What is Down Syndrome?
Down syndrome is a genetic condition which is the most commonly occurring chromosomal condition. It occurs in 1 out of every 691 births and affects people of all races and economic levels. Typically, babies receive 23 chromosomes from their mother and 23 from their father. A baby with Down syndrome, for unknown reasons, will have three copies of the 21st chromosome instead of two. That is why Down syndrome is also called Trisomy 21. Every cell will contain 47 instead of the typical 46 chromosomes.
There are also two other forms of Down syndrome which are quite rare – mosaic and translocation. This extra genetic material will affect a baby's development, however, the baby has also inherited many physical and personality characteristics from his/her parents as well. A definitive diagnosis can only be made with a karyotype, which is a visual display of a baby's chromosomes. In the United States there are approximately 350,000 individuals living with Down syndrome. These individuals are active, vital members of their families and communities. A life with Down syndrome is a life well worth living.
Down syndrome is the most common survivable genetic difference affecting one in every 733 live births according to the U.S. Center for Disease Control and Prevention. “Trisomy 21” the most common type of DS is caused by an extra (third) copy of the 21st chromosome. The genes on the extra chromosome interact with other genes causing varying degrees of learning difficulties as well as physical disabilities. The learning difficulties or degree of intellectual disability can be mild to severe, but most commonly falls somewhere in the moderate area.
Down syndrome Trisomy 21
What are the physical characteristics of Down syndrome?
Individuals with Down syndrome have physical characteristics similar to a family or ethnic resemblance. Individuals with Down syndrome are also just that, individuals. The effects of the extra chromosome do not affect each person the exactly same. Some of the most common physical characteristics include:
Facial features: A person with Down syndrome’s face may be slightly broader with a flatter nasal bridge. Their eyes may appear to slant upward and have a small fold of skin on the inner corners called epicanthal folds. Their mouth may be small which might cause their tongue to appear large and poor muscle tone may cause the tongue to protrude. Their ears may be small, lower set on the head and tops may fold over.
Body: Babies with Down syndrome usually start out at average weight and length. As they grow individuals with Down syndrome often fall behind their typical peers. Adult males have an average height of 5 feet 2 inches and women reach about 41/2 feet. People with Down syndrome often have smaller hands and feet. The palm of their hands might have a single crease across it called a simian crease or a transverse palmar and the fifth finger may curve inward slightly.
What kind of life skills does a person with Down syndrome have?
Babies with Down syndrome usually participate in “early intervention” a program developed for an individual child that may include physical therapy, occupational therapy, speech therapy and more. Babies and toddlers with Down syndrome also benefit from community programs like Mommy and Me, play groups, swimming and music programs.
Children with Down syndrome are educated in many different ways. Some are included in the typical classroom with typical peers, sometimes with the help of a personal aid. Some may participate in a special education classroom on a typical school campus to enable them to have social and some class interaction with typical peers. Others are educated at a special education school with other peers with disabilities. Children with Down syndrome also participate in many extra-curricular programs; typical athletic programs that they are included in like karate and swimming and also in programs developed just for individuals with disabilities like Special Olympics and Challenger Little League. Some children with Down syndrome enjoy music and drama classes, visual arts instruction and computers.
Many adults with Down syndrome live independently or in supported living programs. Others choose to live with their parents for some time. Many individuals with Down syndrome have jobs, some work independently while others have job coaches to assist them. Some adults with Down syndrome prefer to attend day programs that can focus on activities such as academics, the arts, recreation and life skills Some adults with Down syndrome rely on parents and friends for transportation, some use public transit independently and a few are able to pass their state driving test and get a license. There are also opportunities for continued education for adults with Down syndrome in the form of post-secondary schools particularly focused on life skills and vocational training as well as taking classes offered at local community colleges. Most adults with Down syndrome have speech and can take care of their personal daily needs.
People with Down syndrome often find a lot of satisfaction in the activities that they participate in and experience. Most individuals with Down syndrome grow, learn and function well within the typical community. One area of strength for individuals with Down syndrome is their social skills which often exceed their academic achievements and help them to achieve a happy and productive life.
How do you write Down syndrome?
In the United States, it is written: Down syndrome. There is no possession to the Down. The characteristics of the syndrome were first identified by Dr. Landon Down. The syndrome does not belong to Dr. Down, so no “’s” follows his name. We do however capitalize Down since it refers to a name. The syndrome is written with a lower-case “s.” In the United Kingdom and some other countries, it is referred to as Down’s syndrome.