Presented By: Myia Williams Nicole Martin Whitney Washington Down Syndrome

Cause Down syndrome is a chromosomal disorder. It is due to an individual having an extra copy of chromosome 21. The extra chromosome can be full or partial.

Having Down syndrome places individuals at a much higher risk for several other health concerns. Congenital Heart Disease Neurological Complications (e.g.Alzheimer’s disease) Hematologic Malignancies (e.g. leukemia) Gastrointestinal Issues (e.g. Hirschsprung’s disease) Thyroid Disorders Infertility Eye and Ear Disorders

Testing & Diagnostics The most effective way to determine if an individual has Down syndrome is through the process of screening, especially prenatal screening. Invasive: instrument inserted into the uterus to obtain samples Chorionic villus sampling (CVS) Amniocentesis Non-Invasive: other measures used to obtain samples Percutaneous umbilical cord blood sampling (PUBS)

Screenings/genetic testing can be done on couples that desire to have children to determine their risk for having a child with Down syndrome. Prenatal screenings can be conducted to determine if an embryo has Down syndrome, but has been linked to a high rate of abortion among those that are found to have the disorder.

Each individual’s treatment and management of Down syndrome is different and based on the level of severity including but not limited to the following: Examinations for health complications at earlier ages Earlier diagnosis and treatment reduces negative effects Early Childhood Intervention (ECI) Trained professionals are able to assist with learning and development Physical Therapy/Adapted Physical Education Helps in motor skill development

Lott, I., & Dierssen, M.. (2010). Cognitive deficits and associated neurological complications in individuals with Down's syndrome. The Lancet Neurology, 9(6), Retrieved September 17, 2010, from ProQuest Health and Medical Complete. (Document ID: ). Shamloo, M., & Belichenko, P.. (2010). Comprehensive behavioral assays to enhance phenotype to genotype linkages and therapeutic screening in mouse models of Down syndrome. Future Neurology, 5(4), Retrieved September 17, 2010, from ProQuest Health and Medical Complete. (Document ID: ). Chandel, D.. (2010). NUCLEOLUS ORGANIZING REGION AS AN ETIOLOGICAL FACTOR IN DOWN SYNDROME. Journal of Cell and Tissue Research, 10(1), Retrieved September 17, 2010, from ProQuest Health and Medical Complete. (Document ID: ). Down Syndrome. (2010, September). Retrieved from