Down syndrome is a chromosomal anomaly that manifests itself through several congenital symptoms: affected people are characterized by an excess of chromosome 21 and can present physical symptoms and intellectual disabilities. All the diagnosed cases present a cognitive delay, but the degree of disability is very variable among the affected individuals, and the majority fall in the "short" or "moderately disabled" range.
Unfortunately, Down subjects are often affected by other health problems, for example:
The severity of these problems varies considerably depending on the individual.
The syndrome is the most common chromosomal abnormality in humans and the risk of conceiving a baby on the downs increases proportionally to the age of the mother. The diagnosis can occur at birth or even before, through a prenatal exam.
This syndrome can not be cured, even if an integrated approach established from the first months of life allows favoring a good development of basic skills, which allows to lead a serene and productive life.
Life expectancy has increased significantly in recent decades, from 25 years in 1983 to 60 and more current.
Causes
Down syndrome is caused by a random error in cell division that occurs during the development of reproductive cells (gametes) and that involves the presence of an additional copy of chromosome 21.
The human being normally shows 23 pairs of chromosomes, or 46 in total, inherited, respectively, half from the mother and half from the father; In some cases there is a problem before fertilization. The maternal ovum or paternal sperm can be divided incorrectly, leading to an excess of chromosome 21.
When these cells bind with a normal sperm or egg, the resulting embryo will have 47 chromosomes instead of 46, and this type of cell division error is responsible for approximately 95% of Down syndrome cases (trisomy 21) .
In approximately 90% of cases, the error occurs at the level of the mother's egg, in about 4% of cases occurs in the paternal sperm, while in the remaining 6%, the error occurs in a later phase fertilization. The result is, in any case, that the baby will have a greater amount of genetic material than what is considered normal in the human being.
Risk factor's
To date, it is believed that there is no environmental behavior or factor capable of favoring error during cell division.
Instead, the risk factors are considered:
The symptoms
The symptoms vary considerably from one person to another, as well as the problems they may face in different stages of life.
Children with Down syndrome usually show some or all of the following physical signs:
The physical development is generally slower than that of the partners, for example, due to the reduction of muscle tone, they can learn to turn around, sit down and walk a little more in time; Despite these difficulties, affected children can still learn to participate in physical activities carried out with other children.
** Intellectual disability **
The severity of intellectual disability varies considerably: most depressed people have mild or moderate intellectual disabilities, which can manifest as:
With appropriate interventions, only a few patients become severely intellectually disabled.
Integration
What skills do children with Down syndrome have?
Children generally manage to do most of the things that their peers can do:
However, they generally begin to learn a little late compared to other children
The exact age at which children will reach these goals of autonomy can not be predicted with accuracy, but with an early and specific intervention that starts from early childhood can become autonomous first.
Can children with Down syndrome go to school?
There are special programs that, already at preschool age, help children develop their skills as completely as possible. In addition to benefiting from these interventions and differentiated education, many children with Down syndrome go to school together with their healthy partners. Many children learn to read and write: some go to high school and go to college. Many are perfectly integrated into the various school and extracurricular activities.
Adults with Down syndrome can work, either following a special work program or doing a "normal" job. More and more adults with Down syndrome live in a semi-independent way within residential structures: they can take care of themselves, perform housework, make friends, participate in leisure activities and work in the community.
Can people with Down syndrome have children?
Except for rare exceptions, men with Down syndrome can not become parents.
Women with Down syndrome, on the other hand, have a 50 percent chance of giving birth to a child affected by the syndrome, but in many cases a miscarriage occurs.
** Care and therapy **
Since it is a genetic problem, Down syndrome does not exist a decisive cure, then embarked on an integrated, personalized approach based on the individual needs of each child, which has unique needs and strengths and those of any other boy.
The most important medical support is probably related to the possible health risks associated with the syndrome (congenital heart defects, incline the development of infections, hearing problems, ...), which in some cases require a very early surgical approach .
A timely intervention through careful and appropriate physical and mental rehabilitation therapies significantly increases the possibility of successful social, school and work integration, with the possibility of developing a high quality of life.
The interventions can consist of:
