Fragile X Syndrome — Everything You Need to Know
Fragile X Syndrome is not as well-known as other genetic disorders. At the same time, it’s the most common cause of someone inheriting an intellectual disability.
While there are many unknown direct causes of the neurodevelopmental disorder known as autism spectrum disorder (ASD), Fragile X syndrome is actually the leading known cause of autism.
Autism is a disorder that relates to one’s behaviors and ability to learn, communicate and interact with others. Unlike Fragile X syndrome, there are no physical effects of ASD.
Yet, while there is much that is different between the two disorders, there are some significant links as well. Let’s take a closer look at what Fragile X syndrome is, and how it is linked to autism.
Table Of Contents
What is Fragile X Syndrome?
Unlike ASD, Fragile X syndrome is a genetic disorder. Changes in one of our genes is what causes the syndrome to develop. It gets its name from this gene, which is known as the fragile X messenger ribonucleoprotein 1, or FMR11.
This gene typically produces the FMRP protein that is necessary for brain development. Those who have Fragile X syndrome, though, don’t produce this specific protein.
This can affect individuals who have it in many different ways.
From a physical standpoint, people with Fragile X syndrome may have crossed eyes, flat feet, large foreheads, a face that’s long and narrow, large ears, a large jaw, fingers that are very flexible and more2.
They might also develop other intellectual and learning disabilities, which we’ll discuss more below.
How is Fragile X Syndrome Diagnosed?
Another key difference between Fragile X syndrome and autism is how it’s diagnosed. Medical tests can diagnose the syndrome through an analysis of your child’s DNA.
Children are often sent for testing for Fragile X syndrome when they are young, based on how they are developing physically and/or whether they are falling behind their developmental milestones.
In most cases, boys are diagnosed between 35 and 37 months old, while girls are usually diagnosed around 42 months old. That being said, it’s possible that symptoms can first be identified at about 12 months old3.
What is the Link Between Fragile X Syndrome and Autism?
About one-third of people who have Fragile X syndrome also have autism. Just like ASD, it’s more prevalent in boys than it is girls.
The U.S. Centers for Disease Control and Prevention, for instance, says that roughly 50% of boys who have Fragile X syndrome also have ASD, while this happens in roughly 16% of girls4.
This, of course, doesn’t mean that every child who is diagnosed with Fragile X syndrome will also be diagnosed with ASD, but it does show that it can be a major contributing factor of it.
What are Shared Symptoms of Fragile X Syndrome and Autism?
Another reason why Fragile X syndrome and autism are often linked to each other are some of the shared symptoms. Even people who have Fragile X syndrome but not autism will display many similar characteristics to people who do have ASD.
From a behavior standpoint, they might experience shyness or other challenges in social situations. They might face challenges with communication, especially non-verbal communication such as understanding social cues or the importance of eye contact.
They might face challenges with sensory stimuli, such as trouble with loud sounds, strong odors, bright lights, certain textures and more. They also might bite and/or flap their hands often.
From a mental standpoint, they might engage in behaviors that would be termed obsessive-compulsive. And because they might have trouble fitting in with others, they commonly suffer from anxiety and/or depression.
How is Fragile X Syndrome Treated?
Just like autism, there is no cure for Fragile X syndrome. As a result, treatments are focused on helping children who have it manage their symptoms in a way that allows them to live a happy and fulfilled life.
This is why a leading treatment for Fragile X syndrome is applied behavioral analysis, or ABA therapy. It’s commonly accepted as the best treatment option for children on the autism spectrum, and it’s often used for those who have Fragile X syndrome, too.
ABA therapy is based on scientific research and other evidence that shows the immense benefits of positive reinforcement, repetition and breaking down tasks into small, individual steps. Over time, ABA therapists can help children with Fragile X syndrome and those with ASD to build the social, communication and daily life skills they often struggle with.
A great aspect of ABA therapy is that it’s administered on a one-to-one basis, with treatment plans specifically catered to each patient’s unique strengths and challenges. Since parents, caregivers and other family members are also integrated into the plan, it helps to emphasize the skills taught by the ABA therapist long after sessions have ended.
Trust Blue Gems ABA with Your Child’s Treatment
ABA therapy is a leading treatment option for children diagnosed with Fragile X syndrome. That’s because many of the symptoms of Fragile X syndrome are shared with those of autism.
At Blue Gems ABA, we have a team of experienced BCBAs who are dedicated to providing this therapy on a one-to-one basis, and helping children with Fragile X syndrome grow in the process.
To learn more, please contact us today.
617-297-7998
617-340-3371
info@bluegemsaba.com
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