precocious puberty (partial)?

A
  • Early partial sexual development in some characteristics

- There are three categories.

161
Q

What is premature thelarche?

A
  • Development of just breasts in infancy
162
Q

What is premature adrenarche?

A
  • Pubic hair development before 8 years in females and 9 years in males.
163
Q

What is isolated premature menarche?

A
  • Premature vaginal bleeding
164
Q

What is the aetiology of premature thelarche?

A
  • Relatively high but decreasing activity of the hypothalamic–pituitary–ovarian axis from age 6 months to 2 years.
165
Q

What is the aetiology of premature adrenarche?

A
  • Early maturation of the normal pubertal adrenal androgen secretory mechanism.
166
Q

What is the aetiology of isolated premature menarche?

A
  • Spontaneous regression of an ovarian cyst
  • Hypothyroidism
  • McCune–Albright syndrome
167
Q

What is the epidemiology of premature thelarche?

A
  • Relatively common in girls <2 years of age
168
Q

What is the epidemiology of premature adrenarche?

A
  • More common in Asian and Afro-Caribbean children.
169
Q

What is the epidemiology of isolated premature menarche?

A
  • Uncommon
170
Q

What are the signs and symptoms of premature thelarche, premature adrenarche, isolated premature menarche?

A
  • Premature thelarche: Breast enlargement between the ages of 6 months and 2 years.
  • Premature adrenarche: Pubic hair development is usually self-limiting. It may be associated
    with a slight increase in growth rate.
  • May occur physiologically in the postnatal period. Must be distinguished from bloody foul-smelling discharge (trauma, foreign body, sexual abuse) and bleeding from the urinary tract. Obtain detailed history and examination to determine other causes
171
Q

What are investigations for precocious puberty (partial)?

A
  • General: May not be necessary with premature thelarche.
  • Pathology: LH/FSH/oestrogen levels, GnRH testing, ACTH testing (defects in steroidogenesis).
  • Radiology: USS of ovaries and uterus, bone age radiography.
  • Culture: Urine, vaginal discharge (premature menarche).
172
Q

What is the management of precocious puberty (partial)?

A
  • Involve specialist paediatric endocrinologist
  • Normally no intervention needed
  • Exclude evidence of complete precocious puberty and regular follow-up.
173
Q

What are the complications of precocious puberty (partial)?

A
  • Premature thelarche: Can progress to precocious puberty.
  • Premature adrenarche: May progress to polycystic ovarian syndrome (POS) or develop clinical features and hormonal evidence of excessive androgen synthesis in adolescence.
  • Isolated premature menarche: Depends on the cause.
  • Psychosocial difficulties due to not developing at the same speed as peers.
174
Q

What is the prognosis of precocious puberty (partial)?

A
  • Usually good.

- Most children go on to have normal puberty and no deficit in final adult stature.

175
Q

What is visual impairment?

A
  • Decreased visual acuity: <6/18 Snellen chart.

- Blindness: <3/60 Snellen chart.

176
Q

What is the aetiology of visual impairment?

A
  • Developed countries: 50% genetic.

- Developing countries: Mainly acquired causes.

177
Q

What is the epidemiology of visual impairment?

A
  • 10–20/10,000 UK children need special education for visual impairment.
178
Q

What are symptoms of visual impairment?

A
  • Lack of eye contact with parents
  • No responsive smiling by 6 weeks
  • Impaired social bonding
  • Visual inattention
  • Random eye movements, squint
  • Abnormal perceptual development
  • Delays in mobility, other developmental delays.
179
Q

What may be found on examination for visual impairment?

A
  • May be normal if impairment is of cortical origin.
  • However, children may lack fixation and visual tracking behaviour, or have persistent nystagmus, which is abnormal at any age.
  • Squint and cataracts may be apparent immediately or using red reflex on ophthalmoscope.
180
Q

What are investigations for visual impairment?

A
  • Snellen chart in children >5 years for visual acuity
  • Slit lamp exam
  • CT/MRI if indicated.
181
Q

What is the management of visual impairment?

A
  • Maximise development of compensatory responses and available visual ability (e.g. correct any refractive errors).
  • Advise parents on providing non-visual stimulation.
  • Ensuring safe environment for child.
  • Special schooling may be required for severely visually impaired children with teaching
    through Braille.
182
Q

What is strabismus?

A
  • Abnormal alignment of both eyes.
  • As a result, the eyes look in different directions and do not focus simultaneously on a single point.
  • Most commonly horizontal (convergent or divergent), but may be vertical (hypertropia – upward-looking or hypotropia – downward-looking).
183
Q

What is the aetiology of strabismus?

A
  • Failure to develop binocular vision.
  • Non-paralytic: More common and due to refractive error in one/both eyes.
  • Paralytic: Rare and due to paralysis of motor nerves.
  • When onset is rapid, may be due to underlying space-occupying lesion such as a brain tumour
184
Q

What is the epidemiology of strabismus?

A
  • 4/100 children.
185
Q

How does strabismus present?

A
  • Strabismus is a persistent squint after 2–3 months of age (may be intermittent).
  • Neonates often appear to squint due to overconvergence, but almost all correct in infancy.
186
Q

How is strabismus examined?

A
  • Corneal light reflection test: Reflection of the light simultaneously off both corneas does not appear in the same place.
  • Cover test: Squinting eye moves to take up fixation when normal eye is covered.
  • Fundoscopy and neurological examination.
187
Q

What are investigations for strabismus?

A
  • CT/MRI brain: If rapid onset, paralytic squint.
188
Q

What is the management of strabismus?

A
  • Refer to orthoptist and ophthalmologist.
  • Principles of treatment: Develop best possible vision for each eye
    • Correct any underlying defect, e.g. cataract.
    • Correct refractive error with glasses.
    • Treat amblyopia with patch occlusion therapy if it occurs.
  • Non-paralytic strabismus can be controlled by glasses that correct for overconvergence (longsightedness).
  • Congenital paralytic squints require surgery as soon as possible to enable the development of good visual function.
189
Q

What are complications of strabismus?

A

Amblyopia:
- Interference in visual input to eye during critical period (birth to 6 years) —> atrophy of retinocortical pathways, resulting in loss of visual acuity. If only one eye sees clearly, it inhibits the eye with a blur; therefore amblyopia is a neurologically
active process.

190
Q

What is the prognosis of strabismus?

A
  • With early diagnosis and treatment, the defect can usually be corrected.
191
Q

What are cataracts?

A
  • Opacification of lens present at birth
192
Q

What is the aetiology of cataracts?

A
  • Familial: Usually autosomal dominant.
  • Congenital infection: Rubella, CMV, toxoplasmosis, herpes simplex (TORCH)
  • Drugs: Corticosteroids.
  • Metabolic: Hypocalcaemia, galactosaemia, DM.
  • Chromosomal: Down syndrome, Turner syndrome, trisomy 13, trisomy 18.
  • Idiopathic: One-third are sporadic (not associated with other disease).
193
Q

What is the epidemiology of cataracts?

A
  • 1/250 live births
194
Q

What are symptoms of cataracts?

A
  • Congenital cataracts are present at birth but may not be identified until later in life.
  • Some cataracts are static, but some are progressive.
  • This explains why not all congenital cataracts are identified at birth.
195
Q

What are signs of cataracts?

A
  • Loss of red reflex
  • White reflex in the pupil (cataract, retinoblastoma or ROP)
  • Photophobia.
196
Q

How are cataracts investigated?

A
  • Slit lamp examination.

- Exclude associated conditions if suspected.

197
Q

What is the management of cataracts?

A
  • Surgical removal of cataract, ideally before 2 months
198
Q

What are complications of cataracts?

A
  • Amblyopia (if surgery is delayed)
  • Strabismus
  • Glaucoma (post-surgery).
199
Q

What is the prognosis of cataracts?

A
  • Irreversibly impaired vision if untreated
200
Q

What is iron deficiency anaemia?

A
  • Decreased Hb with low mean cell volume (MCV <80 fl) and depleted iron stores.
201
Q

What is the aetiology of anaemia?

A
  • WHO definition: Hb <11 g/dl (110 g/l) aged 1–2 years and <11.2 g/dl (112 g/l) aged 3–5 years.
  • General: Three stages in the pathogenesis: Fe2+ depletion –> Fe2+ -deficient erythropoiesis –>
    Fe2+ deficiency anaemia.
  • Decreased Fe2+ stores at birth: Prematurity, multiple pregnancy, perinatal bleeding, early umbilical cord clamping, and maternal Fe2+ deficiency.
  • Nutritional (inadequate Fe2+ supply):
    • Exclusive breastfeeding >6/12 (insufficient Fe2+ in breast milk)
    • Early cow’s milk introduction (decreased bioavailability of iron than breast milk and formula milk fortified with 6mg iron/l
    • Excessive reliance on milk in the second year of life
    • Strict vegetarian diet
    • Increased infant juice intake
    • Behavioral (food refusal, grazing, dieting,
      eating disorders)
    • Crohn’s disease, coeliac disease (decreased absorption).
  • Increased Fe2+ loss: Acute haemorrhage (Meckel’s diverticulum, intestinal duplication cyst, peptic ulcer); chronic haemorrhage (cow’s milk protein intolerance, intestinal duplication, IBD, telangiectasia, intestinal polyp); parasites (hookworm – Ancylostoma duodenale in developing countries); menstruation.
  • Increased Fe2+ demand: Growth; prematurity; IUGR; post malnutrition.
202
Q

What is the epidemiology of iron deficiency anaemia?

A
  • Most common nutritional deficiency disorder worldwide.
  • Incidence: 5–40% depending on community. Peak ages: 6 months to 3 years and adolescent girls.
  • Uncommon in non-premature infants <6/12 (fetally acquired iron reserves).
203
Q

What are symptoms of iron deficiency anaemia?

A
  • General: Gradual onset; failure to thrive, poor exercise tolerance, global developmental delay, headaches, and irritability.
  • Behavioural: Anorexia, pica (ingestion of odd materials with increased Fe2+), irritability, impaired concentration, impaired progress at school.
204
Q

What are signs of iron deficiency anaemia?

A
  • General: Signs of anaemia (pallor of skin and mucous membranes, tachycardia) and systolic flow murmurs.
  • Rarely: Brittle nails and hair (decreased epithelial cell iron), spoon-shaped nails (koilonychia), glossitis (atrophy of tongue papillae), angular stomatitis, mild hepatosplenomegaly and lymphadenopathy.
205
Q

What are investigations for iron deficiency anaemia?

A
  • Bloods: ↓Hb, ↓ ferritin, ↓ Fe2+, ↑ TIBC, ↓ haematocrit, ↓ MCV.
  • Hb electrophoresis: Exclude b-thalassaemia trait or Sickle cell disease.
  • Bone marrow (only in complicated cases): Erythroid hyperplasia and decreased bone marrow Fe2+ or total absence of iron.
206
Q

What is the management of iron deficiency anaemia?

A
  • Preterm: Fortify breast milk with Fe2+ . Use Fe2+ -fortified milk formula
  • Infants: Increase highly absorbable haem iron sources (meat, fish) and sources of non-haem iron
    (such as grains) in vegetarian families. Enhance non-haem iron absorption by eating vitamin C-rich foods at the same meal.
  • Oral FeSO4: Maximum rise of Hb 0.25–0.4 g/dl/day.
  • Blood transfusion: Indicated with severe anaemia leading to CHF and cardiovascular compromise. Packed RBCs should be given slowly or partial exchange transfusion.
207
Q

What are the complications of iron deficiency anaemia?

A
  • Possible impaired mental and psychomotor development.

- High output cardiac failure in severe cases.

208
Q

What is the prognosis of iron deficiency anaemia?

A
  • Good outcome if cause is nutritional or due to ↑ demand and prompt action is taken.
  • If underlying GI cause, outcome dependent on underlying cause.
209
Q

What is retinopathy of prematurity? (ROP)

A
  • Serious vasoproliferative disorder of the retina affecting extremely premature infants
210
Q

What is the aetiology of ROP?

A
  • General: Exact aetiology unknown. Possible theories include a neovascular response secondary to either gap junction development by mesenchymal spindle cells exposed to hyperoxic extrauterine conditions or retinal vasoconstriction secondary to hyperoxia leading to ischaemia with release of angiogenic factors (VEGF).
  • Very low birthweight and gestational age.
  • Prolonged exposure to high concentrations of supplemental oxygen
  • Classification system: Demarcation of disease location into zones of the retina (1, 2 and 3), extent of disease based on the clock hours (1–12), and severity of disease into stages (0–5).
211
Q

What is the epidemiology of ROP?

A
  • 50–70% of infants <1250 g have ROP, 10% stage 3.

- Patients of Afro-Caribbean descent appear to have less severe disease. M = F.

212
Q

What is the initial investigation of ROP?

A
  • Screen all at-risk neonates:
  • Gestational age <32 weeks
  • Birthweight <1500 g,
  • Screening begins at 4/52 (non-corrected age) and continues until the retina is seen to be fully vascularised.
213
Q

How is ROP investigated?

A
  • Experienced ophthalmologist.

- International classification system.

214
Q

What is the management of ROP?

A
  • Prevention: Likelihood is reduced with careful control of pO2 in the ventilated child and use of O2 concentrations of <40%.
  • Neonatal screening: Studies have shown that ablative therapy to destroy the avascular areas of the retina performed in threshold disease improves outcome.
  • Ablative surgery
    • Cryotherapy (freezing): Requires general or local anaesthesia. Proven therapy with CRYO-ROP trial. Complications: intraocular hemorrhage, conjunctival haematoma or laceration, and bradycardia.
    • Laser therapy: Preferred option to cryotherapy as the ocular tissues are less traumatised, general anaesthesia is avoided and there are fewer complications. Complications: cataracts, intraocular haemorrhages.
215
Q

What are complications of ROP?

A
  • Severe visual impairment
  • Myopia
  • Amblyopia
  • Strabismus.
216
Q

What is the prognosis of ROP?

A
  • Patients should receive yearly ophthalmology follow-up as the long-term visual sequelae need early detection and intervention.

Specialties (14 decks)

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