What Is Fragile X Syndrome? And How Can Speech Therapy Help?

If your child has a developmental disability, speech and language therapy can be an important intervention.

Speech therapy can help your child understand and communicate with those around them.

There are many different kinds of developmental differences and diagnoses that can impact speech.

One of these disabilities is Fragile X syndrome.

If your child has recently been diagnosed with Fragile X syndrome, it can be hard to know what to expect.

You might be worried about your child’s future and independence.

However, a Fragile X speech therapist can help.

Speech therapy can help children with Fragile X syndrome develop independence as they learn how to communicate and advocate for themselves and their own needs.

In this article, let’s take a closer look at what exactly Fragile X syndrome is and how speech therapy can help.

What Is Fragile X Syndrome?

Fragile X syndrome is also called Martin-Bell syndrome.

It is a hereditary condition.

That means it’s passed down from parents to their children by their genes.

Fragile X can cause differences in development.

This includes physical, intellectual, and speech and language development.

It can also cause distinct facial features.

Usually, boys have more severe symptoms than girls.

They are also more like to have Fragile X syndrome.

Fragile X is estimated to affect about 1 in 4,000 boys and 1 in 8,000 girls.

What Causes Fragile X Syndrome?

Fragile X is passed down through your genes.

It’s linked to a gene called the FMR1 gene.

This gene is found on your X chromosome, which is a sex chromosome.

Most females have two X chromosomes and most males have one X and one Y chromosome.

If your child has Fragile X, they have a mutation in the FMR1 gene.

This mutation keeps the FMR1 gene from making a particular protein your child needs for their nervous system to function.

When you have a shortage or complete lack of this protein, you have Fragile X syndrome.

Fragile X syndrome is usually more severe in boys than in girls because it’s linked to your X chromosome.

Since most boys only have one X chromosome, the mutation in their FMR1 gene will impact all the protein produced by this gene.

Because most girls have two X chromosomes, their FMR1 gene on one X chromosome may produce protein that is normal, even if their other X chromosome has the mutation that causes Fragile X syndrome.

You can be a carrier of this genetic mutation without having Fragile X syndrome yourself.

This means that parents who don’t have Fragile X themselves can still pass it down to their children.

Now that we’ve talked about what causes Fragile X syndrome, let’s take a closer look at some of the characteristics.

What Are The Signs Your Child Has Fragile X Syndrome?

Fragile X syndrome can manifest in many different ways.

It can cause developmental delays, as well as differences in behavior, social development, and learning ability.

RELATED: Developmental Delays Speech and Language Therapy

Boys with Fragile X syndrome are also more likely to have an intellectual disability than girls.

If you think your child might have Fragile X syndrome, you can look out for other signs such as:

• Social anxiety
• General anxiety
• Hyperactivity
• Sleep difficulties
• Depression
• Seizures
• Impulsivity
• Stuttering
• Attention deficit hyperactivity disorder (ADHD)
• Autism
• Sensory processing differences
• Difficulty understanding social cues

Some people with Fragile X syndrome can also have distinct physical features.

It could be a sign of Fragile X syndrome if your child has any of the following features:

• Loose or flexible joints
• A large forehead or ears
• A prominent jaw
• Flat feet
• An elongated face
• Ears, forehead, and chin that stick out

Not all people with Fragile X syndrome have these features, though.

Your child could still have Fragile X syndrome even without these features.

The only way to officially diagnose Fragile X syndrome is through a DNA test.

Your child’s blood is tested for differences in the FMR1 gene that cause Fragile X.

On average, boys are diagnosed with Fragile X syndrome around 3 years old, and girls are diagnosed around 3.5 years old.

Along with this test, your child might be tested for their learning, language skills, social skills, and intellectual ability.

These tests can help you understand the best kinds of support for you child.

How Does Fragile X Syndrome Affect Speech and Language Development?

If your child has Fragile X syndrome, it will likely affect their speech and language.

You might notice that your child has a better understanding of language than their ability to speak itexpress themselves.

For example, they might understand the things you say to them, but have difficulty communicating back to you verbally.

Your child’s understanding of language is known as their receptive language skills.

Your child’s ability to express themselves is known as expressive language.

RELATED: Speech Therapy for Expressive Language Disorder

Often, children with Fragile X syndrome need support developing their expressive language skills, or finding different ways to communicate other than spoken language.

Being familiar with speech developmental communication milestones for children can help you assess whether your child needs support with their speech.

If your child with Fragile X syndrome has difficulty with speech, you may also notice that they have difficulty with eating, drinking, or swallowing.

This is because the muscle coordination needed for swallowing is similar to the coordination your child needs to speak.

However, if your child has difficulties with speech or swallowing, speech therapy for Fragile X syndrome can help them.

Let’s take a closer look at how this works.

How Can A Speech Therapist Help With Fragile X Syndrome?

The first thing a speech therapist will do with your child is assess their speech and language skills.

This helps your child’s speech therapist understand your child’s strengths, and the areas where they may need support.

RELATED ARTICLE: What is Strengths-Based Speech Therapy?

If you are worried about your child’s eating, drinking, or swallowing, a speech therapist can also assess these areas.

From there, your pediatric speech therapist will be able to put together a personalized treatment plan for your child.

Speech therapy can sound intimidating or boring, but it can actually be a lot of fun and very engaging for your child.

Speech therapy for kids is play-based.

This means your child’s speech therapist will use fun games and activities to help your child develop their speech and language skills.

Your child’s speech therapist will also work with you to understand how to best support your child on their speech therapy journey.

The needs of every child with Fragile X will be different.

Your child might need support with receptive and expressive language.

This could include building vocabulary, understanding directions, sequencing events from stories, and more.

Your child might have difficulty producing clear speech.

Speech therapy can help your child improve their articulation skills so they are more easily understood by others.

Your child’s speech therapist might also provide support with augmentative and alternative communication (AAC).

AAC can include things like sign language, high-tech communication devices, or picture supports.

AAC can help provide your child with other modalities of communication in addition to the speech skills they are developing.

It can also be a good option if your child cannot speak at all or uses minimal spoken language.

Other areas that your child’s speech therapist can support with include things such as:

• Social communication
• Swallowing
• Attention
• Eating and drinking
• Listening

Book Your Appointment With Our Speech Therapy Clinic Today

If your child has Fragile X syndrome and you’re not sure where to start, Forte Speech & Language Therapy can help.

Our Los Angeles speech therapists value a strengths-based, neurodiversity affirming approach.

You can rest assured that your child’s speech and language development is in good hands.

Book your appointment with Forte Speech & Language Therapy today.