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Paediatrics (Y4) > 1- Community (Screening) > Flashcards

1- Community (Screening) Flashcards

1
Q

healthy child programme: newborn screening timeline

A
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2
Q

types of screening in the healthy child programme

A
  • newborn physical examination
  • newborn Blood splot
  • newborn hearing screen
  • infant physical examination
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3
Q

when is the newborn physical examination done

A

by 72 hours

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4
Q

when is the newborn blood spot done

A

day 5

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5
Q

when is the newborn blood spot done

A

day 5

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6
Q

when is the newborn hearing screen done

A

from 0 to 5 weeks

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7
Q

when is the infant examination done

A

6-8 weeks

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8
Q

why do newborn infant screening

A
  • To identify babies with rare, but serious conditions
  • Aims to achieve early detection, treatment and referral of babies thought to be affected by these conditions
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9
Q

who do the newborn examination

A
  • Community team
  • Or inpatient team
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10
Q

aim of newborn and infant physical examination

A
  • Screen for congenital abnormalities.
  • Refer where appropriate.
  • Reassure parents.
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11
Q

what is examined in the newborn physical examination

A
  • Eyes
  • Heart
  • Hips
  • Testes
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12
Q

examination of eyes: risk factors for problems

A
  • Family history of congenital or hereditary cataracts (1st degree).
  • Maternal exposure to viruses (rubella, CMV) in pregnancy.
  • Prematurity.
  • Trisomy 21.
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13
Q

examination of eyes: newborn examination

A
  • Ability to fully open eyelids.
  • Both eyes same size.
  • Roundness and symmetry of pupils.

Presence of red reflex.
* Absence - ? Cataracts
* White - ? Retinoblastoma

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14
Q

examination of eyes: 6-8 week examination

A
  • Smiles as visual response.
  • Ability to fix steadily (without nystagmus)
  • Ability to fix and follow. (large bright object)
  • Alignment of eyes.
    (can be variable, consistent abnormal)
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15
Q

examination of the heart: risk factors for problems

A
  • Family history of congenital heart disease (1st degree).
  • Cardiac anomaly suspected from antenatal scan.
  • Trisomies.
  • Maternal exposure to viruses e.g. rubella in first trimester.
  • Maternal conditions e.g. Type 1 diabetes, epilepsy, SLE.
  • Teratogenic drugs during pregnancy e.g. anti-epileptics.
  • Maternal drug or alcohol abuse.
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16
Q

examination of the heart: observation

A
  • General tone.
  • Central and peripheral colour.
  • Chest inspection: size and shape; symmetry of movement.
  • Use of diaphragm and abdominal muscles.
  • Signs of respiratory distress: respiratory rate, recession/grunting.
17
Q

examination of the heart: palpation

A
  • Assess perfusion through capillary refill time.
  • Femoral and brachial pulses for strength, rhythm and volume.
  • Position of cardiac apex (dextrocardia); any abnormalities (thrill).
  • Abdomen to assess liver size (enlarged in congestive heart failure).
18
Q

examination of the heart: auscultation and murmurs

A
  • Significant murmur
    o usually loud.
    o heard over a wide area.
    o harsh rather than soft quality.
    o associated with other abnormal findings.
  • Benign murmur
    o Sensitive (changes with child’s position)
    o Short duration (not holosystolic)
    o Single (no associated clicks or gallops)
    o Small (murmur limited to a small area and non-radiating)
    o Soft (low amplitude)
    o Sweet (not harsh sounding)
    o Systolic (occurs during and is limited to systole)
19
Q

examination of the heart: signs which suggest major congenital heart anomaly

A
  • Tachypnoea at rest (normal newborn RR 40-60 breaths/min).
  • Apnoea lasting >20 seconds or associated colour change.
  • Recession and nasal flaring.
  • Central cyanosis.
  • Visible pulsation over precordium, heaves, thrills.
  • Absent or weak femoral pulses.
  • Presence of cardiac murmur or extra heart sounds.

side note
* Many babies will have a murmur at birth without a heart defect.
* BUT, murmurs can be absent with a significant heart defect.

20
Q

examination of the hips: risk factors for problems

A
  • Family history of hip problems (1st degree).
  • Breech presentation at or after 36 weeks gestation.
21
Q

examination of the hips: examination

A
  • Differences in leg length.
  • Knees at different levels when hips and knees are bilaterally flexed.
  • Buttock/posterior thigh skin folds asymmetry on ventral suspension.
  • Difficulty in adducting the hip to 90 degrees.
22
Q

examination of the hips: manipulation

A

Palpable ‘clunk’ when undertaking Barlow and Ortolani manouvres.

23
Q

examiantion of the testes: risk factors for problems

A
  • Family history of cryptorchidism (1st degree).
  • Low birth weight.
  • Small for gestational age or preterm delivery.
24
Q

examiantion of the testes: examination

A
  • Observe scrotum for symmetry, size and colour.
  • Palpate scrotal sac to locate testes; if none check inguinal canal.
25
Q

Associations of cryptorchidism:

A
  • Significant increase in the risk of testicular cancer.
  • Reduced fertility when compared to normally descended testes.
  • Associated other urogenital problems: hypospadias, testicular torsion.
26
Q

why is heelprick testing done on days 5-8

A

before this too much of the mothers blood)

27
Q

heelprick screening background

A

10 illnesses

  • Congenital hypothyroidism
  • Cystic Fibrosis
  • Phenylketonuria (PKU)
  • Medium chain acyl XCoA Dehydrogenase deficiency
  • Maple syrup urine disease
  • Isovaleric acidaemia
  • Sickle cell disease
  • Glutaric aciduria Type 1
  • Homocystinuria
  • Severe combined immune deficiency (SCID)- newly added
28
Q

heelprick screening important principles

A
  • Doesn’t mean child definitely has disease
  • Emphasise early treatment is the goal
29
Q

inborn errors of emtabolism screened for in heelprick

A
  • Start treatment for PKU and MCADD within 21 days
30
Q

heelprick procedure

A
  • dont use vaseline
  • take from lateral side
31
Q

congenital hypothyroidism: background

A
  • One of most common preventable causes of intellectual impairment.
  • Inverse relationship between age of treatment initiation and IQ.
32
Q

aetiology behind congenital hypothyroidism

A

Primary- defect in thyroid
- Thyroid dysgenesis (absent, hypoplastic or ectopic)
- Dyshormonogenesis

Secondary- hypothalamic-pituitary dysfunction

33
Q

congenital hypothyroidism presentation

A

Few or no clinical manifestations of hypothyroidism
* Due to maternal thyroxine which crosses the placenta
* Many infants have some, although inadequate functioning thyroid tissue

Manifestations at birth
* Birth length and weight within normal range
* Weight often at relatively higher centile due to myxoedema
* Delayed calcification in epiphyses

34
Q

CF background

A
  • Most common life-shortening autosomal recessive condition.
  • Occurs more commonly in Caucasians (1 in 2500) but increasingly recognised in South and East Asia, Africa and Latin America.
  • Median predicted survival is 39 years.
35
Q

screening test for CF

A

Immunoreactive tryspin (IRT)

  • Trypsinogen normally produced in pancreas and carried to small intestine where it changes from inactive ‘proenzyme’ to active ‘enzyme’ trypsin.
  • Blocked pancreatic ducts in CF impede passage of trypsinogen into gut and result in build up in the blood. Can be detected and measured as IRT levels increase.
  • Best screening test for CF, but several other causes for raised IRT.
36
Q

if IRT screen positive

A

Sweat test and genotyping

Sweat test
- Sweat chloride elevated in CF (60-125 mmol/L); normal value 20-60 mmol/L.
- Sweating stimulated by pilocarpine iontophoresis.
- Requires adequate volume of sweat (>100 mg)
Genotyping
- CF transmembrane conductance regulator (CFTR) gene

37
Q

presentation of CF

A
38
Q

newborn hearing screen

A

4-5 weeks
- automated otacoustic emissions testing
- if baby fails this then you repeat the test
- if they fail again -> auditory brainstem response

39
Q

automated otoacoustic emissions (AOAE)

A

A small soft-tipped earpiece is placed in your baby’s ear and gentle clicking sounds are played. It’s not always possible to get clear responses from the 1st test.
- detects normal sound vibrations from outer hair cells in the cochlea

Paediatrics (Y4) (42 decks)

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