case study #1 Trisomy 21

Question 1

Trisomy 21

Answer 1

The presence of an extra #21 chromosome
It is a genetic disorder that involves birth defects, intellectual disabilities, characteristic facial features, heart defects, visual and hearing impairments, etc.

Cause: an error when the 46 chromosomes are divided in half, if they keep a third copy of chromosome #21.

Question 2

Syndrome

Answer 2

A group of symptoms that consistently occur together or a condition characterized by a set of associated symptoms.

Question 3

1. The delivery room nurse immediately noticed that the baby had low set ears, a low flat nasal bridge, a portending tongue, and a wide epicanthic folds. These characteristics lead the nurse to suspect:

Answer 3

That these characteristics are most properly related to some sort of chromosomal defect. These findings represent abnormal fetal development and are likely due to a genetic malformation
This syndrome, the newborn is often floppy has a flat occiput, and is short.

Question 4

2. As mom inspects baby, notices baby’s eyes are slanted and finds creases extending the full width of his palms, The baby appearance…

Answer 4

These two findings are called epicanthal folds and simian creases, respectively

Findings are seen in 50% of all Abbie’s with T-21.

Question 5

3. Although a majority of chromosomal aberrations are sporadic they can on occasion be directly inherited. The genetic basis for the baby’s aberration will be identified by;

Answer 5

Analyzing the chromosomal formation of his white blood cells.

In the majority of cases Down syndrome in older women the aberration is not linked to parental chromosomal patterns, although it would be helpful to establish chromosomal patterns in both patterns in cases where inheritance may be a factor.

Question 6

4. Chromosomal disjunction is best described as

Answer 6

Failure of two chromosomes to separate during the first meiotic phase of cellular division.

Question 7

5. What is the best way to explain to parents what happened genetically.

Answer 7

Down syndrome occurs when the 21 st chromosomes fail to divide properly, creating a trisomy can condition. Chromosomal aberration is multifactoral attributed to genetic predisposition and environmental and chance occurrences.
75% arise from Nondisjunction of the mothers cells
25% from fathers cells.
The risk of having a DS baby to a 45 yr old mother is 1 in 16 = 6% result from nondisjunction.

Question 8

6. During close watch of baby in 24 hours, nurses closely watch for abdominal distention. Note the baby has not passed a stool since birth. Which has to be a nursing assessment?

Answer 8

Metabolic and enzyme functions are frequently altered in DS babies.

In DS metabolic processes and enzymes factors may be alerted. This alteration is caused by the triplication of the genes governing these functions. Nurses caring for babies with T-21 must be aware that gastrointestinal complications, particularly intestinal atresia are frequent.

Question 9

7. Which is the most accurate statement the nurse can make about the physical problems their son may have.

Answer 9

Babies with DS often have cardiac anomalies, respiratory infections, kidney problems, and tracheoesopahgeal fistulae.

40-50% have congenital heart disease and septal defects.
Intestinal atresia. Renal agenesis are also common. They are also at risk for increased susceptibility to these infections. Combo of heart d, and resp. illness is the main cause of death within the first year of life.

Question 10

8. Concerns about their sons degree of mental retardation. The nurse can tell them …

Answer 10

Every child with DS has some degree of mental retardation but most have IQ’s within the “trainable” range.

41.7 for males 49.9 for females
40% of these have higher than 50
There are Developmental peaks and plateaus and motor development may lag behind mental development. Parents can provide the environment necessary for optimal development and health in the home.