Down Syndrome - OTFC
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Down Syndrome

What is Down Syndrome?

The physical features and medical problems associated with Down syndrome can vary widely from child to child. While some Children with DS need a lot of medical attention, others lead healthy lives.

Though Down syndrome can’t be prevented, it can be detected before a child is born. The health problems that can go along with DS can be treated, and there are many resources within communities to help Children and their families who are living with the condition.

What Causes It?

Normally, at the time of conception a baby inherits genetic information from its parents in the form of 46 chromosomes: 23 from the mother and 23 from the father. In most cases of Down syndrome, a child gets an extra chromosome 21 — for a total of 47 chromosomes instead of 46. It’s this extra genetic material that causes the physical features and developmental delays associated with DS.

Although no one knows for sure why DS occurs and there’s no way to prevent the chromosomal error that causes it, scientists do know that women age 35 and older have a significantly higher risk of having a child with the condition. At age 30, for example, a woman has about a 1 in 900 chance of conceiving a child with DS. Those odds increase to about 1 in 350 by age 35. By 40 the risk rises to about 1 in 100.

How Down Syndrome Affects Children

Children with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and a protruding tongue.

Low muscle tone (called hypotonia) is also characteristic of children with DS, and babies in particular may seem especially “floppy.” Though this can and often does improve over time, most children with DS typically reach developmental milestones — like sitting up, crawling, and walking — later than other Children.

At birth, Children with DS are usually of average size, but they tend to grow at a slower rate and remain smaller than their peers. For infants, low muscle tone may contribute to sucking and feeding problems, as well as constipation and other digestive issues. Toddlers and older Children may have delays in speech and self-care skills like feeding, dressing, and toilet teaching.

Down syndrome affects Children’ ability to learn in different ways, but most have mild to moderate intellectual impairment. Children with DS can and do learn, and are capable of developing skills throughout their lives. They simply reach goals at a different pace — which is why it’s important not to compare a child with DS against typically developing siblings or even other children with the condition.

Children with DS have a wide range of abilities, and there’s no way to tell at birth what they will be capable of as they grow up.

Medical Problems Associated With DS

While some Children with DS have no significant health problems, others may experience a host of medical issues that require extra care. For example, almost half of all children born with DS will have a congenital heart defect.

Children with Down syndrome are also at an increased risk of developing pulmonary hypertension, a serious condition that can lead to irreversible damage to the lungs. All infants with Down syndrome should be evaluated by a paediatric cardiologist.

Approximately half of all Children with DS also have problems with hearing and vision. Hearing loss can be related to fluid build-up in the inner ear or to structural problems of the ear itself. Vision problems commonly include amblyopia (lazy eye), near- or farsightedness, and an increased risk of cataracts. Regular evaluations by an audiologist and an ophthalmologist are necessary to detect and correct any problems before they affect language and learning skills.

Other medical conditions that may occur more frequently in Children with DS include thyroid problems, intestinal abnormalities, seizure disorders, respiratory problems, obesity, an increased susceptibility to infection, and a higher risk of childhood leukaemia. Upper neck abnormalities are sometimes found and should be evaluated by a physician (these can be detected by cervical spine X-rays). Fortunately, many of these conditions are treatable.

Prenatal Screening and Diagnosis

Two types of prenatal tests are used to detect Down syndrome in a fetus: screening tests and diagnostic tests. Screening tests estimate the risk that a fetus has DS; diagnostic tests can tell whether the fetus actually has the condition.

Getting Help

If you’re the parent of a child diagnosed with Down syndrome, you may at first feel overwhelmed by feelings of loss, guilt, and fear. Talking with other parents of Children with DS may help you deal with the initial shock and grief and find ways to look toward the future. Many parents find that learning as much as they can about DS helps alleviate some of their fears.

Experts recommend enrolling Children with Down syndrome in early-intervention services as soon as possible. Physical, occupational, and speech therapists and early-childhood educators can work with your child to encourage and accelerate development.

Most states in Australia have a Down Syndrome association that supports families until the child reaches Kindy age. At that point the child falls under DECS (department of Education and Children’s services), CEO (Catholic Education Office) or AISSA (Association of Independent Schools SA) depending on parent’s preferences for their child school placement.

Where to send your child to school can be a difficult decision. Some Children with Down syndrome have needs that are best met in a specialized program, while many others do well attending neighbourhood schools alongside peers who don’t have DS. Studies have shown that this type of situation, known as inclusion, is beneficial for both the child with DS as well as the other Children.

Today, many Children with Down syndrome go to school and enjoy many of the same activities as other Children their age. A few go on to college. Many transition to semi-independent living. Still others continue to live at home but are able to hold jobs, thus finding their own success in the community.