Fragile X Syndrome

Monica Madavariya
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Fragile X Syndrome - Patient Education
Fragile X syndrome is a genetic disorder that affects a person’s development, especially that person’s behavior and ability to learn.
Fragile X syndrome is the most common form of inherited intellectual and developmental disability (IDD).
People with Fragile X syndrome may not have noticeable symptoms, or they can have more serious symptoms that range from learning disabilities to cognitive and behavior problems.

What causes Fragile X syndrome?
Fragile X syndrome and its associated conditions are caused by changes (mutations) in the FMR1 gene found on the X chromosome. This mutation affects how the body makes the Fragile X Mental Retardation Protein, or FMRP. The mutation causes the body to make only a little bit or none of the protein, which can cause the symptoms of Fragile X.

Inheriting Fragile X Syndrome
Fragile X syndrome is inherited, which means it is passed down from parents to children. Anyone with the FMR1 gene mutation can pass it to their children. However, a person who inherits the gene mutation may not develop Fragile X syndrome. Males will pass it down to all of their daughters and not their sons. Females have a 50/50 chance to pass it along to both their sons and daughters. In some cases, an FMR1 premutation can change to a full mutation when it is passed from parent to child.

What are the symptoms of Fragile X syndrome?
Symptoms are often milder in females than in males.
1.Intelligence and learning - Many people with Fragile X have problems with intellectual functioning.
These problems can range from the mild, such as learning disorders or problems with mathematics, to the severe, such as an intellectual or developmental disability.
The syndrome may affect the ability to think, reason, and learn.
Because many people with Fragile X also have attention disorders, hyperactivity, anxiety, and language-processing problems, a person with Fragile X may have more capabilities than his or her IQ (intelligence quotient) score suggests.
2.Physical - Most infants and younger children with Fragile X don’t have any specific physical features of this syndrome. When these children start to go through puberty, however, many will begin to develop certain features that are typical of those with Fragile X.
These features include a narrow face, large head, large ears, flexible joints, flat feet, and a prominent forehead.
3.Behavioral, social, and emotional. Children with Fragile X may be afraid or anxious in new situations.
They may have trouble making eye contact with other people.
Boys, especially, may have trouble paying attention or be aggressive.
Girls may be shy around new people. They may also have attention disorders and problems with hyperactivity.
4.Speech and language. Boys with Fragile X
may have trouble speaking clearly, may stutter, or may leave out parts of words. They may also have problems understanding other people’s social cues, such as tone of voice or specific types of body language.
Girls usually do not have severe problems with speech or language.
Some children with Fragile X begin talking later than typically developing children. Most will talk eventually, but a few might stay nonverbal throughout their lives.

How do health care providers diagnose Fragile X syndrome?
Health care providers often use a blood sample to diagnose Fragile X. The health care provider will take a sample of blood and will send it to a laboratory, which will determine what form of the FMR1 gene is present.

Prenatal Testing (During Pregnancy)
Pregnant women who have an FMR1 premutation or full mutation may pass that mutated gene on to their children. A prenatal test allows health care providers to detect the mutated gene in the developing fetus.
Because prenatal testing involves some risk to the mother and fetus, if you or a family member is considering prenatal testing for Fragile X, discuss all the risks and benefits with your health care provider.

Diagnosis of Children
Many parents first notice symptoms of delayed development in their infants or toddlers.
A health care provider can perform developmental screening to determine the nature of delays in a child. If a health care provider suspects the child has Fragile X syndrome, he/she can refer parents to a clinical geneticist, who can perform a genetic test for Fragile X syndrome.

What are the treatments for Fragile X syndrome?
There is no single treatment for Fragile X syndrome, but there are treatments that help minimize the symptoms of the condition. Individuals with Fragile X who receive appropriate education, therapy services, and medications have the best chance of using all of their individual capabilities and skills. Even those with an intellectual or developmental disability can learn to master many self-help skills.

Early intervention is important. Because a young child’s brain is still forming, early intervention gives children the best start possible and the greatest chance of developing a full range of skills. The sooner a child with Fragile X syndrome gets treatment, the more opportunity there is for learning.

Educational Treatments
A team of people are needed to work together to design an Individualized Educational Plan (IEP) for the child. The team may include parents or caregivers, teachers, a school psychologist, and other specialists in child development or education. The IEP includes specific learning goals for that child, based on his or her needs and capabilities. The team also decides how best to carry out the IEP. It reaches a consensus on classroom placement for the child, determines any devices or special assistance the child needs, and identifies the specialists who will work with the child.

The following principles apply to educating children with Fragile X :
-Develop a consistent daily schedule or routine.
-Use visual signs (pictures, sign language, logos, words) and concrete examples or materials to present ideas, concepts, steps, etc.
-Prepare the individual for any changes in routine by explaining these changes ahead of time, 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 child to be active and move around.
-Use computers and interactive educational software.
-Provide a quiet place where the child can first retreat and then regroup.

What Type of Classroom?
In general, there are three options for the classroom placement of a child with Fragile X, based on that child’s specific abilities and needs:

Full inclusion in a regular classroom
Inclusion with “pull-out” services
Full-time special education classroom

Therapy Treatments
A variety of professionals can help individuals with Fragile X syndrome and their families manage the symptoms of the disorder. Those with Fragile X might benefit from services provided by several different specialists:

Speech-language therapists can help people with Fragile X syndrome improve their pronunciation of words and sentences, slow down their speech, and use language more effectively.
Occupational therapists help find ways to adjust tasks and conditions to match a person’s needs and abilities.
Physical therapists design activities and exercises that help build motor control and improve posture and balance.
Behavioral therapists try to understand why someone with Fragile X acts out, and they create ways and strategies for avoiding or preventing these situations from occurring while also teaching better or more positive ways to respond to situations.

Medication Treatments
Though there is no medication available to cure the condition, in many cases, medications are used to treat certain symptoms of Fragile X syndrome.

Medication is most effective when paired with therapy designed to teach new coping or behavioral skills. Not every medication helps every child.


Fragile X Syndrome Fragile X Syndrome 08/01/2015
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