Question

Veronica, a 5-month-old girl with Down syndrome, and her family are being seen for a healthy checkup. The parents express concern about Veronica’s growth and her color. They are worried that her lips turn blue while she is eating.

1. As a culturally competent nurse, what knowledge would be critical in assessing the child and family health?
2. Describe the importance of nurses understanding the genetics of Down syndrome prior to interacting with the child and family.
3. Imagine and state the primary concern you would have if you were the parents.

Answer 1

Down syndrome is also known as trisomy 21,is a genetic disorder caused when abnormal cell division results in extra genetic material from chromosome 21.

Human cells normally contain 23 pairs of chromosomes.One chromosome in each pair comes from your father, the other from your mother.Down syndrome results when abnormal cell division involving chromosome 21 occurs. These cell division abnormalities result in an extra partial or full chromosome 21.This extra genetic material is responsible for the characterestic features and developemental problems of Down syndrome.Most of the time,Down syndrome is not inherited.It is caused by a mistaken in cell division during early developement of the fetus.It also includes certain birth defects,learning problems and facial features.A child with down syndrome also may have heart defects and problems with vision and hearing.Intellectual disability, developemental disorder and thyroid problems are also common in this case.So the nurse should have minimum this knowledge before assessing the child or prior to interacting with the child and family.In this case the parents sre worried about the blue color of lips while eating.It can be a symptom of congenital heart disease because down syndrome babies have more chances to have this disease.So advise the parents to confirm whether the child has any such problems.

It is very important to accept the baby in the way as he or she is.It can be bit scary and overwhelming.We may feel that our baby is very different from the baby we expected,but really our baby is not so different after all.Our baby has the same needs as any other baby like warmth,safety,love,feeding,diaper changing ,child check ups and all.It is important to remember that the baby can and will learn,it will just take a bit more time and practice.Do not limit your hopesor expectations.In this case the primary concern is to confirm whether the child has any congenital heart disease.