Fragile X Syndrome - Symptoms, causes and treatment

Fragile X syndrome is a genetic disorder that causes a child to experience delays in physical and mental development, learning and interaction disabilities, and behavioral disorders. This condition is chronic or can last throughout the child's life. Fragile X syndrome is also known as Martin-Bell syndrome.

Causes of Fragile X . Syndrome

Fragile X syndrome is caused by mutations in the FMR1 gene (Fragile X Mental Retardation 1) located on the X chromosome. The X chromosome is one of the two types of sex chromosomes, in addition to the Y chromosome. Females have 2 X chromosomes, while males have 1 X chromosome and 1 Y chromosome. Therefore, the symptoms of Fragile X syndrome will be felt more by boys than girls, because girls still have another normal X chromosome.

The cause of the mutation is not yet known. The mutated FMR1 gene causes the body to produce little or no FMR protein (FMRP), which is important for the brain. This protein is in charge of creating and maintaining interactions between brain cells and the nervous system to function properly. When the FMRP protein is not produced, signals from the brain are distorted, resulting in the symptoms of Fragile X syndrome.

Symptoms of Fragile X . Syndrome

Symptoms of Fragile X syndrome can appear after the baby is born or after the child has gone through puberty. Children with Fragile X syndrome have the following symptoms:

  • Developmental delay. Children with Fragile X syndrome take longer to learn to sit, crawl, and walk.
  • Speech disorders, such as slurred speech.
  • Difficulty understanding and learning new things.
  • Interaction disorders in social environments, such as not making eye contact with other people, dislike being touched, and difficulty understanding body language.
  • Sensitive to light and sound.
  • Aggressive behavior and prone to self-harm.
  • Sleep disturbances.
  • seizures.
  • Depression.

Fragile X syndrome also affects the patient's physical condition, which is characterized by:

  • Larger head and ears.
  • Longer face shape.
  • Wider forehead and chin.
  • Joints become loose.
  • Flat feet.
  • The testes enlarge, when boys have gone through puberty.

Diagnosis of Fragile X . Syndrome

Doctors can suspect a patient has Fragile X syndrome if there are symptoms, which are confirmed by a physical examination. To confirm this, it is necessary to do an FMR1 DNA examination, which is an examination through a blood sample to detect abnormalities or changes in the FMR1 gene. This test is done after the baby is born or after the child goes through puberty.

DNA examination can also be carried out by obstetricians while the fetus is still in the womb, namely through:

  • Chorionic villus sampling (CVS), namely laboratory examination through placental tissue samples to examine the FMR1 gene in placental cells. This test is done between the 10th and 12th week of pregnancy.
  • amniocentesis, namely examination through sampling of amniotic fluid to detect abnormalities or changes in the FMR1 gene. This examination should be done between the 15th and 18th week of pregnancy.

Fragile X . Syndrome Treatment

Fragile X syndrome has not been cured until now. Treatment steps are taken to maximize the child's potential and relieve the symptoms experienced. This treatment effort requires help and support from family members, doctors, and therapists or psychologists. Types of treatment that can be done, including:

  • special needs school, with curriculum, learning materials, and a classroom environment that has been adapted to the needs of children with Fragile X syndrome.
  • psychotherapy, to overcome emotional disorders experienced by sufferers and educate family members in accompanying children with Fragile X syndrome. One of the psychotherapy that can be done is through cognitive behavioral therapy, with the aim of changing the patient's negative thought patterns and responses to positive ones.
  • Physiotherapy, aims to improve movement, strength, coordination, and body balance in children with Fragile X syndrome.
  • speech therapy, namely a method used to improve speech or communication skills, as well as understand and express language.
  • occupational therapy, aims to maximize the patient's ability to carry out daily life independently, both at home and in the surrounding environment.

Medicines are also given by doctors to relieve and control the symptoms experienced by Fragile X syndrome sufferers. These include:

  • Methylphenidate, if Fragile X syndrome causes ADHD.
  • SSRI antidepressants (selective serotonin reuptake inhibitor), such as sertraline, escitalopram, and duloxetine, to control panic attack symptoms.
  • antipsychotic, such as aripiprazole, to stabilize emotions, improve focus, and reduce anxiety.
  • anticonvulsants, such as benzodiazepines and phenobarbital, to relieve seizures.

Fragile X Syndrome Prevention

Fragile X syndrome is a genetic condition, making it difficult to prevent. However, if you have a family member who has had Fragile X syndrome before, genetic testing is important to see if there is a risk of passing the syndrome on to your children.

Although Fragile X syndrome cannot be prevented, early treatment steps need to be taken to help sufferers reach their highest potential in cognitive, behavioral, and social skills.

Complications of Fragile X . Syndrome

Fragile X syndrome rarely causes complications. However, there are several medical disorders that children with Fragile X syndrome are prone to experience. These include:

  • seizures.
  • Hearing disorders.
  • Visual disturbances, such as crossed eyes (strabismus), nearsightedness, and astigmatism.
  • Heart disorders.