Disability Rights of West Virginia
Fragile X Syndrome
Article by Lia Billings, DRWV Staff Attorney
Fragile X Syndrome, also known as Martin-Bell Syndrome, is the most common form of inherited intellectual and developmental disability (IDD). It is called Fragile X Syndrome (FXS) because part of the X chromosome looks broken or fragile when viewed through a microscope. It is caused by changes in the FMR1 gene, which usually makes a protein called FMRP. FMRP is needed for brain development. People who have Fragile X Syndrome do not make this protein.
Researchers estimate that about 1 in 8,000-11,000 females and 1 in 4,000-7,000 males have Fragile X Syndrome. FXS is usually more severe in males. It is not clear how many people carry the fragile X premutation, which can be passed down to their child and cause fragile X. Parents carrying the premutation are nearly two times more likely to have a child with a disability.
Fragile X Syndrome affects a child’s intelligence, mental health, physical features, and behavior. Signs that a child might have FXS include:
Learning disabilities, like trouble learning new skills;
Social and behavioral problems, like not making eye contact, anxiety, trouble paying attention, and hand flapping; and
Physical features such as a long, narrow face, a large forehead, a large jaw, soft skin, and/or flat feet.
Diagnosing Fragile X Syndrome requires DNA from blood, amniotic fluid, or other tissues. A doctor or genetic counselor can order a test. Testing can also be done to find changes in the FRM1 gene that can lead to Fragile X-associated disorders.
A diagnosis of FXS can provide a reason for a child’s intellectual disabilities and behavior problems and give family and caregivers the ability to learn more about FXS to manage care. Boys are usually diagnosed around 35-37 months old, and girls, on average, are diagnosed around 42 months. Symptoms may appear as early as 12 months.
Testing and Diagnostic
Fragile X Syndrome cannot be cured, but some symptoms can be treated with medications. Additionally, various treatment services can help with learning important skills. Services can include therapy to learn to walk, talk, and interact with others.
Early intervention services help children from birth to 3 years old and may improve a child’s development. Even if there has been no formal diagnosis of FXS, they may be eligible for services. In addition, treatment for specific symptoms like speech therapy often does not need to wait for a formal diagnosis of FXS.
To develop the best treatment plan, parents, people with FXS, health care providers, and others who may be involved (i.e. teachers, therapists, etc.) should all work together to determine a course of services. Taking advantage of all available resources will help guide success.
Fragile X Syndrome is a lifelong syndrome. However, the life expectancy for someone with FXS is the same as for the average person. Some individuals are able to live independently. Surveys show that around 4 in 10 women and 1 in 10 men with FXS grow up to have a high level of independence.
Fragile X Syndrome can be a difficult diagnosis. Having support and community resources can help increase confidence in managing FXS and enhance the quality of life for everyone involved. Some resources include:
The National Fragile X Foundation. They can be contacted at 1-800-688-8765 or treatment@fragileX.org to get information about treatments, educational strategies, therapies, and intervention.
Community Support Networks (CSN) via fragileX.org. CSNs are organized and run by parent volunteers and provide support to families.
Sources: Cleveland Clinic, CDC
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