Down syndrome is the most common chromosomal variation, occurring in approximately 1 in 800 births. In the
Down syndrome is a chromosomal variation involving the 21st chromosome which occurs during cell division. A person with Down syndrome has three copies of the 21st chromosome rather than the usual two copies. Three copies of the 21st chromosome is also known as Trisomy 21. In some rarer instances, known as translocation, instead of a whole copy of the 21st chromosome, a person may just have an extra piece of it attached to another chromosome. The cause of the extra genetic material is still unknown. What we do know is that it is not caused by environmental factors or anything the mother does before or during her pregnancy.
Development and Appearance:
The extra genetic material found in individuals with Down syndrome affects both development and appearance in a variety of ways. The term “syndrome” refers to the association of several clinically recognizable features, signs (observed by a physician), symptoms (reported by the patient), phenomena or characteristics that often occur together, so that the presence of one feature alerts the physician to the presence of the others.
Some of the physical traits common to people with Down syndrome include: low muscle tone, a flat facial profile, a small nose, an upward slant to the eyes, a single deep crease across the center of the palm, an excessive ability to extend the joints, small skin folds on the inner corner of the eyes, excessive space between large and second toe. Not all individuals with Down syndrome have all these characteristics, and many of these features can be found, to some extent, in individuals who do not have the condition.
Today, more than 95% of individuals with Down syndrome have a mild to moderate intellectual disability and less than five percent of individuals have severe to profound intellectual disabilities. Having an intellectual disability means that a person learns more slowly and benefits from different strategies and mechanisms for learning. Individuals with Down syndrome also experience delays in speech and language development.
While the extra genetic material affects a person’s development and appearance, it is important to realize that it is not a blueprint that determines his or her potential. It is unfair and impossible, either prior to birth or early in life, to determine any person's future abilities, strengths or weaknesses. Likewise, there is no correlation between physical characteristics and cognitive abilities.
As is true for all people, individuals with Down syndrome are lifelong learners and the skills and knowledge he or she acquires will be a unique combination of innate abilities and life experiences. Just like their peers, they attend school, develop friendships, maintain jobs, have relationships, participate in important personal decisions and make positive contributions to the community. It is important to remember that an individual with Down syndrome has 46 other completely “typical” chromosomes and are more alike their “typical” peers than different. Therefore, individuals with Down syndrome deserve the same opportunities.
Individuals with Down syndrome may have a greater incidence of certain health complications than that of the average person. Healthcare guidelines are in place to help facilitate medical assessments and early detection for effective treatments.
Words can create barriers, reinforce stereotypes and perpetuate negative attitudes. The Anne Arundel County Down Syndrome Connection strongly believes in the importance of ensuring that correct language is used when talking or writing about individuals with Down syndrome.
Individuals with Down syndrome are people first. The emphasis should be on the individual, not the disability. For example; a baby/child/adult “with Down syndrome”, not “Down syndrome” child or “Downs baby.” A person with Down syndrome is not “suffering from,” “a victim of” or “afflicted with” Down syndrome. Down syndrome is not a disease and is not contagious; these references only diminish a person’s dignity and ignores the individual. Suggestions include “living with Down syndrome” or “has a diagnosis of Down syndrome.”
Also, there is no apostrophe “s” added to the word “Down.” In English grammar, adding an apostrophe indicates ownership. Dr. John Langdon Down was the first physician to provide the formal description of the syndrome, but Dr. Down did not have Down syndrome and thus no possessive is used. Also, the “s” in syndrome is not capitalized. Some other countries still continue to use “Down’s.”
People with Down syndrome have the same rights as everyone else and should be treated with respect.
Down syndrome is a chromosomal arrangement that is present at conception. The term “birth defect” is not correct.
Avoid generalizing people with Down syndrome as “always loving”, “always smiling”, or “perpetually happy.” People with Down syndrome are not all alike and have feelings and dreams. The diversity of abilities and characteristics among individuals with Down syndrome is comparable to that of the general population.