Down Syndrome

What causes Down syndrome?

Down syndrome is usually not inherited, but rather happens by chance. It is not known for sure why Down syndrome occurs or how many factors play a role. However, there are factors that increase the risk of having a baby with Down syndrome. One is the age of the mother; women age 35 and older are more likely to have a baby with Down syndrome.

Symptoms of Down syndrome

Down syndrome affects every person differently. However, common symptoms include mild to moderate intellectual disabilities and developmental delays.

Some of the common physical signs of Down syndrome include:

• A flat face
• Eyes that slant up
• A short neck
• Small hands and feet
• Poor muscle tone
• Loose joints

Diagnosing Down syndrome

There are two basic types of tests that help detect Down syndrome during pregnancy:

• Prenatal screening test: This test can determine whether an unborn baby has a higher or lower chance of having Down syndrome, but it does not provide an absolute diagnosis.
• Prenatal diagnostic test: This test can typically detect whether or not a baby will have Down syndrome by checking the chromosomes in a sample of cells.

After birth, the physical signs of Down syndrome can lead to an initial diagnosis, with further testing used to confirm the diagnosis.

Conditions and disorders commonly associated with Down syndrome

Down syndrome affects every person differently. In addition to intellectual disabilities and developmental delays, people with Down syndrome are at an increased risk for certain health problems, including:

• Vision problems, including cataracts (clouding of the eye lens), near-sightedness, "crossed" eyes, and rapid, involuntary eye movements
• Hearing loss
• Frequent ear infections
• Sleep apnea (a disorder that causes you to repeatedly stop breathing during sleep)
• Eye diseases
• Congenital heart defects (heart defects present at birth)
• Digestive problems ranging from structural defects in the digestive system or its organs, to problems digesting certain types of foods or food ingredients
• Problems with the upper part of the spine
• Poor muscle tone (hypotonia)
• Obesity
• Hypothyroidism (where the thyroid makes little or no thyroid hormone)
• Blood disorders such as leukemia, anemia (low iron in the blood) and polycythemia (high red blood cell levels)
• Disrupted sleep patterns and sleep disorders, including obstructive sleep apnea (a disorder that causes you to repeatedly stop breathing during sleep)
• Gum disease and dental problems
• Epilepsy (a condition characterized by seizures)
• Mental health and emotional problems, including anxiety, depression and attention-deficit/hyperactivity disorder (ADHD)

People with Down syndrome are also much more likely to die from untreated and unmonitored infections. Down syndrome often causes problems in the immune system that can make it difficult for the body to fight off infections, so even seemingly minor infections should be treated quickly and monitored continuously. Caregivers also should make sure that children with Down syndrome receive all recommended immunizations to help prevent certain infections.

Care and support for people with Down syndrome and their families

The LVPG Down Syndrome Medical Clinic–Trexlertown is an invaluable resource for people with Down syndrome and their families, providing them with the special kind of medical care and extensive support they need and deserve.

Originally founded by the Eastern Pennsylvania Down Syndrome Center (EPDSC) and now part of LVHN, the LVPG Down Syndrome Medical Clinic operates collaboratively with the EPDSC as a source of education, support, guidance, advocacy and fundraising for the population it serves. Providing comprehensive, multidisciplinary and holistic care to people with Down syndrome and their families, the clinic expands access to specialized treatments and allows patients and families to receive world-class care from doctors and therapists they can trust.

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