Fragile X Syndrome : Causes, Symptoms and Treatments

Fragile x syndrome

Fragile X syndrome (FXS) is a genetic disorder, which can affect child’s appearance, learning, behavior and health.

Symptoms can be mild to moderate. The average IQ of males with this disorder is under 55.

Men are usually more affected with this disorder than females.

It is estimated that fragile X syndrome occurs in 1.4 in 10,000 males and 0.9 in 10,000 females.

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Causes

FMR1 gene (fragile X mental retardation 1) is a human gene that makes a protein, called fragile X mental retardation protein (FMRP).

FMR protein is most commonly found in human brain and is necessary for normal cognitive development and female reproductive function.

Mutations of this gene can lead to intellectual disability, fragile X syndrome, autism, Parkinson’s disease, premature ovarian failure, developmental delays and other cognitive deficits.

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Symptoms

Symptoms of fragile x syndrome may include:

  • Trouble learning skills like sitting, walking or crawling
  • Hand-flapping and not making eye contact
  • Problems with language and speech
  • Anxiety
  • Poor impulse control
  • Temper tantrums
  • Aggressive and self-destructive behavior in boys
  • Hyperactivity and trouble paying attention
  • Extreme sensitivity to light or sound

Physical symptoms of fragile-X syndrome may include:

  • Large ears
  • A long, narrow face
  • Flexible fingers
  • A large head
  • Loose joints
  • A large forehead and chin
  • Large testicles

Syndrome also may have some other issues like:

  • Seizures
  • Vision problems
  • Hearing issues
  • Heart problems

Sometimes, girls with FXS may have trouble of getting pregnant when they grow up. They might also go into menopause earlier than usual.

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Diagnosis of Fragile X Syndrome

To check if unborn baby has fragile X syndrome, two tests can be done during pregnancy :

  • Amniocentesis : In this test, doctors will check a sample of amniotic fluid for the FMR1 gene change.
  • Chorionic Villus Sampling (CVS) : In CVS test, doctor will normally test a sample of cells from the placenta to check for the FMR1 gene.

After child birth, a blood test can diagnose fragile X syndrome.

Treatment of Fragile X Syndrome

Although, there is no treatment for Fragile X syndrome. People with an intellectual or developmental disability may learn self help skills.

Early intervention is very important. Early intervention provides children the possibility of creating a selection of abilities since the mind of a child is still forming.

Educational Treatments

children with Fragile X may benefit from special educational services that are tailored to their weaknesses and advantages.

Children with Fragile X are qualified for free public education under the law of USA. Most children with Fragile X might have learning or cognitive deficits that makes them qualified for solutions.

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Children with this disorder frequently share some particular behaviors and intellectual characteristics. For instance, kids with Fragile X may easily become overwhelmed by crowds, noise, and touch. Other common features include weak abstract thinking abilities and poor quantitative skills. Nevertheless, these kids frequently have distinctive strengths as well, including visual memory. By taking these distinctive weaknesses and strengths into account, teachers can encourage the best learning for these children.

Generally, there are 3 choices for the class room placement of a young kid With Fragile X, according to that child’s specific capabilities and needs:

  • Full inclusion in a regular class room
  • Inclusion with pull out solutions
  • Full time special education class room

Placement decisions should be based on each child’s needs and abilities.

Suggestions

Know the learning style of the person. Develop a consistent daily schedule or routine. Use visual signs and concrete examples or materials.

Prepare the person for any change in routine by describing these changes in advance, possibly by using visual signs.

Include functional goals with academic goals, for instance, teach the individual the names of different pieces of clothing as well as how to dress himself\/herself.

Provide opportunities for the kid to be active and move around. Use computers and interactive instructional software.

Provide a quiet place where the kid can first retreat and after that regroup.

Teachers may use the National Fragile X Foundations National Planning Guide for Fragile X to understand greater about the best strategies for teaching kids with Fragile X. 

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