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What is Down syndrome? - Down syndrome is also known as trisomy 21 because it's caused by a mutation of the chromosome 21.

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Chromosome 21 - Instead of two chromosomes, the mutation results in a third copy of chromosome 21 being created.

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Mutation - Therefore, people with Down syndrome are born with an extra chromosome, totaling 47 instead of 46.

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Hereditary? - The syndrome is caused by a genetic mutation that occurs during the gestation period, but according to the National Down Syndrome Society, about 1% of cases are hereditary.

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Parents - The aforementioned study indicates that there is no scientific evidence that environmental factors or activities performed by the parents, before or during gestation, can cause the syndrome.

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Statistics - According to the National Down Syndrome Society, one in every 700 babies in the United States are born with the syndrome.

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Mother's age - The National Down Syndrome Society points out that women who become pregnant at an older age are more likely to have babies with Down syndrome.

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Features - A child born with Down syndrome has some particular physical features.

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Cognitive influence - The syndrome can cause some cognitive changes or difficulties, but it's not a mental disability, as some people think.

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Communication - Some children who are born with the syndrome have difficulties in learning, speaking, or staying focused on a single activity, for example.

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Movement - Motor issues may also appear, including a greater difficulty in walking or sitting, caused by muscle weakness.

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Vision - Children with the syndrome may be short-sighted or long-sighted, and suffer from strabismus.

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Heart - People with Down syndrome may develop cardiovascular diseases, so medical checkups are very important.

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Breathing - Respiratory complications may also affect those with Down syndrome.

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Diagnosis -

The diagnosis of Down syndrome is not only done from the identification of physical characteristics after birth, but also through exams recommended by a pediatrician, often during pregnancy.

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Exam: Ultrasound - An ultrasound is a simple exam that can give clues on whether or not a fetus has Down syndrome.

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Exam: Nuchal scan - Another exam also widely used in the diagnosis of the syndrome is the nuchal translucency, which measures the level of fluid accumulation in the fetus' nape.

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Exam: Cordocentesis - A cordocentesis can also be performed. The exam consists of taking a blood sample of the fetal umbilical cord. This is normally performed after 18 or 20 weeks of gestation.

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Exam: Amniocentesis - This exam looks at the fluids that surround and protect the baby during pregnancy,  which may indicate any bad formations or changes in the chromosome.

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Postnatal diagnosis - Even with very thorough prenatal care, the diagnosis can end up only happening after the baby is born, through a blood test.

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Mosaic Down syndrome - The syndrome may manifest differently and only affect part of the child's cells. This is called mosaic Down syndrome.

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Chromosomal translocation -

This is when the number of chromosomes doesn't change, but a piece of chromosome 21 becomes attached to another chromosome, giving the child the characteristics of Down syndrome.

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Care - There are many ways to help improve the quality of life of those with Down syndrome.

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Physical activity - Physiotherapy sessions with the help of a specialist are recommended for treating muscle weakness and motor difficulties.

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Speech therapy - Speech therapy sessions help in the development of speech and communication in general.

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Breastfeeding - Breastfeeding can also help develop speech as it aids in strengthening facial muscles and breathing.

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Support - Specialized support for psycho-motor stimulation helps the child to learn and to be more attentive.

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Development - A child who is born with Down syndrome has every possibility to develop and live a regular life.

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Down syndrome -

Down syndrome does not affect people based on ethnicity, social or economic status, and can happen in any family, anywhere in the world. It's important to remember that no human being is the same. We are all different, and that's what makes us special.

Source: (National Down Syndrome Society)

See also: Stars who suffer from rare diseases

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