Syndrome Down is a condition where additional genetic matter causes development delay of child, and sometime refers to retardation of mental. People with Syndrome Down has disparity at number chromosome 21 which is not consisted of 2 chromosome properly, but three chromosomes ( trisomy 21) so that genetic information becomes annoyed and child of also experiences deviation of physical, like canal in narrow;tight ear.
This syndrome called based on name of the inventor, be John Langdon Down from English in the year 1866. Although Syndrome Down cannot be prevented, this syndrome can be detected before child to born.
Child of with Syndrome Down will have symptoms as follows:
1. the muscle tension light, especially at the time of bearing
2. Form of unsimmetrical skull bone
3. Flat head backside
4. There is lesion at eye iris so-called blot Brushfield
5. Head of smaller than normal ( mikrosefalus) and its form abnormal
6. Thin hair, red, and mouths
7. Flat nose, uppermost tongue, and slit eyes upward
8. At canthus side in there is dermal plica which is in the form of orbicular ( called as fold epikantus), cross-eyed
9. Experiences speech disorder because construction trouble of jaw and mouth, long tongue
10. Wide and short hand with short hand radius and often only having 1 hand line at palm [his] arms
11. Little finger finger only be consisted of 2 book and curved into
12. Hearing trouble, lower located and small ear, sometime there is infection of ear
13. Among first toe and second there is gap that is wide enough
14. Experiences growth trouble and development
15. Mental backwardness ( level of subnormal intellegence)
16. Sometime is followed with suffering wafting disparity, like heart trouble, leukemia, Alzheimer, atresia oesophagus ( throat gagging), and atresia duodenum ( gagging of intestine 12 fingers).
17. Sometime also suffers some other health troubles, like thyroid trouble, alimentary canal trouble, spastic, obesity, and susceptance to infection.
DIAGNOSA
Detection to case of divisible Syndrome Down become two, that is screening test and diagnostic test. Screening test applied to measure risk possibility that fetus suffers Syndrome Down; diagnostic tested applied to ensure that the fetus is really sufferssyndrome Down or no.
Screening test is method non-invasion and doesn't generate pain taste. Some tests which can be applied is:
1. Nuchal translucency testing. This test can be done at pregnancy of 11-14 weeks, applies ultrasonografi ( USG).
2. The triple screen ( multiple marker test) with alfa-fetoprotein. This test can be done at pregnancy of 15–20 weeks. Rate alfa-fetoprotein low in mother blood shows high risk the happening of Syndrome Down at fetus contained by it.
3. USG, to know disparity of physical of at foetus. But this test only accurate around 60%
Meanwhile, diagnostic test applies methods invasif as follows:
1. Amniosentesis. Done at the age of pregnancy 16 – 20 weeks, at Ms. pregnancy will be taken dilution of its(the amnion by using needle passing abdomen. Cells at dilution of analyzable amnion to look for existence of abnormal chromosome.
2. Chorionic villus sampling ( CVS). This test applies sample from placenta and workable at pregnancy 8 – 12 weeks.
3. Percutaneous umbilical blood sampling ( PUBS). This test applies small sample from blood to channel umbilikus and workable at pregnancy more than 20 weeks.
Third the test can generate complication like birth preterm.
other Down Syndrome Diagnosis can be upheld with inspection of addition, like EKG, echocardiogram, rontgen chest, rontgen alimentary canal, or with help of stethoscope to look for murmur ( addition heart sound).
THERAPY
There is no special therapy for syndrome Down. This syndrome patient must get education and specialized training. From small, be better if they must get stimulation early on through various games, like skipping objects so-called its(the name, and colour learning from interest and leaf in yard. With this stimuluss, expected patient will be able to grow and grows almost normal. Although mathematical cognate ability not as high as normal people, but by having skill owned by them generally very enthusiastic and high dedication in working.
Besides, other disparity found on patient must be overcome as according to its(the problems. For example, disparity of certain heart must be improve or repaired through surgery, or hearing trouble and eyesight is overcome by using various auxiliarieses, or operation, if possible.
This syndrome called based on name of the inventor, be John Langdon Down from English in the year 1866. Although Syndrome Down cannot be prevented, this syndrome can be detected before child to born.
Child of with Syndrome Down will have symptoms as follows:
1. the muscle tension light, especially at the time of bearing
2. Form of unsimmetrical skull bone
3. Flat head backside
4. There is lesion at eye iris so-called blot Brushfield
5. Head of smaller than normal ( mikrosefalus) and its form abnormal
6. Thin hair, red, and mouths
7. Flat nose, uppermost tongue, and slit eyes upward
8. At canthus side in there is dermal plica which is in the form of orbicular ( called as fold epikantus), cross-eyed
9. Experiences speech disorder because construction trouble of jaw and mouth, long tongue
10. Wide and short hand with short hand radius and often only having 1 hand line at palm [his] arms
11. Little finger finger only be consisted of 2 book and curved into
12. Hearing trouble, lower located and small ear, sometime there is infection of ear
13. Among first toe and second there is gap that is wide enough
14. Experiences growth trouble and development
15. Mental backwardness ( level of subnormal intellegence)
16. Sometime is followed with suffering wafting disparity, like heart trouble, leukemia, Alzheimer, atresia oesophagus ( throat gagging), and atresia duodenum ( gagging of intestine 12 fingers).
17. Sometime also suffers some other health troubles, like thyroid trouble, alimentary canal trouble, spastic, obesity, and susceptance to infection.
DIAGNOSA
Detection to case of divisible Syndrome Down become two, that is screening test and diagnostic test. Screening test applied to measure risk possibility that fetus suffers Syndrome Down; diagnostic tested applied to ensure that the fetus is really sufferssyndrome Down or no.
Screening test is method non-invasion and doesn't generate pain taste. Some tests which can be applied is:
1. Nuchal translucency testing. This test can be done at pregnancy of 11-14 weeks, applies ultrasonografi ( USG).
2. The triple screen ( multiple marker test) with alfa-fetoprotein. This test can be done at pregnancy of 15–20 weeks. Rate alfa-fetoprotein low in mother blood shows high risk the happening of Syndrome Down at fetus contained by it.
3. USG, to know disparity of physical of at foetus. But this test only accurate around 60%
Meanwhile, diagnostic test applies methods invasif as follows:
1. Amniosentesis. Done at the age of pregnancy 16 – 20 weeks, at Ms. pregnancy will be taken dilution of its(the amnion by using needle passing abdomen. Cells at dilution of analyzable amnion to look for existence of abnormal chromosome.
2. Chorionic villus sampling ( CVS). This test applies sample from placenta and workable at pregnancy 8 – 12 weeks.
3. Percutaneous umbilical blood sampling ( PUBS). This test applies small sample from blood to channel umbilikus and workable at pregnancy more than 20 weeks.
Third the test can generate complication like birth preterm.
other Down Syndrome Diagnosis can be upheld with inspection of addition, like EKG, echocardiogram, rontgen chest, rontgen alimentary canal, or with help of stethoscope to look for murmur ( addition heart sound).
THERAPY
There is no special therapy for syndrome Down. This syndrome patient must get education and specialized training. From small, be better if they must get stimulation early on through various games, like skipping objects so-called its(the name, and colour learning from interest and leaf in yard. With this stimuluss, expected patient will be able to grow and grows almost normal. Although mathematical cognate ability not as high as normal people, but by having skill owned by them generally very enthusiastic and high dedication in working.
Besides, other disparity found on patient must be overcome as according to its(the problems. For example, disparity of certain heart must be improve or repaired through surgery, or hearing trouble and eyesight is overcome by using various auxiliarieses, or operation, if possible.
Posts
health and disease are two parallel thing :)
ReplyDeleteOnline BMI Calculator