ERIC Identifier: ED304819
Publication Date: 1988-00-00
Author: Manfredini, Dianne
Source: ERIC Clearinghouse on Handicapped and Gifted Children Reston VA.
Down Syndrome. ERIC Digest #457.
The term Down syndrome is taken from the name of the English physician, Dr. John Langdon Down, who is credited with first describing the condition in 1866. It was not until 1959 that the actual chromosomal abnormality associated with the syndrome was discovered. Dr. Jerome Lejuene found that individuals with Down syndrome possessed additional genetic material in their cells, usually an extra chromosome. Instead of having 46 chromosomes in each cell (22 pair of autosomes or non-sex chromosomes and one pair of sex chromosomes, xx in females, xy in males), individuals with Down syndrome most commonly have 47 chromosomes with the extra chromosome associated with the 21st pair. The term Trisomy 21 is therefore used to describe this configuration of three #21 chromosomes. About 95% of all individuals with Down syndrome have Trisomy 21.
WHAT ARE THE CHARACTERISTICS OF INDIVIDUALS WITH DOWN SYNDROME?
Some of the physical characteristics observed in persons with Down syndrome include the following: the back of the head is often flattened, the eyelids may be slightly slanted, small skin folds at the inner corners of the eyes may be present, the nasal bridge is slightly depressed, and the nose and ears are usually somewhat smaller. In the newborn there is often an excess of skin at the back of the neck. The hands and feet are small and the fingerprints are often different from chromosomally normal children.
Individuals with Down syndrome have loose ligaments and their muscle strength and tone are usually reduced. If the ligaments between the first two neck bones are loose, there may be a condition referred to as Atlanto-Axial Instability. About one-third of children with Down syndrome have congenital heart disease. Other congenital defects such as blockage in the bowels and cataracts, although rare, may also be present. Hearing deficits, visual problems, and thyroid dysfunction are often observed in persons with Down syndrome.
WHAT CAUSES DOWN SYNDROME?
HOW OFTEN DOES DOWN SYNDROME OCCUR/RECUR?
HOW DOES DOWN SYNDROME AFFECT DEVELOPMENT?
Since mental retardation frequently occurs in children with Down syndrome, higher integrative abilities such as the ability to think abstractly and to form concepts are likely to be affected. However, appropriate educational programs have demonstrated impressive successes in teaching functional academic skills as well as critical self-help and daily living skills. Most individuals with Down syndrome learn to care for themselves and function within a community. With appropriate training, they can secure employment, often in the competitive job market, especially through supported work programs.
WHAT SHOULD BE INCLUDED IN EDUCATION PROGRAMS?
The content of the school program should be closely aligned to the child's immediate needs and prior experiences. The curriculum should focus on communication skills, social skills, self-help skills, motor development, coping successfully with the physical environment, the enrichment of sensory experiences, functional academics, and daily living skills. It should be organized around long-term skill sequences designed to facilitate the acquisition of necessary independent functioning skills. As an adult, the individual should have the skills necessary to live in the community and secure vocational training or employment.
Rates of development vary from individual to individual; however, as with any person, education, stimulation, and the opportunity to participate in a variety of experiences facilitate all areas of development and assist the individual in becoming more able to deal with the daily environment in a meaningful way.
CAN DOWN SYNDROME BE DIAGNOSED BEFORE BIRTH?
Association for Retarded Citizens-United States, P. O. Box 6109, Arlington, TX 76005 (1-800-433-5255).
National Down Syndrome Congress, 1800 Dempster Street, Park Ridge, IL 60068-1146 (1-800-232-6372) (312-823-7550).
National Down Syndrome Society, 141 5th Avenue, New York, NY 10010 (212-460-9330).
The National Information Center for Handicapped Children and Youth, Park Place Bldg., Suite 1100, 7926 Jones Branch Drive, McLean, VA 22101 (703-893-6061).
Down Syndrome: A Resource Handbook (1988), by Carol Tingey, Editor. College Hill/Little Brown, 4284 41st Street, San Diego, CA 92105.
An Overview of Down Syndrome (1986) by Siegfried M. Pueschel. Available for $3.00 from ARC-United States, P. O. Box 6109, Arlington, TX 76005.
The Young Person with Down Syndrome: Transition from Adolescence to Adulthood (1988), by Siegfried M. Pueschel, Editor. Paul H. Brookes Publishing Company, P. O. Box 10624, Baltimore, MD 21285.