Fragile X Syndrome

February 20, 2020
Janelle Thomas MSN, RN
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Being a parent is hard work. But, finding out your child has a medical condition increases the struggle tenfold. First, there’s shock. Then, your mind starts reeling with so many questions. What does it mean? How did it happen? What does treatment involve? How will this affect my child? Such is the case with rare disorders such as fragile X syndrome.

What is Fragile X Syndrome?

Fragile X syndrome (FXS) is a genetic disorder that affects the FMR1 gene — a gene that’s necessary for adequate brain development. While it can affect both boys and girls, symptoms in females tend to be milder. The condition affects learning and cognitive abilities, behavior, overall health, and physical appearance.

Fragile X Syndrome Causes

A mother with the FMR1 gene mutation has a 50% chance of passing it to her children. If the carrier is the father, he can only pass it on to his daughters. This is because females have two X chromosomes — where the FMR1 gene is located. It’s also possible for carriers of the gene mutation not to have any signs or symptoms themselves but can pass it on to their children.

Fragile X Syndrome Signs and Symptoms

Fragile X syndrome may present itself differently between boys and girls. The most common signs and symptoms of fragile X syndrome include:

In Males: 

  • Large ears
  • Large testicles
  • Flat feet
  • High arched palate
  • Long face
  • Autistic behaviors — such as flapping their arms, hand biting, and social anxiety
  • Intellectual disabilities

In Females:

  • Mild intellectual disabilities
  • Anxiety
  • Mental health issues
  • Fertility issues when they become adults

Both males and females could have temper tantrums, hyperactivity, and sensitivity to light and/or sound. It’s also possible for them to have loose joints and a larger than usual head. In more severe cases, the condition can also cause seizures and heart problems.

It’s important to note that sometimes, babies who are born with FXS don’t show any signs of the condition. Signs — such as the physical ones — become apparent as the baby gets older. Also, note if a child is experiencing developmental delays, such as not making eye contact, sitting up, walking, or talking at around the same age as other children.

How is Fragile X syndrome diagnosed?

FXS is diagnosed by conducting blood tests to study the person’s DNA. If parents-to-be already know they are carriers of the gene mutation — which can be confirmed through genetic counseling — the baby can be tested for it while still in utero via an amniocentesis.

Fragile X Syndrome Treatment

There are no medications to treat fragile X syndrome — although anti-seizure meds may be prescribed for children who suffer from them. However, children with the condition can receive speech, occupational, and behavioral therapy to help them manage symptoms. They may also require special education once they start school.

Early detection is the best way to understand a child’s behavioral issues and to work to help them learn basic skills and how to interact with others. By knowing early, you can help give your child the tools they need to live a relatively normal life.

Contact Care Options for Kids for Home Health Care

It can be hard to balance your time between work, home, and caring for a child who has fragile X syndrome. You can feel helpless and want to spend every minute of your day with your child. Home health care providers offer the support you or your loved one needs.

If you are considering pediatric home health care services, contact the caring staff at Care Options for Kids. Call today at (888) 592-5855.