American Medical Association Family Medical Guide - American Medical Association [664]
Many children with Down syndrome are small for their age and have delays in physical and mental development. They have some degree of mental retardation, with below-normal IQs ranging from 30 to 80. They tend to be friendly, good-natured, and affectionate, and get along well with others. Up to half of people with Down syndrome are born with congenital heart defects (see page 389). They may also have hearing loss and vision problems. Intestinal obstruction can occur shortly after birth. Children with Down syndrome are more susceptible to developing leukemia (see page 621), pneumonia (see page 660), and ear infections (see page 417) than are other children.
Diagnosis
The physical characteristics of children with Down syndrome are usually recognized by health professionals at birth, although they are often not noticeable to parents. A doctor can confirm the diagnosis with a blood test to detect the extra copy of chromosome 21. Down syndrome can also be diagnosed in a fetus during pregnancy. If a blood test called AFP triple screen (see page 510), which is offered to all pregnant women, shows an increased risk of Down syndrome in the fetus, the doctor will recommend amniocentesis (see page 510) to confirm the diagnosis. Prenatal testing by amniocentesis or chorionic villus sampling, or CVS (see page 511), is generally also offered to pregnant women 35 and older, whose age puts them at increased risk of having a child with Down syndrome. Doctors may also recommend amniocentesis or CVS to women who have a family history of Down syndrome.
Treatment
In most respects, raising a child with Down syndrome is the same as raising any other child. Take advantage of all the special educational services offered in your community to help your child reach his or her full potential. For example, enrolling your infant in an early childhood development program can help him or her achieve his or her full developmental potential. Children with Down syndrome usually can learn most of the basic childhood skills, although more slowly than other children. Work with your doctor to learn about the special educational needs of your child and the services that are available in your community to meet these needs. Children with Down syndrome benefit from attending regular schools, where they can interact with and learn from other children and receive the same level of stimulation.
Your child’s doctor will treat any physical complications of Down syndrome as they develop. Children with Down syndrome are at increased risk of instability in the neck region of their spine. For this reason, your child should have a neck X-ray at least once, especially before engaging in a new athletic activity, to make sure his or her spine is stable.
Turner Syndrome
Turner syndrome is a chromosome abnormality in which a female is born with a missing X chromosome (females normally have two X chromosomes). The missing chromosome affects the child’s physical and sexual development. This abnormality occurs during fertilization, when one X chromosome (either from the mother’s egg or the father’s sperm) becomes lost.
Symptoms
A girl with Turner syndrome may have some minor physical variations at birth, including loose skin at the nape of the neck and a low hairline, drooping eyelids, swollen hands and feet, a broad chest, and a congenital heart defect called coarctation of the aorta (see page 393). As she gets older, she may be unusually short and will not mature sexually without treatment. She will not be able to have her own biological children because of the inability of her ovaries to make eggs. However, she may become pregnant by in vitro fertilization (see page 500) with an egg donated by another woman.
Diagnosis