DownSyndrome By Grace Wohlberg Biology 200: Period 7 March 5, 2013
What is the name of the disorder? • Down Syndrome is the name of a condition in which extra genetic material causes delays in the way a child develops, both physically and mentally. • Another name for down syndrome is Trisomy 21
How is Down Syndrome inherited? • Down Syndrome is a chromosomal abnormality so it is not inherited. • Each chromosome should have one pair of chromosomes. • In the case of Down Syndrome, chromosome 21 has an extra chromosome
Can someone be a carrier of Down Syndrome? The vast majority of cases of down syndrome are not inherited. Only in cases of Translation Down Syndrome, and then in only 1 of 3 cases of this type of Down Syndrome, is the condition inherited. Although no one is considered a carrier of Down Syndrome, the disease is more common in older mothers since the egg cells used are not quite as high of quality as when she was younger.
What is the frequency of Down Syndrome? • Down Syndrome affects about 1 in every 800 babies born in the United States • The frequency of having a child with Down Syndrome increases as the mothers age increases • Of all of the women tested for Down Syndrome during pregnancy, about 5% are identified as being at risk
This graph shows the increased likelihood of having a child with Down Syndrome if the mother is older in age.
What are the symptoms/effects of someone with Down Syndrome? • Children with Down Syndrome tend to share certain physical features such as; • Flat facial profile • An upward slant to the eyes • Small ears and hearing loss • Protruding tongue • Larger than normal space between the big and second toe • Short, stubby fingers with one crease across the child’s palm
What is the prognosis of a person with Down Syndrome? • PROGNOSIS: • INFANT: • Approximately 25% of conceptions with Trisomy 21 (Down Syndrome) ends with a miscarriage or stillbirth • Approximately 85% of infants with Down Syndrome survive to 1 year of age • ADULT: • A person with Down Syndrome has an average lifespan of 50 years old • The average lifespan of a person with Down Syndrome in 1990 was 30 years old
Flat Facial Profile Short, stubby fingers Single crease along palm SlantedEyes Small ears and hearing loss Protruding Tongue Larger than normal space
How is Down Syndrome diagnosed? • Screening tests to diagnose Down Syndrome are taken during pregnancy by using an ultrasound or a blood test • During the first trimester doctors use an ultrasound to measure nuchal translucency and blood tests to measure PAPP-A. PAPP-A is a protein used in screening babies for Down Syndrome • During the second trimester (15-20 weeks out of 40 weeks of pregnancy) doctors use a quad screen that measures a mother’s blood level to look for four pregnancy-associated substances, alpha fetoprotein, estriol, HCG and ihibin A
What types of treatment are offered for people with Down Syndrome? • Since there is no cure, the goals of treating Down Syndrome is to control symptoms and manage any resulting medical conditions • Ways of treating people with Down Syndrome: • Regular check-ups • Screenings • Medications • Surgery • Counseling and support groups
Here is a picture of one of the medical treatments available to children with Down Syndrome.
Is there a cure for Down Syndrome? • There is no cure for Down Syndrome but there is help through therapy and learning to cope with the disease. • What are scientists doing to find out a cure? • Using genetically trained mice for Down Syndrome drug research • Genome mapping • Stem cell research • Making models to analyze development of the disease • Vitamin Therapy
Below is a link to a website article published in The Boston Globe in 2004. The article is titled: “Down syndrome 'cure' might be within reach of scientists” and is written by Carey Goldberg http://www.boston.com/yourlife/health/diseases/articles/2004/01/27/down_cure_might_be_within_reach/?page=full
Interesting Facts About Down Syndrome • Somewhere between 40-60% of babies with Down Syndrome will have hearing loss • Children with Down Syndrome usually have more difficulty learning because of the mental retardation that is usually present • Down Syndrome usually results from what is called non disjunction or failure of one pair of chromosomes to separate evenly during meiosis • Children with Down Syndrome can look forward to a great deal of independence in adulthood • Down Syndrome is one of the most common congenital disorders occurring in all race, ethnic groups, socio-economic classes and nationalities
WORKS CITED Downsyndrome.about.com Down-syndrome.emedtv.com/down-syndrome/treatment-for-down-syndrome Kumin, Libby. Early Communication Skills For Children With Down Syndrome: A Guide For Parents and Professionals. Maryland; Woodbine House, 2003. Print. Skallerup, Susan J. Babies With Down Syndrome: A New Parents’ Guide. Maryland: Woodbine House, 2008. Print. www.boston.com/yourlife/health/diseases/articles/2004/01/27/down_cure_might_be_within_reach/?page=full www.kidshealth/parent/medical/genetic www.mayoclinic.com/health/down-syndrome