General Overview of Down Syndrome

Down Syndrome (DS), also called Trisomy 21, is a chromosomal condition in which an extra genetic material inhibits proper mental and physical development of a child. The condition is quite rare, affecting only one in every 800 babies. Although it can’t be prevented, it can be detected early on after a child is born. Health problems associated with this condition can be treated and alleviated so that the child can live a full and healthy life.

At the time of conception, a child normally inherits genetic information from the parents through 46 chromosomes: 23 comes from the mother and 23 comes from the father. In down syndrome, a baby obtains an additional chromosome 21 so that instead of 46 chromosomes, he gets 47. This extra genetic material results in the inhibition of physical and mental development in the child. No study has determined why this occurs and there is no preventive method for the chromosomal error. However, studies have shown that women ages 35 and above have higher risk of conceiving a child with such condition. This risk increases as the woman ages.

Physical and Mental Characteristics of Children with DS
Most kids with down syndrome share certain physical features. These include flat facial profile, upward slanted eyes, protruding tongue, and small ears. Since most of them have low muscle tone or the condition called hypotonia, they seem floppy or physically weak. This can be improved with therapy overtime but it’s expected that children with DS reach milestones later than other kids. Low muscle tone also contributes to feeding problems and digestive ailments such as constipation. Kids with DS are also shorter or smaller than their peers. That’s because their growth occurs at a slower rate.

Moreover, this condition affects the children’s ability to learn, but most only have mild to moderate mental impairment. This means, they still have the ability to learn information and how to do things but it just takes them a while before they do that. For example, a child with DS can take much longer time to potty train or write his name than one who doesn’t have this condition.

Medical Problems
The alarming thing about DS is the medical problems that come with it. Fortunately, not all kids with DS are affected with ailments. Some kids with DS are more prone to developing pulmonary hypertension. This is a severe medical condition that causes irreversible damage to the respiratory system, particularly to the lungs. Infants diagnosed with DS should be checked by a pediatric cardiologist for this condition.

It’s also quite common to see children with DS with vision or hearing impairments. Hearing loss is due to the buildup of fluid in the inner ear. It can also stem out from structural problems of the ear. Vision problems such as amblyopia (lazy eye), near- or far-sightedness, and cataracts are also quite common. It’s best to see an audiologist or ophthalmologist to correct such problems immediately.

Other medical problems associated with DS include obesity, respiratory problems, infections, childhood leukemia, intestinal ailments, and thyroid problems.

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