Facts About Fragile X Syndrome - Fragile X Syndrome Diagnosis and Treatment

Written by Robert Myers, PhD

Speech, Language, and Learning Disabilities

Speech and language present special difficulties. Children with Fragile X often speak in rapid bursts or repeat words (called echolalia). For males with Fragile X, the primary language difficulty is perseveration. Perseveration is the inability to complete a sentence because of continuous repetition of words at the end of a phrase. Another language-based behavior displayed by males with Fragile X is talking inappropriately and incessantly about one topic. This particular difficulty distinguishes males with Fragile X from individuals with other forms of mental retardation or autism. Speech problems are made worse in situations where the child must have eye contact with another person or when the child becomes anxious, leading researchers to suspect some underlying relationship between difficulties with language and difficulties with sensory processing.

Medical Problems

Although most children with Fragile X do not have serious physical problems, they are at greater risk for certain types of moderate medical problems than are normal children. For example, they often suffer recurrent otitis media (inner ear infections), which should be treated as early as possible to prevent it from becoming a source of language difficulties. Common eye problems include myopia (nearsightedness) and a high incidence of "lazy eye." Orthopedic difficulties related to flat feet and joint laxity may occur. Twenty percent of males with Fragile X are prone to seizures, including petit mal, grand mal, and temporal lobe seizures. In addition, many children with Fragile X have digestive disorders, such as gastroesophageal reflux, that causes gagging, regurgitation, and discomfort.

Education of Children with Fragile X

Even at a young age, children with Fragile X tend to be good at imitation and to be very social. Consequently, they can benefit immensely from early intervention programs and prolonged contact with children who are developing normally. Congressional legislation (Public Law 99-457) mandates early intervention services for children with developmental delays, ages 3 to 5 years; in some states this includes younger children.

Parents and educators should be aware that many children with Fragile X achieve above the level that would have been predicted from measured IQ, and it is important for parents and educators to help these children reach their maximum potential. Children with Fragile X with an IQ above 70 generally do best when mainstreamed into a well-organized classroom environment with individualized help from special education experts and other professionals. Cooperative instruction, using peers to help teach, often relieves some of the stress of the classroom environment and the teacher-child relationship.

Additional Therapies

To counter the sensory integration difficulties of children with Fragile X, a wide range of strategies has been employed. Minimizing exposure to noise and odors may prevent overstimulation. Therapeutic calming techniques, such as music therapy, can also be used. It may be helpful to make special efforts to provide structure in the immediate environment and in day-to-day activities. Children with Fragile X often develop their own routines. Occupational therapists specializing in sensory integration therapy can work with children with Fragile X to help them organize environmental stimuli and to improve their response to formal education.

The strength of their visual memory means that children with Fragile X process information better when they are presented with whole pictures rather than when information is presented orally or sequentially, as in normal reading. As a result, use of pictures, message boards, calculators, and other visual devices may be helpful. Some children with Fragile X learn sign language, a visual system. Computer software is now available for learning basic concepts in language and math using high-interest visual themes.

Psychology professionals warn against the tendency to assume that all characteristics of a child with Fragile X stem directly from the Fragile X syndrome. The emotional difficulties of an individual with Fragile X may include insecurity and anxiety related to having a disability.

These strategies are only a few that specialists have developed to help children with Fragile X. Parents and other individuals working with these children should make use of their assets, such as their positive outlook on life and love of other people. Children with Fragile X should be encouraged to express their feelings openly even when they have difficulty using words.

Future Research

Since the discovery of the Fragile X gene in 1991, there has been tremendous progress in the understanding of this disorder. Preimplantation genetic screening, using molecular genetic screening of in vitro fertilized embryos followed by implantation of embryos that are free of the disorder, may be available to would-be parents in the near future.

Some affected families argue that not enough research is being conducted on the treatment of Fragile X. In response, experts explain that it is difficult to treat Fragile X without first understanding more about the biology of the condition and the meaning of the DNA expansions. It has been particularly difficult to investigate these questions in the absence of an animal model. The nature of the Fragile X mutation may itself be a source of the difficulty scientists are having in developing an animal model of the disease. The excess genetic material of the Fragile X defect is so voluminous and so fragile that inserting the Fragile X DNA into animal cells has been a problem for laboratory scientists. However, there has been some recent progress in this area, and continued research is likely to bring success.

Once an animal model is developed, researchers will be able to learn more about the basis of the Fragile X mutation and the mechanisms that contribute to its unstable character. Ongoing analysis of the FMR-1 gene and its protein product may help researchers understand the normal function of this protein and perhaps find a way to intervene when its functioning goes awry.

Note to Reader

This publication was reviewed in August 2000 by NIH researchers. Although the publication does not include the newest research available, it has been determined to still be scientifically valid.

For more complete information and help for parents, Children with Fragile X Syndrome: A Parents' Guide is a great resource available from Amazon.com.

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