Defining Fragile X Syndrome
Published: 2009-07-24 - Updated: 2022-07-13
Author: Disabled World | Contact: Disabled World (Disabled-World.com)
Peer-Reviewed Publication: N/A
Additional References: Cognitive Disabilities Publications
Synopsis: Information and definition of Fragile X Syndrome, a genetically inherited form of mental retardation. Fragile X may be passed from a parent to a child. Parents may have children with the syndrome, even if the parents themselves do not have the syndrome. The changes in the gene associated with Fragile X might become more severe when passed from a parent to a child. Some children with Fragile X are bothered by specific sensations like bright light, loud noises, or the way something feels. They may not like to be touched, or have trouble making eye contact with others.
Defining Fragile X Syndrome
Fragile X Syndrome is a leading genetic cause of autism. About one in three people with Fragile X Syndrome also has autism. Even those who do not have autism often share certain autistic traits, such as avoidance of eye contact and difficulties in social situations.
Fragile X syndrome is a genetically inherited form of mental retardation. The syndrome occurs when there is a change or mutation in a single gene, referred to as the 'Fragile X Mental Retardation 1 (FMR1) Gene.' The gene usually produces a protein a person's body requires for their body to develop; however, when there is a change in this gene, the person's body produces only a small amount of the protein or none of it. The result of this can cause symptoms of Fragile X.
Fragile X may be passed from a parent to a child. Parents may have children with the syndrome, even if the parents themselves do not have the syndrome. The changes in the gene associated with Fragile X might become more severe when passed from a parent to a child. Some persons can have only a small change in the FMR1 gene, referred to as a 'Pre-mutation,' and might not present signs of Fragile X. Others may present larger changes in the gene, referred to as a 'Full Mutation,' which cause the symptoms of Fragile X.
Symptoms of Fragile X Syndrome
Not all people with Fragile X syndrome experience the same symptoms and signs, although they may have things in common. Girls many times experience milder symptoms than boys. Common signs of Fragile X syndrome can include:
Intelligence and learning:
Some people with Fragile X experience intellectual disabilities. The issues they experience can range from mild learning disabilities to more severe mental retardation.
Adolescents and adults with Fragile X might have long ears, faces, and jaws. Some people with Fragile X might also have loose, flexible joints. They might have flat feet and be able to extend their joints such as their thumb, knee, and elbow further than average.
Social and Emotional:
The majority of children with Fragile X experience some behavior challenges. They may be afraid or anxious in new situations. Many children, particularly boys, have trouble paying attention or may be aggressive. Girls might be shy around new people.
Speech and Language:
Most boys with Fragile X experience problems with speech and language. They might have trouble speaking, stutter, or leave out parts of their words. They might have trouble understanding "hints" when talking to other people, such as understanding the speaker's tone of voice or that person's body language. Girls usually do not have severe difficulties with speech or language.
Some children with Fragile X are bothered by specific sensations like bright light, loud noises, or how something feels. They may not like to be touched or have trouble making eye contact with others.
Persons with Fragile X experience levels of impairment related to intellectual functioning, affecting their ability to reason, learn and think. In the majority of cases, intelligence testing is used to measure their intellectual functioning capabilities, with a resulting Intelligence Quotient score. The score reflects several things besides their ability to think. Hyperactivity, anxiety, attention disorders, and language processing issues may interfere with the person's learning and test-taking skills. The fact that many people who have Fragile X experience these problems indicates another fact - they also have many more capabilities than a simple I.Q. The test may suggest.
Females tend to be less seriously affected by the syndrome than males. Even in females with full-mutation FMR1 genes, approximately one-third have an I.Q. In the mental retardation range. Females with Fragile X are more likely to present with normal cognitive development or may demonstrate a learning disability in some areas compared to their overall ability to learn. A female with a learning disability related to math may do fine in other areas of study, for example.
Infants and children with Fragile X syndrome may present no distinctive physical features. Other children or infants may have soft and velvety skin, a slightly larger head than other children their age, or a broad forehead. As these children enter puberty, they may develop features such as more prominent ears or a long face or jaw. Many do not reach the same height as others in their age group. Males might develop enlarged testicles, referred to as 'Macro-orchidism.' The condition is not due to a hormonal imbalance or affects sexual development.
Persons with Fragile X may have joints that are loose and flexible; they may have flat feet as well. People with this syndrome can experience weak connective tissues, which predispose them to specific medical conditions such as repetitious middle ear infections or hernias. Weaknesses in connective tissues may also affect the vessels and valves in the person's heart and create a heart murmur, referred to as a 'Mitral Valve Prolapse.' The condition is usually not life-threatening, although it is wise to have it monitored by a health care professional. Children with Fragile X may have difficulties with balance and coordination, causing issues as they learn to sit, stand, walk, or ride a bike. Later in life, males with Fragile X can develop hand tremors and problems with walking.
Most children with Fragile X syndrome, particularly boys, experience immense social anxiety. They are not comfortable in new social situations. The levels of anxiety they experience can reach high enough levels that they will avoid social situations. These children might exhibit anxiety through a lack of eye contact or pressured speech that is 'choppy,' too. Males, particularly Fragile X, tend to be easily upset and overwhelmed with sights and sounds. They may become distressed in restaurants or busy stores. During adolescence, changes, including a rise in hormone levels, can cause outbursts to become more extreme.
Teenage males with Fragile X may exhibit aggressive, angry behavior or get into trouble at school. Children with Fragile X may experience language difficulties that range from mild stuttering to basic language skills such as pronunciation difficulties, communication issues, trouble speaking and writing words, or using grammar correctly. Other children with Fragile X have more severe language difficulties and begin talking later than expected. Most children with Fragile X begin talking around age four, but some might not begin to talk until six or even eight. Some children with Fragile X who have difficulties starting to talk may remain nonverbal throughout life.
Some children with Fragile X syndrome are sensitive to certain sensations. They may become frantic after hearing a loud noise or become distracted by a slight sound. The texture of the clothes against their skin may bother them; they might not be able to focus on various parts of their environment, even though they are important. Tickling a child might be overwhelming for them. While these symptoms are often life-long, proper intervention can present ways to handle or avoid their discomfort.
Treatment of Fragile X Syndrome
There is currently no one, single form of treatment available for Fragile X syndrome. There are, however, several ways to help minimize the symptoms of Fragile X. A significant factor is early intervention. The sooner a child with the syndrome starts to receive help, the greater their learning opportunity. Early intervention gives a child with Fragile X the best chance to develop their potential. One of the ways to help a child with Fragile X syndrome is through education.
Educational Options for Persons with Fragile X
The U.S. Social Security Administration recognizes Fragile X Syndrome as one of the impairments that can cause disability by interfering with development. However, they do not have a specific listing for Fragile X Syndrome.
The majority of children who have Fragile X syndrome, including those with severe mental retardation, are guaranteed public education that is both free and appropriate under federal law. Public Law 105-17: The U.S. Individual's with Disabilities Education Act - IDEA (1997) makes it possible for children with disabilities to get free educational services and educational devices to help them learn as much as they can. Each child is entitled to these services from age three through high school or until age 21, whichever comes first. Furthermore, every state operates an early intervention program for children from birth to age three; children with Fragile X should qualify for these services. The law also states that children must be taught in the least restrictive environment appropriate for that individual. This statement does not mean that each child will be placed in a regular classroom, but instead, that the best combination of one-to-one tutoring, small group work, and regular classroom work will be arranged.
A medical diagnosis of Fragile X does not necessarily guarantee that a child will have access to special education services. Not all children and teenagers with Fragile X have special needs or a mental impairment that qualifies. Parents need to contact their local school principal or special education coordinator to learn how to have their child examined to find out if their child qualifies for services under IDEA. If a child does qualify for services, a team of people that includes the parents or caregivers, a school psychologist, teachers, and child development specialists will work together to design an Individualized Education Plan (IEP) for the child. An IEP includes specific learning goals for the child based on their capabilities and needs. The team decides how to carry out the IEP.
Children with Fragile X need regularly evaluated and re-evaluated by their special services team to determine how they are doing and whether any changes are needed. Changes might be made to the child's IEP, treatment, classroom placement, or other services they receive. Generally, there are three classroom placement options for children with Fragile X syndrome, depending on their specific needs and abilities; these include:
Full inclusion in a regular classroom:
The child spends the full day in the regular classroom rather than among children with special needs. The situation is sometimes referred to as "mainstreaming." Specialists work with the child in the classroom, with other students present. An aide might be assigned to help the child with certain tasks.
Inclusion with, "pull-out," services:
In this placement, the child spends most of the day in the regular classroom. However, for a portion of the day, they attend small-group classes with one or more developmental specialists, such as speech-language or physical therapists. The arrangement gives the child exposure to children who do not have special needs and more individual attention to their areas of special needs.
Full-time, special education classroom:
Some children with Fragile X might do better in a smaller special education class than in a regular classroom. Special education classrooms commonly have fewer children and offer more individualized attention from the teacher. These programs may be offered at the school or in central locations that serve a larger area. Regional special education centers often have facilities and equipment for children with special needs. A special school for children with similar disabilities may be the best option for some children.
Therapeutic Options for Persons with Fragile X
some professionals might help persons with Fragile X syndrome and their family members deal with the symptoms presented by the disorder. The services offered by specialists might be available to pre-school, school-aged, and teenage children through the public school system. Various specialists often work together in a school setting to assess each child's strengths and areas that might be improved upon, developing a plan tailored to the child's needs. The services are free in numerous instances. More individualized and intensive help is available through clinics, although the family must pay for private services. Some health insurance plans might assist with the costs. Examples of different therapists include:
Physical therapists design activities and exercises to build motor control and improve posture and balance. They can teach parents ways to exercise their baby's muscles. At school, a physical therapist may help a child who is easily over-stimulated or who avoids body contact to participate in sports and games with other children.
Speech-language therapists can help people with Fragile X to improve their pronunciation of words and sentences, slow down speech, and use language more effectively. They may set up social or problem-solving situations to help a child practice using language in meaningful ways. For the minority of children who fail to develop functional speech, this specialist may work with other specialists to design and teach nonverbal communication.
Occupational therapists help find ways to adjust tasks and conditions to match a person's needs and abilities. For example, this therapist might teach parents to massage their baby with Fragile X to calm them. Or the therapist might find a specially designed computer mouse, keyboard, or pencil that is easier for a child with poor motor control to grip. At the high school level, an occupational therapist can help a teenager with Fragile X identify a job, career, or skill that matches their interests and individual capabilities.
Behavioral therapists try to identify why a child acts in negative ways and then seek ways to prevent these distressing situations and teach the child to cope with the distress. This specialist works with parents and teachers to find good responses to desirable and undesirable behavior. Rising and changing hormone levels during puberty can cause adolescents to become more aggressive. A behavioral therapist can help a teenager recognize intense emotions and teach healthy ways to calm down.
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