Roche A. Samy
Down Syndrome
Down syndrome is a combination of birth defects including mental retardation. Formerly, it was called mongolism because most infants with this birth defect have a somewhat oriental appearance. “Mental retardation” means that the child does not learn as quickly as other children, due to abnormal brian formation.
A Child With Down Syndrome
The child may have oval-shaped eyes, a tongue that seems big for the mouth, a short neck. The head may be flattened in the back and the ears small and sometimes folded a little at the tops. The nose is also flattened and wide. The child or adult with Down syndrome is often short in stature and has unusual looseness of the joints.
Significance of The Mental Retardation
The degree of mental retardation varies widely, from mild to moderate to severe. Most fall within he moderate range, but all are retarded to some degree. There is no way to predict the mental development of a child with Down syndrome from the physical appearance.
Symptoms of a Child with Down Syndrome
A child with this birth defect can usually do most things that any young child can do, such as walking, talking, dressing and being toilet-trained. However, they do these things later than other children. As with other children, you never can know exactly at what age these developmental milestones will be achieved.
A Child with Down Syndrome and Studies
There are special programs beginning in the preschool years to help each child develop skills as fully as possible. These programs continue through the school years and there are special work programs designed for adults with Down syndrome. The extend of achievement is determined by the development of the brain and the social environment in which the child lives.
Children with Down Syndromes and Special Health Problems
Many have heart abnormalities and frequently, surgery can correct these problems. A child with Down syndrome may have many colds, bronchitis and pneumonia. These children, like all others, should receive regular medical care including eye and hearing tests as well as regular immunizations.
Many adults with Down syndrome age faster than their normal age group. Life expectancy among Down syndrome adults is about 50 years of age, but this varies widely.
Causes of Down Syndrome
A baby is formed when the egg from the mother and the sperm from the father come together. Normally, egg and sperm cells each have 23 chromosomes. Chromosomes are the hereditary information “packets” of every living cell. In the usual case of a child with Down syndrome, either the egg or the sperm cell contributes 24 chromosomes, instead of 23. The result is that the chromosomes present total 47, instead of normal 46. The extra chromosome causes the mental and physical characteristics of Down syndrome. This cause of Down syndrome is called trisomy 21, because of the presence of three #21 chromosomes. Certain other accidents involving chromosome #21 in egg, sperm or very early embryo also cause Down syndrome, but account for less than 4 percent of cases.
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Treatment of Down Syndrome
There is unfortunately no cure for a child born with this birth defect. Although many claims are made, science has yet to develop the means to prevent the cause of Down syndrome.
Marriage and Down Syndrome
Some young people with Down syndrome have married, but this is unusual. A man with Down syndrome had never fathered a child. A woman with Down syndrome has a 50-50 chance of having a child with the same condition. Many people with Down syndrome require someone to care for them.
Possibilities and Greater Chances of Having a Down Syndrome
Parents who have already had a baby with down syndrome, a mother or father who as a chromosome rearrangement as mentioned above, a mother who is over 35 years old. The chances of an older woman having a baby with Down syndrome are the same whether it is the mother’s first pregnancy or not. Down syndrome is the most common genetic birth defect. It affects all races and economic levels of society equally.
Diagnosis Before Birth
There is reason to be concerned about the possibility, a test called amniocentesis can be done in the fourth month of pregnancy. Any family who has a mentally retarded child or a child with other birth defects can discuss the test with a doctor or other health professional who may refer them to a genetic counseling center. The test cannot guarantee the birth of a normal child, but it can indicate whether Down syndrome is present in the fetus.
Mental Retardation
This is moderate to severe in most patients, but some can be trained to the eighth grade or an even higher level. It is important to have the child seen regularly by a physician so that he can judge growth and development and aid in making decisions about appropriate education and training.
Leukemia and Heart Defects
Acute leukemia is 20 times as frequent in children with Down’s syndrome as in normal children. About half of all infants with the syndrome have congenital heart defects.
(figure available in print form)
(figure available in print form)
