Trisomy 21 Case Study

Down syndrome is a condition which extra genetic material slows down the way in which an individual develops, both physically and mentally. As stated by the NHS; each individual with down syndrome is affected differently and can vary, some may need a lot of medical assistance whereas others may lead a normal healthy lifestyle but share similar characteristics.

There are many reasons why children's and young people's development may not follow the expected pattern some of these are:

A child with Down syndrome ranges from when they were born to about 12 years old. They tend to develop at a slower rate in comparison to the typical developing child.

Cleft lip is an abnormality of the lip which is a gap on the lip that may lead up to the nasal cavity and a cleft palate is a split in the roof of the mouth. This leaves a hole between the nose and mouth. Cleft lip and palate are not contagious, it is usually a genetic malformation. This happens during our development in the womb where everyone has a clefts. The appearances of the face are separated, but as we mature throughout the pregnancy the face comes together and finally seals itself. The lips form between 4 and 6 weeks of pregnancy and the palate forms between 6 and 12 weeks of pregnancy. In babies born with a cleft the sealing did not quite finish the process of closing itself.

Age is likely what comes to a lot of your minds when you think of Alzheimer’s disease, but what else is there?

Whole genome sequences show every gene and chromosome contained within the fetus. This will allow parents to see everything that makes up the DNA of the child and even with the possibility of ¨what will happen during the teenage and adult years¨ (Shurkin 1). Every parent has the idea of their dream child, what happens when whole genome sequencing shows that their future baby is not what they expect? As one article written by Joel Shurkin suggests that prenatal genetic test results might lead to parents raising their child differently, genetic manipulation, or even abortion if they are not pleased with the results. These options are rather common, with the rate of abortion ¨around 85% for Down Syndrome¨ (Press 74). Abortion has long been an issue that has been debated surrounding medical ethics. With genetic testing leading to many parents choosing to terminate the pregnancy in the case of a ¨probable risk that a fetus carries a genetic disorder¨ (Rebouché and Rothenberg 988) it lends itself to believe that there is a direct connection between genetic testing and abortion. This is why genetic testing must be done only in necessary cases, to be able to protect the lives of unborn children that have

Chris Burke once said, “ Having Down syndrome is like being born normal. I am just like you and you are just like me. We are all born in different ways, that is the way I can describe it. I have a normal life.” This quote completely describes the life of Phoebe Henry in The Memory Keeper's Daughter. Phoebe Henry, daughter of David and Norah Henry was given away at birth, because David was afraid of what the future for Phoebe might be like with down syndrome. The night of Paul - Phoebe’s twin brother - and Phoebe’s birth, David sent Caroline Gill to a Foster care facility, where she was supposed to drop Phoebe off at the doorstep.

The article, “Prenatal Tests puts Down Syndrome in Hard Focus,” begins with a soft lead. It focuses on Sarah Itoh, a child with Down syndrome. I found this to be effective because of the nature of this article, it is talking about a child with Down syndrome and it shows off a little bit of her personality. The nut graph of the article comes after the author describes that Sarah likes school and how Math was hard, but it is getting better. I believe the nut graph is:

Genie Wiley is a pseudonym of a girl that went through many trials in her life. All of which had been bottled up in the horrors of living in a small room for twelve years in confinement with her abusive father. Reason for her being inside a room for twelve years is because her dad, Clark Genie, was self-centered and thought Genie was mentally retarded, thus he locked her up under the guise that he was protecting her. In doing so Clark separated Genie from her nearly blind mother, Irene Wiley, and six-year-old brother, John Wiley. Not only did Wiley lock up his own daughter but he spoon-fed her only Pablum and milk, spoke to her in mostly growls and barks, and beat her with a wooden paddle every time she attempted to

Dakota's Pride is a heartwarming documentary about a parents search for the truth about Down syndrome. In this 40-minute documentary difficult questions are posed to and answered by a noted Harvard Physician, Down Syndrome Advocates, and parents of children with Down syndrome. The answers are inspiring, in addition to being informative, this documentary celebrates the successes that have been and can be attained by individuals with Down syndrome.

One of the many conditions that can result from a genetic mistake is the way we seem to grow as opposed to others. One of the few people with this condition is 7 year old Nell. When Nell was born her parents knew that something was wrong with her because she was growing at a rapid pace. As the years went by, they for sure knew that something was

Throughout the semester, I have gained a better understanding of adapted physical education and sport programs. These programs provide children and adults with an opportunity to participate in sports they may not have thought were possible. The modifications to sport and exercise allows individuals with a range of disabilities to engage in activity. The disabilities can range from a mild learning disability to a permanent condition caused from a serious accident. While observing numerous individuals with disabilities, I was able to obtain a better understanding of the challenges that came with physical activity.

There is currently no known cure for down syndrome but several precautions can be made for fetuses and treatments can be done for children and adult patients to ensure a healthy lifestyle. For this patient in particular, to improve his hearing loss, one may recommend a hearing aid or a cochlear surgery to repair the sensory organ (Notes). In terms of the aphasia, I would recommend regular speech and language therapy. The goals of aphasia treatment are “to maximize the recovery of impaired language functions, to assist in the development of alternative and compensatory communication strategies, and to help the patient adjust to the residual deficits (Plante, 241). This patient will participate in several speaking exercises, may learn new forms of communication like gestures and may possibly use Melodic Intonation Therapy as well (Schlaug). At this individual’s young age, he should be placed in individual therapy in order to receive the one on one attention that is required in order for him to

Birth defects are structural or functional abnormalities present at birth, which result in physical and mental disabilities. Most common birth defects found in babies is down syndrome, an inherited metabolic disorder, congenital heart defects, gastrointestinal and kidney malformations, and even death. Different types of food are linked to birth

Thesis: Down syndrome is a wide range of development delays and physical disabilities caused by a genetic disorder.