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Down's syndrome

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VOL: 99, ISSUE: 22, PAGE NO: 28

WHAT IS DOWN'S SYNDROME?
WHAT IS DOWN'S SYNDROME?


- Down's syndrome is named after John Langdon Down, who first described the condition in 1866.


- It is a genetic condition, which occurs when an extra chromosome 21 is present.


- There are three main types of Down's syndrome: trisomy 21, translocation and mosaicism.


- Trisomy 21 (95 per cent of cases) is where all the cells have an extra chromosome 21. The presence of the extra genetic material results from an anomaly in cell division that occurs as the egg or sperm is produced, or during fertilisation;


- Translocation (four per cent) is where the extra chromosome 21 has broken off and attached to another chromosome;


- Mosaicism (one per cent) is where only some cells have trisomy 21.


CHARACTERISTICS


- Eyes that slant upwards;


- A fold of skin running vertically between the two lids at the inner corners of the eyes (the epicanthic fold);


- A head that is rather flat at the back with a hairline that is low and ill defined at the nape of the neck;


- A face that appears flat with a flat nasal bridge;


- A mouth cavity that is slightly smaller than average, and a tongue that is slightly larger than average.


- Broad hands, with short fingers, and a little finger that curves inwards;


- The palm may have only one crease across it;


- A deep cleft between the first and second toe extending as a long crease on the side of the foot.


- Reduced muscle tone, which results in floppiness.


- A below average weight and length at birth.


It is important to point out that any of these features can occur in people who do not have Down's syndrome.


INCIDENCE


- Every day two babies in the UK are born with Down's syndrome


- The chance of parents of a child with Down's syndrome having a second child with the condition can be greater than that of the general population. Genetic counselling is, therefore, very important.


- The chance of any woman having a child with Down's syndrome increases with her age, particularly after 35 years. The age of the father appears to be less significant.


SCREENING


- A blood test or a special ultrasound examination can be used to screen effectively.


- Screening tests should be performed as early in pregnancy as possible, to allow plenty of time for further decision-making.


- Screening involves measuring 'markers' which are either chemicals in the mother's blood or structures seen on ultrasound.


GENERAL HEALTH


- Many people with Down's syndrome enjoy a healthy life lasting 40-60 years.


- Weight gain can be a problem, but a controlled diet and regular exercise will prevent this.


- About 40 per cent of people with Down's syndrome have heart problems at birth, half of which require surgery.


- Over 50 per cent of children with Down's syndrome have significant hearing and/or vision problems.


- Over 30 per cent of people with Down's syndrome are likely to develop thyroid disease.


- There is increasing evidence of people with Down's syndrome having a greater risk of developing Alzheimer's disease, sometimes as young as 30 years old.


- Minor complaints such as dry skin, coughs and colds, are more common in people with Down's syndrome.


- The ability level of children and adults with Down's syndrome varies considerably, but the average rate of progress is slower than for children without the syndrome.


SUPPORT


- Early intervention programmes of education or therapy designed to accelerate the development of children with disabilities in the preschool years, such as Portage, are now widespread.


- Parents may wish to meet other families who have a child with Down's syndrome. They can do this through their local branch of the Down's Syndrome Association.


FURTHER INFORMATION



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