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Resources by Disability
Down Syndrome (DS)
Definition: Down Syndrome (DS) is a congenital condition that causes mental and physical developmental delays. DS affects approximately 1 in every 800 infants in the United States.
Symptoms: Common symptoms of DS include low muscle tone, hyperflexible joints, malformation of the spine, and mild to moderate mental impairment. Medical problems associated with DS vary in type and severity. Children with DS may be at greater risk of developing a congenital heart defect, pulmonary hypertension, childhood leukemia, respiratory infections, diabetes, dental disease, sleep apnea, thyroid diseases, gastrointestinal abnormalities, seizures, and vision and hearing loss.
Cause: DS is caused by the formation of extra genetic material, resulting from an error in cell division near the time of conception. This chromosomal error occurs more commonly in women over the age of 35.
Diagnosis: Prenatal screenings and diagnostic tests can detect DS in the fetus. Screenings calculate the risk of having a baby with DS, by testing the mother’s blood for certain markers and assessing her age and the age of the fetus. Diagnostic tests involve a more invasive and costly procedure, but are 99% effective at detecting DS in the fetus. To diagnose DS in newborn infants, physicians perform a karyotype test, which reveals the size, shape, and number of chromosomes in a sample of body cells.
Treatment: It is highly recommended that children with DS be enrolled in early-intervention services, including physical, occupational, and speech therapy. There are also medications that can treat related conditions.
Myth: A common misconception about DS is that it is a progressive condition. In truth, DS symptoms do not worsen over time, and the majority of patients live an average life span. While they are at greater risk of developing other conditions, most are treatable. For example, 30-40% of people with DS are born with heart defects and other congenital irregularities, but most of these conditions are surgically correctable.
Notable People with DS:
- Chris Burke , an American actor.
Support Groups:
Down Syndrome Interest Group of Delaware County
1037 Westwood Drive P.O. Box 226
Springfield PA 19064
Tel: (610) 544-4025
Email: delcodsig@yahoo.com
Down Syndrome Parent Network
3626 Church Road
Easton PA 18045
Tel: (610) 432-DSPN (3776)
Email: webmaster@dspn.org
Website: http://www.dspn.org
Bringing Up Downs Syndrome (BUDS)
P.O. Box 1085
Marlton NJ 08053
Tel: (856) 985-5885
Email: information@bringingupdownsyndrome.org
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