Newborn screening Flashcards
(4 cards)
1
Q
- Cognitive disabilities (usually severe)
- white matter hyperintensities
- seizure
- eczema
- decreased pigmentation
- behavior problems
- psychological issues
- mousy or musty odor
A
Phenylketonuria
2
Q
clinical presentation:
- jaundice
- sleeping longer or more often
- constipation
- hypotonia
- swelling around eyes and tongue
- delayed growth and weight gain
- eventual learning/developmental diabetes
Treatment within 10-14 days of life to achieve normal growth and development
A
Primary congential hypothyroidism
3
Q
Clinical presentation:
- tiredness
- difficulty breathing
- pain or swelling in hands or feet
- risk for infections
- risk for stroke
treatment
- hydration
- pain medications
- antibiotics for infections
- hydroxyurea
- blood transfusion may be necessary
- CRSPR gene editing
- penicillin prophylaxis by 90 days of life
A
Sickle cell disease
4
Q
Affects the anterior horn cells (motor neurons) of the spinal cord
Multi-organ involvement
- musculoskeletal
- respiratory
- GI and nutrition
- autonomic
- bone health
- mental health
- cardiac
Cause of death is respiratory failure
Most common lethal genetic disease of children under 2 years old
A
Spinal Muscular Atrophy
