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. However, children 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 - 12 months, depending on age
Dental exams every 6 months
X-rays of the upper or cervical spine between ages 3 - 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 problems, check with the physician about the need for antibiotics to prevent heart infections 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.
Persons with Down syndrome are living longer than ever before. Although many 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 for certain types of leukemia, which can also cause early death.
The level of intellectual disability varies from patient to patient, but is usually moderate. Adults with Down syndrome have an increased risk for dementia.
A health care provider should be consulted to determine if the child needs special education and training. It is important for the child to have regular check ups with his or her doctor.
Experts recommend genetic counseling for persons with a family history of Down syndrome who wish to have a baby.
A woman's risk of having a child with Down syndrome increases as she gets older. The risk is significantly higher among women age 35 and older.
Couples who already have a baby with Down syndrome have an increased risk of having another baby with the condition.
Tests such as nuchal translucency ultrasound, amniocentesis, or chorionic villus sampling can be done on a fetus during the first few months of pregnancy to check for Down syndrome. The American College of Obstetricians and Gynecologists recommends offering Down syndrome screening tests to all pregnant women, regardless of age.
ACOG Committee on Practice Bulletins. ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007 Jan;109(1):217-227.
AAP Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 2001 Feb;107(2):442-449.
Davidson MA. Primary care for children and adolescents with Down syndrome. Pediatr Clin North Am. 2008;55:1099-1111.
Simpson JL, Otaño L. Prenatal genetic diagnosis. In: Gabbe SG, Niebyl JR, Simpson JL, eds. Obstetrics:Normal and Problem Pregnancies. 5th ed. Philadelphia, Pa: Elsevier Churchill Livingstone; 2007:chap 7.
A.D.A.M. Health Solutions, Ebix, Inc., Health Solutions: David Zieve, MD, MHA, David R. Eltz, Stephanie Slon, and Nissi Wang. Previousy reviewed by Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine (5/16/2012).