What is Fragile X syndrome?
Fragile X syndrome is the most common inherited cause of intellectual disability. It is caused by a mutation of a gene (FMR1) on the X chromosome responsible for making a protein that plays a role in brain development. When the gene is fully mutated, it becomes inactive and does not make the protein. This lack of protein results in fragile X syndrome.
Some people may be premutation carriers and show no outward signs of fragile X, yet they may pass on the full gene mutation to their children. Approximately 1 in 3600 males and 1 in 4000 to 6000 females have fragile X syndrome.
What are the effects of Fragile X syndrome?
Identifiable physical characteristics of individuals with Fragile X syndrome tend to be less obvious in childhood, yet may become more so with age. If present, physical characteristics may include:
- a long, narrow face and protruding ears
- highly flexible finger joints, wrists, and elbows
- flat feet
- low muscle tone
- soft skin
Individuals with Fragile X may have delays in:
- speech and language
- motor skills such as crawling, walking, and toileting
Individuals with Fragile X syndrome often have an intellectual disability. Levels of intellectual functioning consistently tend to be lower in males and more variable in degree in females.
Fragile X syndrome also can result in problems relating to others, which can range from shyness and social anxiety to autism. Hand-flapping, hand-biting, impulsivity, poor attention span, and difficulty making eye contact/gaze avoidance may be present.
Can Fragile X syndrome be treated?
There is no cure for Fragile X syndrome. However, early intervention in key areas may be effective in improving quality of life and helping individuals with Fragile X to reach their full potential. Speech and language, occupational, and behavior therapies can be very successful. Medications may be helpful in treating anxiety, hyperactivity, and poor attention span.
In educational settings, the use of pictures, diagrams, and familiar contexts can be very useful teaching tools. Individuals with Fragile X syndrome often have strong visual memories and learn well through these methods. Individuals with Fragile X syndrome may be eligible for special education services, depending upon intellectual functioning levels.
It is not uncommon for Fragile X carriers to feel guilt for having a transmittable genetic disorder. Supportive psychotherapies and counseling may prove to be of value. These therapies may also be useful in addressing issues of shyness, depression, and worry in individuals with Fragile X.
It will be important to evaluate an individual’s strengths and challenges with healthcare providers to design an individualized treatment plan. Revisit the plan often and make adjustments as necessary.
‣ VKC Resources
‣ Local and National Resources
- Fragile X Research Foundation
- The National Fragile X Foundation
- The Arc of Tennessee
- The Arc US
- The Center for Child Development at Monroe Carell Jr. Children’s Hospital at Vanderbilt
- Junior League Family Resource Center, Monroe Carrell Jr. Children’s Hospital at Vanderbilt
- MEND Research Clinic: Medical Exploration of Neurodevelopmental Disorders
- National Institute of Child Health and Human Development (NICHD)
- TABS – Tennessee Adult Brothers and Sisters
- Tennessee Developmental Disabilities Network
- Tennessee’s Early Intervention System (TEIS)
[April 2011]