Thesis on "Down Syndrome According to the Mayo Clinic"

Thesis 6 pages (1576 words) Sources: 5 Style: APA

[EXCERPT] . . . .

Down Syndrome

According to the Mayo Clinic, Down syndrome is a "...genetic disorder that causes lifelong mental retardation, developmental delays and other problems. Down syndrome varies in severity so developmental problems range from moderate to serious." (2009) Down syndrome is stated to be the most common of all genetic-based learning disabilities of a severe nature in children and is stated to occur "in one in every 700 to 800 infants." (Mayo Clinic, 2009)

Shapiro (2009) reports that there has been a recent increase in the number of children born with Down syndrome over the past several years and in fact it is stated that the incidence of Down syndrome births was recorded as having grown approximately "...31% between 1979 and 2003 from 9 per 10,000 births to 12 per 10,000 births. It is stated by Shapiro that the reason that is believed to be that most likely for the rise in Down syndrome births is that women are waiting longer to have children and it has been shown that "the prevalence of Down syndrome is five times higher among births to women who are 35 years of age and older." (Shapiro, 2009)

Another reason is stated to be due to those with Down syndrome "leading longer, healthier lives." (Shapiro, 2009) That may be resulting in women who had considered terminating the pregnancy to go ahead and bring the child into the world knowing that their prospects are much brighter than in previous years because today's children with Down syndrome "go to regular schools and some, these days, even go on to college." (Shapiro, 2009)

Shapiro (2009) states that there are supports for the family of the child with Down syndrome and National Down Syndrome Congress also exists to enable these individuals in coping with Down syndrome most effectively. (Shapiro, 2009) In 2002, research stated findings that 1 of every 971 children and adolescents living and ages 0 to 19, living in ten population areas with the total number of Down syndrome cases in the U.S. being stated at approximately 83,000. (Shapiro, 2009, paraphrased) Differential findings are stated among racial and ethnicity groups and specifically stated are the findings as follows:

(1) Hispanic families were most likely to have a child with Down syndrome;

(2) Non-Hispanic white families are the group second most likely by race and ethnicity to have children with Down syndrome; and (3) Followed by non-Hispanic white families. African-American families were the least likely to report having a child with Down syndrome. (Shapiro, 2009)

II. Genetic Origin -- Physical Effect

Down syndrome is stated to result from the individual having 47 rather than the 46 genes that the majority of the population has. The individual with Down syndrome may have a very small head that is shaped somewhat in an abnormal fashion generally with the head being round but flat on the back and the inner corner of the eyes are often rounded rather than pointed. Common physical signs re stated to include those as follows:

1. Decreased muscle tone at birth

2. Excess skin at the nape of the neck

3. Flattened nose

4. Separated joints between the bones of the skull (sutures)

5. Single crease in the palm of the hand

6. Small ears

7. Small mouth

8. Upward slanting eyes

9. Wide, short hands with short fingers

10. White spots on the colored part of the eye (Brushfield spots) (Google, 2009)

Physical development is often slower than normal. Most children with Down syndrome never reach their average adult height.

III. Delayed Mental and Social Development

Children may also have delayed mental and social development. Stated as common problems of the child with Down syndrome are the following:

(1) Impulsive behavior

(2) Poor judgment

(3) Short attention span

(4) Slow learning (Google 2009)

As the child with Down syndrome develops and begins to realize the limitations placed on them by this syndrome they often are frustrated and angry.

IV. Accompanying Medical Conditions

Medical conditions that children born with Down syndrome are subject to are those stated as follows:

(1) Birth defects involving the heart, such as an atrial septal defect or ventricular septal defect

(2) Dementia, Alzheimer's type may be seen

(3) Eye problems, such as cataracts (most children with Down syndrome need glasses)

(4) Early and massive vomiting, which may be a sign of a gastrointestinal blockage, such as esophageal atresia and duodenal atresia

(5) Hearing problems, probably caused by regular ear infections

(6) Hip problems and risk of dislocation

(7) Long-term (chronic) constipation problems

(8) Sleep apnea (because the mouth, throat, and airway are narrowed in children with Down syndrome)

(9) Teeth that appear later than normal and in a location that may cause problems with chewing

(10) Underactive thyroid (hypothyroidism) (Shapiro, 2009)

In addition the development of these children physically is often delayed and occurs much slower than in normal children. The Down syndrome child rarely reaching their average adult height and they also may have "...delayed mental and social-development." (Shapiro, 2009)

V. Treatment

There is not a specific treatment regimen for the child with Down syndrome. Some of these children are born with "gastrointestinal blockages and are in need of surgery immediately after birth. Certain heart defects may also require surgery." (American Accreditation HealthCare Commission, 2009) Some infants with Down syndrome cannot be successfully breast-fed and obesity is often a problem among older children and among adults as well.

Exercise is critically important for the individual with Down syndrome as well as is avoidance of foods that are high in calorie content. Behavioral training is recommended for those with Down syndrome due to the experiential anger, frustration and the compulsive nature of the Down syndrome child.

The Down syndrome adolescent female is fertile and there is "an increased risk of sexual abuse and other types of abuse in both males and females." (American Accreditation HealthCare Commission, 2009) Those with Down syndrome should be:

(1) Taught about pregnancy and taking the proper precautions;

(2) Taught to advocate for themselves in difficult situations;

(3) Kept in a safe environment. (American Accreditation HealthCare Commission, 2009)

VI. Causes of Down syndrome

The cause of Down syndrome in the majority of cases is where an extra copy of chromosome 21 exists in the genetics of the individual with this syndrome. This form of Down syndrome has been named 'Trisomy 21'. (American Accreditation HealthCare Commission, 2009)

VII. Testing and Diagnostics

The diagnosis of Down syndrome is upon the basis of the baby's physical appearance, the presence of a heart murmur and a blood test to check for the presence of the extra chromosome. (American Accreditation HealthCare Commission, 2009) Other tests that may be conducted include those of:

(1) Echocardiogram to check for heart defects (usually done soon after birth)

(2) ECG

(3) X-rays of the chest and gastrointestinal tract (American Accreditation HealthCare Commission, 2009)

VIII. Screening

It is important that those with Down syndrome be screened closely for the presence of specific medical conditions. Screening recommended includes those as follows:

(1) Eye exam every year during infancy

(2) Hearing tests every 6-12 months, depending on age

(3)Dental exams every 6 months

(4) X-rays of the upper or cervical spine between ages 3-5 years

(5) Pap smears and pelvic exams beginning during puberty or by age 21 (American Accreditation HealthCare Commission, 2009)

IX. Prognosis

Approximately fifty percent of children with Down syndrome has co-occurring heart problems stated to include "atrial septal defect and ventricular septal defect which may result in an early death for the individual. Those with Down syndrome also are at an increased risk for some leukemia types also resulting in an early death.

X. Complications

Complications arising from Down syndrome include those stated as follows:

1. Airway blockage during sleep

2. Compression injury of the spinal cord

3. Endocarditis

4. Eye problems

5. Frequent ear infections… READ MORE

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