Down Syndrome

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Down Syndrome


I chose this genetic disease because it is very important to know how to get help and treat people with Down syndrome. Over the past years, positive social and mental improvements have taken place due to the change in parental attitude towards how to deal with this genetic disorder. Today, more parents are stimulating their child's wellbeing with the help of professionals and other associations. The attitude to individuals with Down syndrome has also caused the government to change certain policies to contribute to the help provide extra care to individuals with Down syndrome. It is relevant to be informed about this genetic disease to know how to prevent and/or treat it.


Chromosome location

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Chromosomes in Down syndrome


Carriers of Down syndrome have an extra number 21 adding up for three 21 chromosome than the normal 2. The additional chromosome causes disturbance in the growth of body of the fetus because of excessive formation of unnecessary proteins.[2]


The disturbance in growth in a fetus causes irreversible consequences:

• Baby has fewer number of brain cells, brain malformation.

• Learning of the child will be slower.

• 80% of misscarriage pregnancies.[2]

Characteristics of the Disease


The physical characteristics of an individual with Down syndrome may be distinguished after birth. Some of the physical features include:



Face: Rounded, and is usually flat if is seen from the side.

Eyes: Tend to be slanted upwards, and may have yellow or white speckling around the iris (Brushfiel spots)

Hair: Usually straight, soft

Neck: Short, wide necks.

Mouth: Tongue is slightly larger which causes children to get the habit of sticking out their tongues.

Hands: Are usually wide with short fingers

Body Size: Babies weigh less, and are smaller than the average at birth. When they grow, they do it slower than other kids. Thus, their expected height is usually shorter.

• Men: 4ft 6in to 5ft 5in • Women: 4ft 3in to 5ft 1in [1]

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Treatment or Management of the Condition

Some physical treatments include:

1.Eyes and Vision

The vision of children with Down syndrome has a tendency for short-sightedness and long sightedness. Thus, their vision should be regularly checked.

2.Squint

Squint is a medical term for "cross eyes." It is very common in children with Down syndrome, and can be operated to correct the eyes' alignment. This surgery is very common in the treatment to correct the vision and improve the appearance of the affected children.

3.Muscles, bones, and joints

Children with Down syndrome develop flat feet which can be treated with special shoes, and some excercices to improve posture.[1]

Community help to families

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1.Home help:

Parents may contact their local home help services that will help doing domestic tasks, and even thake the child to the doctor

2.Internet help:

Parents may also get in touch with other parents that have children with Down syndrome, or with specialists through the internet to get advice. This method is very useful for parents who live in isolated areas.

3.School Holiday Day care, and After School Programs:

Depending on the area, after school care is available for children with disabilities in order to help the parents that need extra help.

4.Financial Help:

Parents may apply for economic benefits to cover some of the costs for the child care. It is important to work with a clerk that is specialized, or has experience with applying for this kind of financial aid to be able to get as much help as possible.

5.Legal Assistance:

When writing a will, or other legal issues that will affect the child it is important to seek for advice of a lawyer that has years of experience on the area of legal rights of children with disabilities to be able to protect the child.[3]

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Molecular Genetics

There are some types of Down syndrome that can be acquired without any of the parents being carriers:

• Trisomy 21 – (95% of chldren with Down syndrome have it) extra 21 chromosome in every cell resulting from one of the parents giving 2 number 21 chromosomes to the fetus.

• Translocation with chromosome 13,14,15,21, and 22.- (4% of children with Down syndrome have it) results when the small top segment of chromosome 21 and another chromosome break off. Those two segments then stick together.

• Mosaicism- (1% of chldren with Down syndrome have it) there is an extra 21 chromosome in some of the body cells. [1]


Trisomy.gif



Genetic Testing

The main factor that causes Down syndrome in a child is the mother´s age. This is due to the fact that women produce ovaries during her entire lifetime, and when they mature between the ages 20-40, errors may occur. The older a woman gets, the more likely errors in the formation of her ovaries will happen. On the other hand for men the sperm does not remain to mature for a long time; thus, it is less likely to have errors.[1]

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Tests during pregnancy

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Amniocentesis

This test can be done when the couple has a high risk of having a child with Down syndrome. It consists of inserting a needle below the navel of the mother, and a small amount of amniotic fluid is collected from womb. Then, the sample is taken to a laboratory to see if the Down syndrome is present by staining, and then counting the number of chromosomes under the microscope. The results of this test take about 2 weeks because the cells collected need to grow to get an accurate result.

Cons: Increases the risk of miscarriage (1 in 100).

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Chorionic villus biopsy (CVS)


This method consists of inserting a thin tube inside th vagina, an ultrasound is done at the same time. Then, the tube withdraws a sample from the placenta collecting the chorionic villi cells which are taken to the laboratory. At the laboratory, the cells are grown and the chromosomes are stained, and counted. Chorionic villi cells divide very rapidly; thus allowing features of chromosomes to be seen with more consistent numbers.

Cons: CVS has a higher risk of miscarrige than amniocentesis because it is done earlier in the pregnancy (9-11 weeks of pregnancy).

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Screening Tests

This test consists of collecting a blood sample from younger pregnant women. These test determines if th maternal blood level of certain substances that the fetus produces. If the level of these substances are abnormal, it means that the fetus has Down syndrome. However, this test can only be done after 16 weeks of pregnancy. [2]




Other relevant information

Controversial Treatments

a. Cell Therapy: involves the injection of dried brain cell from lambs and calf fetuses to children with Down Syndrome in a 5 to 6 monthly periods. The goal of this method is to improve the child's growth, development, facial appearance, height, weight among others. This treamtemnt; however, has not shown significant results in the physical characteristics of the patients. Also, it is not recommended to do this treatment because it may develop an allergic reaction that could lead to death.

b. Plastic Sugery: Can be performed in order to improve the appearance of children with Down syndrome. Some examples of plastic surgeries that are practiced upon children with Down syndrome are silicone implants to build up the bridge of the nose, chin, and cheeks. Also, the surgery to remove a part of the tongue is also very popular. However, surgeries may cause pain, and each operation has its own risks that must be considered.

c. Manipulation of Spine: Chiropractors use this method to treat the instability of the spinal joints. However, children with Down syndrome become vulnerable during the spinal manipulation because the spinal cord becomes involved. Thus, paralysis or death may occur.[1]



References

1.selikowtiz, mark. Down Syndrome: The facts. Second. sydney: Oxford University Press, Print.


2.McGuire, Dennis. Mental Wellness in Adults with Down Syndrome. first. Woodbine House, 2006. Print.


3.Tingey, Carol. Down Syndrome: A resource Handbook. Utah: College-Hill Press, Print.




Image References:

www.le.ac.uk/.../Karyotype-Down-syndrome.gif

http://click4biology.info/c4b/4/images/4.2/trisomy.gif

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http://images.google.com/imgres?imgurl=http://embarazo10.com/wp-content/uploads/2006/06/Amniocentesis.jpg&imgrefurl=http://embarazo10.com/2006/06/20/la-amniocentesis/&usg=___TO0LiScxMjwm1tnFDLlyFpF1Wc=&h=140&w=140&sz=5&hl=en&start=7&um=1&itbs=1&tbnid=iKcUq6fWeNlCAM:&tbnh=93&tbnw=93&prev=/images%3Fq%3Damniocentesis%26um%3D1%26hl%3Den%26sa%3DN%26rlz%3D1T4SNNT_en___US355%26tbs%3Disch:1


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http://images.google.com/imgres?imgurl=http://www.mayoclinic.com/images/image_popup/pr7_cvs.jpg&imgrefurl=http://www.mayoclinic.com/health/medical/IM00083&usg=__ij89ViHDjcvt21WCKdFoYImHbCw=&h=345&w=400&sz=23&hl=en&start=47&um=1&itbs=1&tbnid=qDfi64NaQTuJvM:&tbnh=107&tbnw=124&prev=/images%3Fq%3Dchrorionic%2Bvilli%2Bsampling%26start%3D36%26um%3D1%26hl%3Den%26sa%3DN%26rlz%3D1T4SNNT_en___US355%26ndsp%3D18%26tbs%3Disch:1

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