This is a rare genetic condition that causes an amino acid to build up in the body, due to a missing enzyme that can't break down the excess amount.
It is screened at birth and if left untreated, it can cause brain damage and disabilities, or behavioral problems.
PKU: Phenylketonuria (amino acid)
Fill in: With down syndrome there are __a__ copies of chromosome 21.
three: thus the nname Trisomy
What are s/s of Down syndrome?
Small short ears, upward slanting eyes
What screenings will you see with down syndrome? (alpha fetoprotein, HcG, estriol)
Low serum alpha fetoprotein
Low maternal estriol levels
What cardiac issues can a down syndrome baby have?
Congenital heart defects:
- ASD (atrial septal defect)
- VSD (ventrical septal defect)
- AV canal
With Down syndrome, this dz is the common cause of death in the first year of life
This genetic disorder is caused by a change in a gene that is passed on from parent to child. It can cause developmental disabilities, including learning and cognitive impairment.
Fragile X Sndrome
What is MSUD? How is it characterized?
Maple Syrup Urine Disease:
Maple syrup urine disease (MSUD) is a disorder in which the body cannot break down certain parts of proteins. The urine of people with this condition can smell like maple syrup.
It is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development. If untreated, maple syrup urine disease can lead to seizures, coma, and death.
How does Tay Sachs affect nerve cells and what can it cause?
disease results when an enzyme that helps break down fatty substances is absent. These fatty substances build up to toxic levels in the child's brain and affect the nerve cells. As the disease progresses, the child's body loses function, leading to blindness, deafness, paralysis and death.
What are the 4 types of Hearing Loss?
1. Conductive: outer or middle ear damage, preventing sound conduction
2. Sensorineural: result of damage or malformation of structures in inner ear and/or nerve (meningitis signficant cause)
3. Mixed: combo of conductive and sensorineural; conductive less reversible
4. Central: result of dmg to the conduction system between auditory nervous system and cerebral cortex. Could be from trauma or brain tumors
List signs of auditory impairments at these starting months