Down Syndrome

 Down Syndrome is present because there is a trisomy of the 21 st chromosome. Trisomy-21 is an extra copy of chromosome number 21.  Down syndrome is not inherited. It occurs as a random event during the formation of reproductive cells in a parent. What Type Of Genetic Disorder Is Down Syndrome?

Symptoms and Effects of Down Syndrome Symptoms and effects of Down Syndrome include:  Smaller head  Flattened nose   Large tongue  Slanted eyes  Growth Retardation and Mental Retardation  Shorter than average  Obesity  Shorter average lifespan (49 years compared to 78 years)  Higher chance of heart problems  Slow muscle growth  Heart defects  Constipation  Depression

Symptoms and Effects of Down Syndrome  ADHD  Autism  Eye conditions  Hearing problems

Diagnosis of Down Syndrome Tests used to diagnose Down Syndrome Screening tests  Combined first trimester screen (82-87% accurate)  Second trimester triple screen (69% accurate)  Second trimester quad screen (81% accurate)  Integrated screening ( 94-96% accurate) cell-free DNA (cfDNA) screening (unknown accuracy, but may be more accurate than all the other tests!)

Prognosis  Average life span 49 years instead of 78 years.  Many parents feel crushed when they find out their newborn baby has the disorder.  Children with Down syndrome may struggle with depression, and may also have growth and mental retardation over the course of their lives.

Treatments Down Syndrome, like many other birth disorders cannot be cured, only treated. Health professionals, such as special educators and social workers, can make a Down Syndrome child’s life much better. But they are still at a higher risk for diseases from birth, and may require immediate care right after birth. They may also need physical therapy to strengthen their muscles and speech therapy to be able to speak properly.

Research Facility Stanford University is working on trying to understand the process of acquiring knowledge through thoughts and the senses with down syndrome. The Stanford Medicine Down Syndrome Research Center helps families to feel happy with Down Syndrome and is looking for ways to identify the disease. The students contribute to knowledge that enables development of programs that help academic, social, health and language development.

Down Syndrome Success Story: Maria and Erin Dellapina Erin Dellapina, the daughter of Maria Dellapina, a single mother of 4, has Down Syndrome, and like 87% of kids with the disorder, she needed glasses. But because of her flatter nose, a result of Down Syndrome, normal glasses wouldn’t stay on her head. The alternative was a pair of large, ugly glasses with a strap on the back, and Maria wanted Erin to feel comfortable wearing glasses. She made designs for Down Syndrome glasses, but no one understood them, and after she missed some work to take care of Erin, who was ill at the time, she was fired. At a later job interview, she had to go pick up Erin, and didn’t get the job, and another time the same thing happened. But eventually a manufacturer liked the design, and Specs4Us was created. It provides stylish glasses for children and adults with Down Syndrome called Erin’s World!

Sources  Schueler, Stephen J., MD “Symptoms” Trisomy Mar  “Treatment” Understanding Down Syndrome 30 Mar treatment?page=1#0  “Research overview” Stanford Medicine 1 Apr  “Homepage” Down Syndrome Research Foundation 3 Apr  “Common treatments” National Institute of Child Health 5 Apr eatments.aspx eatments.aspx  "Working Mother” A Clear Vision: Maria Dellapina 20 Mar