Fragile X Rendering.jpg

2022

NEWSLETTER

July

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:

  • Developmental delays;

  • 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.

child with Fragile X Syndrome2.jpg

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

Treatment

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.

Outlook

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.

Living independently.jpg

Support

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

Client Comments

Why we do what we do

"I am co-guardian for my brother and on his behalf one of your senior advocates has been a public servant of the highest caliber! We recently navigated issues with our service provider and were unsure how to proceed. After a nebulous request to meet with their Director and several mid-level managers,  our mother contacted the Disability Rights of West Virginia senior advocate. The advocate then initiated conversations with the Director to help define the group home / provider issues. Then she was able to confidently and compassionately share those legitimate concerns with us, prior to the face to face meeting so we were not blind-sided.  She traveled to the meeting and was a reassuring advocate for us, and helped clarify the communication processes that were instituted!  She has continued to make herself available via phone and email, recently responding to an email despite being out of the office for vacation.  This simple email isn’t sufficient to accurately identify how valuable this employee was/is to our family.  I’m sure you know what she is capable of, but her calmness under fire and ability to communicate in a precise and non-confrontational manner was very much appreciated!"

"Great advocate."