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What is down syndrome

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Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is characterized by intellectual disability and developmental delays, a distinct facial appearance, and weak muscle tone. There are three main types - trisomy 21, translocation, and mosaicism. While people with Down syndrome experience cognitive delays, the intellectual disability is usually mild to moderate. With proper support and care, people with Down syndrome can learn skills, go to school, work, and live independently or within a supportive community.

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WHAT IS DOWN SYNDROME? By Sylvia Mendez
Having Down syndrome is like being born normal. “I am just like you and you are just like me. We are all born in different ways, that is the way I can describe it. I have a normal life.” Chris Durke
Down Syndrome • It is named after John Langdon Down, the British doctor who described it in 1866. • Life expectancy is around 50 to 60 years in the developed world with proper health care. • Down syndrome is the most common chromosomal anomaly, occurring approximately once in every 733 births. • Down syndrome is a genetic disorder caused when abnormal cell division results in extra genetic material from chromosome 21. • Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone called hypotonia, in infancy.
Different types of Down Syndrome There are three forms of Down syndrome: trisomy 21, translocation Down syndrome and mosaic Down syndrome. Each one of these three forms has the chromosomal conditions that leads to certain differences. Genetic tests should be done to know what type of Down syndrome a baby has. • Trisomy 21: It is the most common kind, accounting for around 95% of all cases. It is not a hereditary condition. It is called nondisjunction trisomy 21, because chromosome 21 did not disjoin from itself and divide evenly. Every cell in the body has an extra chromosome 21. • Translocation Down syndrome: In 3-4 % of Down syndrome people the extra chromosome 21 is permanently attached to another chromosome causing translocation. Sometimes it happens to the number 14 chromosome, or sometimes to the other number 21 chromosome. • Mosaic Down Syndrome: It is diagnosed when there is a mixture of two types of cells, some containing the usual 46 chromosomes and some containing 47. It occurs in 1-2% of people with Down syndrome. It can result in a milder level of intellectual disability and less obvious physical characteristics to the other forms of Down syndrome.
What causes Down Syndrome? People unaffected by any chromosomal condition have 23 pair of chromosomes. They are born with 46 chromosomes in each cell. They have 22 pair plus 2 sex chromosomes (as shown in the picture). After conception, the fertilized egg begins to divide. In Down syndrome, there is an error in cell division of chromosomes, called nondisjunction, and it occurs immediately at conception.
What causes Down Syndrome? In a person with Down syndrome, the extra chromosome is found in all cells. It is also known as Trisomy 21, indicates an extra 21st chromosome (as shown in the picture). In that chromosome, there is 3 chromosomes instead of 2. As a result of the extra chromosome, 1 of 3 types of Down syndrome can occur.
Are there different levels of Down Syndrome? • Down syndrome is not an illness, so having Down syndrome does not make a people sick. • Each child has their strengths and weaknesses in different areas. • Depending on their health issues, there could be very big difference. If the person with Down syndrome has hearing issues, or a serious heart condition could not develop the same strengths as someone who doesn’t has those issues. • There can be two siblings with Down syndrome in the same family with different strengths and weaknesses, although they will have more things in common for being in the same family.
Characteristics People with Down syndrome look like their parents, brothers and sisters just as much as everyone else does. However there are some common characteristics that tend to share for people with Down syndrome. • A rather flat face with a small nose. • Low muscle tone. • Small, abnormally shaped ears. • Upward slant to the eyes. • Single deep crease across the center of the palm. • Fifth finger has only one flexion furrow instead of two. • Extra space between the big toe and the second toe.
Health problems associated with Down syndrome • As many as 50% of the children with Down syndrome are also born with heart defects. Some of them are major, some are minor. For this reason, all infants with Down syndrome should have an echocardiogram within the first few months of life. • They also have hypothyroidism, slowing of the thyroid gland. • They can also have visual problems, like crossed eyes, or cataracts. • Hearing impairment is also very common. • Approximately 10%-12% can also have abnormalities in the gastrointestinal tract or develop gastroesophageal reflux. • Due to small muscles in the tongue, it is more difficult for children with Down syndrome to form words that other people can understand. • Delayed development and behavioral problems are often reported in children with Down syndrome. • All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate.
Down syndrome people can learn skills at a slower pace. Although people with Down may learn skills at a slower page, a child with Down syndrome should still be able to do most things that any young child can do, such as walking, talking, dressing and being toilet trained. Encouragement and support are the best tools to use to help your child reach developmental milestones. Early developmental therapies, such as Early Intervention, can help babies and toddlers with Down Syndrome develop skills.
Down syndrome affects, but does not determine development and achievement in a person. People with Down syndrome demonstrate a wide range of capabilities. What happens after birth will be far more important in shaping the outlook for a person with Down syndrome than the occurrence of the extra chromosome at conception.

More Related Content

What is down syndrome

  • 1. WHAT IS DOWN SYNDROME? By Sylvia Mendez
  • 2. Having Down syndrome is like being born normal. “I am just like you and you are just like me. We are all born in different ways, that is the way I can describe it. I have a normal life.” Chris Durke
  • 3. Down Syndrome • It is named after John Langdon Down, the British doctor who described it in 1866. • Life expectancy is around 50 to 60 years in the developed world with proper health care. • Down syndrome is the most common chromosomal anomaly, occurring approximately once in every 733 births. • Down syndrome is a genetic disorder caused when abnormal cell division results in extra genetic material from chromosome 21. • Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone called hypotonia, in infancy.
  • 4. Different types of Down Syndrome There are three forms of Down syndrome: trisomy 21, translocation Down syndrome and mosaic Down syndrome. Each one of these three forms has the chromosomal conditions that leads to certain differences. Genetic tests should be done to know what type of Down syndrome a baby has. • Trisomy 21: It is the most common kind, accounting for around 95% of all cases. It is not a hereditary condition. It is called nondisjunction trisomy 21, because chromosome 21 did not disjoin from itself and divide evenly. Every cell in the body has an extra chromosome 21. • Translocation Down syndrome: In 3-4 % of Down syndrome people the extra chromosome 21 is permanently attached to another chromosome causing translocation. Sometimes it happens to the number 14 chromosome, or sometimes to the other number 21 chromosome. • Mosaic Down Syndrome: It is diagnosed when there is a mixture of two types of cells, some containing the usual 46 chromosomes and some containing 47. It occurs in 1-2% of people with Down syndrome. It can result in a milder level of intellectual disability and less obvious physical characteristics to the other forms of Down syndrome.
  • 5. What causes Down Syndrome? People unaffected by any chromosomal condition have 23 pair of chromosomes. They are born with 46 chromosomes in each cell. They have 22 pair plus 2 sex chromosomes (as shown in the picture). After conception, the fertilized egg begins to divide. In Down syndrome, there is an error in cell division of chromosomes, called nondisjunction, and it occurs immediately at conception.
  • 6. What causes Down Syndrome? In a person with Down syndrome, the extra chromosome is found in all cells. It is also known as Trisomy 21, indicates an extra 21st chromosome (as shown in the picture). In that chromosome, there is 3 chromosomes instead of 2. As a result of the extra chromosome, 1 of 3 types of Down syndrome can occur.
  • 7. Are there different levels of Down Syndrome? • Down syndrome is not an illness, so having Down syndrome does not make a people sick. • Each child has their strengths and weaknesses in different areas. • Depending on their health issues, there could be very big difference. If the person with Down syndrome has hearing issues, or a serious heart condition could not develop the same strengths as someone who doesn’t has those issues. • There can be two siblings with Down syndrome in the same family with different strengths and weaknesses, although they will have more things in common for being in the same family.
  • 8. Characteristics People with Down syndrome look like their parents, brothers and sisters just as much as everyone else does. However there are some common characteristics that tend to share for people with Down syndrome. • A rather flat face with a small nose. • Low muscle tone. • Small, abnormally shaped ears. • Upward slant to the eyes. • Single deep crease across the center of the palm. • Fifth finger has only one flexion furrow instead of two. • Extra space between the big toe and the second toe.
  • 9. Health problems associated with Down syndrome • As many as 50% of the children with Down syndrome are also born with heart defects. Some of them are major, some are minor. For this reason, all infants with Down syndrome should have an echocardiogram within the first few months of life. • They also have hypothyroidism, slowing of the thyroid gland. • They can also have visual problems, like crossed eyes, or cataracts. • Hearing impairment is also very common. • Approximately 10%-12% can also have abnormalities in the gastrointestinal tract or develop gastroesophageal reflux. • Due to small muscles in the tongue, it is more difficult for children with Down syndrome to form words that other people can understand. • Delayed development and behavioral problems are often reported in children with Down syndrome. • All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate.
  • 10. Down syndrome people can learn skills at a slower pace. Although people with Down may learn skills at a slower page, a child with Down syndrome should still be able to do most things that any young child can do, such as walking, talking, dressing and being toilet trained. Encouragement and support are the best tools to use to help your child reach developmental milestones. Early developmental therapies, such as Early Intervention, can help babies and toddlers with Down Syndrome develop skills.
  • 11. Down syndrome affects, but does not determine development and achievement in a person. People with Down syndrome demonstrate a wide range of capabilities. What happens after birth will be far more important in shaping the outlook for a person with Down syndrome than the occurrence of the extra chromosome at conception.