Fragile X syndrome

Fragile X syndrome's disease overview

What is Fragile X syndrome?

Fragile X syndrome, also known as chromosomal broken syndrome, Syndrome Demated X chromosomes - is a disorder disease Genetically linked sex chromosomes X, seriously affecting mental development and cognitive impairment. The disease causes defects of development and intelligence in patients.

Fragile X syndrome is a genetic cause of intellectual disabilities. Patients with Fragile X syndrome have many problems of learning, biological development, social and behavioral problems. This is a lifetime pathology, very few people with this syndrome can live independently.

Causes of Fragile X syndrome's disease

The cause of Fragile X syndrome is due to a defect in the FMR1 gene present on X chromosomes X. The promotion occurs on the FMR1 gene that causes abnormalities in the production of 1 type. Protein plays an important role in the nervous system function. This protein deficiency produces symptoms of Fragile X syndrome. The disease affects more men in women because in men with 1 chromosome X, 1 chromosome Y and women have 2 chromosomes. X.

Symptoms of Fragile X syndrome's disease

Symptoms of Fragile X syndrome for men are more severe than women. Symptoms of Fragile X syndrome are common in young children such as:

Young children are slow to develop nerves, take more time to develop nerves, learn how to walk, sit, talk, understand body language than normal people

Intelligence is slowly developing, children with poor learning, intellectual skills, difficulties in receiving new skills.

Children with Fragile X syndrome also have anxiety, fear, stuttering, and autism. In addition, children also have excessive hyperactivity, do not like to communicate with eyes, do not like to touch others.

For adults, the symptoms may be encountered such as:

Depression, anxiety, convulsions, sorrow, difficulty sleeping, stammering.

Some common physical manifestations such as: flat soles; ears, chin, forehead protruding; The face lasts ...

People at risk for Fragile X syndrome's disease

Fragile X syndrome is a disease that is more common in both men and women, which affects men more than women.

Diagnostic measures for Fragile X syndrome's disease

Diagnosis Fragile X syndrome combines clinical examination along with diagnostic tests. The best diagnostic age in boys is from 35 - 37 months old, in girls 40 months old.

Clinical examination determines the symptoms of Fragile X syndrome. The specialist will determine the clinical symptoms that the patient suffers from the intellectual and mental development. The substance of the patient to give appropriate diagnosis.

Blood test, DNA test, gene testing for abnormalities on the FMR1 gene thereby giving accurate diagnosis to take early and effective treatment. >

Performing image diagnostic techniques: Helps check and evaluate the development of agencies in Fragile X syndrome. This method not only helps the diagnosis but but also helps assess the level of disease.

Fragile X syndrome's disease treatments

Fragile X syndrome has no treatment. The treatment of Fragile X syndrome needs the help of family and society. The goal of treatment is to help patients with a better life by the following measures:

Help patients learn basic communication skills, social communication, and language use. Special education and prevention of hyperactive manifestations, excessive stimulation on behavioral issues.

Take physical therapy measures to help children develop physically with the help of family, friends and society.

Treatment of drugs on anxiety and depression for patients.

Fragile X syndrome needs to be treated and monitored for life. Compliance with your doctor's instructions in the treatment process is very important and meaningful to achieve the highest efficiency. Patients need to check periodically after treatment for timely and best effective treatment.

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