Chronic & Terminal Illness Peds

  1. 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)
  2. Fill in: With down syndrome there are __a__ copies of chromosome 21.
    three: thus the nname Trisomy
  3. What are s/s of Down syndrome?
    • Hypotonia
    • Constipation
    • Simian crease
    • Small short ears, upward slanting eyes
  4. What screenings will you see with down syndrome? (alpha fetoprotein, HcG, estriol)
    • Low serum alpha fetoprotein
    • High HcG
    • Low maternal estriol levels
  5. What cardiac issues can a down syndrome baby have?
    • Congenital heart defects: 
    •  - ASD (atrial septal defect) 
    •  - VSD (ventrical septal defect)
    •  - AV canal
  6. With Down syndrome, this dz is the common cause of death in the first year of life
  7. 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
  8. 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.
  9. 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.
  10. 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
  11. List signs of auditory impairments at these starting months

    1. Infants <6 months
    2. 6 months
    3. 7 months
    4. 15 months
    5. 24 months
    • 1. Lack of startle or failure to be awakened by environment
    • 2. failure to localize source of sound
    • 3. absent babble
    • 4. gestures rather than verbalizing
    • 5. monotone speech, not intelligent speech by 24 months
  12. This is a visual problem in which the eyes are not aligned properly and point in different directions. One eye may look straight ahead, while the other eye turns inward, outward, upward, or downward.
  13. What are the 5 stages of grief?
    • 1. denial
    • 2. anger
    • 3. Bargaining
    • 4. depression 
    • 5. acceptance
  14. What is this child's concept of death who is 0-2 y/o:

  15. What is this child's concept of death (2-7 y/o):

  16. What is this child's concept of death (7-12 yo):

  17. What is this child's concept of death (12+ yo):

  18. When talking to a child, what sense is the last to go?
  19. What can these manifestations indicate:

    Facial dysmorphsm (large ears, long/narrow face)
    Hyper-extensible fingers
    Extremely soft and smooth skin
    Mitral valve prolapse
    Autistic behavior, temper tantrums, Hyperkinetic (agitation)
    Poor coordination
    Fragile X syndrome: a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment
  20. What is PKU (phenylketonuria) and what disorders can it cause if it isn't dx and treated at birth?
    A rare genetic condition that causes an amino acid build up (phenlalanine) which can't be broken down by the body.

    It can cause irreversible brain damage and intellectual disabilities or behavioral problems in children if not dx and treated at birth
  21. In a hospice infant, which sense is the last to go?
Card Set
Chronic & Terminal Illness Peds
Exam 4 Lecture notes