DOWN SYNDROME

Introduction
Down Syndrome, also known as Down’s Syndrome  (or Trisomy 21  in Europe),  is a genetic disorder that affects roughly one in 800 live births around the world.   Generally random, its causes remain unknown and untreatable.   The effects of Down Syndrome, which almost always includes a degree of mental retardation, vary widely in severity, but when provided with a loving and understanding home environment, DS  children can flourish and  become active particpants in their community.   

Basic Information 
  The condition known today as Down Syndrome was first described under the name of ‘Mongolism’ by an English physician, John Langdon Down  in 1866.  Its root cause, a genetic abnormality, was not discovered until 1959.   

Down Syndrome is the result of an error in cell division at, or soon after, the mother’s egg is fertilised.   Within the nucleus of a typical human cell the genetic information is carried in coded form on 23 pairs of chromosomes, spiral threads made up of DNA.  Cell division is an extremely complex process, and potentially subject to many mishaps.  In Down Syndrome one of several errors in the division process results in chromosome 21 being duplicated, the extra DNA subtly interfering with the biochemistry of normal cell function.   

In roughly 93 percent of cases the symptoms of Down Syndrome are caused by a simple duplication of chromosome 21.  However, there are two other less-common forms of DS, which carry somewhat different consequences.   

Translocation DS is the result of DNA from chromosome 21 becoming attached to another chromosome.  The practical implication of this is that Translocation DS is an inheritable condition, meaning that a couple whose offspring have it are at significantly greater risk of having a second DS baby.   For this reason it is important that DS parents undergo genetic testing to determine the nature of their condition.   

When the duplication of chromosome 21 DNA occurs not at fertilisation, but subsequently during early cell division, the result can be that only some cells and not others carry the abnormality.   This results in ‘Mosaic Down Syndrome’, a condition found in 2-4 percent of cases.   Because the effects depend on which cells possess the extra DNA, the symptoms of Mosaic DS are very diverse, but generally less severe that conventional DS.  

Effects of Down Syndrome   The effects of Down Syndrome may be divided into two categories – physical and psychological. The former include those characteristics whereby DS is generally recognised, together with the medical problems that often accompany it. The latter include the attitudes of society to individuals with DS, and more particularly the impact that DS has on families in which the condition arises.   

The facial and other physical characteristics typical of DS children, their  warm and loving nature, or the mental retardation and learning difficulties that that accompanies them, do not need to be elaborated on here, for they are covered in detail on many websites.  Likewise attendant medical conditions in DS – heart disease, hearing loss etc. – receive wide coverage.  In any case, these are subjects best discussed with paediatricians.   

The psychological impact of Down Syndrome, however, does deserve our attention.  In many societies children with DS are considered a blight on the family, to be shut away, neglected and as far as possible forgotten about.  For both the family and the child this is a catastrophe.  Fortunately this baleful attitude is shifting, particularly in the West, and DS families and their children are often accepted by and fully integrated into their local communities, with marked benefits for all involved.    

When DS children grow up in a loving family environment, instead of being shut away anonymously in state institutions as in times past, their life expectancy improves dramatically.  Whereas in the 1920s a DS child in the United States might have been expected to live perhaps nine years, and in the 1940s thirteen years, today life expectancy has risen to fifty years.     

The family too benefits from nurturing a DS child in their midst, enjoying for example, with special delight, the mastering of new skills, however delayed.  Even greater pleasure should be enjoyed through creating a more beneficial future environment for the child by educating their community.  When DS children are viewed as ‘different’ or ‘less than’, it is because society is ignorant – and ignorance breeds fear, which in turn breeds rejection.   

In times past, DS children were shut away, fuelling society’s fear through unfamiliarity and hence ignorance.  Today, particularly within the United States, there is a growing understanding and acceptance.  DS children often attend local schools, their limitations far outweighing their contributions in other areas.  Not least, children growing up with a disabled individual in their midst acquire a valuable lesson in compassion and humanity.   

Given the opportunity, a child with Down Syndrome, however delayed its development might be in some areas, frequently possesses gifts – in music, in art, and elsewhere – that raises it above its companions.   

The principle lesson to be learned is that nobody should be neglected or starved of love and affection because they appear to have deficiencies.  Within every individual there exists the potential to make significant contributions to society.   Parents can derive a unique pleasure through nurturing and discovering such special gifts.