"As many as 120 features have been associated with Down syndrome, although many individuals have no more than 6 or 7" [1]
Physical Aspect
As Down Syndrome is the most common chromosomal abnormality genetic disorder, sings and symptoms are detected at an early stage throughout the time of the pregnancy period.It is completely up to the patient whether or not they would like to test their baby for DS. Whether the detection is found through screening or diagnostic tests during the pregnancy or at the time of birth, the physical characteristics are easily detected and diagnosed to the correct disorder. For Down syndrome, diagnosis is more easily applied to the illness as the physical appearances are more common. However, for a newborn, there is a large differentiator for each individual. Some babies may show physical characteristics more than others. However, most common DS patients display physical appearances of having an upward slant of they eyes, flat face, large tongue or widely spaced toes. (Figure 1.3 Below) Importantly, height, weight and head sizes are a contributing variable for patients who suffer DS. As DS suffer's grow older they are more inclined to have a short stature and bowed legs. Significantly, the average height is also a changing factor. For men suffering DS, the average height is 154cm, whereas for the normal Australian, the average height is 185cm. [5] On the other hand, females are expected to grow to 144cm, though the average height is 171cm tall. Physical Characteristics -Flat Faial profile -Upward Slanting of eyes -Unusual eyelids -Small chin -Smaller noses -Flat nasal bridge (Figure 1.3) -Short neck -Single transverse palmar crease (Figure 1.4) -Poor muscle tone (Figure 1.5) -Excessive space between toes (large toes and the second toe) (Figure 1.2) -Short fingers -Smaller limbs -Mouth tends to stay open with tongue sticking out |
Mental Aspect
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![Picture](/uploads/3/7/3/8/37389513/5228742.jpg?250)
Mental Conditions
The mental aspect also plays an increasingly substantial role throughout an individuals life. Down Syndrome patients are more likely than unaffected individuals to have one or more of the following health conditions:
Heart Defects is found in almost half of the number of baby's with DS. [6] Heart defects are a large variable meaning some patients are able to be treated with medication, whereas others may need to undergo surgery. To get an early detection, within the child's first two months they are able to undertake a special ultrasound (Echocardiogram)
Vision Problems are one of the most significant genetic disorders that a child may have to undergo. With a massive 60% of children with Down Syndrome, vision problems including crossed eyes, near - or far - sightedness and catarcts (refer to Figure ) However, the positive aspect being glasses, or surgery is an accurate treatment. For an early detection, a child should be examined by an eye doctor (paediatric Ophthalmologist) within their first 6 months of life, occurring to regular visions tests.
Similar to vision problems, hearing loss is an additional medical disorder with an intrusive 75% within Down Syndrome children. Hearing loss may occur due to the fluid in the middle ear and/or defects involving the middle or inner ear. Prevention for this significant medical problem is undergoing screening at birth and reoccurring visits for the first few months of their life, leading to regular hearing tests to remain in control of any problems and before the development of speech and language is developed.
Early detection of Thyroid Hormone is vital. As Thyroid Hormone affects the growth rate and brain development, regular newborn screening tests are important and if diagnoses, being treated with oral doses of Thyroid Hormone is significant.
Luukemia, being a blood cancer affects fewer than 1 in 100 (1%) of individual's lives. Although, one of the best treatments of chemotherapy is available to cure this cancer.
The mental aspect also plays an increasingly substantial role throughout an individuals life. Down Syndrome patients are more likely than unaffected individuals to have one or more of the following health conditions:
Heart Defects is found in almost half of the number of baby's with DS. [6] Heart defects are a large variable meaning some patients are able to be treated with medication, whereas others may need to undergo surgery. To get an early detection, within the child's first two months they are able to undertake a special ultrasound (Echocardiogram)
Vision Problems are one of the most significant genetic disorders that a child may have to undergo. With a massive 60% of children with Down Syndrome, vision problems including crossed eyes, near - or far - sightedness and catarcts (refer to Figure ) However, the positive aspect being glasses, or surgery is an accurate treatment. For an early detection, a child should be examined by an eye doctor (paediatric Ophthalmologist) within their first 6 months of life, occurring to regular visions tests.
Similar to vision problems, hearing loss is an additional medical disorder with an intrusive 75% within Down Syndrome children. Hearing loss may occur due to the fluid in the middle ear and/or defects involving the middle or inner ear. Prevention for this significant medical problem is undergoing screening at birth and reoccurring visits for the first few months of their life, leading to regular hearing tests to remain in control of any problems and before the development of speech and language is developed.
Early detection of Thyroid Hormone is vital. As Thyroid Hormone affects the growth rate and brain development, regular newborn screening tests are important and if diagnoses, being treated with oral doses of Thyroid Hormone is significant.
Luukemia, being a blood cancer affects fewer than 1 in 100 (1%) of individual's lives. Although, one of the best treatments of chemotherapy is available to cure this cancer.
References
- Information About Down Syndrome. 2014. Information About Down Syndrome. [ONLINE] Available at: http://www.dsaq.org.au/information-about-down-syndrome.htm. [Accessed 17 August 2014].http://www.dsaq.org.au/information-about-down-syndrome.htm
- Down syndrome - Wikipedia, the free encyclopedia. 2014. Down syndrome - Wikipedia, the free encyclopedia. [ONLINE] Available at:http://en.wikipedia.org/wiki/Down_syndrome. [Accessed 17 August 2014].http://en.wikipedia.org/wiki/Down_syndrome [2]
- Down syndrome: Due to Excess Chromosome Conditions | Health Information. 2014. Down syndrome: Due to Excess Chromosome Conditions | Health Information. [ONLINE] Available at:http://sourcehealthinformation.blogspot.com.au/2013/07/down-syndrome-due-to-excess-chromosome.html. [Accessed 17 August 2014].http://sourcehealthinformation.blogspot.com.au/2013/07/down-syndrome-due-to-excess-chromosome.html[3]
- Down syndrome: MedlinePlus Medical Encyclopedia. 2014. Down syndrome: MedlinePlus Medical Encyclopedia. [ONLINE] Available at:http://www.nlm.nih.gov/medlineplus/ency/article/000997.htm. [Accessed 17 August ]
- 2014].en.wikipedia.org/wiki/Human_heightDown syndrome | March of Dimes. 2014. Down syndrome | March of Dimes. [ONLINE] Available at: http://www.marchofdimes.com/baby/down-syndrome.aspx. [Accessed 18 August 2014].