Pathophysiology: Functional Alterations in Human Health – Genetics&Birth Defects Example

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"Pathophysiology: Functional Alterations in Human Health" is a perfect example of a paper on genetics and birth defects.   To know more about the pathophysiology of the development of Down syndrome during pregnancy and use it as tool-making parents understand the disease even more. To know the risk factors that predispose a person to have Down syndrome and use it as a learning tool to educate expecting mothers and women how and why it happened to prevent the prevalence rate from hitting up. To help understand modalities in the treatment and dealing with patients with such condition and offer it to families of children having the disease so as to aide and guide those families eventually in dealing with babies having the condition like what to expect and how to communicate with these clients in their mental level as well as giving emotional support. Pathophysiology:   Human development starts with 46 chromosomes or 23 pairs.

  The first 22 pairs are called autosomes and are similar both in males and females. The 23rd pair of chromosomes are called sex chromosomes because according to studies these chromosomes determine the sex of a person.

  The nomenclature of human chromosomes for a male is 46, XY, and a female is 46, XX.   Down syndrome is a condition characterized by alteration in the number of these chromosomal pairings.   People born of this condition have three copies of chromosome 21, the reason why the condition is also called trisomy 21, giving 47 chromosomes instead of 46.  These additional chromosomes can be caused by abnormal fertilization, failure in cell division, or translocation.   This extra chromosome intervenes with the normal brain and body development of a growing fetus (U. S.

National Library of Medicine, 2012).   The only clear predisposing factors that increase the chance of having Down’ s syndrome is the woman’ s age during pregnancy.   But other factors are also considered by researchers such as environmental factors such as smoking, exposure to viruses and other diseases during pregnancy— in Miriam’ s case could be gestational diabetes, use of oral contraception, exposure to radiation and harmful agents.   Although little evidence can support the chances of the said factors.   Down’ s syndrome is the number one cause of birth defects in the world and the chances of having it cannot be prevented. Down syndrome can never be treated but what is important for families recently exposed to have a member with Down syndrome is to make them realize that these kids still have a chance at life and can live to their full potential with proper guidance.   The Treatment modality is focused on the promotion of maximal independence and quality of life.   Early intervention programs such as speech therapy, language, and physical therapy will help clients and their family achieves optimal function (Braun & Anderson, 2006).   Behavioral training can help people with Down syndrome and their families deal with the frustration, anger, and compulsive behavior that often occur.   Parents and caregivers should learn to help a person with Down syndrome deal with frustration and to encourage independence (U. S.

National Library of Medicine, 2012).                         Patients having Down’ s syndrome can live normally if properly addressed.   Although the disease is accompanied by other conditions such as congenital heart diseases that remain to be the most frequent cause of early death.   Thus tests such as an echocardiogram, ECG and x-rays should be done to check regularly on complications that can be present with the syndrome that needs immediate intervention.   In this case, the initial focus of the intervention is to help mothers accept the child’ s condition and make her understand that the child can still live normally— they can still breastfeed, learn to walk, and go to a special school to learn and be trained.     Women should also undergo tests to confirm Down’ s syndrome such as genetic testing.    


Braun C. & Anderson C. (2006) Pathophysiology: Functional Alterations in Human Health. Lippincott William & Wilkins, p. 141-142

National Health System (2012) Down’s Syndrome.

U.S. National Library of Medicine (2012) Down Syndrome. Medline plus. Retrieved from:

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