Down Syndrome: General Information
Down syndrome (DS) or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. Down syndrome is the most common chromosome abnormality in humans. It is typically associated with a delay in cognitive ability (mental retardation, or MR) and physical growth, and a particular set of facial characteristics. The average IQ of young adults with Down syndrome is around 50, whereas young adults without the condition typically have an IQ of 100. (MR has historically been defined as an IQ below 70.) A large proportion of individuals with Down syndrome have a severe degree of intellectual disability.Diagnoses
Down syndrome is diagnosed one of two ways, either during pregnancy or shortly after birth.
During Pregnancy
The diagnosis is always based on the presence of an extra number 21 chromosome on a karyotype (a picture of an individual's chromosomes).
At Birth
Some of the features of Down syndrome include:
- A flat facial profile, flat nasal bridge and somewhat small nose
- Almond shaped eyes with epicanthal folds
- A small mouth with a slightly enlarged tongue
- A big space between the first and second toe
- Small broad hands with short fingers and a little finger that curves inwards.
- A single palmar crease on their hand
- Reduced muscle tone (hypotonia) which results in floppiness
Tests for Down syndrome
Two tests exist that detect Down's Syndrome: Screening test and Diagnostic test.
Screening test estimates the possibility of your
baby having Down's Syndrome. The tests can be done on any women regardless of
age. The test is offered for free in some countries, but it is possible to have
the tests carried out privately, at a cost, in other nations. The screening
test cannot determine whether the baby has Down's Syndrome. It can only help
you decide whether a diagnostic test should be carried out.
The result of screening tests are given as a change
that your baby will have Down's syndrome. A result one in 1000 means that for
every 1000 women with this result, one of them will be carrying a baby with
Down's syndrome. Therefore, the chance of having a DS affected baby is low. The
lower the second number of the result is, the higher the risk of carrying a
baby with DS.
Diagnostic test gives you a definite result. The
test is usually done when the screening test shows the possibility of your baby
having chromosomal condition is high. Also, the test bears a slight risk of
miscarriage. Therefore, screening test is usually done first before diagnostic
test is used. Examples of Diagnostic test includes CVS and amniocentesis. CVS, Chorionic villus sampling is an accurate antenatal diagnostic test which can determine with barely 100% certainty whether or not your baby has got the condition. The amniocentesis, another diagnostic test for DS, has similar accuracy. It is a test during which a small sample of amniotic fluid from around the baby is taken out. Some of the baby's cells contained in the fluid are then examined for essential genetic information, including abnormalities.
From: http://www.babycentre.co.uk/a1487/screening-for-downs-syndrome and http://www.babycentre.co.uk/a327/amniocentesis#section1(for amniocentesis definition) and http://www.babycentre.co.uk/a328/chorionic-villus-sampling-cvs (for CVS definition).
Warning Signs
Down syndrome babies will have decreased muscle tone at birth. Weak muscles and loose joints are a common feature in babies and young children. Most children will gain increased muscle tone in later childhood.
Distinct Physical Features
A person with Down syndrome exhibits distinct physical features such as a small, flat face, short neck, upward slants of the eyes, flattened nose, and small ears and mouth. Other physical characteristics include short hand and fingers and a single, deep crease in the palm of the hand.
Congenital Heart Disease
Infants with Down syndrome have a much higher risk of heart problems, such as congenital heart disease. The National Association for Child Development states that 40 to 60 percent of children with Down syndrome have congenital heart disease.
Gastrointestinal Issues
Children with Down syndrome can have a host of gastrointestinal problems ranging from vomiting and diarrhea to more serious problems such as a blocked small bowel or esophagus. Gastrointestinal issues can cause immediate problems in newborns with Down syndrome.
From: http://www.ehow.com/facts_5521992_warning-signs-down-syndrome.html
How can Down Syndrome Affect My Child?
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Effect
|
Explanation
|
|
Certain
facial and physical features
|
flat
facial profile, upward slant to the eyes, small ears, a large or protruding
tongue.
|
|
Slower
growth rate
|
|
|
Mental
Retardation
|
slower
in learning, difficulties with complex reasoning and judgment, delayed in
"developmental milestones", such as walking or talking.
|
|
Mild
to Moderate intellectual impairment
|
|
|
Medical
Problems
|
common
ones are congenital heart defect, thyroid problems, intestinal abnormalities,
seizure disorders, respiratory problems, weight issues, and a slightly higher
risk of childhood leukemia. (most of the conditions are treatable. The common
treatment is hearing aids )
|
|
Hearing
problem
|
hearing
loss
|
|
Vision
problem
|
crossed-eyes,
lazy eye, near and farsightedness, and an increased risk of cataracts.
Treatments for these conditions is commonly glasses.
|
|
Personality,
Behavior and Psychological Conditions
|
routine,
order and sameness preference (stubbornness), self-talk, anxiety disorder,
depression and obsessive-compulsive disorder. The psychological disorders are
treated with behavior modification, counseling and/ or medication.
|
From: http://downsyndrome.about.com/od/downsyndromebasics/a/symptomsess_ro.htm and http://downsyndrome.about.com/od/downsyndromebasics/a/symptomsess_ro_2.htm
Down Syndrome in the Classroom
Best Ways to Help Students with Down Syndrome- Inclusion: Students with special needs should be full members of age appropriate inclusional classes (The inclusive classroom means that all students have the right to feel safe, supported and included at school and in the regular classroom as much as possible)to the extent they can be. Effective inclusion means that the teacher must be fully supportive of the model. The strategies you use to reach and teach the Down's student will often be beneficial to many learners in the classroom. Inclusion is a good practice for students with Down's Syndrome. The inclusional environment is less likely to stigmatize and provide a much more natural environment for the students. There are more opportunities for peer relationships to occur and much of the research states that full integration works better.
- Self-Esteem: The physical characteristics of a Down's student will often result in a lowered self-esteem which means you will need to take every opportunity to boost self confidenceand instill pride through a variety of strategies.
- Intellectual: Down's students usually face many intellectual challenges. Strategies that work for mildly retarded students and or students with significant learning disabilities will also work with Down's students. Much literature have stated that most individuals with Down syndrome do not progress beyond the intellectual capabilities of a normal developing six to eight year old (Kliewer 1993). However, always strive to move the child progressively along the learning continuum, never assume the child isn't capable. Solid intervention and high quality instruction have been proven to lead to improved academic achievement for Down's students. Use as many concrete materials and real world authentic situations as is possible. Use language appropriate for student understanding and speak slowly when necessary. Always break tasks into smaller steps and provide instruction for each step. Remember, a student with Down's Syndrome will usually have a good short term memory.
- Distractibility: Down's students are often easily distracted. You'll need to employ strategies that work to minimize distractions such as keeping the student away from the window, using a slightly more structured environment, keeping the noise level down and having an orderly classroom where students are free from surprises and know what your expectations, routines and rules are.
- Speech and Language: Down's students all suffer from serious problems such as hearing difficulties and articulation problems. Sometimes they will require speech/language intervention and a great deal of direct instruction. In some cases, augmentative or facilitated communication (Augmentative, sometimes referred to as alternative communication (AAC) is a method of communication used by individuals with severe speech and language disabilities, those who have Cerebral Palsy, Autism, ALS, suffered from a stroke, etc. AAC is for those individuals who are unable to use verbal speech yet are cognitively able or when speech is extremely difficult to understand. These individuals will use gestures, communications boards, pictures, symbols, drawings or a combination of all of these.) will be a good alternative for communication. Use patience and model appropriate interactions at all times.
From: http://specialed.about.com/od/disabilities/a/downs.htm
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