Down syndrome is a genetic disorder that produces permanent mental retardation, developmental delays, and learning disabilities in children. The severity of symptoms varies widely. Down syndrome is relatively common; it is estimated that one in every 700 to 800 infants are affected by Down syndrome.

Diagnosis

Early assessment screening is done between the 11th and 13th week of pregnancy, in a two-part test called a “nuchal translucency screening test,” which combines ultrasound measurements of physical features with a blood test checking specific marker hormone levels.

More complete and accurate screening is done later in the first two trimesters of pregnancy. There are multiple testing options, all of which involve taking and analyzing samples of the amniotic fluid surrounding the fetus, or samples of the placenta itself. These all carry risks of miscarriage, and should be discussed with a doctor. There is also a blood test that can be performed on an infant that is exhibiting symptoms.

Down syndrome is generally easy to identify, as there are distinctive features present in most children with Down syndrome. These include flattened facial features, a relatively small head, a prominent or protruding tongue, upward-slanting eyes, and small or unusually-formed ears. The hands tend to be short and broad, with a single crease line in the palm; fingers are typically shorter than normal.

Down syndrome patients suffer from a variety of health problems. Heart defects are found in almost 50 percent of Down syndrome babies, and can be life threatening. The risk of leukemia is elevated. Persons with Down syndrome are more likely to contract infections, as they often have weakened immune systems. Other problems that can affect those with Down syndrome are obesity, sleep apnea, thyroid problems, hearing loss, poor vision, skeletal problems, gastrointestinal blockage, dementia, and mental retardation.

Because of the many medical complications often encountered in children with Down syndrome, life expectancy for them is shorter than for the average person. But thanks to advances in medicine, that life span has increased in the past few decades, from age 25 in 1983 to age 60 today.

Down syndrome babies may have difficulty breastfeeding, but it is not by any means impossible. The mother may find it valuable to consult with the doctor, a therapist, nurses, and even other mothers who have breastfed Down syndrome children.

For life skills, most states have special programs for Down syndrome children. Children are taught motor skills, social skills, language, and self-help skills by trained therapists, and sometimes provided speech or occupational therapy. Your doctor should be able to put you in touch with these programs.

Regular medical attention and health checkups are crucial to effectively managing the various health problems associated with Down syndrome. Medically, the team may consist of any or all of the following:

• Pediatric cardiologist to deals with any heart defects

• Pediatric endocrinologist who specializes in endocrine gland problems

• Pediatric gastroenterologist for stomach and intestinal problems

• Developmental pediatrician to monitor developmental delays

• Physical therapist to help improve muscle development and coordination

• Audiologist to catch and treat hearing problems

• Occupational therapist to assist with social and life skills

• Speech pathologist to improve vocal ability

With therapy, many children with Down syndrome become adults who can live largely independent lives.

Disabilities from Down syndrome vary from person to person, ranging from mild to severe. But with good healthcare, physical, speech and occupational therapies, and with the loving support of family and the community, Down syndrome kids can attend school, participate in many activities, gain employment when grown up, and develop to their full potential while leading a rich and fulfilling life.

It is natural for parents to be nervous about having a child with Down syndrome. That is why it is important for these parents to not just seek medical advice, but also to seek advice and support from more experienced parents of children with Down syndrome. For more information, you can contact the National Down Syndrome Congress at 800.232.NDSC (6372).