| Down’s Syndrome or Trisomy 21 is due to a genetic chromosome abnormality which is handed on from parent to child. It is the most common mental retardation syndrome associated with malformation in humans. The pattern of physical features is characteristic. In addition to the easily recognised features, congenital heart defects occur and also gastrointestinal malformations. In childhood an early death may occur and this is often due to infection, especially pneumonia. Individuals with Down’s Syndrome have varying degrees of mental retardation, some severely affected, others hardly at all. However, by adulthood social skills may have developed to an acceptable level. The ability to communicate may be satisfactory but physical performance may not be as good. However, most children do learn to walk. Poor eyesight can go unrecognised and it is difficult to get the child to co-operate in the examination. Loss of hearing can also be present. The development of the child progresses during childhood but at a slower pace than normal. Mental retardation varies. Intelligence does not appear to diminish with age. Children reared at home do better than those placed in an institution. The trend these days is to keep the child at home. The loving care of the family unit helps both the child to develop and the family come to grips with the fact that their child is not normal in both physical and mental development. If you are concerned about a family history of Down’s Syndrome, then cytogenetic studies can be arranged through your doctor to check on the chromosome pattern and the possibility of Down’s Syndrome appearing in your offspring. The chances of having an infant with Down’s Syndrome increases with maternal age and is also increased in those parents with a chromosome irregularity.
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