Sunday, November 13, 2011

Sources

http://www.nichd.nih.gov/health/topics/down_syndrome.cfm
Multiple Interviews with: Dr. Dudley Bell MD
http://kidshealth.org/parent/medical/genetic/down_syndrome.html
http://ghr.nlm.nih.gov/condition/down-syndrome

Is a cure for DS likely?

Because Down’s Syndrome is chromosomal disorder, there is no cure that has been found. However, getting a DS child into therapy is a great and effective way to treat the disorder. 

Some organizations that can help or provide more information:

Band of Angelswww.bandofangels.com


Central Illinois Down Syndrome Organizationwww.cidso.org
Dads Appreciating Down Syndromewww.dadsappreciatingdownsyndrome.org

Down Syndrome Research Foundation:www.dsrf.org

Families Exploring Down Syndromewww.FamiliesExploringDownSyndrome.org


National Association for Down Syndromewww.nads.org
Northwest Down Syndrome Assocationwww.nwdsa.org
Omaha Down Syndrome Parents Networkwww.odspn.org
Parents of Children with Down Syndromewww.pcdsmi.org
Riverbend Down Syndrome Parent Support Groupwww.riverbendds.org

What is everyday life like? What is the quality of life?

The quality of life for a DS kid greatly depends on the home a DS child is raised in. If the parents have tried resources like speech therapy, physical therapy, and occupational therapy, the child’s “quality of life” is likely to be better than a child simply neglected. Typically, in America, a child with DS is more likely to be comfortable and happy because American families have more access to programs and therapy, and are more likely to keep a special-needs kid. In other countries, a child may be more frequently given up for adoption, or be sent through government-funded programs which in most countries, don't take very good care of the child. Because most DS kids have slight to severe mental retardation, most have a "helper" or nurse to help them get through the day.

How can the disorder be treated?


       Putting DS kids through programs like speech therapy, physical therapy and occupational therapy can help them develop social skills and muscle tone that they need to survive. Also, DS children may be helped by extra attention throughout school. Physical therapy will help develop muscle tone and fine-tune motor skills. Speech therapy and extra help in school will help DS kids get used to the “real world” and to develop social skills. Occupational does much the same thing; a DS kid is simply guided through daily activities (occupations) by a trained professional. 

What is the life expectancy of someone with the disease?

A DS person’s life expectancy is directly correlated to the set of skills they’ve acquired and the environment they are in. There is no life expectancy set in stone because it varies from patient to patient.

What are the physical symptoms of the disease?

Some of the distinctive facial features of a DS kid include: flat face, upwardly slanted eyes, small hands and feet, low muscle tone, abnormally shaped ears, a short neck, white spots on the irises, and a deep crease in the palm of the hand. Most DS kids are also at risk for several other health problems like cataracts, slight to severe mental retardation, skeletal problems, celiac disease*, and a couple others.
*Celiac disease is a gluten allergy that often shows up during early infancy. The child’s immune system reacts to the gluten, and messes with its gut and causes digestive problems and general discomfort. Celiac can also cause weight loss.

How is the disease diagnosed?


       A child with DS has very distinctive facial features, so a trained professional would easily to be able to diagnose a child. You can confirm this diagnosis by making a karyotype. If the karyotype shows that the 21st chromosome pair has an extra chromosome, you know 100% positively that the child has Down’s Syndrome.

What are the chances of a person with this disease passing the disease to their offspring?

 If a couple has a child with Down’s Syndrome, the couples next child has a dramatically increased chance of acquiring the disorder. Most Down’s Syndrome patients do not reproduce once they reach adulthood, because most DS males are considered sterile, where the DS females are indeed fertile. In most cases, the disorder is not "passed on", although in certain rare types of DS, that can happen.

How prevalent is the disorder in the population?

A baby’s chances of having DS increase as their mother’s age does. However, a woman of any age can produce a child with this disorder. For women around the age of 25, about one in every 1250 babies are born with Down’s Syndrome. For a woman around the age of 40, her baby’s chances of having DS increase to about 1 out of every 100.
       Here's a chart:
20
1 in 1,600
25
1 in 1,300
30
1 in 1,000
35
1 in 365
40
1 in 90
45
1 in 30

What is Down's Syndrome? What is the chromosomal abnormality?


1.   Since Down's Syndrome is a chromosomal disorder, there is an abnormality in the makeup of the chromosome pairs. In this case, there is an extra chromosome on the 21st pair, which leaves the child with 47 total chromosomes instead of 46. 

How does a person inherit this genetic disorder? Is it dominant or recessive? Is it genetic or chromosomal?

 Down’s syndrome, also called “Trisomy 21” is a genetic disorder that causes developmental delays and distinctive features in children. Down’s Syndrome is a chromosomal, autosomal disorder, making it is neither recessive nor dominant.

What is a genetic counselor?


A genetic counselor is a health professional that works with children with genetic diseases and their families. The job may include making pedigrees and tracing genetic diseases back in a family, helping a family cope with their diagnosed child, help the diagnosed child make decisions relating to their disease, and help families get in to state-funded support services.