Down syndrome, also known as Trisomy 21, is a condition that affects one out of every 733 babies. The most common chromosomal abnormality in the world, Down syndrome is caused by the presence of an extra copy of chromosome 21. This deviation disrupts physical and mental development and can cause a lifetime of associated health problems.

About Down Syndrome

In most cases, Down syndrome results from an error in cell division of the sperm or ovum. When these reproductive cells combine at fertilization, the egg contains 23 chromosome pairs. An individual with Down syndrome will have 47 rather than the typical 46 chromosomes.

Doctors are still working to find out how the extra chromosome finds its way into an affected child’s DNA structure. Although the cause is not fully understood, Down syndrome is believed to be a random event that occurs during conception.

There is evidence that the risk of abnormalities in a reproductive cell increases with the age of an expectant mother. Doctors recommend that women over the age of 35 meet with a genetic counselor for a prenatal exam. If the presence of Down syndrome is suspected, an expectant mother can find out what to expect and how to care for an individual with Down syndrome.

Growing and Living with Down Syndrome

Symptoms experienced by individuals with Down syndrome will vary. Some may have relatively manageable problems while others suffer from serious, lifelong conditions. Although babies with Down syndrome will have physical and learning disabilities, many will lead happy, productive lives well into adulthood.

Physical complications associated with the condition may include:

• Birth defects of the heart
• Poor muscle tone
• Irregular or crooked teeth
• Stomach and intestinal problems, including a blocked small intestine or gastroesophageal reflux
• Celiac disease
• Problems with short-term memory
• Difficulty concentrating
• Low IQ and poor decision-making skills
• Hearing problems
• Vision problems
• An underactive thyroid gland that may result in hypothyroidism
• A small skeletal structure with short, stocky arms and legs
• Delayed physical growth
• Slow language development

Caring for an Individual with Down Syndrome

Because they are prone to health problems, individuals with Down syndrome should have regular medical checkups and receive immunizations for diphtheria, tetanus, pertussis, pneumonia, and chickenpox. Adequate calcium intake is also essential (by diet or supplement) to prevent osteoporosis.

A supportive home environment is important for the happiness and health of people with Down syndrome. They should be encouraged to exercise regularly, take part in recreational activities, and maintain an ideal body weight. This is particularly important as obesity is common in those with Down syndrome. If physical or speech skills become a problem, therapy may be a useful form of treatment.

What to Expect

Caretakers and family members can effectively understand and care for an adult with Down syndrome if they know what to expect. Behaviors that can initially incite concern may be perfectly normal. It is not uncommon for adults with Down syndrome to have imaginary friends, engage in self-talk, and be repetitive and orderly in day-to-day activities.

Of course, someone with Down syndrome experiences a full range of feelings, but they may express their emotions differently than others. For example, their reactions to feelings like grief can be delayed. Being engrossed in an isolated activity or appearing indifferent does not necessarily indicate sadness. It is common for people with Down syndrome to experience extreme behavioral changes when communicating a physical or psychological problem.

Like others, adults with Down syndrome need to feel a sense of accomplishment, so it is important to help them find a job or skill that will satisfy that need. With the help of family members, caretakers, and medical practitioners, many adults with Down syndrome can live longer lives, settle down, marry, and live independently.

The Alzheimer Connection

The life expectancy of a person with Down syndrome has increased to 50 years, but premature aging is still typical in cases of Down syndrome.

Memory loss and personality changes, symptoms similar to those found in Alzheimer’s disease, are common in adults. Although many individuals who are age 35 and older experience these symptoms, not all of them will develop Alzheimer’s disease.

Outlook

Families, caretakers, doctors, therapists, and teachers can provide adults with Down syndrome with the strength and support they need to live a long and fulfilling life. Research on the effective treatment and management of Down syndrome has progressed, and the prospects for health and wellbeing in individuals with Down syndrome continue to improve.