Down syndrome

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Trisomy 21

There is no specific treatment for Down syndrome. Special education and training is offered in most communities for mentally handicapped children. Specific heart defects may require surgical correction. The potential for visual problems, hearing loss, and increased susceptibility to infection will require screening and treatment at appropriate intervals.

National Down Syndrome Congress -- www.ndsccenter.org

The normal life span is shortened in Down syndrome by congenital heart disease and by increased incidence of acute leukemia. Mental retardation is variable, and usually moderate. Some adults live independently and are accomplished individuals.

• Vision problems
• Hearing loss
• Cardiac abnormalities
• Increased incidence of acute leukemia
• Frequent ear infections and increased susceptibility to infection in general
• Gastrointestinal obstruction (imperforate anus, and similar problems)
• Esophageal atresia or duodenal atresia
• Blocked airways during sleep (one third of patients)
• Increased incidence of dementia in older patients
• Instability of the back bones at the top of the neck, compression injury of the spinal cord

There is a risk that uninformed people may assume a Down syndrome child is more retarded than is the case.

A geneticist should be consulted to help determine the diagnosis and interpret rare chromosomal translocation cases of Down syndrome.

The health care provider should be consulted to evaluate the child for the need for special education and training. The need for follow-up of physical problems varies.

Review Date: 04/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.