Down Syndrome, Causes, Diagnosis, Treatment, Prevention, Complications

Down syndrome is a genetic disorder that causes sufferers to have a low level of intelligence and distinctive physical abnormalities. Symptoms of Down syndrome can be mild or severe, and can even cause heart disease. Down syndrome or Down syndrome is a genetic disorder that is quite common. WHO data estimates that 3000 to 5000 babies are born with this condition each year.

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Down Syndrome, Causes, Diagnosis, Treatment, Prevention, Complications

With appropriate therapy and support and given early on, people with Down syndrome can live better and more productive lives.

Causes and Types of Down Syndrome

Down syndrome occurs when there is one extra copy of chromosome 21. Down syndrome is divided into three types, namely:

Trisomy 21

Trisomy 21 is the most common type of Down syndrome. In this type, each cell of the body has an extra copy of chromosome 21.

Mosaic

In this type, the extra copy of chromosome 21 only attaches to a few cells so that the characteristics of Down syndrome in people with the mosaic type are not as obvious as in trisomy 21.

Translocation

In this type, the extra copy of chromosome 21 attaches to another chromosome. Down's syndrome is a type of translocation that can be passed from parent to child.

Treatment and Prevention of Down Syndrome

Treatment of Down syndrome aims to overcome the conditions that accompany it and help sufferers in their activities. Treatment methods can be in the form of therapy or administration of drugs.

Down syndrome cannot be prevented. However, genetic counseling can tell you how likely it is to have a child with this condition.

Genetic testing is recommended for people who have families with Down syndrome or are planning their next pregnancy after having previously had children with this disorder.

Causes of Down's Syndrome

Down syndrome occurs when chromosome number 21 has one extra copy. Chromosomes or the structures that make up genes normally pair up and are inherited from each parent.

In people with Down syndrome, chromosome 21 has one extra copy, making it three. This extra chromosome causes physical abnormalities and disturbances in the child's intelligence.

Down Syndrome Risk Factors

There are several risk factors for causing an extra copy of chromosome 21, namely:

Age at pregnancy

Children born to women aged over 35 years are more susceptible to Down syndrome. The risk will increase if the father's age is over 40 years.

History of Down syndrome in the family

People who have families with Down syndrome are at risk of having children with this condition, it can even occur not only in 1 child.

Down syndrome can cause complaints in the form of physical abnormalities as well as developmental and intelligence disorders. Here is the explanation:

Physical Abnormalities

Physical abnormalities in Down syndrome are typical and can be seen at birth, including:

Smaller head size
The back of the head is flat
Small nose and mouth
The outer corner of the eye rises up
White spots on the black part (iris) of the eye
Small or abnormal ear shape
Short neck
The skin on the back of the neck is loose
The palms are wide and have only one hand line
Small limbs and short fingers
Muscles are weak and very flexible

Children with Down syndrome tend to grow slower than their peers. However, his posture is quite proportional.

Developmental and Intelligence Disorders

In addition to affecting the physical, Down syndrome also hinders the development of children in various aspects, namely:

Read
Count
Talking or speaking
Walk or move
Remember, both in the short and long term

When to See a Doctor

Do regular pregnancy checks according to doctor's advice. In addition to checking the health condition of the mother and fetus, prenatal checks are also useful for monitoring the growth and development of the fetus and detecting genetic disorders, including Down syndrome.

Patients with Down syndrome also often experience abnormalities in other organs, so they must regularly see a doctor. The goal is that the development of his condition is always monitored. Therefore, if symptoms or signs of complications of Down syndrome appear, consult a doctor immediately.

Diagnosis of Down's Syndrome

Down syndrome can be detected during pregnancy through screening for genetic disorders, namely by:

Pregnancy ultrasound

Pregnancy ultrasound is done every time a pregnant woman undergoes uterine control. Through pregnancy ultrasound, doctors can assess fetal growth by detecting the level of fetal spinal fluid.

Blood Test

Blood tests are performed in the early trimester of pregnancy, to measure levels of the protein PAPP-A (pregnancy-associated plasma protein-A) and the hormone HCG (human chorionic gonadotropin).

In the second trimester, blood tests are again carried out to measure levels of alpha-protein (AFP), estriol, HCG, and the hormone inhibin A. All of these tests form the basis for doctors to determine whether a more risky follow-up examination is needed, namely taking amniotic fluid samples. or placenta.

If necessary, the doctor will examine the amniotic fluid and a sample of the placenta, to confirm the diagnosis of Down syndrome. The following is an explanation of the inspection:

Amniotic Water Test

The amniotic fluid test or amniocentesis aims to detect genetic abnormalities in the fetus. Amniocentesis is performed in the second trimester, when the gestational age enters 15 weeks.

Placenta Sample Test

Genetic abnormalities can also be identified by sampling the placenta or placenta. This procedure is called chorionic villus sampling (CVS). CVS is done by a doctor when the pregnancy enters the age of 10-13 weeks.

In newborn babies, doctors can recognize Down syndrome through the characteristics of physical abnormalities in the baby. However, to be sure, the doctor will run a blood test to check the baby's chromosomes.

Down syndrome is a lifelong disease that cannot be treated. However, there are therapies that can be done to help patients carry out their daily activities independently. Handling is also needed to treat the conditions that accompany Down syndrome.

It should be noted, the sooner treatment is given, the patient's ability to move will also be better. The treatment methods include:

Therapy

The type of therapy given will be adjusted to the needs and age of the patient, including:

Physiotherapy, to help strengthen muscles, teach patients how to move properly, and maintain good posture
Speech therapy, to help patients speak and communicate better
Occupational therapy, to teach patients how to carry out daily activities, such as eating, lifting or placing objects, and dressing
Behavioral therapy, to teach patients how to respond positively to something, especially in patients with frustrated, obsessive compulsive disorder, or ADHD

Drugs

In addition to the above therapies, doctors can also provide drugs, such as:

Diuretics and digoxin, in Down syndrome patients with heart defects
Levothyroxine, in Down syndrome patients who have thyroid hormone deficiency (hypothyroidism)

It is important to remember, be sure to consult with your doctor first before giving medication to a child with Down syndrome. This is to prevent drug interactions or unwanted side effects.

Operation

Surgery is performed to treat conditions associated with Down syndrome, such as:

Duodenal atresia, which is an abnormality of the duodenum (duodenum)
Hirschsprung's disease, which is a disorder of the nerves of the large intestine
Atrioventricular septal defect (AVSD), which is a congenital heart defect in the form of a hole in the wall separating the right and left heart chambers, which causes blood flow to be disrupted

Please note, the role of parents is needed to maximize the results of the therapy above. Some things parents can do to accompany their child with Down syndrome are:

Speak clearly and slowly so that the child can imitate it
Encouraging children to live an active and healthy lifestyle
Invite children to play together, can read or sing
Teach children by example rather than telling them
Praise the child when he learns something new
Examine children regularly to the doctor

Parents are also advised to join a community that contains families with Down syndrome. Through this group, parents whose children suffer from Down syndrome can share information.

With positive support from the family and regular therapy and examinations to the doctor, people with Down syndrome can live independently and avoid complications.

Down syndrome complications

Down syndrome can trigger a variety of complications, some of which can become more obvious with age. These complications include:

Sleep apnea

Bone and tissue deformities in people with Down syndrome can block the airways and lead to sleep apnea.

Indigestion

Some children with Down syndrome have digestive disorders, such as celiac disease.

Hearing disorders

Most children with Down syndrome are at risk of becoming deaf or hearing loss. This condition can occur as a result of bone deformities in the inner ear or ear infections.

Impaired vision

More than half of people with Down syndrome experience visual disturbances, such as cataracts, nearsightedness, farsightedness, or crossed eyes.

Hypothyroidism

People with Down syndrome can get hypothyroidism, or a lack of thyroid hormone. This condition can be present at birth or develop with age.

Alzheimer's disease

When they reach old age, people with Down syndrome tend to develop Alzheimer's disease.

Mental disorders

Children with Down syndrome are at risk of experiencing mental disorders, such as obsessive–compulsive disorder, autism, depression and anxiety disorders.

Heart disorder

About half of children with Down syndrome are known to be born with congenital heart disease and must undergo surgery.

Another nuisance

Other conditions that are also at risk for people with Down syndrome include leukemia, obesity, dementia, autoimmune diseases, and epilepsy.

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