By: Ralph Gomez DOWN SYNDROME
WHAT IS DOWN SYNDROME? • A chromosomal disorder caused by an error in cell division that results in an extra 21st chromosome • Impairments in both cognitive ability and physical growth that range from mild to moderate developmental disabilities • Mothers who are 44 years of age, about 1 in 35 pregnancies, results in a baby with Down syndrome • Younger women generally have more children, about 75 - 80%, with Down syndrome
WHAT CAUSES DOWN SYNDROME? The most common form of Down syndrome is known as Trisomy 21, a condition where individuals have 47 chromosomes in each cell instead of 46. This is caused by an error in cell division called non-disjunction, which leaves a sperm or egg cell with an extra copy of chromosome 21 before or at conception. Trisomy 21 accounts for 95% of Down syndrome cases, with 88% originating from non-disjunction of the mother's egg cell. Five percent of Down syndrome cases are due to conditions called mosaicism and translocation. Mosaic Down syndrome results when some cells in the body are normal while others have Trisomy 21. Robertsonian translocation occurs when part of chromosome 21 breaks off during cell division and attaches to another chromosome (usually chromosome 14). The presence of this extra part of chromosome 21 causes Down some syndrome characteristics.
HOW IS DOWN SYNDROME DIAGNOSED? Prenatal screenings estimate the chance of the fetus having Down syndrome. These tests do not tell you for sure whether your fetus has Down syndrome; they only provide a probability. Diagnostic tests, on the other hand, can provide a definitive diagnosis with almost 100% accuracy. The diagnostic procedures available for prenatal diagnosis of Down syndrome are chorionic villus sampling (CVS) and amniocentesis. Amniocentesis is usually performed in the second trimester between 15 and 22 weeks of gestation, CVS in the first trimester between 9 and 14 weeks. Amniocentesis and CVS are also able to distinguish between these genetic types of Down syndrome: trisomy 21, translocation Down syndrome, and mosaic Down syndrome.
TREATMENTS Because there is no cure, the goals of Down syndrome treatments are to control symptoms and manage any resulting medical conditions. This includes regular checkups and screenings, medications, and surgery. Counseling and support groups are also aspects of treatment for those who need help in coping with the emotional and practical aspects of Down syndrome.
DOWN SYNDROME PROGNOSIS Several factors affect a person's Down syndrome prognosis, including other medical conditions that can occur because of this developmental disability. Some of these medical conditions include congenital heart disease, thyroid problems, leukemia, and hearing problems. In 1929, the average life span of a person with Down syndrome was nine years. Today, it is common for a person with Down syndrome to live to age 50 and beyond.
EDUCATIONAL SERVICES When a child with Down syndrome reaches school age, the public school system becomes responsible for educating the child and for addressing the child’s unique needs related to his or her disability. Parents and school personnel will work together to develop what is known as an Individualized Education Program (IEP) for the child. The IEP is similar to an IFSP in that it describes the child’s unique needs and the services that will be provided to meet those needs. The IEP will include annual goals for learning and much more. Teachers find it more effective to emphasize concrete concepts with a student who has Down syndrome, instead of abstract ideas. Teaching skills in a step-by-step fashion with frequent reinforcement and consistent feedback has proven successful. Other suggestions for teachers are given on the last page of this fact sheet. Today, the majority of children with Down syndrome are educated in a general education classroom.
QUESTIONS? Thank you for coming today! Below are some more resources you can use! Raising Special Kids (602) 263-8856 www.raisingspecialkids.org Phoenix Children's Hospital (602) 933-1000 www.phoenixchildrens.com S.E.E.K Arizona (480) 902-0771 www.seekarizona.org The Up Side Of Downs www.theupsideofdowns.org Down Syndrome Research and Treatment Foundation www.dsrtf.org Down Syndrome Research Foundation www.dsrf.org