DOWN SYNDROME

Down Syndrome

Down Syndrome

Introduction

Down Syndrome, which used to be called mongolism, is a congenital malformation accompanied by moderate to severe mental retardation, is caused by a chromosomal abnormality. Down's syndrome is a genetic condition involving an extra chromosome, this change occurs around the time of conception. A person with Down's syndrome has forty-seven chromosomes instead of the usual forty-six. Down Syndrome Down syndrome is one of the most common and easily recognized genetic disorders. It is caused by abnormal cell division that involves the 21st chromosome pair of the 23 pairs of chromosome found in all normal human cells. There are three types of these abnormalities, which are non-disjunction, translocation, and mosaicism. Ninety five percent of children born with Down syndrome are a non-disjunction type which is three rather than two chromosome 21s. About three to four percent of cases are because of translocation which is chromosome 21 detaches and attaches to another chromosome. Mosaicism accounts for only one to two percent of births, which is an abnormal cell division with the normal 46 chromosomes while the others have 47 creating a mosaic of normal and abnormal cells.

Prevalence

Each year, three thousand to five thousand people are diagnosed with Down Syndrome in the United States. It is found in approximately one out of one thousand all live births.

A relatively common genetic disorder, Down's strikes 1 out of 600 babies. In 95 percent of all cases, the disorder originates with the egg, not the sperm, and the only known risk factor is advanced maternal age-at age 35, a woman has 1 chance in 117 of having a baby with Down's; at 40, her odds are 1 in 34. (Tingey, 1988)

Symptoms and Diagnosis

Down syndrome Down syndrome is not difficult to diagnose, doctors realize physical characteristics of those with Down syndrome right in the delivery room. Although these characteristics have no functional or behavioral significance, questions are normally asked about Down syndrome. Parents do not normally see a resemblance between their child and a child with Down syndrome. Mere appearance does not affect the child's behavior at all. Though physical symptoms are visual markers of other conditions that may impact the child's development (Stray-Gundersen, 1995).

All different ages of people with Down syndrome share appearance, and physical condition they also share some of the same kinds of routine's and treatments if needed. Some examples of physical characteristics are the eyes which are smaller and more slanted; they also tend to be closer together. The fingers are shorter than persons without Down syndrome they tend to bite and chew on there fingers quite often, which could be hazardous and harmful (Selikowitz, 1990).

Many physical characteristics are involved with Down syndrome, like the nose, ears, skull, tongue, neck, and many more of these common characteristics are affected by Down syndrome. Many defects can come when you are diagnosed with Down syndrome, heart disease is one that can be involved, and can be critical with this ...