Down+Syndrome

Down Syndrome Nick Sweet-Mackin Victoria Olaechea

I HAVE USED RED AND CAPS FOR AREAS THAT NEED IMPROVEMENT - I AM NOT YELLING :-) MAKE SURE YOU PRINT THE QUESTIONS NEXT TO THE NUMBERS AND THEN ANSWER YOUR QUESTIONS. ARE THERE DIFFERENT SEVERITIES OF DOWN SYNDROME - ANOMALY - VARIANCES FROM THE NORM. AND HAVE ALL QUESTIONS COMPLETED BY 5PM FOR FULL CREDIT.

This birth defect is called Down Syndrome. Down Syndrome is also known as trisomy 21. It is the most common form of mental retardation which is caused by an extra chromosome in a persons set of chromosomes. This disease can affect the way a child develops. (Physically and mentally)
 * 1. What is the name of the birth defect? **

Down syndrome has many symptoms and characteristics it holds. Some symptoms and characteristics a person who has Down syndrome may have is they could have short stature. The child would grow slowly and as an adult be they would be shorter than average. A short, wide neck and excessive skin fat. But as the child gets older it is more unnoticeable. A single crease across the center of the palms of the Childs hand. This is known as transverse palmer crease or simian line. Facial features of a person with Down syndrome are that there nasal bridge would be pushed in and also they may have small, low set ears. Many who have Down syndrome were hearing aids. Now the medical conditions for a person suffering from Down syndrome are he/she may experience heart defects. Almost half of people with Down syndrome have a heart defect. Down syndrome patients are prone to developing more health problems such as dental, respiratory infections and hearing problems. (ANY PHYSICAL COMPLICATIONS, WALKING, RUNNING ETC) []
 * 2) What are the symptoms? Describe in detail. **

Down Syndrome is a genetic disorder and can affect any type of race or gender. It is a genetic disorder because this disease happens when a baby ends up having 47 chromosomes instead of 46. This causes the child to develop differenntly. There is no specific reason or genetic factor known to as why this happens.
 * 3. What population does the defect most commonly affect? (if any)? (only males, whites, ect.?) **

The cause of Down syndrome is a genetic disorder that can be found before or after the child is born. There are normally 46 chromosomes in each cell. 23 chromosomes from the mother and 23 chromosomes from the father you would inherit. When there is an extra full or partial copy of chromosomes 21. It is known as Down syndrome. This genetic defect is not a dominant or recessive trait but it’s a mutation.
 * 4 ) What is the cause of the defect? (genetic, environmental or a combination of both) A. If the defect is genetic defect id it a dominant or recessive trait or is it the result of a mutation? (see developing child txr p. 151) B. If it is an environmental defect, what conditions lead to its cause? C. Is it a combination of inherited and environmental conditions? What are the conditions?) **

Down Syndrome is always diagnosed either during pregnancy, or shortly after birth. It is not diagnosed later in life or as an adult. (HOW, WHAT DO THEY DO TO TEST FOR IT BEFORE OR AFTER, WHAT INDICATES A CHILD WILL HAVE DOWN SYNDROME BEFORE BIRTH, MORE DETAIL)
 * 5. When is the defect most commonly diagnosed? **

Down Syndrome has no known cure. Basically the treatment for Down Syndrome is to control the symptoms and prevent things that might happen later in life due to the disorder. This includes either regular checkups, screenings, medications, or surgery. There are also counseling groups and therapy that people who have down syndrome may join to help them deal with everyday situations and issues that these people face. There is physical and mental therapy. Physical therapy can be to help self care skills, (such as feeding, dressing, grooming, ect.) fine and gross moter skills, skills related to school performance, (cutting, printing, ect.) and play and leisure skills. Mental therapy can help with children and how they feel and what they think. For example, children with Down Syndrome may be bullied at school, and therapy can help the children overcome this problems and such. These groups may also help with emotiomal or any practical aspects of Down Syndrome.
 * 6. How is the defect most commonly diagnosed? (at birth, prior to birth, or what age-be specific) **

Down syndrome can be treated with regular checkups with the doctor to see if the person may have enhanced his/her abilities such as hearing, seeing and fine motor skills. Medications are used to treat the syndrome but cannot cure the disability. Surgery has been used also on Down syndrome patients because they want to change there appearance in society but the physical factor is still there (INTERESTING, WHERE DID YOU FIND THIS - PROVIDE THE LINK). Lastly counseling and support is used to treat Down syndrome and any other disabilities a child may have. Counseling and support is the number one treatment used today for almost everything. A cure for Down syndrome has been talked about and funded to find a cure but has not been found yet. Scientist say there is more important things to cure before we head into a disorder such as Down syndrome such as cancer. As of May 18, 2012 there is no cure for this disability.
 * 7) How is the defect treated and who (which specialists) treats the defect? What is the hope for a cure in the future? **

**8. Is there any way to prevent the defect? If so, what precaitions are needed?** There is no prevention for Down Syndrome. Although if you are pregnant, you can prepare beforehand by finding a doctor that has dealt with kids with down syndrome. You should also learn the most you can about Down Syndrome so that you will understand your child as much as you can. You can also join a support group so that you can talk with other parents who are going through the same thing and share your stories with them. This can help you through the difficulties of having a child with Down Syndrome.

9. (AND IN COLCHESTER, THEY WOULD GO WHERE AND TO WHO? NEED AT LEAST THREE - PROVIDE SERVICES IN DETAIL)

Melissa Riggio is in 12th grade and has Down Syndrome. She shares her story about how she feels about having this disorder. She explains how she feels like people wouldn’t want to read her story, about her having Down Syndrome. She feels that people just look at the outside of her, and don’t wanna talk to her, or think she is weird. She wished people would look at her as a whole, and not just the outside. She says how she is just like a typical girl, with talents and dreams. Melissa loves to write poetry. She has also published two songs, but doesn’t sing them. Someone else sings them, but Melissa says that one day she will be the one singing her own songs because she just has the feeling and knows that she will be a famous singer. Melissa says that there are also things about her disorder, that causes difficulties in her life, For example, she sometimes has to do her classwork in a “reference room” because of her learning disabilities, and a lot of her friends and the people in her school can drive and she cant, so this is something that she has to deal with. Melilsa says that if there was one thing she could change about her having Down Syndrome, it would be that people would see her as a whole, and that they could understand who she really is, and not just what they would see if they were to first meet her, or see her. She says that if people really knew her as a whole, inside and outside, then she would be treated differently, and she just wished everybody would understand. Melissa says “After all, I would do the same for you.” []
 * 9. Find a case study, a person's story about having this defect. Describe the lifestyle changes and adjustments caused by this birth defect. What is life like with this birth defect for the child and the family? (you must have a reference for this.) **

When a child is born with the defect of Down syndrome there are a few things that are out there to support the families. There is a program that is nationwide called CARE and it’s a online web site where the parent can find a mach for the child. You would look through the list and once you find a good match, you would contact them and discuss what you want them to do. There really like a stay at home nurse but go home every night. Usually they live close and you would pay them the amount they are looking for which is usually ten to twenty dollars an hour. On the website it gives you much information on the care giver. For example, Rachel G, who lives in Colchester CT, is asking ten to twenty dollars an hour. She is twenty two years old and her experience with the CARE program has been for four years now. Her experience has been with ages of infant, youth and teen. The web site even includes what type of diagnoses she has helped children face such as ADD, ADHD, Aspergers, Asthma, Autism, Developmental Delays, Down syndrome, Dyslexia, Food Allergies, Obesity and Speech Delay. Also the website gives a quick paragraph that the person has typed about themselves. Rachel for example typed “I am really available and willing to work! I have taken classes in childhood education, I worked at a daycare for five years, I have been a nanny for three years, and I am CPR and First Aid certified. I am a creative, responsible, fun, loving, energetic person. This website is a great way so for the child to be able to make a friend and the parent could feel more comfortable that there child is having the support and help he/she needs. []
 * 10) What kind of support is available to families of a child born with this defect? Give specifics. **

After researching info and answering questions about Down syndrome, the impact it had on me as a person is that I feel I now have a clearer and better understanding of Down syndrome. I found out when a doctor can find out if the child will have Down syndrome or not and also what people can do to help a person with Down syndrome.
 * 11) At least one additional information about the birth defect that had an impact on you. **