Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46.
Causes, incidence, and risk factors
In most cases, Down syndrome occurs when there is an extra copy of chromosome 21. This form of Down syndrome is called Trisomy 21. The extra chromosome causes problems with the way the body and brain develop.
Down syndrome is one of the most common causes of human birth defects.
Down syndrome symptoms vary from person to person and can range from mild to severe. No matter the severity of the condition, persons with Down syndrome have a widely-recognized appearance.
The head may be smaller than normal and abnormally shaped. For example, the head may be round with a flat area on the back. The inner corner of the eyes may be rounded instead of pointed.
Persons with Down syndrome need to be closely screened for certain medical conditions. They should have:
Eye exam every year during infancy
Hearing tests every 6 to 12 months, depending on age
Dental exams every 6 months
X-rays of the upper or cervical spine between ages 3 and 5 years
Pap smears and pelvic exams beginning during puberty or by age 21
Thyroid testing every 12 months
There is no specific treatment for Down syndrome. A child born with a gastrointestinal blockage may need major surgery immediately after birth. Certain heart defects may also require surgery.
When breast-feeding, the baby should be well supported and fully awake. The baby may have some leakage because of poor tongue control. However, many infants with Down syndrome can successfully breast-feed.
Obesity can become a problem for older children and adults. Getting plenty of activity and avoiding high-calorie foods are important. Before beginning sports activities, the child's neck and hips should be examined.
Behavioral training can help people with Down syndrome and their families deal with the frustration, anger, and compulsive behavior that often occur. Parents and caregivers should learn to help a person with Down syndrome deal with frustration. At the same time, it is important to encourage independence.
Adolescent females and women with Down syndrome are usually able to get pregnant. There is an increased risk of sexual abuse and other types of abuse in both males and females. It is important for those with Down syndrome to:
Be taught about pregnancy and taking the proper precautions
Learn to advocate for themselves in difficult situations
Be in a safe environment
If the person has any heart defects or other heart problems, antibiotics may need to be prescribed to prevent a heart infection called endocarditis.
Special education and training is offered in most communities for children with delays in mental development. Speech therapy may help improve language skills. Physical therapy may teach movement skills. Occupational therapy may help with feeding and performing tasks. Mental health care can help both parents and the child manage mood or behavior problems. Special educators are also often needed.
Although many Down syndrome children have physical and mental limitations, they can live independent and productive lives well into adulthood.
About half of children with Down syndrome are born with heart problems, including atrial septal defect, ventricular septal defect, and endocardial cushion defects. Severe heart problems may lead to early death.
Persons with Down syndrome have an increased risk of certain types of leukemia, which can also cause early death.
The level of intellectual disability varies, but is usually moderate. Adults with Down syndrome have an increased risk of dementia.
American College of Obstetricians and Gynecologists Committee on Practice Bulletins. ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007;109:217-227.
Bacino CA, Lee B. Cytogenetics. In: Kliegman RM, Stanton BF, St. Geme JW III, et al., eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa.: Elsevier Saunders; 2011:chap 76.
Davidson MA. Primary care for children and adolescents with Down syndrome. Pediatr Clin North Am. 2008;55:1099-1111.
Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.