BY: NAIYOLIS PALOMO Down Syndrome (Trisomy 21)

Why is it Important I think it is important to educate yourself about this chromosomal disorder so you won’t jump to conclusions. Once you know some facts about this disorder you’ll be less likely to judge or believe the stereotypes. I also believe that if you plan to be have a family someday, you should learn about the causes and risks of this disorder. It is always good to know how this disorder affects the individual’s life and their family’s life, thus you’ll be more understanding.

Brief Background of Down Syndrome Most frequent chromosomal disorder. It occurs when an extra chromosome appears in chromosome 21, which is is called Trisomy 21. This extra chromosome forms an error in cell division in the egg or sperm. It is more likely to occur after a woman reaches the age 35, however this could also happen to parents of all ages, all social, racial and economic backgrounds. It has nothing to do with what the mother or father did during the pregnancy Some body features include short stature, round face, and almond- shaped eyes. Screening Tests is done as early as 11 weeks of the pregnancy to find out the risks of having a child with Down syndrome, Diagnosis Tests are done between weeks of the pregnancy to find out if the fetus actually has down syndrome. These two tests are 98% to 99% accurate, however in some cases it could create a small risk of miscarriage In the UK, the birth rate of kids with Down syndrome has risen in recent years, 9% higher. In the U.S, birth rate has increased by 31%. Worldwide, there is an estimation of 220,000 babies born every year with Down syndrome.

Health of an Individual with Down syndrome The effects of Down syndrome can vary widely, common Down syndrome effects can include the following: -Thyroid problems, an enlargement of the thyroid gland and disturb the autonomic nervous system -Hearing Problems, external ear and bones of the middle and inner ear may develop differently. They have a hearing loss of greater than 15 to 20 decibels. -Congenital Heart Disease, include tetralogy of fallot, persistent ducts arteriosus, atrial septal defect and ventricular septal defect

Health of an Individual with Down syndrome The effects of Down syndrome can vary widely, common Down syndrome effects can include the following: -Eye Problems, crosses or misaligned eyes. Glaucoma and Cataracts can affect people with this disorder, but Cataracts can be surgically removed -Bone, Muscle, Nerve or Joint Problems, they often have poor muscle tone. Hypotonia may effect the muscles of the digestive system. They also suffer from problems in the hips or knees, the joints in those places may slip out of place because they are loose. They also suffer from defective development of the spinal cord -Immune System Problems and Infections, they are more likely to develop middle ear infections, chronic respiratory infections, and many others because their immune system does not work properly

Health of an Individual with Down syndrome The effects of Down syndrome can vary widely, common Down syndrome effects can include the following: -Developmental Delay, they often are slow to turn over, sit, stand or respond, this might occur due to the fact the they have a poor muscle tone. Their ability to speak may also take longer -Mental Retardation, they often have an IQ that fall in the mild to moderate range of mental retardation, but some are not affected as much and are capable to even hold a job. However every person with Down Syndrome is a unique individual and not all of them will develop all these medical problems

Common Treatments and Quality of Life Treatments are used to help them with developmental delays. Some treatments such as special therapy help these children reach their full potential. Most people with this disorder participate in many activities at schools, jobs and many other activities. Some of them live with their family, friends or some even live by themselves. Today’s average lifespan of a person with this disorder in the U.S is approximately 60 years of age. Most of them complete high school and a handful of them receive a graduated degree. Many of them can work, volunteer and vote Government programs provide education and training for people with Down syndrome. A small number of them are choosing to get married and live together.

How does Down syndrome affect family and society Every family is unique and have their different ways of dealing with a child that has Down syndrome Despite all the challenges that they might faced by raising a child with this condition, many families are stable, successful and happy. Siblings often increased tolerance, compassion and awareness. Divorce rate among parents of children with Down syndrome is lower than the average parents. They are becoming more integrated in society and community organizations There is a larger widespread public education and acceptance

Current Research/Focus Research objectives is to find out the abnormalities in brain structure and function that can be responsible for cognitive problems in Down syndrome and explain their genetic basis. Current studies are carried out in mouse models of Down syndrome but in the future, researches hope to have access to brain tissues from people with Down syndrome. DSRTF believes that the most promising research today involves understanding the underlying genetic, biological and neurological processes in Down syndrome and how they relate to cause cognitive dysfunctional. Unfortunately there’s not cure for Down syndrome, once a baby is born with Down syndrome, they will always have an extra chromosome. However, research may be able to reverse the affects of the extra chromosome with regards to the degree of mental retardation Unfortunately there are no guidelines for preventing Down syndrome. If there is any concern about having a child with Down syndrome, you might consider getting a genetic test.

Obstacles preventing resolution The lack of funding for research benefiting people with Down syndrome. Without research funding there can be no centralized patient registry or database system that can help people with Down syndrome, who want to participate in clinical trials or education studies Without Research funding, the frequency and recovery rates of heart conditions can not be properly estimated, nor can they be cured.

Works Cited - "Facts and FAQ About Down Syndrome." Global Down Syndrome Foundation. N.p.,n.d. Web. 13 Apr "Down Syndrome." Down Syndrome. N.p., n.d. Web. 13 Apr "Down Syndrome Effects." EMedTV: Health Information Brought To Life. N.p., n.d. Web. 13 Apr "Down Syndrome Symptoms -- Typical Physical Characteristics." WebMD. WebMD, n.d. Web. 13 Apr "What Is Down Syndrome?" - National Down Syndrome Society. N.p., n.d. Web. 11 Apr "About Down Syndrome." About Down Syndrome. N.p., n.d. Web. 13 Apr "Research FAQs." - Down Syndrome Research and Treatment Foundation. N.p., n.d. Web. 13 Apr