Kent Amstutz, D.O.
According to the National Down Syndrome Society, one in every 691 babies (approximately 6,000) in the United States is born with Down syndrome each year with approximately 400,000 Americans affected and living with the condition in the United States. It is important to spread awareness about the most common genetic condition.
Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21. This additional genetic material alters the course of normal development and causes the physical characteristics and health problems associated with the condition. Down syndrome occurs in people of all races and economic levels and although researchers know how Down syndrome is caused, no one knows why.
Trisomy 21 (nondisjunction) is the most common affecting about 95% of individuals,
Translocation Down syndrome affects about 3% of individuals and
Mosaic Down syndrome affects about 2% of individuals. All three types are genetic conditions but only about 1% of all cases have a hereditary component (passed from parent to child through the genes).
One factor that increases the risk for having a baby with Down syndrome is the mother's age. Women who are 35 years or older who become pregnant are more likely to have a pregnancy affected by Down syndrome than women who become pregnant at a younger age. However, 80% of babies with Down syndrome are born to mothers less than 35 years because there are more births among younger women.
Doctors can diagnose Down syndrome during pregnancy or after the baby is born. Prior diagnosis during pregnancy can allow parents and families to prepare for their baby's special needs.
Because almost half of babies born with Down syndrome have a heart defect, all newborns should receive an echocardiogram (an ultrasound picture of the heart) and consult with their physician.
One or more major birth defects or other medical problems include:
Less common health problems include:
Down syndrome is a lifelong condition and quality services are offered to improve and develop physical and intellectual abilities to the highest potential with programs focusing on speech, occupational and physical therapy. Many children may need extra help or attention in school growing up but are still able to attend regular classes with proper guidance.
Many individuals with Down syndrome can live independently, have jobs and lead productive lives well into adulthood. Seeing a physician regularly, connecting with friends and family and staying involved with the community is important for continued development. Life expectancy has increased dramatically in recent decades from 25 years in 1983 to 60 years presently. While individuals with Down syndrome do experience different cognitive delays, each is an individual and can contribute to society with their own individual traits they possess.