Fragile x syndrome: symptoms, causes, treatment & bull; hello healthy

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Definition

What is fragile X syndrome?

Fragile X syndrome or fragile X syndrome is a genetic inherited disorder that results in developmental problems and cognitive or intellectual impairment.

Fragile X syndrome or fragile X syndrome is a genetic disorder also known as Martin Bell syndrome. Babies and children with fragile X syndrome generally experience delays in speech and language development by the age of 24 months or 2 years.

Fragile X syndrome also causes children to experience anxiety disorders and hyperactive behaviors, such as impulsive actions and feeling restless.

In fact, children with this syndrome may have attention deficit disorder (ADD) which makes it difficult to focus on certain tasks and activities.

Some children with fragile X syndrome have autism (autism spectrum disorder) which affects speech or communication skills and social interactions.

Fragile X syndrome or fragile X syndrome is an inherited genetic disorder that lasts a lifetime.

How common is this condition?

Fragile X syndrome or fragile X syndrome is a rare genetic condition. It is not known with certainty the number of cases of this disease.

However, according to the U.S National Library of Medicine, this syndrome affects 1 in 4,000 boys and 1 in 8,000 girls.

Children with this syndrome can live to adulthood. In fact, your baby can also do simple activities under special supervision if they routinely undergo rehabilitation therapy.

If you still have further questions about fragile X syndrome, consult your doctor directly.

Signs & Symptoms

What are the signs and symptoms of Fragile X syndrome?

Based on the Centers for Disease Control and Prevention (CDC), the signs and symptoms of fragile X syndrome or fragile X syndrome are as follows:

• Delays in development, for example when the baby can sit, the baby can walk, and the baby can stand longer than their peers.
• Difficulty in learning.
• Social and behavioral problems, for example babies not making eye contact, feeling restless, having trouble focusing, acting and speaking without thinking, and appearing abnormally active.

Fragile X syndrome or fragile X syndrome is a congenital disorder with visible signs, both from infancy and as the child grows.

In more detail, here are the various symptoms of fragile X syndrome:

Growth and development disorders

Children with fragile X syndrome usually speak late than other children their age and tend to stutter.

In terms of intellect, the average child has mental retardation with IQ below normal and has impaired development of thought patterns.

In addition, children can also experience memory problems so that it is often difficult for them to grasp new information.

Take, for example, children often have difficulty recognizing people's faces and names or mentioning names of objects.

Behavioral disorders

Children with fragile X syndrome show some fairly typical behaviors. Children tend to avoid making eye or physical contact with their interlocutors.

Symptoms of fragile X syndrome can also show attention deficit hyperactivity disorder (ADHD), such as difficulty focusing and being hyperactive.

Another behavior that is quite unique is that children often make repetitive movements continuously, for example making movements as if they are clapping their hands.

In addition, children usually also appear to experience impulsive behavior, stutter when speaking, have trouble sleeping, depression, and experience seizures.

Physical abnormalities

Some of the following typical symptoms can be found in fragile X syndrome:

• Big ear
• Big forehead
• The jaw is protruding
• Long face
• The palate is high and curved
• Hypotonia (low muscle tone)
• Large testes in boys (especially after puberty)
• Flat feet

When to see a doctor

Fragile x syndrome or fragile X syndrome is a congenital defect in newborns that should be treated immediately. If you see a baby having the symptoms above or other questions, consult a doctor immediately.

The health condition of each person is different, including babies. Always consult a doctor in order to get the best treatment regarding the health condition of your baby.

Cause

What causes fragile X syndrome?

Fragile X syndrome or fragile X syndrome is a genetic disorder that starts when the fetus is still developing in the womb.

The cause of fragile X syndrome is due to a change or defect in the FMR1 gene on the X chromosome.

X chromosome is one type of sex chromosome, the other is called Y chromosome. Girls have two X chromosomes, while boys have one X chromosome and one Y chromosome.

Normally, the FMR1 gene is responsible for making proteins called fragile X mental retardation 1 protein (FMRP).

This FMRP protein plays a role in supporting the work of the nervous system and brain development. In addition, this protein also helps to accelerate the production of other proteins as well as play a role in the development of synapses.

Synapses are the conduits or meeting points between one nerve cell and another nerve cell. That is why the function of synapses is very important to deliver nerve impulses (messages between nerves).

However, children with fragile X syndrome cannot produce FMRP protein. As a result, the lack of FMRP protein is what causes the symptoms of fragile X syndrome to appear.

Because it is a genetically inherited disease, children can experience this disorder if they get a gene derivative from their parents.

Risk Factors

What increases the risk of developing fragile X syndrome?

The risk for developing fragile X syndrome is usually higher in children with male sex.

Meanwhile, girls are also at risk for this condition, but the symptoms they cause are usually milder.

If you want to reduce the risk factors that you and your baby may have, consult your doctor immediately.

Even if you don't actually have it, carriers (carriers) of the fragile X syndrome mutation can increase your risk of developing a variety of other medical conditions.

Girls who are carriers (carriers) of fragile X syndrome are at risk for premature menopause as adulthood.

Meanwhile, boys who are carriers (careers) have a higher risk of experiencing fragile X tremor ataxia syndrome (FXTAS).

If the child has tremor symptoms, FXTAS can make the condition worse. Not only that, FXTAS can also cause children to have difficulty walking and maintaining balance.

Boys with the FXTAS condition also have a greater risk of developing dementia later.

That is why it is important to get your child's condition checked by a doctor immediately in order to get the right diagnosis and treatment.

Diagnosis & Treatment

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

What are the usual tests to diagnose this condition?

A doctor can make a diagnosis of fragile X syndrome if the child has symptoms of delayed development or other signs.

Other symptoms of fragile X syndrome include a head circumference that is more than normal and a slightly different face shape.

Doctors also usually ask for examinations on the newborn to find out the possibility of this congenital genetic disorder if there are family members who experience it.

Boys were diagnosed with the syndrome between 35 months of age and 37 months of age, on average. While girls on average get diagnosed with this syndrome around the age of 40 months.

The diagnosis of fragile X syndrome can be made by a DNA test which involves taking a blood sample or it is called the FMR1 DNA test.

The goal of this test is to find out if there are changes in the FMR1 gene that can cause disorders related to fragile X syndrome.

After the DNA test results come out, the doctor may advise the child to undergo other tests to determine the severity of the fragile X syndrome he is experiencing.

What are the treatment options for fragile X syndrome?

Until now, no treatment has been found that can cure Fragile X syndrome.

This is because fragile X syndrome is caused by genetic factors so that the disorder has started to form since the baby was still in the womb.

Treatment to support the growth and development of children with fragile X syndrome can include speech learning therapy, walking therapy, and practicing the ability to interact with other people.

Treatment for children who experience this syndrome usually involves help and support from teachers, therapists, doctors, to family members around your little one.

In addition, administering drugs can also help control problems experienced by children, such as behavioral disorders.