Defining Fragile X Syndrome
Author: Disabled World : Contact: Disabled World
Published: 2009-07-24 : (Rev. 2015-07-22)
Synopsis and Key Points:
Information and definition of Fragile X Syndrome a genetically inherited form of mental retardation.
Defining Fragile X Syndrome
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 syndrome (FXS), also known as Martin-Bell syndrome, or Escalante's syndrome, is a genetic syndrome. Nearly half of all children with fragile X syndrome meet the criteria for a diagnosis of autism. It is an inherited cause of intellectual disability especially among boys. It results in a spectrum of intellectual disabilities ranging from mild to severe as well as physical characteristics such as an elongated face, large or protruding ears, and large testes (macroorchidism), and behavioral characteristics such as stereotypic movements (e.g. hand-flapping), and social anxiety.
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 might 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: A number of people with Fragile X experience intellectual disabilities. The issues they experience can range from mild learning disabilities to more severe mental retardation.
Physical: Adolescents and adults with Fragile X might have long ears, faces, and jaws. A number of 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. A number of children, particularly boys, have trouble paying attention or may be aggressive. Girls might be shy around new people.
Speech and Language: The majority of boys with Fragile X experience problems with speech and language. They might have trouble speaking clearly, or may 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 problems with speech or language.
Sensory: A number of 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.
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 a number of 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 is indicative of another fact - they also have many capabilities than a simple I.Q. Test may suggest.
Females have a tendency to be less seriously affected by the syndrome than do males. Even in females who have 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 skin that is soft and velvety, a slightly larger head than other children their age, or a broad forehead. As these children begin to enter puberty, they may develop features such as more noticeable ears, or a longer 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, nor does it affect 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.
The majority of children who have 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 their anxiety through a lack of eye contact or pressured speech that is, 'choppy,' as well. Males in particular with 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, or 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. The majority of children with Fragile X begin talking around age four, but some might not begin to talk until the age of six or even eight years of age. Of the children with Fragile X who have difficulties starting to talk, some may remain nonverbal throughout life.
A number of children with Fragile X syndrome are sensitive to certain sensations. The 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 thought they are important. Tickling a child might be overwhelming for them. While these symptoms are often life-long, proper intervention can present ways to either handle or avoid the discomfort associated with them.
Treatment of Fragile X Syndrome
There is currently no one, single form of treatment available for Fragile X syndrome. There are; however, a number of different ways to help minimize the symptoms of Fragile X. An important factor is is early intervention. The sooner a child with the syndrome starts to receive help, the greater their opportunity for learning. 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 majority of children who have Fragile X syndrome, to include those with severe mental retardation, are guaranteed public education that is both free and appropriate under federal law. Public Law 105-17: The Individuals 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. Also, 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 child. 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, unfortunately. 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 in order 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 and Individualized Education Plan (IEP) for the child. An IEP includes specific learning goals for the child that are based on their capabilities and needs. The team decides how to carry out the IEP.
Children with Fragile X need to be evaluated and re-evaluated regularly by their special services team to determine how they are doing, and to determine whether any changes are needed. Changes might be made to the child's IEP, treatment, classroom placement, or in other services they are receiving. 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. There might be an aide assigned to help the child with certain kinds of tasks.
Inclusion with, "pull-out," services: In this type of placement, the child spends most of the day in the regular classroom. However; for a portion of the day, he or she attends small-group classes with one or more developmental specialists - such as a speech-language therapist or a physical therapist. The arrangement gives the child exposure to children who do not have special needs, as well as more individual attention to his or her 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 many times have facilities and equipment designed for children with special needs. For some children, a special school for children with similar disabilities may be the best option.
Therapeutic options for Persons with Fragile X
There are a number of professionals who might help persons with Fragile X syndrome and their family members to 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. Through a school setting, various specialists many times work together in order to assess each child's specific strengths and areas which might be improved upon; developing a plan tailored to the child's needs. The services are free in many cases. Help that is more individualized and intensive is available through clinics, although the family commonly has to pay for private services. Some health insurance plans might assist with the costs. Examples of different therapists include:
Physical Therapists: Physical therapists design activities and exercises in order 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: 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 type of specialist may work with other specialists to design and teach nonverbal ways of communication.
Occupational Therapists: Occupational therapists help find ways to adjust tasks and conditions in order to match a person's needs and abilities. For example, this type of therapist might teach parents to massage their baby with Fragile X to calm them. Or the therapist might find a specially designed computer mouse and keyboard or a 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 his or her interests and individual capabilities.
Behavioral Therapists: Behavioral therapists try to identify why a child acts in negative ways and then seek ways to prevent these distressing situations, and to teach the child to cope with the distress. This type of specialist also works with parents and teachers to find useful responses to desirable and undesirable behavior. During puberty, rising and changing hormone levels can cause adolescents to become more aggressive. A behavioral therapist can help a teenager recognize his or her intense emotions and teach healthy ways to calm down.
- 1: Serious Mental Illnesses and The Criminal Justice System : University of Chicago (2014/10/14)
- 2: Are Genetics to Blame for Intellectual Disability : Cardiff University (2014/10/22)
- 3: Having Mild Cognitive Impairment Anxiety Can Accelerate Conversion to Alzheimer's : Baycrest Center for Geriatric Care (2014/11/13)
- 4: Infertility Treatments: No Risk of Developmental Delays in Children : NIH/Eunice Kennedy Shriver National Institute of Child Health and Human Development (2016/01/05)
- 5: Statins Reverse Learning Disability Caused by Genetic Disorder : University of California - Los Angeles Health Sciences (2014/11/16)
- 6: Report: Detecting, and Diagnosing Cognitive Impairment : The Gerontological Society of America (2015/02/09)
- 7: The Neurophysiology of Stuttering : University of California - Santa Barbara (2015/02/24)
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