Down Syndrome Children

A. Definition

Congenital abnormalities at birth that occurs in 1 in 700 babies. Mongolisma (Down's Syndrome) is characterized by mental disorders or mental disabilities ranging from moderate to severe. But almost all children who suffer from this disorder can learn to read and take care of himself.

Down syndrome is a collection of symptoms resulting from abnormalities of chromosomes, usually chromosome 21, which failed to separate themselves during meiosis resulting in individuals with 47 chromosomes. This syndrome was first described by Langdon Down in 1866.

Down syndrome is an autosomal chromosome abnormalities are most common in humans. An estimated 20% of children with down syndrome are born to mothers aged over 35 years. Synrom down the birth defects caused by chromosome kelebiha x. This syndrome is also called Trisomy 21, because 3 of the 21 chromosomes to replace normal.95% down syndrome cases are caused by excess chromosomes.

B. Aetiology

The cause of Down syndrome is a chromosomal disorder that is located on chromosome 21 and 15, with the possibilities:

1. Non-Disjunction as osteogenesis (trisomy)

2. Translocation chromosome 21 and 15

3. Postzygotic non-disjunction (Mosaicism)

The factors that play a role in the occurrence of chromosomal abnormalities (Genesis Non Disjunctional) is:

1. Genetic

Because according to the results of epidemiological studies say the increased risk of recurrent if there are children in families with down syndrome.

2. Radiation

There is much research that about 30% of mothers who gave birth ank with down syndrome have experienced in the area of radiation before conception occurs.

3. Infection and Pregnancy Abnormalities

4. Autoimmune and endocrine disorders in women

Particularly autoimmune thyroid disease associated with thyroid.

5. Age mother

When mothers above the age of 35 years is estimated that there are hormonal changes can lead to "non dijunction" on the chromosome. Endocrine changes such as increased secretion of androgens, reduced levels hidroepiandrosteron, decreased concentration estradiolsistemik, changes danpeningkatan hormone receptor concentrations of LH and FSH levels suddenly and diving before menopause. Also disorders of pregnancy are also influential.

6. Age father

In addition there are other factors such as interference intragametik, nucleolar organization, chemicals and frequency of coitus.

C. Clinical Symptoms

Birth weight of babies with down syndrome are generally less than normal.

Some form of disorder In Children With Down Syndrome:

1. Separate Sagitalis Yang Sutura

2. Fissure Palpebralis The Slopes

3. Distance Between The Legs Wide

4. Fontarela False

5. "Plantar Crease" Finger Legs I and II

6. Hyperfleksibilitas

7. Network Upgrade Around Neck

8. The palate forms of Abnormal

9. Nose Hipoplastik

10. Muscle weakness And Hipotonia

11. Eye On Brushfield spots

12. Open Mouth And Tongue Extendable

13. Epikantus curve (slope Skin That Shaped Round) One Eye On The Corner

14. Single Palmar Crease On Left And Right Hand

15. The Pupil Distance Width

16. The Flat occiput

17. Hand And Foot And The Short Width

18. Form / Structure of the Abnormal Ears

19. Eye disorders, Hand, Foot, Mouth, Sindaktili

20. Narrow eyes

Other symptoms:

1. Children who suffer from this disorder generally shorter than the age the child's age.

2. His brilliance lower than normal.

3. Wide short skull, narrow eyes and down, a small chin where the tongue sticking out and look wide hands with short fingers.

4. In some people, have a congenital heart kelaianan.

Also frequently found in gastrointestinal disorders such as esophageal atresia (blockage of the esophagus) and duodenal atresia, jugaa at high risk of suffering from acute lymphocytic leukemia. With such a child's symptoms may develop complications of mental retardation, liver damage, congenital, neurosensori weakness, recurrent respiratory tract infections, GI disorders.

Complications

1. Alzheimer's disease (a disease central nervous system deterioration)

2. Leukemia (a disease where white blood cells without a double fold of control).

Causes

1. In most cases due to excess chromosomes (47 chromosomes, the normal 46, and sometimes the extra chromosomes were abnormal places)

2. Pregnant women after passing the age (more than 40 years) the possibility of having a baby with Down syndrome.

3. Viral infection or a condition that affects the immune susteim for pregnant women.

D. Pathophysiology

Cause specific diketahiui yet, but the pregnancy by mothers aged over 35 years at high risk of having down syndrome child. Because there diperjirakan hormonal changes that can lead to "non-disjunction" which occurs on chromosome 21 and translocated chromosome 15. This can affect the aging process.

E. Prognosis

Down 44% syndrome live to 60 years and only 14% live to 68 years. The high incidence of congenital heart disease in these patients resulting in 80% mortality. The increased risk of leukemia in down syndrome is 15 times the normal population. Alzheimer's disease earlier in life expectancy will decrease after the age of 44 years.

Down syndrome child will experience some of the following:

1. Thyroid disorders

2. Hearing loss due to recurrent ear infections and serous otitis

3. Visual impairment due to the changes in the lens and cornea

4. 30 years of age suffer from dementia (memory loss, decreased intelligence personality danperubahan)

F. Prevention

1. Genetic counseling and amniocentesis on a suspected pregnancy will greatly help reduce the incidence of Down syndrome.

2. In Molecular Biology, for example by "gene targeting" or also known as "homologous Recombination" of a gene can be disabled.

G. Diagnosis

On radiological examination found "brachyaphalic" frontale sutura and the late closing. Ileum and wing bones with widening asetabular wide angle. Kariotiping examination to find the chromosomal translocation. Antenatal diagnosis by examination of amniotic fluid or villi karionik, can be done immediately at 3 months of pregnancy or in women who previously gave birth to a child with down syndrome. When a fetus is conceived to suffer sydrom down termination of pregnancy can be offered to parents.

In children with Down syndrome have a number of excess chromosome 21 (3 chromosomes) in the body which called trisomy 21. An excess of chromosome causes a change in the normal processes that regulate embryogenesis. Excess of genetic material is located on the lower arm of chromosome 21 and its interaction with other gene function resulted in a change in homeostasis that allows the physical developmental disorders (bone abnormalities), SSP (sight, hearing) and limited intelligence.

H. Handling

1. Handling In Medical

a. Hearing: approximately 70-80% down syndrome children have hearing loss hearing tests performed by the ENT since early.

b. Congenital heart disease

c. The vision: to evaluate early on.

d. Nutrition: growth disturbance will occur in infancy / preschool.

e. Abnormalities of bone: dislocated patella, groin subluksasio / atlantoaksial instability. If this last condition to cause spinal cord or if the child holds his head in a position like tortikolit, radiological examination is necessary to examine the cervical spine and the necessary consultation neurolugis.

2. Education

a. Early Intervention

This program can be used as a guide for parents to provide that on environmental memeadai for children with down syndrome, aiming to practice gross and fine motor skills and instruction to children able to speak. Also to be able to independently sperti ankak dressing, eating, learning, CHAPTER / bladder, shower, which will give children a chance.

b. Playground

For example the increase in gross motor skills and fine through playing with her friends, because children can make social interaction with friends.

c. Special Education (SLB-C)

Children will get a sense of personal identity, pride and pleasure. In addition to hone physical development, and academic and social skills, work well and good relations menjali.

3. Guidance on Parent

II.PERAWATAN
A. Assessment
1. During the neonatal period need to be assessed:
a. Temperature conditions, especially during the neonatal

b. Nutritional Needs / dining

c. State the sense of hearing and sight

d. Assessment of cognitive abilities and mental development of children

e. Child's ability to communicate and socialize

f. Motor skills

g. The ability of families in caring for down syndrome children in particular premises about the progress of the child's mental development

2. Assessment of gross motor skills and fine

3. Assessments of cognitive abilities and mental development

4. Assessment of children's ability to communicate

5. Hearing test, vision and bone abnormalities

6. How family adjustment to diagnosis and progress of the child's mental development.

B. Diagnosis

1. Changes in nutrition (in neonates): less than requirements associated with feeding difficulties because of the extended tongue and high palate.

2. Risk of injury associated with reduced hearing ability.

3. Köping ineffectiveness related families who needed financial factors in child care and mempuyai abnormal.

4. Lack of social interaction associated with child physical and mental limitations they have.

5. Knowledge Deficit (parents) associated with down syndrome child care.

C. Implementation

1. Provide adequate nutrition

a. See the child's ability to swallow

b. Give parents information on the proper way / right in giving good food

c. Provide good nutrition in children with good nutrition

2. Encourage parents to hearing and vision checked regularly

3. Dig understanding parents about down syndrome

a. Give an explanation to parents about the state of children

b. Give information to parents about the treatment of children with down syndrome

4. Motivating parents to:

a. Giving children the chance to play with peers so easy to socialize children

b. Provide flexibility / freedom of expression on the child unutk

5. give motivation to the parents to provide adequate on environmental in children

a. Encourage participation of parents in providing training and fine gross motor skills and Guiding your child able to speak

b. Give motivation to the parents in giving training to the children in everyday activities.

D. Evaluation

1. There is no difficulty in feeding the children, and children Children who get enough nutrition and adequate

2. Hearing and vision children can be detected early and can be evaluated on a regular basis

3. The family participated actively in the care of children with down syndrome well

4. Children are able to socialize and interact with the well so that children can establish good relationships with other people do not feel inferior.