CHAPTER I

INTRODUCTION

1.1 BACKGROUND
Based on study, down syndrome afflict one of 700 menimpa satu di antara
700 life birth or one among 800-1000 baby’s birth. Foreseen, there are four
billions down syndrome in the world now, and there are 300.000 cases in
Indonesia. The new analyze that more a lot babies birth with down syndrome now
then 15 years ago. Because it is unlethal disorder in trisomy condition, so obstetric
genetic screening and protocol testing to be the focus. Major disorder is heart
disorder about 30-40%, atresia gastrointestinal, leukemia and tiroid disease. IQ
about 25-50. Insidensly, the women who pregnant above 35 years old may 1
among 250 birth, and the woman who pregnant above 40 yeras old may 1 among
69 birth.

1.2 PURPOSE
1. To know the definition of down syndrome.
2. To know set of down syndrome.
3. To know etiology of down syndrome.
4. To know diagnostic test of down syndrome.
5. To know prevention of down syndrome.
6. To know intervention of down syndrome.
 CHAPTER II
DISCUSSION

2.1 DEFINITION
Down syndrom is one condition when retardation of physical development
and mental retardation that because abnormal chromosome. These chromosome
created by some chromosome divide failure.
Down syndrome it happens because 21th chromosome structure
retardation from 23 human chromosome. Normal human being have couples of 23
chromosome so there are 46 chromosome. But, down syndrome people have 47
chromosome , because the 21st chromosome is three (trisomi). So, that cause of
abnormal metabolism cell system, and than it be down syndrom.(Christy Arum,
2012).

2.2 SET OF DOWN SYNDROME

Mother's age. The women’s age above 35 years old have higher genetic
obtetric problem risk. People who have down syndrome brother or sister. Down
syndrome in previous pregnancy (Widodo Judarwanto,2010)

2.3 ETIOLOGY
Specific etiology not realy to know, but the women who pregnant above
35 years old have higer risk to have child with down syndrom. It may because of
hormonal changing which cause “non-disjunction” translocation chromosome 21
and 15. And then, 5 % down syndrom child because mechanism that call
“Translocation“. This condition exist to genetic transfered from 14th chromosome
to 21st chromosome. ((Widodo J,2010)
2.4 DIAGNOSTIC TEST
a. Physyc Test
b. Chromosome Test
c. Ultrasonography (USG)
d. Echocardiogram (ECG)
e. Percutaneus Umbilical Blood Sampling

2.5 PREVENTION
Down syndrom prevention can do with pregnency genetic conseling or
amniocentesis. Amniocentesis is chromosome test to pregnant women, specialy in
early pregnancy. Chromosome analyze with CVS in 10-12 weeks pregnancy or
amniosentesis in 14-16 weeks pregnancy. (Widodo J,2010)

2.6 INTERVENTION
There is not found the efective treatment until now. But, could do some
theraphy, like physiotherapy. Kind of therapy, are:
a. Speech therapy. It is for DS child with SPEECH DELAYED
b. Remedial therapy. It is for DS child with academic incompetents.
c. Sensory Integration Therapy. Sensory Integration is inability to cultivate
stimuli or sensory received.
d. Behaviour Theraphy. It purpose to make DS child have a good behavior.
 CHAPTER III
CONCLUTION

Down syndrom is one condition when retardation of physical development

and mental retardation that because abnormal chromosome. Set of down syndrom
are mother's age, down syndrome brother or sister, down syndrome in previous
pregnancy. Down syndrom prevention can do with pregnency genetic conseling or
amniocentesis. There is not found the efective treatment until now. But, could do
some theraphy, like physiotherapy.
 REFERENCES

Judarwanto,Widodo.2010.“Down Syndrome: Deteksi Dini, Pencegahan dan

Penatalaksanaan Sindrom Down”(online),
http://childrenclinic.wordpress.com/2010/10/24/down-syndrome-deteksi-
dini-pencegahan-dan-penatalaksanaan-sindrom-down/.html

Rohimi, Syarif. 2013. Merawat Bayi Sindroma Down. Jakarta: Gramedia