Down 's Syndrome : Down Syndrome

Jane O'Brien: (In a comforting voice) First, calm down, Miss Anderson. I know it’s hard for you to hear your baby has Down syndrome but please take a deep breath, I will explain everything you need to know. First of all, Down Syndrome is a genetic disorder that involves birth defects, intellectual disabilities, and characteristic facial features. Additionally, it often involves heart defects, visual and hearing impairments, and other health problems. if you thinking what is genetic disorder is. Genetic disorder is altered or faulty gene or set of genes. The four broad groups of genetic disorders are single gene disorders, chromosome abnormalities, mitochondrial

A person with downs syndrome has extra chromosome. The defect usually involves the twenty first chromosome. With this chromosome defect you do not develop like the average human being. With Down syndrome you have a short body stature and your face has a very broad profile, the most noticeable way to tell if someone has Down syndrome is their ears and their eyes are aligned differently than someone who doesn’t have downs syndrome. When you are growing up with Down’s syndrome your speech develops much slower and it is much harder to annunciate your words. some over time can develop great speech and some

. Down syndrome is not a disease that someone catches and is not caused by difficulties during the pregnancy, it is a genetic condition. This condition is caused by the presence of an extra chromosome in the body’s cells and causes a redundant amount of proteins to be formed. All cells of the body derive from a single cell formed by the fusion of a father’s sperm and a mother’s egg. Each cell carries a nucleus full of genetic material known as genes. These genes are inherited from both the mother and father. Each cell normally contains 46 pairs of chromosomes. 23 chromosomes come from one parent and 23 from the other, hence the 46 pairs. When it comes to children with down syndrome, one of the chromosomes does not separate properly and so the

“Down’s syndrome or learning difficulties are at a lower risk of 4 in 10 infants per 1000 live infants born”.

Down syndrome occurs in people who were born with three, rather than two, copies of the 21st chromosome. This extra genetic material is what brings about the effects of Down’s syndrome. It is often characterized by an impairment of cognitive (process of thought) ability. Most people with Down syndrome have lower than average, mild to moderate, cognitive ability and this cannot be predicted at birth. A smaller number fall into the severe impairment range. Physically, people with Down’s syndrome are smaller in stature, have less muscle tone, and have noticeably different facial features. The number of these births occurs approximately in one out of every one thousand (ndss.org). As of 2007, the number of people in the United States with Down syndrome stood at about 350,000. These numbers will shrink because now (most) potential parents can know the condition of the fetus early. This information is included to let the reader relate to the struggles that some with Down syndrome goes through.

Down syndrome is a genetic disorder that numerous individuals around the world suffer from; it is an intellectual disability that is caused by having one too many chromosome 21 copies, trisomy 21. The average person has two copies of chromosome 21 in each cell, whereas, an individual with Down syndrome has an extra copy of chromosome 21. This happens when either the sperm or egg cell undergoes atypical cell division during development. In the United States, there are approximately 400,000 individuals who have been diagnosed with Down syndrome, according to the last census in 2012 (National Down Syndrome Society).

syndrome might be there for as long as chromosome 21 exists. In earlier times people with down

Down Syndrome is the most common genetic disorder in the U.S., with one in 691 babies born with this genetic disorder. Estimates concerning the prevalence of ASD and Down syndrome among children and adults vary greatly, between 1 and 10 percent; however, George T. Capone, M.D., states that he believes 5 to 7 percent is an accurate estimate. This percentage is significantly higher than the 0.4 percent incidence of Down syndrome seen within the general population.

Since DMD is an inherited X-linked recessive disorder, males who gain the mutated gene on the X chromosome are affected, whereas females have two X chromosomes, in this case the chromosome without the mutation will compensate. Individuals are usually diagnosed with this very aggressive disorder in childhood. As I grow in my profession here at Kaplan, I am educated on the importance of providing care that is focused around the patient, which aspires me to offer compassionate care. I find it very unfortunate that children are affected by many disorders and diseases that are fatal. Most children with terminal diseases have a limited time to experience blessings in the world, which gives me the desire to be a blessing to them. Ultimately, I would like to become a Pediatric Nurse, making this disorder

There are many feelings that a parent will experience in handling a diagnosis of developmental delayed child. After dealing, with their personal feelings about the many issues that will have to be addressed. The parents have to develop a plan of action for their child that should involve early intervention, understanding educational programs/ services offered in their community, and transitional programs that will help prepare the child for life. Not to mention, “Parents acquired more information, their concerns decreased, their satisfaction increased, and they demonstrated an ability to transfer their learning to new situations.”(Reio & Fornes, p.54 2011). Parents will have to cultivate a train of thought for their child success in school and life.

I remember replying to a few of your posts last semester. Did you know Duchenne Muscular Dystrophy affects more boys than girls? Expect them to be in a wheel-chair at around during their early teens. It is also know that it takes longer for them to start walking, which means they barely walk during their lives. They even have a hard time raising their arms and fall often if they were walking. They might struggle to climb up the stairs or it may not even be worth the trouble. The worst case scenario is Cardiopathy because DMD causes damage to the heart. To further elaborate, the lacking of dystrophin results to weakening of the muscle layer in the heart which is called myocardium. This situation could indeed threaten their life. DMD has also affected the way they learn verbally and they even have a hard time focusing. In addition, they will struggle to recall memories and could interact emotionally different than most people (MDA For Strength, Independence & Life, 2016). I’d choose adoption if I could have avoided this devastating syndrome. I would also suggest prenatal diagnosis.

Down syndrome doesn’t just show up during your life, you’re not going to just start noticing you have Down syndrome in the middle of your life or be diagnosed with it later on. You’re born with it; you have no way to get rid of it at any time. You can’t change it. Down syndrome is a chromosomal condition that is linked to intellectual disability. Each human should have 46 chromosomes, 23 from the father, and 23 from the mother. But whenever you have a child with Down syndrome they are born

Down syndrome is a birth defect caused by a genetic disorder that affects 350,000 people in the United States. It is caused by abnormalities in the genes and is not inherited, meaning that parents do not pass this onto their children. Genetics is the study of heredity or how certain traits are passed from parents to their children. Genes are the basic unit of heredity. Cells are the building blocks of your body and each one of us has more than 100 trillion cells. Our genes are located in chromosomes. Each cell in your body contains 46 chromosomes or 23 pairs. In a person with Down syndrome, there are 47 chromosomes. In 1956, a French researcher named Jerome Lejeune used a new powerful microscope to view human strands of DNA. DNA is what

1. The Center for Disease Control and Prevention state that, “Down syndrome continues to be the most common chromosomal disorder. Each year, about 6,000 babies are born with Down syndrome, which is about 1 in every 700 babies born.”

A person that has Down syndrome may have some physical problems or disabilities. Some common physical problems are: short necks, poor muscle tone, a small head and an overall smaller body. Approximately one third of babies born with Down syndrome have heart defects, most of which are now