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12 Cards in this Set
- Front
- Back
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Which disorders are tested for on the guthrie card?
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PKU - phenylketonuria
Hypothyroidism CF Galactosemia Inborn errors of metabolism? Amino acid metabolism: Maple syrup urine disease; Homocystinuria Organic acid metabolism: Methylmalonic acidaemia (MMA) Fatty acid oxidation: medium chain acyl-CoA dehydrogenase deficiency (MCAD) |
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Apart from blood tests what else is screened in newborns
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Hearing loss
Aims to identify all problems by 3/12 and to initiate treatment by 6/12 |
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Why is PKU screened for at birth?
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deficiency of phenylalanine hydroxylase prevents conversion of phenylalanine to tyorisne --> build up of toxic metabolites
--> congenital abnormalities, mentral retardation |
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Why is galactosemia screened for at birth
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Autosomal recessive disease
deficiency of galactose-1-phosphate uridyltansferase leading to an inability to process lactose/galactose --> Increased risk of sepsis Liver and brain damage irreversible if diagnosis not made at birth Liver, renal failure, jaundice, FTT, cataracts |
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Mx of PKU and galactosemia
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Dietary restriction of phenylalanine (proteins, artificfial sweetners) within first 10 days of life - lifelong or until end of puberty
restriction of galactose (dairy, breast milk) - infants - soy based diet |
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Why is congenital hypothyroidism screened for at birth?
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If only discovered after 3-6 months of age --> permanent developmental delay and/or mental retardation (mild to profound)
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What are the causes of congenital hypothyroidism
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Malformation of the thyroid gland or maternal iodine deficiency, prenatal exposure to antithyroid medications or radioiodine
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How do you manage congenital hypothyroidism
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thyroxine replacement
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Why is it important to screen for congenital adrenal hyperplasia?
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CAH - caused by 21 hydroxylase deficiency --> decreased cortisol and aldosterone with shunting towards over production of androgens
Cortisol deficiency --> adrenal hyperplasia May develop low glucose, shock, hyperkalaemia, salt wasting (Low NaCl) --> MEDICAL EMERGENCY - babies can die of vomiting, diarrhea, dehydration, shock at 2-4 weeks of age |
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Risk factors for hearing loss
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family history of sensorineural hearing loss
TORCH craniofacial abnormalities birthweight < 1500g hyperbilirubinaemia necessitating exchange transfusion ototoxic meds (chemo) bacterial meningitis mechanical ventilation for > 5 days neurodegenerative disorders trauma |
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Outline tips for keeping a baby safe while sleeping
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No smoking
Use cot not own bed Place baby on its back Tuck baby in tightly under sheets baby's feet at bottom of bed firm clean mattress, no doona, pillows etc |
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Outline the back to sleep campaign
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has reduced Australian SIDS deaths by 80% since 1980s and global SIDS deaths by 50%
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