What is Down Syndrome? Down syndrome (DS), also called Trisomy 21, is a condition in which extra genetic material causes delays in the way a child develops, both intellectually and physically. It affects about 1 in every 800 babies.
The physical features and medical problems associated with Down syndrome can vary widely from child to child. While some kids with DS need a lot of medical attention, others lead healthy lives.
Though Down syndrome can’t be prevented, it can be detected before a child is born. The health problems that can go along with DS can be treated, and there are many resources within communities to help kids and their families who are living with the condition.
It is named after John Langdon Down, the British physician who described the syndrome in 1866. The disorder was identified as trisomy 21 by Professor Jérôme Lejeune from France in 1959 because of the three copies of chromosome 21 in every Down syndrome case.
What Causes It? Normally, at the time of conception a baby inherits genetic information from its parents in the form of 46 chromosomes: 23 from the mother and 23 from the father. In most cases of Down syndrome, a child gets an extra chromosome 21 — for a total of 47 chromosomes instead of 46. It’s this extra genetic material that causes the physical features and developmental delays associated with DS. Although no one knows for sure why DS occurs and there’s no way to prevent the chromosomal error that causes it, scientists do know that women age 35 and older have a significantly higher risk of having a child with the condition. At age 30, for example, a woman has about a 1 in 900 chance of conceiving a child with DS. Those odds increase to about 1 in 350 by age 35. By 40 the risk rises to about 1 in 100.
Characteristics of Down Syndrome
• Facial profile seems slightly flattened
• A slightly open mouth and protruding toungue
• Slanted eyes with an epicanthic fold (tiny folds covering the inner corner of the eye)
• The bridge of the nose may appear flat
• A single crease on the palm of the hand
• Small ears
• Stubby fingers
• A slightly rounded head
• Short neck
• Down syndrome is a common genetic variation which usually causes delay in physical, intellectual and language development.
• The exact causes of the chromosomal rearrangement and primary prevention of Down syndrome are currently unknown. • Down syndrome is one of the leading clinical causes of cognitive delay in the world – it is not related to race, nationality, religion or socio-economic status.
• The incidence of Down syndrome in Kenya is estimated to be 1 in every 800 – 1,000 live births.
• While the likelihood of giving birth to a child with Down syndrome increases with maternal age; nevertheless, 80% of babies with Down syndrome are born to women under 35 years of age, as women in that age group give birth to more babies overall.
• There is wide variation in intellectual abilities, behavior and physical development in individuals with Down syndrome. Each individual has his/her own unique personality, capabilities and talents.
• 30% – 50% of the individuals with Down syndrome have heart defects and 8% – 12% have gastrointestinal tract abnormalities present at birth. Most of these defects are now correctable by surgery.
• Individuals with Down syndrome benefit from loving homes, early intervention, inclusive education, appropriate medical care and positive public attitudes.
• In adulthood, many persons with Down syndrome hold jobs, live independently and enjoy recreational opportunities in their communities
What are the Rates of Progress for a Child with Down Syndrome? Children with Down Syndrome are all individuals and vary in their rates of progress. However, they tend to have a specific profile of strengths and weaknesses:
• Social development and social learning are strengths, rights from infancy – the children enjoy and learn from social interaction with adults and peers.
• The children have strengths in social skills and in developing age-appropriate social behavior, if this is encouraged and expected. However, their good social understanding and empathy leads them to pick up on non-verbal emotional cues, such as those for anxiety or disapproval, very quickly. They are therefore sensitive to failure and may use behavioral strategies (like tantrums, pity parties and other forms of manipulative behavior) to avoid difficult situations.
• Motor development (e.g. crawling, walking, grasping, etc) is usually delayed and may hold back progress in self-help skills, handling toys in play and in writing. The use of gesture to communicate is a strength.
• Speech and language development is usually the children’s area of most significant delay – it is more delayed than non-verbal abilities. Most children understand more than they can say and singing is an important bridge to speaking.
• Speech clarity is usually a difficulty due to a heavy tongue, a high cleft, and poor muscle control.
• A high incidence of hearing difficulties is contributing to speech and language delay.
• The Children learn more effectively from visual and tactile information – what they see and touch (concrete), as opposed to listening (abstract). This is because of short term memory.
Some babies who have Down Syndrome have poor muscle tone which makes it harder for them to learn to roll over, sit up or walk. Physiotherapy can help with these problems.
About 40% – 50% of babies born with Down Syndrome have heart problems. An Ultrasound exam of your baby’s heart will show any defects. Surgery may be necessary to fix some of the heart defects.
Some babies with Down Syndrome have problems with their digestive systems which may lead to stomach and intestinal blockages. Swallowing may also be a challenge to some children due to their heavy tongue and poor muscle tone. In severe cases surgery may be necessary. However once the surgery has taken place the problem normally ceases.
Other health problems include thyroid disorders, respiratory problems, poor eyesight (and in some cases cataracts and crossed eyes) and hearing problems. Most can be corrected through surgery and in the case of eyesight difficulties corrective lenses can be used.
Children with Down Syndrome are also more susceptible to infections and these infections take a little longer to cure than other children. They also struggle with obesity and may need to observe their diet and engage in physical activities.
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