DOWN SYNDROME: Causes, Signs and Treatment
Trisomy 21 which is Down’s syndrome is by far the most frequent trisomy; about one in every 700 children is affected. The other trisomies are present in less than one in 5,000 children and are thus much less frequent. For all trisomies, the risk of giving birth to a child with a trisomy significantly increases with the age of the mother. While women under 30 give birth to a child with trisomy 21 in less than one out of every 1,000 cases, women at the age of 35 to 39 are already in two to ten out of 1,000 cases.
WHAT IS DOWN SYNDROME?
Down Syndrome Definition: Most people have already heard of Down syndrome and have probably already seen some people suffering from this relatively common disorder. People with a Down syndrome are impaired in their mental development and have some physical features that give them a relatively distinctive look: they are rather small, have a somewhat squat physique and typical facial shape with a flattened hind head, a rounded face and light oblique eyes with a crescent-shaped fold at the inner corner of the eye. The reason for these peculiarities is not a disease, but a change in heredity, known as trisomy. Down syndrome is medically designated as trisomy 21 Down Syndrome.
Trisomies belong to the group of chromosomal abnormalities, in which the structure or number of chromosomes is altered. The chromosomes are located in the cell nucleus of each individual body cell and carry the hereditary cells in themselves. Each person usually has 23 different chromosomes, of which two copies are present per cell. This corresponds to a total of 46 chromosomes per cell. However, people with a trisomy have 47 chromosomes in each cell of their bodies, since one of the chromosomes is not twofold but threefold. The excess inheritance material leads to a variety of physical and mental impairments.
WHAT ARE THE CAUSES OF DOWN SYNDROME?
Causes of Down Syndrome: In a trisomy, the cause is usually a faulty distribution of the chromosomes in the formation of the germ cells. In contrast to all other body cells, oocytes and sperm have only a single copy of each chromosome. When egg and sperm cells fuse together during fertilization, a complete set of chromosomes with 46 chromosomes and 23 pairs of chromosomes comes together in the fertilized egg cell.
The germ cells, ie egg and sperm cells, are formed in the ovaries and the testes from normal precursor cells with a double chromosome set. These divide in a particular way so that each daughter cell receives only half of the chromosomes, one of each pair. These cells mature into egg or sperm cells. In some cases, however, a defect occurs during the formation of germ cells. Instead of a chromosome, both chromosomes of a pair of chromosomes enter the future egg or sperm cell.
However, the most important causes of trisomy are the following:
- ionizing radiation (for example X-radiation or radioactive radiation)
- chemical pollutants
- certain viral infections
- old mother’s age
WHAT ARE THE SYMPTOMS OF DOWN SYNDROME?
Down Syndrome Symptoms: In children who suffer from the same type of trisomy, the symptoms can be quite different. There are almost always some very typical trisomy symptoms that occur in almost all children and a variety of other symptoms that may occur but by no means occur. In children with a trisomy 21, for example, the following symptoms are particularly evident:
- flattened back and flattened face
- oblique eyelid axis, double eyelid folds at the inner corner of the eye
- Enlarged tongue
- broad and flat nasal root
- short, wide hands and feet with short fingers and toes
- Four-furrow (continuous furrow)
- further distance between the large and the adjacent toe (sandal gap)
- low muscle tension
- Malformations of the internal organs, for example,l heart defects in 50% of the children
- high susceptibility to infections
- differently pronounced intellectual disability
- delayed motor and linguistic development
WHAT Are THE TREATMENTS FOR DOWN SYNDROME?
Treatments for Down Syndrome: A sensible Trisomy-21 treatment, first of all, ll an optimal medical care. Children with a trisomy often suffer from heart defects and other organic malformations , which the doctor can treat and even cure according to the type of malformation. In addition, the parents at Trisomy 21 are offered a comprehensive range of treatments that enable them to optimally promote the motor, language and mental development of their child and to help them achieve a high quality of life and self-employment. In addition to a special remedial teaching at the school, this includes, for example, the following measures:
- Physiotherapy / Physical Therapy
- speech therapy
- occupational Therapy
Particularly important for the positive development of a child with trisomy is that, despite his disability, he is unconditionally accepted and accepted by his family.
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