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Down Syndrome

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Who wants to be a millionaire?VideoWhat is Down Syndrome?How is it manifested?How is it infected?How is it diagnosed or detected?CharacteristicsHealth concernsVideo

Agenda

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Down Syndrome is a genetic condition that causes delays in physical and intellectual development.

It occurs in approximately 1 in every 800 live births.

Individuals with Down Syndrome have 47 chromosomes instead of the usual 46.

What is Down Syndrome?

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Approximately 92% of the time, Down Syndrome is caused by the presence of an extra Chromosome 21 in all cells of the individual

As the embryo develops, the extra chromosome is repeated in every cell. This condition, in which three copies of Chromosome 21 are present in all cells of the individual, is called Trisomy 21.

What is Down Syndrome

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In approximately 2-4% of cases, Down Syndrome is due to Mosaic Trisomy 21. This situation is similar to Trisomy 21 but, in this instance, the extra Chromosome 21 is present in some, but not all, cells of the individual

In this situation, the range of the physical problems may vary, depending on the proportion of cells that carry the additional Chromosome 21.

What is Down Syndrome

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muscle hypotoniaflat facial profile oblique palpebral fissuresdysplastic eara single deep crease across the center of the

palm

How is it Manifested

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hyperflexibilityepicanthal foldsexcessive space between large and second

toe enlargement of tongue in relationship to size

of mouth

How is it Manifested

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It is estimated that 1 in every 800-1,000 children born in Canada are diagnosed with Down Syndrome. It is the most frequently-occurring chromosomal abnormality.

Who is Infected

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Down Syndrome is usually identified at birth or shortly thereafter.

Initially, the diagnosis is based on physical characteristics that are commonly seen in babies with Down Syndrome.

How is it diagnosed or detected?

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The diagnosis must be confirmed by a chromosome study (karyotype).

A karyotype provides a visual display of the chromosomes grouped by their size, number, and shape. Chromosomes may be studied by examining blood or tissue cells.

How is it diagnosed or detected?

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There are several physical characteristics that are more common for babies with Down syndrome. They may include chubby cheeks, large, round eyes, larger tongue, smaller limbs and smaller body frame.

Newborns with Down syndrome look like babies who do not have Down syndrome. Babies and children with Down syndrome look like other members of their family.

Characteristics

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Children with Down syndrome may face health complications beyond the usual childhood illnesses.

Problems such as some congenital malformations of the heart can be life-threatening where other conditions are not as serious.

More than 40 per cent of children born with Down syndrome have a congenital heart malformation

Health Concerns

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Hypothyroidism is more common in newborns and children with Down syndrome. It is important that blood tests are repeated several times in the first few years, and annually after that, to ensure early detection and appropriate treatment.

Some degree of hearing loss, which is most often due to frequent ear infections, affects a high percentage of children with Down syndrome. Vision Concerns

Health Concerns

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No individual with Down syndrome will have all the health complications, however, every child needs good preventative medical care.

Teamwork between the family and doctors is vital to anticipate potential problems and provide specific and individual treatment should they occur. Appropriate health care can enhance the potential of individuals with Down syndrome.

Health Concerns

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