23 pairs, which makes a total of 46 - this is the normal number of chromosomes found in a cell. But Down-syndrome patients have 47 of them, as the 21st chromosome has three copies. This additional chromosome accounts for the person's characteristic look and intellectual disability.
The first to draw general attention to the visual traits of certain intellectually-impaired children (slanting eyes, short nose, hands and feet, etc.) was an English doctor, John Langdon Down, in the second half of the 19th century. It was from his surname that the disorder took its name.
In addition to the characteristic look and intellectual disability, Down-syndrome patients are more viable to Alzheimer's disease, digestive disorders, and also cardiac defects, etc.
Don't be too pressing about the therapy!
"Children with Down syndrome do require special care and exercises, but contrary to the common stereotype they don't need rehabilitation all day long," says Andrzej Suchcicki from the "Bardziej Kochani" (Loved More) Association of Families and Carers of Down Syndrome Patients, in an interview for the e-zdrowie on-line portal.
He further adds that there are companies which make a healthy profit developing the 'therapeutic sector'. "But we fail to remember that, besides undergoing rehabilitation, people with Down syndrome need to live ordinary lives."
Experts stress that not all Down-syndrome children exhibit the same developmental deficits, but most of them have weaker muscle tension. This requires typical rehabilitative exercises, although even an ordinary play will be of benefit to the muscles.
The majority of people with Down syndrome have problems with speaking, so exercising the speech organs is so vital. At the same time, however, as Suchcicki points out, a child should not be "tortured" with speech therapy. Preferably, a speech therapist should act as a consultant and advise on what exercises a child can perform during his or her daily activities.
It was quite a surprise for parents to hear from one of therapists that the child's articulatory system would benefit from opening jars. What do jars have to do with speech therapy? "Well, try to twist a lid open - you'll notice a tension in your facial and tongue muscles," argues Suchcicki.
Can Down syndrome be cured?
Scientists have managed to isolate from the additional chromosome the gene responsible for most of the Down-related dysfunctions.
Geneticists, in turn, hope that it will be possible to pharmacologically "turn down" the expression of this gene, thus allowing the actual treatment of Down syndrome. Before we reach this point, however, there is a long way ahead of us.
Suchcicki underlines the fact that while specialists have not confirmed any prospects for pharmacological therapy, some people opt for administering dietary supplements, vitamins and pharmaceuticals to children to improve their memory and physical condition. This is intended to neutralise the impact of the extra chromosome.
Concerned about their children's future
Statistics show that every day in Poland three children with Down syndrome are born. The risk is tenfold higher in the case of pregnancy over the age of 40.
What will their lives be like when we're not around any more? This is the parents' main worry. Are they justified in their concerns? "Definitely," says Suchcicki.
He adds that Poland has not yet developed a system which will ensure peace of mind to parents. The only options they have include social-welfare houses or solutions devised by parent associations and NGO’s - sheltered housing, hostels, etc. These being quite expensive, local governments need to lend their support, even more so that disability pensions for Down syndrome patients are still meagre.
World Down Syndrome Day is observed on 21 March - the day and the month correspond to the third chromosome in the 21st pair.
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