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About Down Syndrome

If you are pregnant and have a positive screening for Down syndrome, or you have recently had a child with Down syndrome please contact us for more information.

 

Understanding a Down Syndrome Diagnosis – Multiple Languages

What is Down syndrome?

In every cell in the human body there is a nucleus, where genetic material is stored in genes.  Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes.  Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21.

This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. A few of the common physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm – although each person with Down syndrome is a unique individual and may possess these characteristics to different degrees, or not at all.

There are three types of Down syndrome trisomy 21 (nondisjunction) accounts for 95% of cases, translocation accounts for about 4%, and mosaicism accounts for about 1%.

The cause of the extra full or partial chromosome is still unknown. Maternal age is the only factor that has been linked to an increased chance of having a baby with Down syndrome resulting from nondisjunction or mosaicism.  There is no definitive scientific research that indicates that Down syndrome is caused by environmental factors or the parents’ activities before or during pregnancy.   The additional partial or full copy of the 21st chromosome which causes Down syndrome can originate from either the father or the mother. Approximately 5% of the cases have been traced to the father

 

 

Down Syndrome Facts

  • Down syndrome occurs in 1 out of 691 live births.
  • Down syndrome occurs in people of all races and economic levels.
  • Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21. This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome.
  • More than 400,000 people living in the United States have down syndrome.
  • The incidence of births of children with Down syndrome increases with the age of the mother. But due to higher fertility rates in younger women, 80% of children with Down syndrome are born to women under 35 years of age.
  • Life expectancy for people with Down syndrome has increased dramatically in recent decades – from 25 in 1983 to 60 today.
  • In adulthood, many people with Down syndrome hold jobs, live independently,have meaningful relationships, vote and contribute to society.
  • There are three types of Down syndrome: trisomy 21 (nondisjunction) accounts for 95% of cases, translocation accounts for about 4%, and mosaicism accounts for about 1%.
  • People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer’s disease, childhood leukemia and thyroid conditions. Many of these conditions are now treatable, so most people with Down syndrome live healthy lives.
  • A few of the common physical traits of Down syndrome are: low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm. Every person with Down syndrome is a unique individual and may possess these characteristics to different degrees or not at all.
  • All people with Down syndrome experience cognitive delays, but the effect is usually mile to moderate and is not indicative of the many strengths and talents that each individual possesses.

 

 

A Diagnosis & A Bright Future

Whether a parent learns his or her child will have a disability through a prenatal diagnosis or after the child’s birth does not lessen the initial shock.  Parents should expect to feel a wide range of emotions while seeking support from optimistic healthcare professionals. The Future is bright!

  • All people with Down syndrome experience cognitive delays, but the effect is usually mild to moderate and is not indicative of the many strengths and talents that each individual possesses.
  • People with Down syndrome attend school, work, participate in decisions that affect them, and contribute to society in many wonderful ways.
  • Quality education programs, a stimulating home environment, good health care, and positive support form family, friends and the community enable people with Down syndrome to develop their full potential and lead fulfilling lives.

 

 

Preferred Language Guide

  • People with Down syndrome should always be referred to as people first

-instead of saying “a Down syndrome child”  say a child with Down syndrome.

-avoid describing the child or condition as “Down’s”

  • Down syndrome is a condition or a syndrome, not a disease.
  • People with Down syndrome do not “suffer from” or  are “afflicted by” it.
  • “Typically developing” or “typical” is preferred over “normal”.
  • “Intellectual disability” or “cognitive disability” has replaced “mental retardation” as an acceptable term.
  • The word “retarded” or commonly referred to as “the “r” word” is not to be used.  Using this word is hurtful!
  • The preferred spelling is “Down syndrome” rather than “Down’s Syndrome”